[ { "uniprot_canonical_ac": "O14686-1", "uniprot_ac": "O14686", "uniprot_id": "KMT2D_HUMAN", "mass": { "chemical_mass": 593389.0, "monoisotopic_mass": 593389.0 }, "refseq": { "ac": "NP_003473", "name": "histone-lysine N-methyltransferase 2D", "summary": "The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, "gene_names": [ { "name": "KMT2D", "type": "recommended", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686" } ] }, { "name": "AAD10", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "ALR", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686" } ] }, { "name": "BCAHH", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "CAGL114", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "KABUK1", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "KMS", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "KMT2D", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "MLL2", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686" } ] }, { "name": "MLL4", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686" } ] }, { "name": "TNRC21", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase 2D", "type": "recommended", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#names_and_taxonomy" } ] }, { "name": "2.1.1.364", "type": "synonym", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#names_and_taxonomy" } ] }, { "name": "ALL1-related protein", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#names_and_taxonomy" } ] }, { "name": "Kabuki make-up syndrome", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "Lysine N-methyltransferase 2D", "type": "synonym", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#names_and_taxonomy" } ] }, { "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2", "type": "synonym", "evidence": [ { "id": "O14686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#names_and_taxonomy" } ] }, { "name": "histone-lysine N-methyltransferase 2D", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "histone-lysine N-methyltransferase MLL2", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "lysine (K)-specific methyltransferase 2D", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "lysine N-methyltransferase 2D", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "myeloid/lymphoid or mixed-lineage leukemia 2", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] }, { "name": "trinucleotide repeat containing 21", "type": "synonym", "evidence": [ { "id": "NP_003473", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] } ], "function": [ { "annotation": "Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17500065, PubMed:25561738). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732).", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686#function" }, { "database": "PubMed", "id": "25561738", "url": "https://glygen.org/publication/PubMed/25561738" }, { "database": "PubMed", "id": "17500065", "url": "https://glygen.org/publication/PubMed/17500065" }, { "database": "PubMed", "id": "16603732", "url": "https://glygen.org/publication/PubMed/16603732" }, { "database": "UniProtKB", "id": "A0A8I5KSG1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KSG1#function" }, { "database": "UniProtKB", "id": "ARBA00056994", "url": "https://www.uniprot.org/uniprotkb/ARBA00056994#function" }, { "database": "UniProtKB", "id": "A0A804HHR9", "url": "https://www.uniprot.org/uniprotkb/A0A804HHR9#function" }, { "database": "UniProtKB", "id": "ARBA00058707", "url": "https://www.uniprot.org/uniprotkb/ARBA00058707#function" } ] }, { "annotation": "Histone-methyltransferase KMT2D deficiency impairs the Fanconi anemia/BRCA pathway upon glycolytic inhibition in squamous cell carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "database": "PubMed", "id": "39117659", "url": "https://glygen.org/publication/PubMed/39117659" } ] }, { "annotation": "Lysine Methyltransferase 2D Regulates Immune Response and Metastasis in Head and Neck Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_003473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "database": "PubMed", "id": "39060071", "url": "https://glygen.org/publication/PubMed/39060071" } ] }, { "annotation": "The histone methyltransferase KMT2D maintains cellular glucocorticoid responsiveness by shielding the glucocorticoid receptor from degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_003473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" }, { "database": "PubMed", "id": "39025450", "url": "https://glygen.org/publication/PubMed/39025450" } ] }, { "annotation": "The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_003473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473" } ] } ], "disease": [ { "disease_id": "DOID:0050866", "recommended_name": { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells." }, "synonyms": [ { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050866", "name": "mouth squamous cell carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ] }, { "disease_id": "DOID:0060473", "recommended_name": { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060473", "name": "Kabuki syndrome", "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects." }, "synonyms": [ { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060473", "name": "KMS", "description": "" }, { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060473", "name": "Kabuki make up syndrome", "description": "" }, { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060473", "name": "Niikawa-Kuroki syndrome", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome type 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "KABUK1", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome 2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome 2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome 2, X-linked dominant", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome type 2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "KABUK2", "description": "" }, { "id": "MIM:147920", "resource": "MIM", "url": "https://www.omim.org/entry/147920", "name": "Kabuki syndrome 1", "description": "Kabuki syndrome 1" }, { "id": "MIM:300867", "resource": "MIM", "url": "https://www.omim.org/entry/300867", "name": "Kabuki syndrome 2", "description": "Kabuki syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "147920", "database": "MIM", "url": "https://www.omim.org/entry/147920" }, { "id": "0060473", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060473" }, { "id": "0060473", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060473" } ] }, { "disease_id": "DOID:0080598", "recommended_name": { "id": "DOID:0080598", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080598", "name": "Kleefstra syndrome 2", "description": "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36." }, "synonyms": [ { "id": "MONDO:0054701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054701", "name": "Kleefstra syndrome 2", "description": "" }, { "id": "MONDO:0054701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054701", "name": "Kleefstra syndrome 2", "description": "" }, { "id": "MONDO:0054701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054701", "name": "KLEFS2", "description": "" }, { "id": "MIM:617768", "resource": "MIM", "url": "https://www.omim.org/entry/617768", "name": "Kleefstra syndrome 2", "description": "Kleefstra syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080598" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10941", "recommended_name": { "id": "DOID:10941", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10941", "name": "intracranial aneurysm", "description": "" }, "synonyms": [ { "id": "DOID:10941", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10941", "name": "brain aneurysm", "description": "" } ], "unlinked_id_list": [ "DOID:0060228" ], "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ] }, { "disease_id": "DOID:1520", "recommended_name": { "id": "DOID:1520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:1520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1520", "name": "Colonic carcinoma", "description": "" }, { "id": "DOID:1520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1520", "name": "carcinoma of colon", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1682", "recommended_name": { "id": "DOID:1682", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth." }, "synonyms": [ { "id": "DOID:1682", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1682", "name": "Congenital Heart Defects", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1682", "name": "Congenital anomaly of heart", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1682", "name": "Heart Malformation", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1682", "name": "congenital heart defect", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1682", "name": "heart defect", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ] }, { "disease_id": "DOID:3459", "recommended_name": { "id": "DOID:3459", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:3459", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3459", "name": "Mammary carcinoma", "description": "" }, { "id": "DOID:3459", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3459", "name": "carcinoma of breast", "description": "" } ], "unlinked_id_list": [ "DOID:0050938" ], "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ] }, { "disease_id": "DOID:3565", "recommended_name": { "id": "DOID:3565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges." }, "synonyms": [ { "id": "DOID:3565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3565", "name": "meningeal neoplasm", "description": "" }, { "id": "DOID:3565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3565", "name": "meningothelial cell tumor", "description": "" }, { "id": "DOID:3565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3565", "name": "neoplasm of the meninges", "description": "" }, { "id": "DOID:3565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3565", "name": "primary Meningeal tumor", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ] }, { "disease_id": "DOID:3717", "recommended_name": { "id": "DOID:3717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3717", "name": "adenocarcinoma of stomach", "description": "" }, { "id": "DOID:3717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3717", "name": "stomach adenocarcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ] }, { "disease_id": "DOID:3748", "recommended_name": { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." }, "synonyms": [ { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "SCC of esophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "SCC of oesophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "oesophagus squamous cell carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:3969", "recommended_name": { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland." }, "synonyms": [ { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of the Thyroid gland", "description": "" }, { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "thyroid gland papillary carcinoma", "description": "" }, { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of thyroid", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, type 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "NMTC1", "description": "" }, { "id": "MIM:188550", "resource": "MIM", "url": "https://www.omim.org/entry/188550", "name": "Thyroid cancer, non-medullary, 1", "description": "Thyroid cancer, non-medullary, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ] }, { "disease_id": "DOID:5409", "recommended_name": { "id": "DOID:5409", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung carcinoma", "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma (morphologic abnormality)", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "poorly differentiated endocrine neoplasm", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "Small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell neuroendocrine carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell lung carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung, somatic", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small-cell cancer of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC1", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ] }, { "disease_id": "DOID:5426", "recommended_name": { "id": "DOID:5426", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40." }, "synonyms": [ { "id": "DOID:5426", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5426", "name": "hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:5426", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5426", "name": "premature ovarian insufficiency", "description": "" }, { "id": "DOID:5426", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5426", "name": "premature ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure 1", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "ovarian failure, premature", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "FMR1 primary ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "fragile x-associated primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure 1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure type 1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "primary ovarian failure caused by mutation in FMR1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "FMR1-related premature ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "FMR1-related primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "Pof1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "familial premature ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "fragile X-associated primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "idiopathic familial premature ovarian failure", "description": "" }, { "id": "MIM:311360", "resource": "MIM", "url": "https://www.omim.org/entry/311360", "name": "Premature ovarian failure 1", "description": "Premature ovarian failure 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ] }, { "disease_id": "DOID:903", "recommended_name": { "id": "DOID:903", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:903", "name": "gastrointestinal lymphoma", "description": "" }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:903" } ] }, { "disease_id": "MONDO:0035651", "recommended_name": { "id": "MONDO:0035651", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0035651", "name": "choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "description": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities." }, "synonyms": [ { "id": "MONDO:0035651", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0035651", "name": "BCAHH", "description": "" }, { "id": "MONDO:0035651", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0035651", "name": "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "description": "" }, { "id": "MONDO:0035651", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0035651", "name": "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome", "description": "" }, { "id": "MIM:620186", "resource": "MIM", "url": "https://www.omim.org/entry/620186", "name": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome", "description": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "620186", "database": "MIM", "url": "https://www.omim.org/entry/620186" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 5474, "end_pos": 5474, "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes interaction with S-adenosyl-L-methionine.", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "PubMed", "id": "25561738", "url": "https://glygen.org/publication/PubMed/25561738" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "70.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167548" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", 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"https://www.uniprot.org/uniprotkb/A0A8I5KSG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KTR4", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KTR4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KTR4-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KTR4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KU18", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KU18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KU18-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KU18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KU33", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KU33", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KU33-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KU33-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KU95", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KU95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KU95-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KU95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KX79", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KX79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KX79-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KX79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYU5", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KYU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYU5-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5KYU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJ79", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJ79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJ79-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJ79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJA0", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJA0-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJD3", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJD3-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJD5", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJD5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJD5-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJD5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJE4", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJE4-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QJE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKN1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QKN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKN1-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QKN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKP3", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QKP3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKP3-1", "url": "https://www.uniprot.org/uniprotkb/A0A8I5QKP3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14686-1", "url": "https://www.uniprot.org/uniprotkb/O14686-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14686-3", "url": "https://www.uniprot.org/uniprotkb/O14686-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5537, "header": "sp|O14686-1|KMT2D_HUMAN Isoform 1 of Histone-lysine N-methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=2 CANONICAL=O14686-1" }, "isoforms": [ { "isoform_ac": "A0A3B3ISC8-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A3B3ISC8-1", "sequence": { "sequence": "XIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQK", "length": 342, "header": "tr|A0A3B3ISC8-1|A0A3B3ISC8_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=4 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49043998, "end_pos": 49041655, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650290.2", "url": "https://www.ensembl.org/id/ENST00000650290.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000497218.2", "url": "https://www.ensembl.org/id/ENSP00000497218.2" } ] } }, { "isoform_ac": "A0A804HHR9-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A804HHR9-1", "sequence": { "sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRVFTSIISFDPHNNLMRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5553, "header": "tr|A0A804HHR9-1|A0A804HHR9_HUMAN Computationally mapped isoform of Histone-lysine N-methyltransferase 2C OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49055324, "end_pos": 49021783, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683543.2", "url": "https://www.ensembl.org/id/ENST00000683543.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000506726.1", "url": "https://www.ensembl.org/id/ENSP00000506726.1" } ] } }, { "isoform_ac": "A0A804HJB5-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A804HJB5-1", "sequence": { "sequence": "YIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQPPLPLSDTLVPSSATSAFLESRHLHVPNKQ", "length": 321, "header": "tr|A0A804HJB5-1|A0A804HJB5_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49026500, "end_pos": 49022322, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684428.1", "url": "https://www.ensembl.org/id/ENST00000684428.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507433.1", "url": "https://www.ensembl.org/id/ENSP00000507433.1" } ] } }, { "isoform_ac": "A0A8I5KNS6-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KNS6-1", "sequence": { "sequence": "QQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRSGVLVIPPSLVPTRPLLLRE", "length": 660, "header": "tr|A0A8I5KNS6-1|A0A8I5KNS6_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49038919, "end_pos": 49034416, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692841.1", "url": "https://www.ensembl.org/id/ENST00000692841.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508711.1", "url": "https://www.ensembl.org/id/ENSP00000508711.1" } ] } }, { "isoform_ac": "A0A8I5KPB7-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KPB7-1", "sequence": { "sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGALLPLHQARCLHPLPLTWMSTALPLPLRDCQRFLPIHENTAAAMPRAQ", "length": 181, "header": "tr|A0A8I5KPB7-1|A0A8I5KPB7_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49055324, "end_pos": 49053998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692465.1", "url": "https://www.ensembl.org/id/ENST00000692465.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508680.1", "url": "https://www.ensembl.org/id/ENSP00000508680.1" } ] } }, { "isoform_ac": "A0A8I5KQ09-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KQ09-1", "sequence": { "sequence": "KLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKENNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIP", "length": 183, "header": "tr|A0A8I5KQ09-1|A0A8I5KQ09_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49031312, "end_pos": 49029062, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691986.1", "url": "https://www.ensembl.org/id/ENST00000691986.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509196.1", "url": "https://www.ensembl.org/id/ENSP00000509196.1" } ] } }, { "isoform_ac": "A0A8I5KQD6-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KQD6-1", "sequence": { "sequence": "KMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPEPEWRDGGSGGAAEHEDPQLL", "length": 135, "header": "tr|A0A8I5KQD6-1|A0A8I5KQD6_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49030370, "end_pos": 49028080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687241.1", "url": "https://www.ensembl.org/id/ENST00000687241.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509842.1", "url": "https://www.ensembl.org/id/ENSP00000509842.1" } ] } }, { "isoform_ac": "A0A8I5KQT2-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KQT2-1", "sequence": { "sequence": "PGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRNSNNCGSNNRQQQQPPCDLPCQLAFHQLLDLNLAAKP", "length": 717, "header": "tr|A0A8I5KQT2-1|A0A8I5KQT2_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49041442, "end_pos": 49038808, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689143.1", "url": "https://www.ensembl.org/id/ENST00000689143.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509839.1", "url": "https://www.ensembl.org/id/ENSP00000509839.1" } ] } }, { "isoform_ac": "A0A8I5KRH2-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KRH2-1", "sequence": { "sequence": "XPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNS", "length": 795, "header": "tr|A0A8I5KRH2-1|A0A8I5KRH2_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49042309, "end_pos": 49039222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689060.1", "url": "https://www.ensembl.org/id/ENST00000689060.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509018.1", "url": "https://www.ensembl.org/id/ENSP00000509018.1" } ] } }, { "isoform_ac": "A0A8I5KSG1-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KSG1-1", "sequence": { "sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5536, "header": "tr|A0A8I5KSG1-1|A0A8I5KSG1_HUMAN Computationally mapped isoform of Histone-lysine N-methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49055324, "end_pos": 49021783, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692637.1", "url": "https://www.ensembl.org/id/ENST00000692637.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509666.1", "url": "https://www.ensembl.org/id/ENSP00000509666.1" } ] } }, { "isoform_ac": "A0A8I5KTR4-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KTR4-1", "sequence": { "sequence": "NLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQPDPSPVPGPLKKVKIPVLLASRNGKECAGSGFGCC", "length": 122, "header": "tr|A0A8I5KTR4-1|A0A8I5KTR4_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49028141, "end_pos": 49026986, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691463.1", "url": "https://www.ensembl.org/id/ENST00000691463.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510624.1", "url": "https://www.ensembl.org/id/ENSP00000510624.1" } ] } }, { "isoform_ac": "A0A8I5KU18-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KU18-1", "sequence": { "sequence": "VADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAE", "length": 379, "header": "tr|A0A8I5KU18-1|A0A8I5KU18_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49048769, "end_pos": 49044231, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688095.1", "url": "https://www.ensembl.org/id/ENST00000688095.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510007.1", "url": "https://www.ensembl.org/id/ENSP00000510007.1" } ] } }, { "isoform_ac": "A0A8I5KU33-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KU33-1", "sequence": { "sequence": "QQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQPLSLQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGE", "length": 1257, "header": "tr|A0A8I5KU33-1|A0A8I5KU33_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49038919, "end_pos": 49032513, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687201.1", "url": "https://www.ensembl.org/id/ENST00000687201.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510037.1", "url": "https://www.ensembl.org/id/ENSP00000510037.1" } ] } }, { "isoform_ac": "A0A8I5KU95-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KU95-1", "sequence": { "sequence": "KLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEQQGSL", "length": 51, "header": "tr|A0A8I5KU95-1|A0A8I5KU95_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49031312, "end_pos": 49031012, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692973.1", "url": "https://www.ensembl.org/id/ENST00000692973.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508893.1", "url": "https://www.ensembl.org/id/ENSP00000508893.1" } ] } }, { "isoform_ac": "A0A8I5KX79-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KX79-1", "sequence": { "sequence": "KLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTK", "length": 102, "header": "tr|A0A8I5KX79-1|A0A8I5KX79_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49031312, "end_pos": 49030601, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685982.1", "url": "https://www.ensembl.org/id/ENST00000685982.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508613.1", "url": "https://www.ensembl.org/id/ENSP00000508613.1" } ] } }, { "isoform_ac": "A0A8I5KYU5-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5KYU5-1", "sequence": { "sequence": "NLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQPCGIASLSLWLP", "length": 99, "header": "tr|A0A8I5KYU5-1|A0A8I5KYU5_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49028141, "end_pos": 49024911, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688411.1", "url": "https://www.ensembl.org/id/ENST00000688411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510146.1", "url": "https://www.ensembl.org/id/ENSP00000510146.1" } ] } }, { "isoform_ac": "A0A8I5QJ79-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QJ79-1", "sequence": { "sequence": "ERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKE", "length": 630, "header": "tr|A0A8I5QJ79-1|A0A8I5QJ79_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49034476, "end_pos": 49031175, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685554.1", "url": "https://www.ensembl.org/id/ENST00000685554.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508640.1", "url": "https://www.ensembl.org/id/ENSP00000508640.1" } ] } }, { "isoform_ac": "A0A8I5QJA0-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QJA0-1", "sequence": { "sequence": "XPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNS", "length": 825, "header": "tr|A0A8I5QJA0-1|A0A8I5QJA0_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49042309, "end_pos": 49039222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689944.1", "url": "https://www.ensembl.org/id/ENST00000689944.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508812.1", "url": "https://www.ensembl.org/id/ENSP00000508812.1" } ] } }, { "isoform_ac": "A0A8I5QJD3-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QJD3-1", "sequence": { "sequence": "RCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRAWRYPH", "length": 207, "header": "tr|A0A8I5QJD3-1|A0A8I5QJD3_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49054140, "end_pos": 49052677, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686968.1", "url": "https://www.ensembl.org/id/ENST00000686968.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509151.1", "url": "https://www.ensembl.org/id/ENSP00000509151.1" } ] } }, { "isoform_ac": "A0A8I5QJD5-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QJD5-1", "sequence": { "sequence": "XRPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESAKVSMNCAHSCPGWRAVKTIYSAMGATPLWSCHS", "length": 383, "header": "tr|A0A8I5QJD5-1|A0A8I5QJD5_HUMAN Computationally mapped isoform of [histone H3]-lysine(4) N-methyltransferase OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49027090, "end_pos": 49024635, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685024.1", "url": "https://www.ensembl.org/id/ENST00000685024.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509185.1", "url": "https://www.ensembl.org/id/ENSP00000509185.1" } ] } }, { "isoform_ac": "A0A8I5QJE4-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QJE4-1", "sequence": { "sequence": "ELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIP", "length": 170, "header": "tr|A0A8I5QJE4-1|A0A8I5QJE4_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49030768, "end_pos": 49029062, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686564.1", "url": "https://www.ensembl.org/id/ENST00000686564.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509290.1", "url": "https://www.ensembl.org/id/ENSP00000509290.1" } ] } }, { "isoform_ac": "A0A8I5QKN1-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QKN1-1", "sequence": { "sequence": "ELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIP", "length": 171, "header": "tr|A0A8I5QKN1-1|A0A8I5QKN1_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=1 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49030768, "end_pos": 49029062, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685979.1", "url": "https://www.ensembl.org/id/ENST00000685979.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508906.1", "url": "https://www.ensembl.org/id/ENSP00000508906.1" } ] } }, { "isoform_ac": "A0A8I5QKP3-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#A0A8I5QKP3-1", "sequence": { "sequence": "MPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 204, "header": "tr|A0A8I5QKP3-1|A0A8I5QKP3_HUMAN Computationally mapped isoform of Lysine methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=2 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49024708, "end_pos": 49021783, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691932.1", "url": "https://www.ensembl.org/id/ENST00000691932.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509037.1", "url": "https://www.ensembl.org/id/ENSP00000509037.1" } ] } }, { "isoform_ac": "O14686-1", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#O14686-1", "sequence": { "sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5537, "header": "sp|O14686-1|KMT2D_HUMAN Isoform 1 of Histone-lysine N-methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=2 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49055324, "end_pos": 49021783, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000301067.12", "url": "https://www.ensembl.org/id/ENST00000301067.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000301067.7", "url": "https://www.ensembl.org/id/ENSP00000301067.7" } ] } }, { "isoform_ac": "O14686-3", "url": "https://www.uniprot.org/uniprotkb/O14686/entry#O14686-3", "sequence": { "sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEGETVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5540, "header": "sp|O14686-3|KMT2D_HUMAN Isoform 3 of Histone-lysine N-methyltransferase 2D OS=Homo sapiens OX=9606 GN=KMT2D PE=1 SV=2 CANONICAL=O14686-1" }, "locus": { "chromosome": "12", "start_pos": 49055324, "end_pos": 49021783, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685166.1", "url": "https://www.ensembl.org/id/ENST00000685166.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509386.1", "url": "https://www.ensembl.org/id/ENSP00000509386.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1195, "start_aa": "Thr", "end_pos": 1195, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1195", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "00000000000000001000.00000000001000.0.01011" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2402, "start_aa": "Ser", "end_pos": 2402, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2402", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "O14686", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "O14686", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14686" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" }, { "id": "35513511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35513511" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" }, { "id": "38838015", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38838015" } ], "filter_code": "00000000000000010000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2405, "start_aa": "Ser", "end_pos": 2405, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2405", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "O14686", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "O14686", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14686" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" } ], "filter_code": "00000000000000010000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2441, "start_aa": "Thr", "end_pos": 2441, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2441", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "00000000000000001000.00000000001000.0.01001" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2487, "start_aa": "Thr", "end_pos": 2487, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2487", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "O14686", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "O14686", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14686" } ], "filter_code": 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Sugimoto K, Nozaki M, Ueda J, Ohta T, Ohki M, Fukuda M, Takeda N, Niida H, Kato H, Shinkai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12130538", "url": "https://glygen.org/publication/PubMed/12130538" } ] }, { "title": "Leukemia proto-oncoprotein MLL is proteolytically processed into 2 fragments with opposite transcriptional properties.", "journal": "Blood", "date": "2002-11-15", "authors": "Yokoyama Akihiko, Kitabayashi Issay, Ayton Paul M, Cleary Michael L, Ohki Misao", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12393701", "url": "https://glygen.org/publication/PubMed/12393701" } ] }, { "title": "MLL targets SET domain methyltransferase activity to Hox gene promoters.", "journal": "Molecular cell", "date": "2002", "authors": "Milne TA, Briggs SD, Brock HW, Martin ME, Gibbs D, Allis CD, Hess JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12453418", "url": "https://glygen.org/publication/PubMed/12453418" } ] }, { "title": "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.", "journal": "Mol. Cell. Biol.", "date": "2003", "authors": "Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "12482968", "url": "https://glygen.org/publication/PubMed/12482968" } ] }, { "title": "Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Hsieh JJ, Ernst P, Erdjument-Bromage H, Tempst P, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12482972", "url": "https://glygen.org/publication/PubMed/12482972" } ] }, { "title": "Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.", "journal": "Human genetics", "date": "2003", "authors": "Freson K, Thys C, Wittewrongel C, Vermylen J, Hoylaerts MF, Van Geet C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "12483298", "url": "https://glygen.org/publication/PubMed/12483298" } ] }, { "title": "Structure and catalytic mechanism of the human histone methyltransferase SET7/9.", "journal": "Nature", "date": "2003", "authors": "Xiao B, Jing C, Wilson JR, Walker PA, Vasisht N, Kelly G, Howell S, Taylor IA, Blackburn GM, Gamblin SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12540855", "url": "https://glygen.org/publication/PubMed/12540855" } ] }, { "title": "RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation.", "journal": "Blood", "date": "2003", "authors": "Elagib KE, Racke FK, Mogass M, Khetawat R, Delehanty LL, Goldfarb AN", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "12576332", "url": "https://glygen.org/publication/PubMed/12576332" } ] }, { "title": "Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.", "journal": "Genes & development", "date": "2003", "authors": "Wysocka J, Myers MP, Laherty CD, Eisenman RN, Herr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12670868", "url": "https://glygen.org/publication/PubMed/12670868" } ] }, { "title": "Induction of adiponectin, a fat-derived antidiabetic and antiatherogenic factor, by nuclear receptors.", "journal": "Diabetes", "date": "2003", "authors": "Iwaki M, Matsuda M, Maeda N, Funahashi T, Matsuzawa Y, Makishima M, Shimomura I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9841922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841922" } ], "reference": [ { "type": "PubMed", "id": "12829629", "url": "https://glygen.org/publication/PubMed/12829629" } ] }, { "title": "9-cis retinoic acid is a high affinity ligand for the retinoid X receptor.", "journal": "Cell", "date": "1992-01-24", "authors": "Heyman R A, Mangelsdorf D J, Dyck J A, Stein R B, Eichele G, Evans R M, Thaller C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9841922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841922" } ], "reference": [ { "type": "PubMed", "id": "1310260", "url": "https://glygen.org/publication/PubMed/1310260" } ] }, { "title": "mAM facilitates conversion by ESET of dimethyl to trimethyl lysine 9 of histone H3 to cause transcriptional repression.", "journal": "Molecular cell", "date": "2003", "authors": "Wang H, An W, Cao R, Xia L, Erdjument-Bromage H, Chatton B, Tempst P, Roeder RG, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "14536086", "url": "https://glygen.org/publication/PubMed/14536086" } ] }, { "title": "Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression.", "journal": "Cell", "date": "2003", "authors": "Hsieh JJ, Cheng EH, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "14636557", "url": "https://glygen.org/publication/PubMed/14636557" } ] }, { "title": "Histone methyltransferases direct different degrees of methylation to define distinct chromatin domains.", "journal": "Molecular cell", "date": "2003", "authors": "Rice JC, Briggs SD, Ueberheide B, Barber CM, Shabanowitz J, Hunt DF, Shinkai Y, Allis CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "14690610", "url": "https://glygen.org/publication/PubMed/14690610" } ] }, { "title": "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.", "journal": "Molecular cell", "date": "2004", "authors": "Hughes CM, Rozenblatt-Rosen O, Milne TA, Copeland TD, Levine SS, Lee JC, Hayes DN, Shanmugam KS, Bhattacharjee A, Biondi CA, Kay GF, Hayward NK, Hess JL, Meyerson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "14992727", "url": "https://glygen.org/publication/PubMed/14992727" } ] }, { "title": "A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.", "journal": "Genes & development", "date": "2004", "authors": "Schotta G, Lachner M, Sarma K, Ebert A, Sengupta R, Reuter G, Reinberg D, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "15145825", "url": "https://glygen.org/publication/PubMed/15145825" } ] }, { "title": "Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Yokoyama A, Wang Z, Wysocka J, Sanyal M, Aufiero DJ, Kitabayashi I, Herr W, Cleary ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "15199122", "url": "https://glygen.org/publication/PubMed/15199122" } ] }, { "title": "SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells.", "journal": "Nature cell biology", "date": "2004", "authors": "Hamamoto R, Furukawa Y, Morita M, Iimura Y, Silva FP, Li M, Yagyu R, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "15235609", "url": "https://glygen.org/publication/PubMed/15235609" } ] }, { "title": "Expression of HOXB2, a retinoic acid signaling target in pancreatic cancer and pancreatic intraepithelial neoplasia.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2005", "authors": "Segara D, Biankin AV, Kench JG, Langusch CC, Dawson AC, Skalicky DA, Gotley DC, Coleman MJ, Sutherland RL, Henshall SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "15867264", "url": "https://glygen.org/publication/PubMed/15867264" } ] }, { "title": "SET8 recognizes the sequence RHRK20VLRDN within the N terminus of histone H4 and mono-methylates lysine 20.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Yin Y, Liu C, Tsai SN, Zhou B, Ngai SM, Zhu G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "15964846", "url": "https://glygen.org/publication/PubMed/15964846" } ] }, { "title": "HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS.", "journal": "Human molecular genetics", "date": "2005", "authors": "Zhai J, Lin H, Canete-Soler R, Schlaepfer WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "16079151", "url": "https://glygen.org/publication/PubMed/16079151" } ] }, { "title": "Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang HH, Zhang QH, Chen SJ, Huang QH, Chen Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16118227", "url": "https://glygen.org/publication/PubMed/16118227" } ] }, { "title": "MLL associates specifically with a subset of transcriptionally active target genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Milne TA, Dou Y, Martin ME, Brock HW, Roeder RG, Hess JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16199523", "url": "https://glygen.org/publication/PubMed/16199523" } ] }, { "title": "A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Smith ER, Cayrou C, Huang R, Lane WS, Cote J, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16227571", "url": "https://glygen.org/publication/PubMed/16227571" } ] }, { "title": "The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis.", "journal": "Cell", "date": "2005-10-21", "authors": "Yokoyama Akihiko, Somervaille Tim C P, Smith Kevin S, Rozenblatt-Rosen Orit, Meyerson Matthew, Cleary Michael L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16239140", "url": "https://glygen.org/publication/PubMed/16239140" } ] }, { "title": "A histone H3 methyltransferase controls epigenetic events required for meiotic prophase.", "journal": "Nature", "date": "2005", "authors": "Hayashi K, Yoshida K, Matsui Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16292313", "url": "https://glygen.org/publication/PubMed/16292313" } ] }, { "title": "Identification of novel PPARgamma target genes in primary human adipocytes.", "journal": "Gene", "date": "2006", "authors": "Perera RJ, Marcusson EG, Koo S, Kang X, Kim Y, White N, Dean NM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9841922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841922" } ], "reference": [ { "type": "PubMed", "id": "16380219", "url": "https://glygen.org/publication/PubMed/16380219" } ] }, { "title": "Catalytic properties and kinetic mechanism of human recombinant Lys-9 histone H3 methyltransferase SUV39H1: participation of the chromodomain in enzymatic catalysis.", "journal": "Biochemistry", "date": "2006", "authors": "Chin HG, Patnaik D, Esteve PO, Jacobsen SE, Pradhan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16519522", "url": "https://glygen.org/publication/PubMed/16519522" } ] }, { "title": "MicroRNA fingerprints during human megakaryocytopoiesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R, Volinia S, Bhatt D, Alder H, Marcucci G, Calin GA, Liu CG, Bloomfield CD, Andreeff M, Croce CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "16549775", "url": "https://glygen.org/publication/PubMed/16549775" } ] }, { "title": "Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Mo R, Rao SM, Zhu YJ", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "16603732", "url": "https://glygen.org/publication/PubMed/16603732" } ] }, { "title": "Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome.", "journal": "Leukemia", "date": "2006", "authors": "Xu G, Kanezaki R, Toki T, Watanabe S, Takahashi Y, Terui K, Kitabayashi I, Ito E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "16628190", "url": "https://glygen.org/publication/PubMed/16628190" } ] }, { "title": "Characterization of a novel WHSC1-associated SET domain protein with H3K4 and H3K27 methyltransferase activity.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Kim SM, Kee HJ, Eom GH, Choe NW, Kim JY, Kim YS, Kim SK, Kook H, Kook H, Seo SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16682010", "url": "https://glygen.org/publication/PubMed/16682010" } ] }, { "title": "Identification and characterization of Smyd2: a split SET/MYND domain-containing histone H3 lysine 36-specific methyltransferase that interacts with the Sin3 histone deacetylase complex.", "journal": "Molecular cancer", "date": "2006", "authors": "Brown MA, Sims RJ 3rd, Gottlieb PD, Tucker PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16805913", "url": "https://glygen.org/publication/PubMed/16805913" } ] }, { "title": "Histone H3 recognition and presentation by the WDR5 module of the MLL1 complex.", "journal": "Nature structural & molecular biology", "date": "2006-08", "authors": "Ruthenburg Alexander J, Wang Wooikoon, Graybosch Daina M, Li Haitao, Allis C David, Patel Dinshaw J, Verdine Gregory L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16829959", "url": "https://glygen.org/publication/PubMed/16829959" } ] }, { "title": "Regulation of MLL1 H3K4 methyltransferase activity by its core components.", "journal": "Nature structural & molecular biology", "date": "2006-08", "authors": "Dou Yali, Milne Thomas A, Ruthenburg Alexander J, Lee Seunghee, Lee Jae Woon, Verdine Gregory L, Allis C David, Roeder Robert G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16878130", "url": "https://glygen.org/publication/PubMed/16878130" } ] }, { "title": "Molecular regulation of H3K4 trimethylation by ASH2L, a shared subunit of MLL complexes.", "journal": "Nature structural & molecular biology", "date": "2006-09", "authors": "Steward Melissa M, Lee Jung-Shin, O'Donovan Aisling, Wyatt Matt, Bernstein Bradley E, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16892064", "url": "https://glygen.org/publication/PubMed/16892064" } ] }, { "title": "Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2006", "authors": "Lee S, Lee DK, Dou Y, Lee J, Lee B, Kwak E, Kong YY, Lee SK, Roeder RG, Lee JW", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "17021013", "url": "https://glygen.org/publication/PubMed/17021013" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Sessa L, Breiling A, Lavorgna G, Silvestri L, Casari G, Orlando V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17185360", "url": "https://glygen.org/publication/PubMed/17185360" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2007-05-04", "authors": "Lee Jeong-Heon, Tate Courtney M, You Jin-Sam, Skalnik David G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17355966", "url": "https://glygen.org/publication/PubMed/17355966" } ] }, { "title": "Overlapping roles of the methylated DNA-binding protein MBD1 and polycomb group proteins in transcriptional repression of HOXA genes and heterochromatin foci formation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Sakamoto Y, Watanabe S, Ichimura T, Kawasuji M, Koseki H, Baba H, Nakao M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17428788", "url": "https://glygen.org/publication/PubMed/17428788" } ] }, { "title": "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "17500065", "url": "https://glygen.org/publication/PubMed/17500065" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Trithorax-group protein ASH1 methylates histone H3 lysine 36.", "journal": "Gene", "date": "2007", "authors": "Tanaka Y, Katagiri Z, Kawahashi K, Kioussis D, Kitajima S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "17544230", "url": "https://glygen.org/publication/PubMed/17544230" } ] }, { "title": "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities.", "journal": "The EMBO journal", "date": "1991", "authors": "Zappavigna V, Renucci A, Izpisua-Belmonte JC, Urier G, Peschle C, Duboule D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "1756725", "url": "https://glygen.org/publication/PubMed/1756725" } ] }, { "title": "E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases.", "journal": "Molecular cell", "date": "2007-07-06", "authors": "Tyagi Shweta, Chabes Anna Lena, Wysocka Joanna, Herr Winship", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17612494", "url": "https://glygen.org/publication/PubMed/17612494" } ] }, { "title": "DNA methylation regulates MicroRNA expression.", "journal": "Cancer biology & therapy", "date": "2007", "authors": "Han L, Witmer PD, Casey E, Valle D, Sukumar S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17660710", "url": "https://glygen.org/publication/PubMed/17660710" } ] }, { "title": "Interaction of MLL amino terminal sequences with menin is required for transformation.", "journal": "Cancer research", "date": "2007-08-01", "authors": "Caslini Corrado, Yang Zhaohai, El-Osta Mohamad, Milne Thomas A, Slany Robert K, Hess Jay L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17671196", "url": "https://glygen.org/publication/PubMed/17671196" } ] }, { "title": "Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus.", "journal": "Molecular cell", "date": "2007", "authors": "Demers C, Chaturvedi CP, Ranish JA, Juban G, Lai P, Morle F, Aebersold R, Dilworth FJ, Groudine M, Brand M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "17707229", "url": "https://glygen.org/publication/PubMed/17707229" } ] }, { "title": "UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.", "journal": "Nature", "date": "2007", "authors": "Agger K, Cloos PA, Christensen J, Pasini D, Rose S, Rappsilber J, Issaeva I, Canaani E, Salcini AE, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17713478", "url": "https://glygen.org/publication/PubMed/17713478" } ] }, { "title": "Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.", "journal": "Science", "date": "2007", "authors": "Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D, Di Croce L, Shiekhattar R", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17761849", "url": "https://glygen.org/publication/PubMed/17761849" } ] }, { "title": "Orphan receptor TR3 attenuates the p300-induced acetylation of retinoid X receptor-alpha.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Zhao WX, Tian M, Zhao BX, Li GD, Liu B, Zhan YY, Chen HZ, Wu Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-9841922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841922" } ], "reference": [ { "type": "PubMed", "id": "17761950", "url": "https://glygen.org/publication/PubMed/17761950" } ] }, { "title": "A histone H3 lysine 27 demethylase regulates animal posterior development.", "journal": "Nature", "date": "2007", "authors": "Lan F, Bayliss PE, Rinn JL, Whetstine JR, Wang JK, Chen S, Iwase S, Alpatov R, Issaeva I, Canaani E, Roberts TM, Chang HY, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17851529", "url": "https://glygen.org/publication/PubMed/17851529" } ] }, { "title": "The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex.", "journal": "Developmental cell", "date": "2007-10", "authors": "Patel Sanjeevkumar R, Kim Doyeob, Levitan Inna, Dressler Gregory R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17925232", "url": "https://glygen.org/publication/PubMed/17925232" } ] }, { "title": "Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Lee JH, Skalnik DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17998332", "url": "https://glygen.org/publication/PubMed/17998332" } ] }, { "title": "Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Kim JY, Kee HJ, Choe NW, Kim SM, Eom GH, Baek HJ, Kook H, Kook H, Seo SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "18172012", "url": "https://glygen.org/publication/PubMed/18172012" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Methylation of RUNX1 by PRMT1 abrogates SIN3A binding and potentiates its transcriptional activity.", "journal": "Genes & development", "date": "2008", "authors": "Zhao X, Jankovic V, Gural A, Huang G, Pardanani A, Menendez S, Zhang J, Dunne R, Xiao A, Erdjument-Bromage H, Allis CD, Tempst P, Nimer SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "18316480", "url": "https://glygen.org/publication/PubMed/18316480" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Menin critically links MLL proteins with LEDGF on cancer-associated target genes.", "journal": "Cancer cell", "date": "2008-07-08", "authors": "Yokoyama Akihiko, Cleary Michael L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18598942", "url": "https://glygen.org/publication/PubMed/18598942" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "MicroRNAs in the Hox network: an apparent link to posterior prevalence.", "journal": "Nature reviews. Genetics", "date": "2008", "authors": "Yekta S, Tabin CJ, Bartel DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "18781158", "url": "https://glygen.org/publication/PubMed/18781158" } ] }, { "title": "A conserved arginine-containing motif crucial for the assembly and enzymatic activity of the mixed lineage leukemia protein-1 core complex.", "journal": "The Journal of biological chemistry", "date": "2008-11-21", "authors": "Patel Anamika, Vought Valarie E, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18829457", "url": "https://glygen.org/publication/PubMed/18829457" } ] }, { "title": "Structure of WDR5 bound to mixed lineage leukemia protein-1 peptide.", "journal": "The Journal of biological chemistry", "date": "2008-11-21", "authors": "Patel Anamika, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18829459", "url": "https://glygen.org/publication/PubMed/18829459" } ] }, { "title": "Human ATAC Is a GCN5/PCAF-containing acetylase complex with a novel NC2-like histone fold module that interacts with the TATA-binding protein.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wang YL, Faiola F, Xu M, Pan S, Martinez E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18838386", "url": "https://glygen.org/publication/PubMed/18838386" } ] }, { "title": "Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.", "journal": "Molecular and cellular biology", "date": "2008-12", "authors": "Wu Min, Wang Peng Fei, Lee Jung Shin, Martin-Brown Skylar, Florens Laurence, Washburn Michael, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18838538", "url": "https://glygen.org/publication/PubMed/18838538" } ] }, { "title": "Structure of the intact PPAR-gamma-RXR- nuclear receptor complex on DNA.", "journal": "Nature", "date": "2008", "authors": "Chandra V, Huang P, Hamuro Y, Raghuram S, Wang Y, Burris TP, Rastinejad F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9841922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841922" } ], "reference": [ { "type": "PubMed", "id": "19043829", "url": "https://glygen.org/publication/PubMed/19043829" } ] }, { "title": "The double-histone-acetyltransferase complex ATAC is essential for mammalian development.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Guelman S, Kozuka K, Mao Y, Pham V, Solloway MJ, Wang J, Wu J, Lill JR, Zha J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19103755", "url": "https://glygen.org/publication/PubMed/19103755" } ] }, { "title": "A regulatory interplay between miR-27a and Runx1 during megakaryopoiesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Ben-Ami O, Pencovich N, Lotem J, Levanon D, Groner Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "19114653", "url": "https://glygen.org/publication/PubMed/19114653" } ] }, { "title": "The truncated Hoxa1 protein interacts with Hoxa1 and Pbx1 in stem cells.", "journal": "Journal of cellular biochemistry", "date": "2009", "authors": "Fernandez CC, Gudas LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19115252", "url": "https://glygen.org/publication/PubMed/19115252" } ] }, { "title": "Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Gong Z, Cho YW, Kim JE, Ge K, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19124460", "url": "https://glygen.org/publication/PubMed/19124460" } ] }, { "title": "Structural basis for the activation of PPARgamma by oxidized fatty acids.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Itoh T, Fairall L, Amin K, Inaba Y, Szanto A, Balint BL, Nagy L, Yamamoto K, Schwabe JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9841922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841922" } ], "reference": [ { "type": "PubMed", "id": "19172745", "url": "https://glygen.org/publication/PubMed/19172745" } ] }, { "title": "Structural basis for the requirement of additional factors for MLL1 SET domain activity and recognition of epigenetic marks.", "journal": "Molecular cell", "date": "2009", "authors": "Southall SM, Wong PS, Odho Z, Roe SM, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19187761", "url": "https://glygen.org/publication/PubMed/19187761" } ] }, { "title": "Transcriptional inhibiton of Hoxd4 expression by miRNA-10a in human breast cancer cells.", "journal": "BMC molecular biology", "date": "2009", "authors": "Tan Y, Zhang B, Wu T, Skogerbo G, Zhu X, Guo X, He S, Chen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19232136", "url": "https://glygen.org/publication/PubMed/19232136" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Thrombospondin-1 is a transcriptional repression target of PRMT6.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Michaud-Levesque J, Richard S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "19509293", "url": "https://glygen.org/publication/PubMed/19509293" } ] }, { "title": "On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Patel A, Dharmarajan V, Vought VE, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19556245", "url": "https://glygen.org/publication/PubMed/19556245" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Retinoic acid receptor antagonists inhibit miR-10a expression and block metastatic behavior of pancreatic cancer.", "journal": "Gastroenterology", "date": "2009", "authors": "Weiss FU, Marques IJ, Woltering JM, Vlecken DH, Aghdassi A, Partecke LI, Heidecke CD, Lerch MM, Bagowski CP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19747919", "url": "https://glygen.org/publication/PubMed/19747919" } ] }, { "title": "Sequential activation of HOX2 homeobox genes by retinoic acid in human embryonal carcinoma cells.", "journal": "Nature", "date": "1990", "authors": "Simeone A, Acampora D, Arcioni L, Andrews PW, Boncinelli E, Mavilio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "1975088", "url": "https://glygen.org/publication/PubMed/1975088" } ] }, { "title": "Hypoxia-inducible mir-210 regulates normoxic gene expression involved in tumor initiation.", "journal": "Molecular cell", "date": "2009", "authors": "Huang X, Ding L, Bennewith KL, Tong RT, Welford SM, Ang KK, Story M, Le QT, Giaccia AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19782034", "url": "https://glygen.org/publication/PubMed/19782034" } ] }, { "title": "The target of the NSD family of histone lysine methyltransferases depends on the nature of the substrate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Li Y, Trojer P, Xu CF, Cheung P, Kuo A, Drury WJ 3rd, Qiao Q, Neubert TA, Xu RM, Gozani O, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "19808676", "url": "https://glygen.org/publication/PubMed/19808676" } ] }, { "title": "Epigenetic silencing of the RASSF1A tumor suppressor gene through HOXB3-mediated induction of DNMT3B expression.", "journal": "Molecular cell", "date": "2009", "authors": "Palakurthy RK, Wajapeyee N, Santra MK, Gazin C, Lin L, Gobeil S, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "19854132", "url": "https://glygen.org/publication/PubMed/19854132" } ] }, { "title": "Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Cai Y, Jin J, Swanson SK, Cole MD, Choi SH, Florens L, Washburn MP, Conaway JW, Conaway RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20018852", "url": "https://glygen.org/publication/PubMed/20018852" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.", "journal": "FEBS letters", "date": "2010", "authors": "Yates JA, Menon T, Thompson BA, Bochar DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "20085832", "url": "https://glygen.org/publication/PubMed/20085832" } ] }, { "title": "AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2.", "journal": "Blood", "date": "2010", "authors": "Wang W, Schwemmers S, Hexner EO, Pahl HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "20339092", "url": "https://glygen.org/publication/PubMed/20339092" } ] }, { "title": "Analysis of the binding of mixed lineage leukemia 1 (MLL1) and histone 3 peptides to WD repeat domain 5 (WDR5) for the design of inhibitors of the MLL1-WDR5 interaction.", "journal": "Journal of medicinal chemistry", "date": "2010-07-22", "authors": "Karatas Hacer, Townsend Elizabeth C, Bernard Denzil, Dou Yali, Wang Shaomeng", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20575550", "url": "https://glygen.org/publication/PubMed/20575550" } ] }, { "title": "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.", "journal": "Nature genetics", "date": "2010", "authors": "Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "20711175", "url": "https://glygen.org/publication/PubMed/20711175" } ] }, { "title": "Characterization of a novel WDR5-binding site that recruits RbBP5 through a conserved motif to enhance methylation of histone H3 lysine 4 by mixed lineage leukemia protein-1.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Odho Z, Southall SM, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20716525", "url": "https://glygen.org/publication/PubMed/20716525" } ] }, { "title": "Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency.", "journal": "Blood", "date": "2010", "authors": "Jalagadugula G, Mao G, Kaur G, Goldfinger LE, Dhanasekaran DN, Rao AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "20876458", "url": "https://glygen.org/publication/PubMed/20876458" } ] }, { "title": "Molecular basis of the mixed lineage leukemia-menin interaction: implications for targeting mixed lineage leukemias.", "journal": "The Journal of biological chemistry", "date": "2010-12-24", "authors": "Grembecka Jolanta, Belcher Amalia M, Hartley Thomas, Cierpicki Tomasz", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20961854", "url": "https://glygen.org/publication/PubMed/20961854" } ] }, { "title": "A novel non-SET domain multi-subunit methyltransferase required for sequential nucleosomal histone H3 methylation by the mixed lineage leukemia protein-1 (MLL1) core complex.", "journal": "The Journal of biological chemistry", "date": "2011-02-04", "authors": "Patel Anamika, Vought Valarie E, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21106533", "url": "https://glygen.org/publication/PubMed/21106533" } ] }, { "title": "An Ash2L/RbBP5 heterodimer stimulates the MLL1 methyltransferase activity through coordinated substrate interactions with the MLL1 SET domain.", "journal": "PloS one", "date": "2010-11-23", "authors": "Cao Fang, Chen Yong, Cierpicki Tomasz, Liu Yifan, Basrur Venkatesha, Lei Ming, Dou Yali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21124902", "url": "https://glygen.org/publication/PubMed/21124902" } ] }, { "title": "Mechanism of platelet factor 4 (PF4) deficiency with RUNX1 haplodeficiency: RUNX1 is a transcriptional regulator of PF4.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2011", "authors": "Aneja K, Jalagadugula G, Mao G, Singh A, Rao AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "21129147", "url": "https://glygen.org/publication/PubMed/21129147" } ] }, { "title": "Distinct roles of GCN5/PCAF-mediated H3K9ac and CBP/p300-mediated H3K18/27ac in nuclear receptor transactivation.", "journal": "The EMBO journal", "date": "2011-01-19", "authors": "Jin Qihuang, Yu Li-Rong, Wang Lifeng, Zhang Zhijing, Kasper Lawryn H, Lee Ji-Eun, Wang Chaochen, Brindle Paul K, Dent Sharon Y R, Ge Kai", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21131905", "url": "https://glygen.org/publication/PubMed/21131905" } ] }, { "title": "Lysine methylation of the NF-kappaB subunit RelA by SETD6 couples activity of the histone methyltransferase GLP at chromatin to tonic repression of NF-kappaB signaling.", "journal": "Nature immunology", "date": "2011", "authors": "Levy D, Kuo AJ, Chang Y, Schaefer U, Kitson C, Cheung P, Espejo A, Zee BM, Liu CL, Tangsombatvisit S, Tennen RI, Kuo AY, Tanjing S, Cheung R, Chua KF, Utz PJ, Shi X, Prinjha RK, Lee K, Garcia BA, Bedford MT, Tarakhovsky A, Cheng X, Gozani O", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "21131967", "url": "https://glygen.org/publication/PubMed/21131967" } ] }, { "title": "Fine-tuning the stimulation of MLL1 methyltransferase activity by a histone H3-based peptide mimetic.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011-03", "authors": "Avdic Vanja, Zhang Pamela, Lanouette Sylvain, Voronova Anastassia, Skerjanc Ilona, Couture Jean-Francois", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21135039", "url": "https://glygen.org/publication/PubMed/21135039" } ] }, { "title": "The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, Xu RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "21196496", "url": "https://glygen.org/publication/PubMed/21196496" } ] }, { "title": "Structural and biochemical insights into MLL1 core complex assembly.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Avdic V, Zhang P, Lanouette S, Groulx A, Tremblay V, Brunzelle J, Couture JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "21220120", "url": "https://glygen.org/publication/PubMed/21220120" } ] }, { "title": "Platelet protein kinase C-theta deficiency with human RUNX1 mutation: PRKCQ is a transcriptional target of RUNX1.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2011", "authors": "Jalagadugula G, Mao G, Kaur G, Dhanasekaran DN, Rao AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "21252065", "url": "https://glygen.org/publication/PubMed/21252065" } ] }, { "title": "MLL2 mutation spectrum in 45 patients with Kabuki syndrome.", "journal": "Human mutation", "date": "2011", "authors": "Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "21280141", "url": "https://glygen.org/publication/PubMed/21280141" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A mutation screen in patients with Kabuki syndrome.", "journal": "Human genetics", "date": "2011", "authors": "Li Y, Bogershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkuhler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "21607748", "url": "https://glygen.org/publication/PubMed/21607748" } ] }, { "title": "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.", "journal": "Orphanet journal of rare diseases", "date": "2011", "authors": "Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagni A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "21658225", "url": "https://glygen.org/publication/PubMed/21658225" } ] }, { "title": "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2011", "authors": "Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "21671394", "url": "https://glygen.org/publication/PubMed/21671394" } ] }, { "title": "Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia.", "journal": "Blood", "date": "2011", "authors": "Bluteau D, Gilles L, Hilpert M, Antony-Debre I, James C, Debili N, Camara-Clayette V, Wagner-Ballon O, Cordette-Lagarde V, Robert T, Ripoche H, Gonin P, Swierczek S, Prchal J, Vainchenker W, Favier R, Raslova H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "21725049", "url": "https://glygen.org/publication/PubMed/21725049" } ] }, { "title": "Structural and functional profiling of the human histone methyltransferase SMYD3.", "journal": "PloS one", "date": "2011", "authors": "Foreman KW, Brown M, Park F, Emtage S, Harriss J, Das C, Zhu L, Crew A, Arnold L, Shaaban S, Tucker P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "21779408", "url": "https://glygen.org/publication/PubMed/21779408" } ] }, { "title": "Histone methyltransferase SETD3 regulates muscle differentiation.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Eom GH, Kim KB, Kim JH, Kim JY, Kim JR, Kee HJ, Kim DW, Choe N, Park HJ, Son HJ, Choi SY, Kook H, Seo SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "21832073", "url": "https://glygen.org/publication/PubMed/21832073" } ] }, { "title": "NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming.", "journal": "Molecular cell", "date": "2011", "authors": "Kuo AJ, Cheung P, Chen K, Zee BM, Kioi M, Lauring J, Xi Y, Park BH, Shi X, Garcia BA, Li W, Gozani O", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "22099308", "url": "https://glygen.org/publication/PubMed/22099308" } ] }, { "title": "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.", "journal": "European journal of human genetics : EJHG", "date": "2012", "authors": "Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, Garcia-Minaur S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "22126750", "url": "https://glygen.org/publication/PubMed/22126750" } ] }, { "title": "The plasticity of WDR5 peptide-binding cleft enables the binding of the SET1 family of histone methyltransferases.", "journal": "Nucleic Acids Res.", "date": "2012", "authors": "Zhang Pamela, Lee Hwabin, Brunzelle Joseph S, Couture Jean-Francois", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22266653", "url": "https://glygen.org/publication/PubMed/22266653" } ] }, { "title": "The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.", "journal": "Nature", "date": "2012", "authors": "Huang J, Gurung B, Wan B, Matkar S, Veniaminova NA, Wan K, Merchant JL, Hua X, Lei M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22327296", "url": "https://glygen.org/publication/PubMed/22327296" } ] }, { "title": "Secreted HLA recapitulates the immunopeptidome and allows in-depth coverage of HLA A*02:01 ligands.", "journal": "Molecular immunology", "date": "2012-06", "authors": "Scull Katherine E, Dudek Nadine L, Corbett Alexandra J, Ramarathinam Sri H, Gorasia Dhana G, Williamson Nicholas A, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "489291", "url": "https://www.iedb.org/epitope/489291" } ], "reference": [ { "type": "PubMed", "id": "22424782", "url": "https://glygen.org/publication/PubMed/22424782" } ] }, { "title": "Hydroxylation of 5-methylcytosine by TET2 maintains the active state of the mammalian HOXA cluster.", "journal": "Nature communications", "date": "2012", "authors": "Bocker MT, Tuorto F, Raddatz G, Musch T, Yang FC, Xu M, Lyko F, Breiling A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "22569366", "url": "https://glygen.org/publication/PubMed/22569366" } ] }, { "title": "WRAD: enabler of the SET1-family of H3K4 methyltransferases.", "journal": "Briefings in functional genomics", "date": "2012-05", "authors": "Ernst Patricia, Vakoc Christopher R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22652693", "url": "https://glygen.org/publication/PubMed/22652693" } ] }, { "title": "Structural basis for WDR5 interaction (Win) motif recognition in human SET1 family histone methyltransferases.", "journal": "J. Biol. Chem.", "date": "2012", "authors": "Dharmarajan V, Lee JH, Patel A, Skalnik DG, Cosgrove MS", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "22665483", "url": "https://glygen.org/publication/PubMed/22665483" } ] }, { "title": "miR-7 and miR-218 epigenetically control tumor suppressor genes RASSF1A and Claudin-6 by targeting HoxB3 in breast cancer.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Li Q, Zhu F, Chen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "22705304", "url": "https://glygen.org/publication/PubMed/22705304" } ] }, { "title": "Residue 81 confers a restricted C-terminal peptide binding motif in HLA-B*44:09.", "journal": "Immunogenetics", "date": "2012-09", "authors": "Huyton Trevor, Schumacher Heike, Blasczyk Rainer, Bade-Doeding Christina", "evidence": [ { "database": "IEDB", "id": "858609", "url": "https://www.iedb.org/epitope/858609" } ], "reference": [ { "type": "PubMed", "id": "22706990", "url": "https://glygen.org/publication/PubMed/22706990" } ] }, { "title": "Histone arginine methylation keeps RUNX1 target genes in an intermediate state.", "journal": "Oncogene", "date": "2013", "authors": "Herglotz J, Kuvardina ON, Kolodziej S, Kumar A, Hussong H, Grez M, Lausen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "22777353", "url": "https://glygen.org/publication/PubMed/22777353" } ] }, { "title": "Functional dissection of HOXD cluster genes in regulation of neuroblastoma cell proliferation and differentiation.", "journal": "PloS one", "date": "2012", "authors": "Zha Y, Ding E, Yang L, Mao L, Wang X, McCarthy BA, Huang S, Ding HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "22879880", "url": "https://glygen.org/publication/PubMed/22879880" } ] }, { "title": "Alternative peptide repertoire of HLA-E reveals a binding motif that is strikingly similar to HLA-A2.", "journal": "Molecular immunology", "date": "2013-01", "authors": "Lampen Margit H, Hassan Chopie, Sluijter Marjolein, Geluk Annemieke, Dijkman Karin, Tjon Jennifer M, de Ru Arnoud H, van der Burg Sjoerd H, van Veelen Peter A, van Hall Thorbald", "evidence": [ { "database": "IEDB", "id": "544740", "url": "https://www.iedb.org/epitope/544740" } ], "reference": [ { "type": "PubMed", "id": "22898188", "url": "https://glygen.org/publication/PubMed/22898188" } ] }, { "title": "Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity.", "journal": "Cell", "date": "2012", "authors": "Pinheiro I, Margueron R, Shukeir N, Eisold M, Fritzsch C, Richter FM, Mittler G, Genoud C, Goyama S, Kurokawa M, Son J, Reinberg D, Lachner M, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "22939622", "url": "https://glygen.org/publication/PubMed/22939622" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "HoxB3 promotes prostate cancer cell progression by transactivating CDCA3.", "journal": "Cancer letters", "date": "2013", "authors": "Chen J, Zhu S, Jiang N, Shang Z, Quan C, Niu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "23219899", "url": "https://glygen.org/publication/PubMed/23219899" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14686", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.", "journal": "Clinical genetics", "date": "2013", "authors": "Makrythanasis P, van Bon BW, Steehouwer M, Rodriguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-Gonzalez AM, Cusco I, Deshpande C, Frysira E, Izatt L, Flores R, Galan E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "23320472", "url": "https://glygen.org/publication/PubMed/23320472" } ] }, { "title": "The human leukocyte antigen-presented ligandome of B lymphocytes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013-07", "authors": "Hassan Chopie, Kester Michel G D, de Ru Arnoud H, Hombrink Pleun, Drijfhout Jan Wouter, Nijveen Harm, Leunissen Jack A M, Heemskerk Mirjam H M, Falkenburg J H Frederik, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "452461", "url": "https://www.iedb.org/epitope/452461" }, { "database": "IEDB", "id": "455767", "url": "https://www.iedb.org/epitope/455767" } ], "reference": [ { "type": "PubMed", "id": "23481700", "url": "https://glygen.org/publication/PubMed/23481700" } ] }, { "title": "Quantitative dissection and stoichiometry determination of the human SET1/MLL histone methyltransferase complexes.", "journal": "Mol. Cell. Biol.", "date": "2013", "authors": "van Nuland Rick, Smits Arne H, Pallaki Paschalina, Jansen Pascal W T C, Vermeulen Michiel, Timmers H T Marc", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "23508102", "url": "https://glygen.org/publication/PubMed/23508102" } ] }, { "title": "Let-7c inhibits NSCLC cell proliferation by targeting HOXA1.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2013", "authors": "Zhan M, Qu Q, Wang G, Liu YZ, Tan SL, Lou XY, Yu J, Zhou HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "23534758", "url": "https://glygen.org/publication/PubMed/23534758" } ] }, { "title": "Identification of the transcription factor HOXB4 as a novel target of miR-23a.", "journal": "Genes, chromosomes & cancer", "date": "2013", "authors": "Koller K, Das S, Leuschner I, Korbelius M, Hoefler G, Guertl B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "23630040", "url": "https://glygen.org/publication/PubMed/23630040" } ] }, { "title": "MLL2 and KDM6A mutations in patients with Kabuki syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2013", "authors": "Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "23913813", "url": "https://glygen.org/publication/PubMed/23913813" } ] }, { "title": "Regulation of transcription by the MLL2 complex and MLL complex-associated AKAP95.", "journal": "Nature structural & molecular biology", "date": "2013", "authors": "Jiang H, Lu X, Shimada M, Dou Y, Tang Z, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "23995757", "url": "https://glygen.org/publication/PubMed/23995757" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "Hox in motion: tracking HoxA cluster conformation during differentiation.", "journal": "Nucleic acids research", "date": "2014", "authors": "Rousseau M, Crutchley JL, Miura H, Suderman M, Blanchette M, Dostie J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "24174538", "url": "https://glygen.org/publication/PubMed/24174538" } ] }, { "title": "Crosstalk between NSL histone acetyltransferase and MLL/SET complexes: NSL complex functions in promoting histone H3K4 di-methylation activity by MLL/SET complexes.", "journal": "PLoS genetics", "date": "2013-11", "authors": "Zhao Xiaoming, Su Jiaming, Wang Fei, Liu Da, Ding Jian, Yang Yang, Conaway Joan W, Conaway Ronald C, Cao Lingling, Wu Donglu, Wu Min, Cai Yong, Jin Jingji", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "24244196", "url": "https://glygen.org/publication/PubMed/24244196" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "iPTMnet", "id": "O14686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14686" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "MicroRNA-99 family members suppress Homeobox A1 expression in epithelial cells.", "journal": "PloS one", "date": "2013", "authors": "Chen D, Chen Z, Jin Y, Dragas D, Zhang L, Adjei BS, Wang A, Dai Y, Zhou X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "24312487", "url": "https://glygen.org/publication/PubMed/24312487" } ] }, { "title": "H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.", "journal": "eLife", "date": "2013", "authors": "Lee JE, Wang C, Xu S, Cho YW, Wang L, Feng X, Baldridge A, Sartorelli V, Zhuang L, Peng W, Ge K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "24368734", "url": "https://glygen.org/publication/PubMed/24368734" } ] }, { "title": "miR-100 induces epithelial-mesenchymal transition but suppresses tumorigenesis, migration and invasion.", "journal": "PLoS genetics", "date": "2014", "authors": "Chen D, Sun Y, Yuan Y, Han Z, Zhang P, Zhang J, You MJ, Teruya-Feldstein J, Wang M, Gupta S, Hung MC, Liang H, Ma L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "24586203", "url": "https://glygen.org/publication/PubMed/24586203" } ] }, { "title": "A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.", "journal": "Journal of molecular biology", "date": "2014-06-12", "authors": "Shinsky Stephen A, Hu Michael, Vought Valarie E, Ng Sarah B, Bamshad Michael J, Shendure Jay, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "24680668", "url": "https://glygen.org/publication/PubMed/24680668" } ] }, { "title": "Impact of genomic polymorphisms on the repertoire of human MHC class I-associated peptides.", "journal": "Nature communications", "date": "2014-04-09", "authors": "Granados Diana Paola, Sriranganadane Dev, Daouda Tariq, Zieger Antoine, Laumont C\u00e9line M, Caron-Lizotte Olivier, Boucher Genevi\u00e8ve, Hardy Marie-Pierre, Gendron Patrick, C\u00f4t\u00e9 Caroline, Lemieux S\u00e9bastien, Thibault Pierre, Perreault Claude", "evidence": [ { "database": "IEDB", "id": "219098", "url": "https://www.iedb.org/epitope/219098" } ], "reference": [ { "type": "PubMed", "id": "24714562", "url": "https://glygen.org/publication/PubMed/24714562" } ] }, { "title": "The nature and extent of contributions by defective ribosome products to the HLA peptidome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014-04-22", "authors": "Bourdetsky Dmitry, Schmelzer Christian E H, Admon Arie", "evidence": [ { "database": "IEDB", "id": "504495", "url": "https://www.iedb.org/epitope/504495" }, { "database": "IEDB", "id": "504529", "url": "https://www.iedb.org/epitope/504529" }, { "database": "IEDB", "id": "506798", "url": "https://www.iedb.org/epitope/506798" }, { "database": "IEDB", "id": "508087", "url": "https://www.iedb.org/epitope/508087" } ], "reference": [ { "type": "PubMed", "id": "24715725", "url": "https://glygen.org/publication/PubMed/24715725" } ] }, { "title": "Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.", "journal": "Journal of human genetics", "date": "2014", "authors": "Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "24739679", "url": "https://glygen.org/publication/PubMed/24739679" } ] }, { "title": "KDM6 demethylase independent loss of histone H3 lysine 27 trimethylation during early embryonic development.", "journal": "PLoS genetics", "date": "2014", "authors": "Shpargel KB, Starmer J, Yee D, Pohlers M, Magnuson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "25101834", "url": "https://glygen.org/publication/PubMed/25101834" } ] }, { "title": "CTCF controls HOXA cluster silencing and mediates PRC2-repressive higher-order chromatin structure in NT2/D1 cells.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Xu M, Zhao GN, Lv X, Liu G, Wang LY, Hao DL, Wang J, Liu DP, Liang CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "25135475", "url": "https://glygen.org/publication/PubMed/25135475" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "Revisiting the arthritogenic peptide theory: quantitative not qualitative changes in the peptide repertoire of HLA-B27 allotypes.", "journal": "Arthritis & rheumatology (Hoboken, N.J.)", "date": "2015-03", "authors": "Schittenhelm Ralf B, Sian Terry C C Lim Kam, Wilmann Pascal G, Dudek Nadine L, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "493952", "url": "https://www.iedb.org/epitope/493952" } ], "reference": [ { "type": "PubMed", "id": "25418920", "url": "https://glygen.org/publication/PubMed/25418920" } ] }, { "title": "Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shinsky SA, Monteith KE, Viggiano S, Cosgrove MS", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" }, { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "25561738", "url": "https://glygen.org/publication/PubMed/25561738" } ] }, { "title": "Mass spectrometry of human leukocyte antigen class I peptidomes reveals strong effects of protein abundance and turnover on antigen presentation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-03", "authors": "Bassani-Sternberg Michal, Pletscher-Frankild Sune, Jensen Lars Juhl, Mann Matthias", "evidence": [ { "database": "IEDB", "id": "483837", "url": "https://www.iedb.org/epitope/483837" } ], "reference": [ { "type": "PubMed", "id": "25576301", "url": "https://glygen.org/publication/PubMed/25576301" } ] }, { "title": "A phosphorylation switch on RbBP5 regulates histone H3 Lys4 methylation.", "journal": "Genes & development", "date": "2015", "authors": "Zhang P, Chaturvedi CP, Tremblay V, Cramet M, Brunzelle JS, Skiniotis G, Brand M, Shilatifard A, Couture JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "25593305", "url": "https://glygen.org/publication/PubMed/25593305" } ] }, { "title": "Exploration of peptides bound to MHC class I molecules in melanoma.", "journal": "Pigment cell & melanoma research", "date": "2015-05", "authors": "Pritchard Antonia L, Hastie Marcus L, Neller Michelle, Gorman Jeffrey J, Schmidt Chris W, Hayward Nicholas K", "evidence": [ { "database": "IEDB", "id": "541826", "url": "https://www.iedb.org/epitope/541826" }, { "database": "IEDB", "id": "544740", "url": 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domains (TADs) at HOX loci.", "journal": "FEBS letters", "date": "2015", "authors": "Lonfat N, Duboule D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "25913784", "url": "https://glygen.org/publication/PubMed/25913784" } ] }, { "title": "Loss of RUNX1/AML1 arginine-methylation impairs peripheral T cell homeostasis.", "journal": "British journal of haematology", "date": "2015", "authors": "Mizutani S, Yoshida T, Zhao X, Nimer SD, Taniwaki M, Okuda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459" } ], "reference": [ { "type": "PubMed", "id": "26010396", "url": "https://glygen.org/publication/PubMed/26010396" } ] }, { "title": "Unique Role of the WD-40 Repeat Protein 5 (WDR5) Subunit within the Mixed Lineage Leukemia 3 (MLL3) Histone Methyltransferase Complex.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shinsky SA, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "26324722", "url": "https://glygen.org/publication/PubMed/26324722" } ] }, { "title": "Comprehensive Analysis of the Naturally Processed Peptide Repertoire: Differences between HLA-A and B in the Immunopeptidome.", "journal": "PloS one", "date": "2015", "authors": "Schellens Ingrid M M, Hoof Ilka, Meiring Hugo D, Spijkers Sanne N M, Poelen Martien C M, van Gaans-van den Brink Jacqueline A M, van der Poel Kees, Costa Ana I, van Els Cecile A C M, van Baarle Debbie, Kesmir Can", "evidence": [ { "database": "IEDB", "id": "439841", "url": "https://www.iedb.org/epitope/439841" } ], "reference": [ { "type": "PubMed", "id": "26375851", "url": "https://glygen.org/publication/PubMed/26375851" } ] }, { "title": "Structural basis for activity regulation of MLL family methyltransferases.", "journal": "Nature", "date": "2016", "authors": "Li Y, Han J, Zhang Y, Cao F, Liu Z, Li S, Wu J, Hu C, Wang Y, Shuai J, Chen J, Cao L, Li D, Shi P, Tian C, Zhang J, Dou Y, Li G, Chen Y, Lei M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "26886794", "url": "https://glygen.org/publication/PubMed/26886794" } ] }, { "title": "High-sensitivity HLA class I peptidome analysis enables a precise definition of peptide motifs and the identification of peptides from cell lines and patients' sera.", "journal": "Proteomics", "date": "2016-05", "authors": "Ritz Danilo, Gloger Andreas, Weide Benjamin, Garbe Claus, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "508087", "url": "https://www.iedb.org/epitope/508087" }, { "database": "IEDB", "id": "546084", "url": "https://www.iedb.org/epitope/546084" 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methyltransferase MLL4 controls cell fate transition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016-10-18", "authors": "Wang Chaochen, Lee Ji-Eun, Lai Binbin, Macfarlan Todd S, Xu Shiliyang, Zhuang Lenan, Liu Chengyu, Peng Weiqun, Ge Kai", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "27698142", "url": "https://glygen.org/publication/PubMed/27698142" } ] }, { "title": "PHF20 Readers Link Methylation of Histone H3K4 and p53 with H4K16 Acetylation.", "journal": "Cell reports", "date": "2016", "authors": "Klein BJ, Wang X, Cui G, Yuan C, Botuyan MV, Lin K, Lu Y, Wang X, Zhao Y, Bruns CJ, Mer G, Shi X, Kutateladze TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "27760318", 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Shira, Tedeschi Valentina, Vitulano Carolina, Barnea Eilon, Glaser Fabian, Melamed Kadosh Dganit, Taurog Joel D, Fiorillo Maria Teresa, Sorrentino Rosa, Admon Arie", "evidence": [ { "database": "IEDB", "id": "585171", "url": "https://www.iedb.org/epitope/585171" }, { "database": "IEDB", "id": "661527", "url": "https://www.iedb.org/epitope/661527" } ], "reference": [ { "type": "PubMed", "id": "29393594", "url": "https://glygen.org/publication/PubMed/29393594" } ] }, { "title": "Comparison of the MHC I Immunopeptidome Repertoire of B-Cell Lymphoblasts Using Two Isolation Methods.", "journal": "Proteomics", "date": "2018-06", "authors": "Lanoix Jo\u00ebl, Durette Chantal, Courcelles Mathieu, Cossette \u00c9milie, Comtois-Marotte Simon, Hardy Marie-Pierre, C\u00f4t\u00e9 Caroline, Perreault Claude, Thibault Pierre", "evidence": [ { "database": "IEDB", "id": "836641", "url": "https://www.iedb.org/epitope/836641" } ], "reference": [ { "type": "PubMed", "id": "29508533", "url": 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GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9944997", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9944997" } ], "reference": [ { "type": "PubMed", "id": "30107592", "url": "https://glygen.org/publication/PubMed/30107592" } ] }, { "title": "Chemical Derivatization Strategy for Extending the Identification of MHC Class I Immunopeptides.", "journal": "Analytical chemistry", "date": "2018-10-02", "authors": "Chen Rui, Fauteux Francois, Foote Simon, Stupak Jacek, Tremblay Tammy-Lynn, Gurnani Komal, Fulton Kelly M, Weeratna Risini D, Twine Susan M, Li Jianjun", "evidence": [ { "database": "IEDB", "id": "864849", "url": "https://www.iedb.org/epitope/864849" } ], "reference": [ { "type": "PubMed", "id": "30192525", "url": "https://glygen.org/publication/PubMed/30192525" } ] }, { "title": "A subset of HLA-I peptides are not genomically templated: Evidence for cis- and trans-spliced peptide ligands.", "journal": "Science immunology", "date": "2018-10-12", "authors": "Faridi Pouya, Li Chen, Ramarathinam Sri H, Vivian Julian P, Illing Patricia T, Mifsud Nicole A, Ayala Rochelle, Song Jiangning, Gearing Linden J, Hertzog Paul J, Ternette Nicola, Rossjohn Jamie, Croft Nathan P, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "585171", "url": "https://www.iedb.org/epitope/585171" }, { "database": "IEDB", "id": "611963", "url": "https://www.iedb.org/epitope/611963" }, { "database": "IEDB", "id": "892201", "url": "https://www.iedb.org/epitope/892201" }, { "database": "IEDB", "id": "896631", "url": "https://www.iedb.org/epitope/896631" }, { "database": "IEDB", "id": "902263", "url": "https://www.iedb.org/epitope/902263" } ], "reference": [ { "type": "PubMed", "id": "30315122", "url": "https://glygen.org/publication/PubMed/30315122" } ] }, { "title": "High-throughput determination of the antigen specificities of T cell receptors in single cells.", "journal": "Nature biotechnology", "date": "2018-11-12", "authors": "Zhang Shu-Qi, Ma Ke-Yue, Schonnesen Alexandra A, Zhang Mingliang, He Chenfeng, Sun Eric, Williams Chad M, Jia Weiping, Jiang Ning", "evidence": [ { "database": "IEDB", "id": "452461", "url": "https://www.iedb.org/epitope/452461" } ], "reference": [ { "type": "PubMed", "id": "30418433", "url": "https://glygen.org/publication/PubMed/30418433" } ] }, { "title": "The Length Distribution and Multiple Specificity of Naturally Presented HLA-I Ligands.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2018-12-15", "authors": "Gfeller David, Guillaume Philippe, Michaux Justine, Pak Hui-Song, Daniel Roy T, Racle Julien, Coukos George, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "614012", "url": "https://www.iedb.org/epitope/614012" }, { "database": "IEDB", "id": "701084", "url": "https://www.iedb.org/epitope/701084" }, { "database": "IEDB", "id": "720571", "url": "https://www.iedb.org/epitope/720571" 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"2019-09-01", "authors": "Chikata Takayuki, Paes Wayne, Akahoshi Tomohiro, Partridge Thomas, Murakoshi Hayato, Gatanaga Hiroyuki, Ternette Nicola, Oka Shinichi, Borrow Persephone, Takiguchi Masafumi", "evidence": [ { "database": "IEDB", "id": "930162", "url": "https://www.iedb.org/epitope/930162" } ], "reference": [ { "type": "PubMed", "id": "31217245", "url": "https://glygen.org/publication/PubMed/31217245" } ] }, { "title": "The MLL1 trimeric catalytic complex is a dynamic conformational ensemble stabilized by multiple weak interactions.", "journal": "Nucleic acids research", "date": "2019", "authors": "Kaustov L, Lemak A, Wu H, Faini M, Fan L, Fang X, Zeng H, Duan S, Allali-Hassani A, Li F, Wei Y, Vedadi M, Aebersold R, Wang Y, Houliston S, Arrowsmith CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "31400120", "url": 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Med.", "date": "2020", "authors": "Cuvertino Sara, Hartill Verity, Colyer Alice, Garner Terence, Nair Nisha, Al-Gazali Lihadh, Canham Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson Brian, Lynch Sally Ann, Nadat Fatima, Narasimhan Vagheesh M, Peckham Michelle, Sellers Robert, Seri Marco, Montanari Francesca, Southgate Laura, Squeo Gabriella Maria, Trembath Richard, van Heel David, Venuto Santina, Weisberg Daniel, Stals Karen, Ellard Sian, , Barton Anne, Kimber Susan J, Sheridan Eamonn, Merla Giuseppe, Stevens Adam, Johnson Colin A, Banka Siddharth", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "reference": [ { "type": "PubMed", "id": "32203228", "url": "https://glygen.org/publication/PubMed/32203228" } ] }, { "title": "Modulation of Natural HLA-B*27:05 Ligandome by Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 2 (ERAP2).", "journal": "Molecular & 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Diversifying Antigen Processing and Presentation.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Goncalves Gabriel, Mullan Kerry A, Duscharla Divya, Ayala Rochelle, Croft Nathan P, Faridi Pouya, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "546084", "url": "https://www.iedb.org/epitope/546084" }, { "database": "IEDB", "id": "614012", "url": "https://www.iedb.org/epitope/614012" }, { "database": "IEDB", "id": "930162", "url": "https://www.iedb.org/epitope/930162" }, { "database": "IEDB", "id": "1600091", "url": "https://www.iedb.org/epitope/1600091" }, { "database": "IEDB", "id": "1626511", "url": "https://www.iedb.org/epitope/1626511" }, { "database": "IEDB", "id": "1908632", "url": "https://www.iedb.org/epitope/1908632" }, { "database": "IEDB", "id": "1918940", "url": "https://www.iedb.org/epitope/1918940" } ], "reference": [ { "type": "PubMed", "id": "33968037", "url": "https://glygen.org/publication/PubMed/33968037" } ] }, { "title": "Mechanism 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"MDSQKPPAEDKDSDPAADGLAAPEKPGATEPHLPILCIGEVSVPSSGSSRLQKPPHDCSGGPARRCALCNCGEPSLHGQRELQRFELPSDWPGFPVVSSGGSSGPCEAVLPNEDLSQIGFPEGLTPAHLGEPGGHCWAHHWCAAWSAGVWGQEGPELCGVDKAVFSGISQRCSHCARFGASVPCRSPGCSRLYHFPCATASGSFLSMRTLQLLCPEHSDGAAHLEEAHCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPIEDLPAHSWKCKTCRICRACGAGSADLNPNSEWFENYSLCHRCHKVQGSQPVISVAEQHPAVCSRFSPPEPGETPTEEPSALYVTCQGQPKGTHVTSVQPKEPGPLQCEAKPLGREGTQLEAQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPTEESPLSPPPESSPFSPLEESPPSPALDTPLSPPPEASPLSPPFEESPLSPPPEELPSSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEDSPLSPPPEASRLSPPPEDSPMSPPPEDSPMSPPPEVSRFSPLPVLSHLSPLPEVSRLSPPPEESPLSPPPEDSPTSPPPEASRLSPPPEDSPASPPPEASQLSPPHEESPASPPPEDSLMSLPMEESPLSPLPEELRLCPQPEEPYLSPQPEEPRLCLQPEELPLSPQSEEPCLSPVLAEPCLSSQPEELRLSPVPQEPHLSPQPKQLHLSPQSEEPCLSPMPEEPCLYSQPEELHRSPQPQEPPEEPSQCPAPKELSLFPPSREPPLSPMLREPALSEPGEPPLSPLPEELPLSLSGEPVLSPQLMPPDPLPPPLSPIIPAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPMGPASPILMGPLPPPCSPLLQHSLPPPTPPPSHCSPPALPLSVPSPLSPVQKEVGVSGEAGLHEMETEKGPEPECPALEPRATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTTPLDGTDADPLQSQTGQNSGSLASELKGSPVLLDPEELIPVTPMEVYGPECKQAEQGSPCEEQEEPGAPMAPMPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGAGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDTGTATSGGKAEGDKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAAHGGRGRGRARLKSTTSSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDEVEQAADEGFDCVSCQPYVVKPVVPVAPPELVPVKVKEPEPQFFRFEGVWLTETGMAVLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTEELLKGEGGVEQMECEIKLEGPASPDVELGKEETEESKKRKRKPYRPGIGGFMIRQRKSHTRVKRGPAAQAEGSSGDGQPDEVMPADLPAEGSVEQSLAEGDEKKKQQRRGRRKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPGFGLGTSKPRGDGGSDRKELVTALHKGDDGPDVADEESHGPEGTADVAGLEDGAVKASPVPSDPEKPGTPGEGVLSSDLDRIPTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLALGSLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQISKQAKMGDVARKTERPALHLRIPSQPGALGSPPPAAAPTIFLGSPTTPAGLSTSADGFLKPPAGTVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYAPEPRFSAAPPTYPPYPSPTGAPVQPPMLGTTTRPGTGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVAGGKASEPLLSPPPFGESRKSLEVKKEDLGASSPGYGPPNLGCVDSPSSGPHLGGLELKAPDVFKAPLTPRASQVEPQSPGLGLRAQEPPPAQALAPSPPNHPDIFRSGPYPDPYAQPPLTPRPQPPPPESCCAPPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSTEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGPLAHTPLGAGGFPAALPSGPAGELHAKVPSGQPTHFARSPGTGTFAGTPSPMRFTFPQGVGEPSLKPPVPQPGLPSPHGINSHFGPGPTLGKPQSTNYAVATGNFHPSGSPLGPNSGPTGEGYGLSPLRPASVLPPPTPDGSLPYLSHGASQRVGITSPVEKREDPGATMSSSSVATPELSSAQDTGMSSLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGNWGAEPSGPAFDQLSRAQTPFTGSQDRNSVVGLPSSKLGGPILGPGAFSSDDRLSRPLPPATPSSMDMNSRQLVGGSQAFYQRTPYPGSLPLQQQQQQQQQQQQQQQQQQQQQQLWQQQQAAAAAATSMRLAMSARFPSTPGPELGRQALGSPLAGIPTRLPGPAEPVPGPAGPAQFIELRHNVQKGLGPGVSPFPGQGPPQRPRFYPISEEPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHQPPHTKGPTLPAGLELVSRPPSTTDLGRPPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLEHLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPISLGPEEQRPPPAPDNSEPRLTSVLPEVKPKVEEGGRHPSPCQFTINTPKVEPAPPATPLSLGLKPGQTVMGSRDTRVGVGTGPFPSSGHTAEKGPFGATGGTPAHLLNPSSLSGSAGSSLLEKFELESGTLTLPSGNVAPGDELDKMESSLVASELPLLIEDLLEHEKKELQKRQQLSAQTVLPAQPQQQQQQHQHPLLPVPGPAQALPLPHESGPPQQLALGLGSTRQPGLGQSMMAAQSPAHALQQRLAPSVAMVSNQGHMLSGQQAGQTGLVPQQSSQPVLAQKPMNAMPASMCMKPQQLAMQQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGASGSDLQNHAAAGSGQERNASDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQHSAVLAVSPSQNPRVLTKHPGQLLPGHGLQPPQVPPGGQAGGLRLPPGGMVLPGQSGGPFLNTTLAQQQQQQQQQQQQQQQQQQHSGVAGSLTGPSGSFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQQQQLLGQVAVQQQQGPVGQNQALGPKPQGLLPPSNHQGLLVQQLSPQQSQGSQGMLGSSQVAVLQQQQQQQQQQQQQQQQQHSGALGPQGPHRQVLMTQSRVLSSPQLAQQGHGLMGHRLLTAQQQQQQQQQQQQQQQQQQQGSMTGLSQLQQGMMSHGGQPKMSVQALGSLQQQQQQQQQLQQQQQQMQQLQQQQQQQLQQQQQQQMQQLQQQQQQLQQQQQQQQQQQQLHLQQQLHQQQQLQQQQLQLQQQQQQMSLLNQNRTLLSPQQQQQQQQQVTLGPGMPVKPLQHFSSPGALGPALLLTGKEQNIAETALPSEVTEGPSAHQGGPPTVGTTPESMSVEPGEVKPSISGDSQLLLVQSQPTSVQLQPPLRLPGQPQQVNLLHTTGGGSHGQQLGSGSSSEAPSGPHLLAQPSVSLGEQPGPMAQNLLGSQQPLGLERPIQNNTGSQPPKSGPAPQSGQGPPGVGVMPTVGQLRAQLQGVLAKTPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQMPPGQESGTQPSPLQGLLGCQPQPGVFSASQIGPLQELGAGSRPQGPPRLPVPQGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSAQLTPTHPGTPKPQGPASELPPGRVSPAAAQLADAFFGKGLGPWDPSDNLPEAQKPEQSSLAAGRLEQVNGQVAHEPSHLSIKQEPREEPCALGAQTVKREANGEPAGAPGTSNHLLLAGSRSEAGHLLLQKLLRAKNVQLGAGRGPEGLRAEINGHVDSKLSGQEQKLQGTSSSKEDAAARKPLMAKPKRVQKTSDRLASSRKKLRKEDGVRANEALLKQLKQELSQLPLTEPTITANFSLFAPFGSGCLVGGQSQLRGAFGSGALHTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASAQDSERTLKDAAEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPQLGSGRWEQDTRALSPVIPIIPRTSIPVFPDTKPYGVLDLEVPGKPPATAWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPDGPARAGLEPKKGETEGSGGKEKGLSGRGPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPSIQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPAEPMVELQAEPPAEPPIPSPLPLASSPEATRPKPRARPPDESEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPSKVPRDNRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATGSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSISENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5544 }, "evidence": [ { "id": "HGNC:7133", "url": "https://alliancegenome.org/gene/HGNC:7133#orthology", "database": "AGR" }, { "id": "RGD:2324324", "url": "https://alliancegenome.org/gene/RGD:2324324#orthology", "database": "AGR" }, { "id": "O14686", "url": "https://omabrowser.org/oma/group/O14686/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "A0A8M3B696-1", "protein_name": "Histone-lysine N-methyltransferase 2C", "gene_name": "kmt2d", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MDEQKSNCEENDSETAADDGTPAKESVQVEGELNAPVAAEDISGTTVDTSSSSLETVRACALCSCVERSLHGQGELQCFGPSSDRPSLESSVSTLPAAGNDDLSSIGFSESTCLASLFDDTGSCWVHHWCAVWSEGVEQTEGEVLINVDKAVVSGIQRPCDYCKRMGATIRCRAEGCSRFYHFPCSAASGSFQSMKQLALLCPEHIDKAEEIAGEEARCAVCDSVGDLSGLLYCTGCGQHYHDACLEISATPLQRSGWQCPECKVCQTCRQPGEDSKMLVCDACDKGYHTFCLLPAMDSVPPDSWKCKRCRVCIDCGMRGLKLPGSEQWFESYTVCEGCQRRRTSVCGVCSKATEPSVSLQHHCAICHRWVHSDCASLSGPPEEKCICVLCKEIPDEVSVEAEVSSMQVDEKTDLEVPVELGTELEVVEIAEVKESIMEEALRPEGTEGSTEANVHTEVSTEQQPLLATVSDVDAKQKEDETTSETVVAEAVEQKPEDTQDPPIKDSPDSPVSDTKEEAQSDVAGTNIKRQDESQDKPPQSETELDGTVKSTKAKPPSSPCSQLSQITLPVAEEEEPVAMDLEEMGSQEETINRTPPSPAPHTEMPTASDTDDRMGQSEDEEEEDEQGVEESLDDSLLKDESQCEEDQARKELQEDMKPELVLDETSNLSHGDESSSGFLGSPAEADSQMLSMELSLVPAGRTRSDSLLTETEDSLPFDPLKPDGEKVKRRGSPGRSRMKQGRGSGFPGKRRPRGGGSGGGGGRGRGRSRLKAMASCIDAFLLSMTADTGISKEEDEEEDDTMQNTVVLFSNTDKFVLQQDMCVVCGSFGQGVEGQLLACAQCAQCYHPYCVNSKITKMMLRKGWRCLECIVCEVCGKASDPSRLLLCDDCDVSYHTYCLDPPLQTVPKGGWKCKWCVCCMQCGASSPGFHCEWQNNYNHCGPCASLVTCPVCHENFMEEELLLQCQHCDRWVHAVCESLYTEDEVEQASDEGFACTACTPYVPRPVVESPMMSAFKIKEPEPQFYRLEGVWLTETGMSLLRSISMSPLHKRRQRRSRLGTMSIDELKEGDADGDEGKGGAEAMECEPKSEAPGSPDRDGGADRETGPEGGIEGMADCETLKGGVEETDDGKKRKRKPYRPGIGGFMVRQRKCHTRMRRSLSASGEGVPEGQAPETKLEEGPHPDIPLDVPEAKTAEGEGEQAKKRRGRKKSKLEDMFPTYLQEAFFGKTLLDQSKRAFLAPPTPRHTQGLLRPPLPGLGARTAASESVESTARPSGLPMELKQEGEGSKATGDGAVVGSGATGQLFNKDQSSGAAHGSDMLKNKDLPQGLERQDSEQFFRKVLGPTEGSSVSGQLQPSIKPVQEGDPNQSSCPQRNLLPGASLSGTLPSTGMMDSFSGLSQSPFFDLRDRGGLFSPDQDEESPWATPSTPATPSTPPTPTEQEGDGLSYNQRSLQRWEKDEELGNLSTISPVLYANMNFPSLKQDYPDWASRCKQIMKIWRKVSAADKVPYLQKAKDNRAAQRINKAQKQAESQVCRPIKTEPGRIKGERPNLHLQIPPPSGSVSTSSQPSSAESPYTLAPDSASSAFFPDGPLKTPCSADLQADPFSKLSSQSPHLQSQPSTPYSQPSSSPLPASSSGHCMPGPQGATQGRPSSFGSLEMQPGATRRAQQVDPFFRPQQQIPKPQEALGPPESPRPRPGGPGDAQMFSPPHMTHCGDLYRGQHGAGRQDHASSPSPSAIASSPAGVGPSRADINVPSPRSSFGRQDLNTGSPASLDSGDGLFKAPMTPRMHQGDAGGLSVSHQSGASPNHPLESYRQSPSTFSDPYAQPPLTPRPQSGDGSSPLPQRLPAAQQEAYSRLPSSPQSQGSSQSPLTPGAISNDVLSVQSPATPRFQSPDPYSRPPSRPQSRDPFASLHKPPRPSSVAPEGNSPFRGSPHPGQQPPCSPSVADPLSGKPPAFSCSPGVGIQMGPQQIVGQQHMTPQQAQVHLQQPQSQTQQVGADFNSRIALPPGNQDTAVRPSDGPHLPNIPGMQDISDMSAAQDPALMSLSPSELEKHRQRQRLREFLIRQKMQRNSLRQEKEAPVVSNPAQSWQDGEMPAFQQDKSQRAPPPYPQDRAAVTQAALASRMPLPMGVMDEKLCRPPPPGTPANMDPSALRQAGPVSQGMYPRPQFPAQWQNQGAPRRFPQPSMIEAVPRQHLTTPINNPLNMQSMQNMPNPLTTVPGTGTEAVQSHVSGAPPQFIELRHNSQRMPPGPQFMQRAPIPRARMFLPQQEMNAAFAQQNLTSSLDASAVGMRDPRLGLQQGGMDLLMQQQSNAPPPQSQLQPQQVPTTTPKTQISHTTQQLPQTTSIGSQQTGVNPVDLPESDLVDAFAPKGLSDPVAETGVEDDDLGLDLDPDKGDDDLGNLDNLEANDPHLDDLLNSDEFDLLAYTDPELDQGDPKDVFSDQLRLVEAEVEGPVSSANVEVKVEVKPKVEMASQDTRTTATQPPLKTENSSAVNTPKVESSDVISLSSVKLEDKGLVEQPQSGQASVKDDISETVSVLLSGTKASNQPDTPTANLNTVRLGGIPFPLPSQADTLSFPATAPHPDLGSDPLGLPDSGHHSTADDLDKVESSLEASELPLLIQDLLEHEKKELQKQQQLSALQGGIGSQIHSIQNQQQPPQTTNQIMMPQHHHPSQGIVPQAGMVPRPPHMFPQQQQRLISAAMPSPPHAAMGQQPGILRGGQPGRLHPGLAPQQQTTQPPHIGKQQNFFPDKDLDKFMTDDIIDPIAKAKMIALKGINRVLAQDPMGVPPGMNRQQVSLLAQRLTSAPGNEDSQPPPAPGSSKEGEGSNQVQTRPNPPQFGIINDAEQHQYEEWLVHTQQLLQMQLKFLEEQIGAHRKSRKALCAKQRTAKKAGREFAEADAEKLKLVTEEQSKIQKQLDQVRKQQKEHTNLIAEYRSKQQQHQQGSSMLAPGPSTPAPHMLSKMPGQMIGQPPGGMPQAAMPPGGMPIRMPQMQPFGAAQPSLPLGAGPVQPPPGFFPQGPGPQAPDPRVLQERQYKMQMVQKMQQQQQQLMMAQQPMSHQPQQPGIMNQQPGAMGSQPAQVLMGSLGQPNLQQGLINSQQNQQGLVQTPPGMMGNQALGQTQHNVMGQQMTQTANLMAGQPQGMVGNQQIVQQLQRPQVLMDQHGPVGQHVVRGPPTQLTPQQQSVMAQRMLMSQQQQNAAKSLAQLQQQQILQLKQQAGPSEPQRALEAPSSGGNQGVAENLQQGVQDHQNPNKDGGLLSPKTPPQQGGPPTPLQMQQGSSGEQQCVVGQPQQQHAFLGQQQTAQPQTNQNIGVAEQHGFVDNQQAGPHLKVQPPQPQMQIGLQTQTKIQIKQEDQQMCFMAQQQAGQIAAQQPQGVAVQNSGQTMGNITNQQQQALLTQQMGIPRAQQMMMTQRPGAPAGQIRTSINIQAFIAQNPQLRHLTPSQQLQQIQAMLAQRQLQQGQMLRLQGQAQGQMRPQVLQGPSVGPRIPVIETQQQQHRFGLAGKHGSSTQQQPGVIRQQSGMAPQFHQGVIGAMQQPSQGPLPQYINSAQQQQMIQQQQVHQHQMMRGQVPRPIMGQVRNTAPGHLARPMSPRQLLGQGSPGSPLSNQQRLVRMSQTPPGTQHLQQQTHGTTALSPFQASPSHAGSPAGSSVPEAGSPSLNKPEPGNMALSSNLSSPSRPEGIVGKSSPFSQTGGLIPSPLRSPTAKTQSPNTEALSAPFPLNGPSSQVAQNQAPNSGQISGGHTSQPTQMPSEMCKMTLQNIKQEPREVQCDTGNIVETHSDGIKREISGESVSGSGIVNSAVGSRNQAGDIGSQIQRTETGQQLLQKLLRTKNLQVAAQRPSDGIHNEINGHINNKLAMLEQKLQGTPRNMEDLQSLTKRAPIVKAKRTAKAGERGPNSRKKTKKEEVGKTEAIMKQLKQGLSLLPLMEPSITASLDLFAPFGSSPANAKTQLKGSFGNAILDNIPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQHKLLNGVTQVEELAEGQKETEASEDTIGSVPEEVKSVDILAALPTPPHNQNEDIRMESDDDSDASDSIVPASSPESQLGDETTRFPSLLDPKEEEEERAISPVIPIIPRSTIPNFSETKPFESVDGKVVASSSQWDKAKSNEVSVTFMLSSAAAKNLNTVMLAVAQLLHIRMPSSYELAFPQSPGRVGAGPGKVPDSSNPGLKTDASVSNDAEWLKQFDVSLPGCTLRKQVDILALIKQESQEQEDKPAQHCYMTNVSDLDVRHLPVIPVEVSPPPSPSPPPPPSSTVAEPENTTQPEPKPESEATVQTTSSPSASPSAPVKTEILVKQESHCSPVTVEPESHEPAVLPIAVPPPQEQPSAPASSPPLDSPTIEISLKSIKHRSRPLSDEEQRPKVKKWKGLRWKRLQIVITIRKGGSKKESSREVSELMERLRITLKPDKLPRDKRKCCFCHEEGDGATDGPARLLNIDVDLWVHLNCALWSTEVYETQGGALINVEVALRRGLRTRCAYCQKTGATNSCNRLRCPNVYHFACAIRARCMFFKDKTMLCTQHKLKGPSEEELSSFAVFRRVYIERDEVKQIASILQRGDRIHLFRVGGLIFHAVGQLLPSQMAVFHSPSAIYPVGYEATRIYWSTRVPNRRCRYRCRISEQDGRPLFEVRVLEHGYEDLHFRDSTPDGIWAKIVHQVAKLRDEAAMLKLFTEHVRGEEMYGLTVHAVMRITESLPGVESCQDYTFRYGRHPLMELPLMINPTGCARSEPKILTHCKRPHTLNSTSMSKAYQSTFTGEINTPYSKQFVHSKSSQYRRLKTEWKTNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYVNHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 4967 }, "evidence": [ { "id": "HGNC:7133", "url": "https://alliancegenome.org/gene/HGNC:7133#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-060223-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-060223-2#orthology", "database": "AGR" }, { "id": "MGI:2682319", "url": "https://alliancegenome.org/gene/MGI:2682319#orthology", "database": "AGR" }, { "id": "FB:FBgn0023518", "url": "https://alliancegenome.org/gene/FB:FBgn0023518#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0ABK0LYY3-1", "protein_name": "Histone-lysine N-methyltransferase 2C", "gene_name": "Kmt2c", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSEEDRSAEQQQPPPAPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKSTVEDEDSTDGLETTETENIVETAEVKEQSVEEDAETEVESSKQPASALQRSVSEDSAHSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRVTPGLTLPWKDQPSNKDVGDSGIATCEKIQNYAPRKQRGQRKERSLQQSIVSCVSVSTQTACEDQPGKLWDELSLVGLPDAIDVQALFDSTGTCWAHHRCVEWSLGICQMEEPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAGTFQDFSHFFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQFFCTTCGQHYHGMCLDIAVTPLRRAGWQCPECKVCQNCRQSGEDSKMLVCDTCDKGYHTFCLQPVMKSVPTNGWKCKNCRICIECGTRSSAQWHHNCLICDTCNQQQDNLCPFCGKCYHPELQKDMLHCNMCKRWVHLECDKPTDQELDSQLKEEYICMYCKHLGAEIDPLHPGNEVEMPELLPTDDSSGMEIEGTEDEVVFLEQTVNEDVSGHQSPPGIVPDAVQVYTEEPQKSDPLESPDTVGLITSESSENKTNPDLANEISHEVDTEKTEMFYKEGLVCEEDQSEDRMEVTENIEVLPHQTIVPQEELLPSEGSEVAPEEPSPSESAVELAAPEALVSPHSESSLSHKGPLVIERVQEEMEQKENSEFPTGCEDFEMTLAVDGCVKGSSCQGDKSAELPAEEESPFSSGTDLNKADVSSSSTLRPDLPSCDMLHGYPSAFNSAAGSVMPTTYISVTPKIGMGKPAITKRKFSPGRPRSKQGAWSNHNTVSPPSWSPDIAEGREIFKPRQLSGSAIWSIKVGRGSGFPGKRRPRGAGLSGRGGRGRSKLKSGLGAVVLPGVSAADISSNKDEEENSMHNTVVLFSSSDKFTLHQDMCVVCGSFGQGEEGRLLACSQCGQCYHPYCVSIKITKVVLSKGWRCLECTVCEACGKATDPGRLLLCDDCDISYHTYCLDPPLQTVPKGGWKCKWCVWCRHCGATSAGLRCEWQNNYTQCAPCASLSSCPVCCRNYREEDLILQCRQCDRWMHAVCQNLNTEEEVENVADIGFDCSMCRPYMPVSNVPSSDCCDSSLVAQIVTKVKELDPPKTYTQDGVCLTESGMSQLQSLTVTAPRRKRTKPKLKLKIINQNSVAVLQTPPDIQSEHSRDGEMDDSREGELMDCDGKSESSPEREAGDDETKGIEGTDGVKKRKRKPYRPGIGGFMVRQRSRTGQGKAKRSVVRKDSSGSISEQLSNRDDGWREQFPDTLVDEPVSVADSTEKIKKRYRKRKNKLEETFPAYLQEAFFGKDLLDTSRQNKLSVDNLSEDAAQLSYKTGFMDPSSDPLLCSSSASAKPGTQGTADDPLADISEVLNTDDDILGIISDDLAKSVDHSGLDLCTFQVGSSPFPLDIGPIADDASSLPQPSVSQSSRPLSEEQLDAILSPELDKMVTDGAILGKLYKIPELGGKDVEDLFTAVLSPAPTQPAPLPQPPPPQPLPVHTQDVFSRMPLMNGLIGPSPHLPHHSLPAGSALGTFPAIAQSPYTDVRDKSLAFNVMASDANSSWVPTAPSMEGENDSLSNAQRSTLKWEKEEALGEVATVAPVLYTNINFPNLKEEFPDWTTRVKQIAKLWRKASSQERAPYVQKARDNRAALRINKVQMSNDSMKRQQQQDSIDPTSRIDSDLFKDPLKQRESEHEQEWKFRQQMRQKSKQQAKIEATQKLEQVKNEQQQQQQQQQQQQQQQQQQQQQQQQQQLASQHLLVAPGSDPPSSGAQSPLTPQTGNGSVSPAQTFHKDLFSKHLPSTPASIPSDDVFVKPQPPPPPSTPSRIPNQESLSQSQNSQPPSPQMFSPGSSHSRPPSPVDPYAKMVGTPRPPPVGHSFPRRNSVTPVENCVPLSSVPRPIHMNETSATRPSPARDLCASSMTNSDPYAKPPDTPRPMMTDQFPKPFSLPRSPVISEQSTKGPLAAGASDHFTKPSPRTDAFQRQRLPDPYAGPSLTPAPLGNGPFKTPLHPPPSQDPYGSLSQASRRLSVDPYERPALTPRPVDNFSHNQSNDPYSQPPLTPHPAMGESYTHSSRAFSQPGTISRSASQDPYSQPPGTPRPVIESYSQTSGTARSNQDPYSQPPGTPRPNTIDPYSQQPPTPRPSPQTDMFVTSVASQRHTDPYTHHLGPPRSGISVPYSQPPAAPRPRTSEGFTRSSSARPALMPNQDPFLQAAQNRVPGLPGPLIRPPDTCSQTPRPAGPGLTDTFSHASPSGVRDPYDQPPMTPRPHSESFGASQVVHDLVDRPVPGSEGNFSTSSNLPVSSQGQQFSSVSQLPGPVPTSGGTDTPNTVNMSQADTEKLRQRQKLREIILQQQQQKKIASRQEKGPQDTAVVPHPLPLPHWQPESINQAFTRPPPPYPGNTRSPVIPPLGPRYAVFPKDQRGPYPPEVAGVGMRPHGFRVGFPGASHGPMPSQDRFHVPQQIQGSGIPPNIRRPMSMEMPRPSNNPPINNPVGLPQHFPPQGLPVQQHNILGQAFIELRHRAPDGRSRLPFAASPGSAMESPSHPRHGNFLPRPDFPGPRHTDPIRQPPQCLPNQLPVHANLEQVPPSQPEQGHPAHQSSIVMRPLTHPLSGEFSEAPLSTSTPTETPPDNLEIAGQSSDGLEEKLDSDDPSVKELDVKDLEGVEVKDLDDEDLENLNLDTEDGKGDDLDTLDNLETNDPNLDDLLRSDEFDIIAYTDPELDLGDKKSMFNEELDLNVPIDDKLDNQCVSVEPKIRDQGDKTMVLEDKDLPQKKSSGISEIKTEALSPHSKEEPESDIKNCDDSRGDAEIACSQASGQTSHSDRGKPSLLTTDQEMLEKRNNRENAAPGVCAIQESTPLPAQDVMNSCDITGSTPVLSSLLSNEKCDSSDIRPSVSSPPTLPISPSTHGSSLPPTLIPPGPLLDNTMNSNVTVVPRVNHAFSQGVPVNPGFLQGQSSVNHLGTGKPTNQTVPLTNQSSTSGMPGPQQLMMPQTLAQQSRERPLLLEEQPLLLQDLLDQERQEQQQQRQMQAMIRQRSEPFFPNIDFDAITDPIMKAKMVALKGINKVMAQNSLGMPPMVMSRFPFMGPSMAGVQTSEGQTLMPQAVAQDGSITHQISRPNPPNFGPGFVNDSQRKQYEEWLQETQQLLQMQQKYLEEQIGAHRKSKKALSAKQRTAKKAGREFPEEDAEQLKHVTEQQSMVQKQLEQIRKQQKEHAELIEDYRIKQQQQQQQQQQQQQQQQQQQQQCALAPPILMPGVQPQPPLVPGASPLTMSQPNFPMVSQQLQHQQHTAVISGHTSPARMPGLPGWQSSSAPAHLPLNPSRIQPPTAQLSLKTCTPAPGAVSSANPQNGPPPRVEFDDNNPFSESFQERERKERLREQQERQRVQLMQEVDRQRALQQRMEMEQHGLMGAELANRTPVSQMPFYASDRPCDFLQPPRPLQQSPQHQQQIGPVLPQQTVQQGSVNSPPNQTFMQTNERRQVGPTPFVPDSPSASGGSPNFHSVKQGHGNLSGSSFQQSPLRPPFTPILPGKPPVANSSVPCGQDPAVTAQGQNFSGSSQSLIQLYSDIIPEEKGKKKRTRKKKKDDDAESSKAPSTPHSDCTAPPTPGLSETTSAPAVSTPSELPQQRQQEAVEPVRVPTPNVATGQPCIESENKLPSSEFIKETSSQQTPVSSEADKPSGEASNKSEERKLETAEIQPCPSQEDTKVEEKTGSKIKDTAAGPVSSIQCPSNPARTPVTKGDTGNELLKHLLKNKKASSLLTQKPEGTLSSDESSTQDGKLVEKQNPAEGLQTLGAQMQGGFGGGNSQLPKTDGGSETKKQRSKRTQRTGEKAAPRSKKRKKDEEEKQAVCSSSDSFTHLKQQLSLLPLMEPIIGVNFAHFLPYGSGQFNSGTRLLGTFGSAALEGVSDYYSQLIYKQNNLSNPPTPPASLPPTPPPMACQKMANGFATTEELAGKAGVLVSHEVTRALGPKPFQLPFRPQDDLLARAIAQGPKTVDVPASLPTPPHNNHEELRIQDHYGDRDTPDSFVPSSSPESVVGVEVNKYPDLSLVKEEPPEPVPSPIIPILPSISGRDSESRRNDIKTEPGTLFFTSPFGSSPNGPRSGLISVAITLHPTAAENISSVVAAFSDLLHVRIPNSYEVSSAPDVPSMGLVSSHRINPGLEYRQHLLLRGPPPGSANPPRLATSYRLKQPNVPFPPASNGLSGCKDSSHGIAEGTSLRPQWCCHCKVVILGSGVRKSFKDLTFANKGSRESTRRTEKDIVFCSNNCYILHSTTAQAKISDNKEPLPSLPQSPMKEPSKAFHQYSNNISTLDVHCLPQFQEKVSPPASPPITFPPAFEAAKVESKPDELKVTVKLKPRLRTVPVGLEDCRPLNKKWRGMKWKKWSIHIVIPKGTFKPPCEDEIDEFLKKLGTSLKPDPVPKDYRKCCFCHEEGDGLTDGPARLLNLDLDLWVHLNCALWSTEVYETQAGALINVELALRRGLQMKCVFCHKTGATSGCHRFRCTNIYHFTCATKAQCMFFKDKTMLCPMHKPKGIHEQELSYFAVFRRVYVQRDEVRQIASIVQRGERDHTFRVGSLIFHAIGQLLPQQMQAFHSSKALFPVGYEASRLYWSTRYANRRCRYLCSIEEKDGRPVFVIRIVEQGHEDLVLSDSSPKDVWDKILEPVACVRKKSEMLQLFPAYLKGEDLFGLTVSAVARIAESLPGVEACENYTFRYGRNPLMELPLAVNPTGCARAEPKMSAHVKRPHTLNSTSTSKSFQSTVTGELNAPYSKQFVHSKSSQYRRMKTEWKSNVYLARSRIQGLGLYAARDIEKHTMVIEYIGTIIRNEVANRKEKLYESQNRGVYMFRMDNDHVIDATLTGGPARYINHSCAPNCVAEVVTFERGHKIIISSNRRIQKGEELCYDYKFDFEDDQHKIPCHCGAVNCRKWMN", "length": 4999 }, "evidence": [ { "id": "FB:FBgn0023518", "url": "https://alliancegenome.org/gene/FB:FBgn0023518#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6PDK2-1", "protein_name": "Histone-lysine N-methyltransferase 2D", "gene_name": "Kmt2d", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDSQKPPAEDKDSDPAADGLAAPEKPGATEPDLPILCIGEVSVPGSGGSRPQKPPHDCSRGPARRCALCNCGEPGLHGQRELQRFELPSDWPGFPVVPSGGNSGPCEAVLPKEDASQIGFPEGLTPAHLGEPGGHCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCARFGASVPCRSPGCSRLYHFPCATASGSFLSMKTLQLLCPEHSDGAAHLEEARCAVCEGPGQLCDLLFCTSCGHHYHGACLDTALTARKRASWQCPECKVCQSCRKPGNDSKMLVCETCDKGYHTFCLKPPMEDLPAHSWKCKTCRLCRACGAGSAELNPNSEWFENYSLCHRCHKAQGSQPVTSVAEQHPAVCSRLSPPEPGEIPIDAPDALYVACQGQPKGGHVTSMQPKELAPLQCEAKPLGRAGTQLEAQLEAPLHEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPTEESPLSPPPESSPFSPLEGCPPSPALDTPLSPPPEASPLSPPFEESPLSPPPEELPSSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEDSPLSPPPEASRLSPPPEDSPMSPPPEDSPMSPPPEVSRFLPLPVLSHLSPLPEVSRLSPPPEESPLSPPPEDSPASPPPEASRLSPPPEDSPASPPPEASRLSRPREDSPASPPPEDSLVSLPMEESPLSPLPEELRLCPQPEEPYLSPQPEEPRLCPQPEELPLSPQSEEPCLSPVLVEPGPSSQPEEPHLSPVPQEPHLSPQPEEPHLSPQPQQLHLSPHSEEPCLSPMPEEPCLSPQPEELNGPPQPAEPPEEPSQSSAPKELSLFSPSGEPPLPPMLGEPALSEPGEPPLSPLPEELPLSLSGEPVLSPQLMPPDPLPPPLSPIIPAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPLGPASPILMERLPPPCSPLLPHSLPPPTPPPSHCSPPALPLSVPSPLSPVQKAVDVSDEAELHEMETDKGPEPECPALEPRATSPLPSPLGDLSCPAPSPAPALDDFSGLGEDTAPLDGTGQMSGSLAGELKGSPVLLDPEELTPVTPMEVYGPECKQAGQGSPCEEQEEPGAPMAPMPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDTGTATSGGKAEGDKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAAHGGRGRGRARLKSTTSSVETLVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPVCHAPYVEEDLLIQCRHCERWMHAGCESLFTEDEVEQAADEGFDCVSCQPYVVKPVVPVAPPELVPVKVKEPEPQFFRFEGVWLTETGMAVLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDDLLKGEGGVEQMECEIKLEGPASPDVELGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRVKRGPAAQAEVLSGDGQPDEVMPADLPAEGSVEQSLAEGDEKKKQQRRARKKSKLEDMFPAYLQAAFFGKDLLDLSRKALFAVGVGRPGFGLGASKPRADGGSDRKELMTAMHKGDDGPDVADEESHGPEGTADLPGLEDGGVKASPVPSDPEKPGTPGEGVLSSDLDRIPTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGGRTSLQRPFLQGGLALGSLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRISKVQKQAESQISKQAKMGDIARKTDRPALHLRIPSQPGALGSPPPAAAPTIFLGSPTTPAGLSTSADGFLKPPAGTVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYAPEPRFSAAPPTYPPYPSPTGAPAQPPMLGTTTRPGTGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVAGGKASEPLLSPPPFGESRKSLEVKKEELGASSPGYGPPNLGCVDSPSAGPHLGGLELKAPDVFKAPLTPRASQVEPQSPGLGLRAQEPPPAQALAPSPPSHPDVFRSGPYPDPYAQPPLTPRPQPPPPESCCAPPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGPLAHTPLGAGGFPAALPSGPAGELHAKVPSGQPTNFARSPGTGTFVGTPSPMRFTFPQGVGEPSLKPPVPQPGLPSPHGINSHFGPGPTLGKPQSTNYAVATGNFHPSGSPLGPNSGPTGEGYGLSPLRPASVLPPPAPDGSLPYLTHGASQRVGITSPVEKREDPGATMSSSSLATPELSSAQDAGISSLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGNWGAEPSSPAFEQLSRGQTPFTGSQDRSSIVGLPASKLGGPTLGPGAFSSDDRLARPLPPATPSSMDMNSRQLVGGSQAFYQRTPYPGSLPLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQLWQQQQQQQQQQQQQAAAAAAATSMRLAMSARFPSTPGPELGRQALGSPLAGIPTRLPGPAEPVPGPAGPAQFIELRHNVQKGLGPGVSPFPGQGPPQRPRFYPVSEELHRLAPEGLRGLAVPGLPSQKPSALPAPELNNSLHQTPHAKGPALASGLELVSRPPSNTELSRPPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPVSLGPEERPPPAPDNSEPRLTSVLPEVKPKVEEGGRHPSPCQFTINTPKVEPAPPATSLSLGLKPGQTVMGTRDTRGGVGTGSFPSSGHTAEKGPFGATGGTPAHLLNPSSLSGPAASSLLEKFELESGALTLPSGHAAAGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQTVLPAQQQQQQQQQQQQQQQQHTLLPTPGPAQALPLPHEPGPPQQLALGIGSTRQPGLGQSMVPIQPPAHALQQRLAPSVAMVSNQGHMLSGQQAGQTGLVPQQSSQPVLAQKPMSAMPASMCMKPQQLAMQQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGSGSDLQNHVAPGSGQERNAGDPAQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQQHSAVLAVSPSQNPRVLTKLPGQLLPAHGLQPPQAPPGGQAGGLRLPPGGMVLPGQSGGPFLNTTLAQQQQQQHSGVAGSLTGPPGSFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQQQQHLLGQVAIQQQQGPGVQNQALGPKPQGLLPPSNHQGLLVQQLSPQQSQGSQGLLGPAQVTVLQQQQQQQQHSGALGPQGPHRQVLMTQSRVLSSPQLAQQGHSLMGHRLLTAQQQQQQQQQQQQQQQQQQQQQQQQQGSMTGLSQLQQGMMSHGGQPKMSAQALGSLQQQQQQLQQQQMLQQQQLQQQQQQLQQQQQQQQLQQQQQQQLQLQQQQQQQQQHLQHQQQQQQQLQQQQQLQQQQQQQLHLQQQLHQQQQLQLQQQQMGLLNQNRTLLSPQQQQQQQQQQQQQQQQQQQQQQQQQQVTLGPGLPVKPLQHFSSSGALGPTLLLTGKEQNNAETALPSEVTEGPSTHQGGPPAVGTAPEPMSVEPGEVKPSISGDSQLLLVQSQAQSQATSVQLQPPLRLPGQPQPQVNLLHTAGGGSHGQQLGSGSSSESPAVPHLLAQPSVSLGEQPGPMAQNLLGSQQPLGLDRPIQNNTGSQPPKSGPAPQSGQGPPGAGVMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPFQEPGTQPSPLQGLLGCQPQPGGFSVSQTGPLQELGAGSRPQGPPRLPVPQGALSTGPVLGPAHPTPPPSSPQEPKRPSQLPSPSAQLTPTHPGTPKPQGPALELPPGRVSPAAAQLADTFFGKGLGPWDPSDNLTEAQKPEQSSLVPGHLDQVNGQVVHEPSQLSIKQEPREEPCALGAQTVKREANGEPAGAPGTSNHLLLAGSRSEAGHLLLQKLLRAKNVQLGAGRGPEGLRAEINGHIDSKLSGLEQKLQGTSSNKEDAATRKPLPAKPKRVQKTSDRLPSSRKKLRKEDGVRANEALLKQLKQELSQLPLTEPTITANFSLFAPFGSGCLVSGQSQLRGAFGSGALHTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSDELGERPKDTASAQDSEGALRDAAEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPQLGSGRWEQDNRALSPVIPIIPRTGIPVFPDTKPYGVLDLEVPGKLPATAWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPDGPARAGLEPKKGEAEGPGGKEKGLSGKGPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPSIQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPAEPMVELQAERPAEPPIPSPLPLASSPESARPKPRARPPEESEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGHQEDEREVAEFMEQFGTALRPSKVPRDNRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPVHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSISENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN", "length": 5588 }, "evidence": [ { "id": "HGNC:7133", "url": "https://alliancegenome.org/gene/HGNC:7133#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-060223-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-060223-2#orthology", "database": "AGR" }, { "id": "MGI:2682319", "url": "https://alliancegenome.org/gene/MGI:2682319#orthology", "database": "AGR" }, { "id": "FB:FBgn0023518", "url": "https://alliancegenome.org/gene/FB:FBgn0023518#orthology", "database": "AGR" }, { "id": "O14686", "url": "https://omabrowser.org/oma/group/O14686/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8IRW8-1", "protein_name": "Histone-lysine N-methyltransferase trr", "gene_name": "trr", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MNIPKVTTSLGAAEKAKPERVASVAAAAFNAVSLQKRSGDDTATPAEDPTRKKAKTELLLGTGTAAPSLPAKASSTAPQQLLYQRSGQQAKAQVKAASEPQDVETADGVWDARDQQIIVCNFGSGTEMGAIKAEDADKQSEYRISTPRNSQSNPLLHRNTAFTSFTKKEGASSSASSSSSTASVISIEPSGSGQDHAENSGKSEDLDYVLMPASGADSSTSVGNSTGTGTPAGTPIGATTSTIILNANNGTAGVSGAGTTTILTQKSGHTNYNIFNTTATGSQTPTTTLLNRVNLHPKMKTQLMVNAKKLSEVTQTTAKVSIGNKTISVPLLKPLMSASGAATAGGATIVESKQLLQPGGQVTTVMSAAQQSGGQQVHPHVHSHAHHNFTKLIKRGPKNSGTIVSFSGLQIKPANTKIVATKVVSKKMLQLQQHQQQIQQQQQLQQLQVTSGGGLAPPTGSIVTITTTNPSQTYAMVQDSATVGPAAHSEDDAPAPRKITAYSENLQKILNKSKSQESTGGPEEFTNINSVVIKPLDKNTLNCPPSFNIFKQQQHSQAAQSQSISAVGSGAGTPVTFTMASGNASDLATTSTVSVSAGTICINSPMMGTRPIISIQNKNISLVLSKTTMAQQKPKMITTTTLSSQAALQMHHALIQDSSADKAGSSANSGSATSGASMQLKLTTANTPTKLSVSLAPDVVKLEEVGSESKAKLLVKQEAVVKDSTGTPTSEERAEEIGTPEKRLNANATMTAINQVQNQSANQIQMATSTSTASNPSTPNPTVNATPMNNQRSAAEDNALLKQLLQNNSSSHSLNQISITSAHVGSASASAPLSARKVINVRAPSMGKVRSLEDQLARPVIPPVPTATQAAGSSSSSGSVATSTTTTTVASGGSSQQVATASATALPVSAVAITTPGVGGEAKLEQKSDQPAAIMQNQSQNQAPPPPPPPQQQQQQQLHQPQQLQPSPHQVKQTVQIVSKETSFISGPVAAKTLVTEATSKPAELLPPPPYEMATAPISNVTISISTKQAAPKELQMKPKAVAMSLPMEQGDESLPEQAEPPLHSEQGATAAGVAPHSGGPLVSAQWTNNHLEGGVATTKIPFKPGEPQKRKLPMHPQLDEKQIQQQAEIPISTSLPTTPTGQGTPDKVQLISAIATYVKKSGVPNEAQPIQNQSQGQVQMQAQMQATMQGHLSGQMSGQISGHAAGQIPAQMHLQVQHQLHMAVHPQQQQQQLHQNQPQNATIPLPVTGQGAVPIPVPTMESKAGDQRKRRKREVQKPRRTNLNAGQAGGALKDLTGPLPAGAMVQLAGMPPGTQYIQGAASGTGHVITSTGQGVTLGGVGASTGASSSPMLKKRVRKFSKVEEDHDAFTEKLLTHIRQMQPLQVLEPHLNRNFHFLIGSNETSGGGSPASMSSAASAGSSSAGGGKLKGGSRGWPLSRHLEGLEDCDGTVLGRYGRVNLPGIPSLYDSERFGGSRGLVGGSARTRSPSPAESPGAEKMLPMSSIQNDFYDQEFSTHMERNPRERLVRHIGAVKDCNLETVDLVESEGVAAWATLPRLTRYPGLILLNGNSRCHGRMSPVALPEDPLTMRFPVSPLLRSCGEELRKTQQMELGMGPLGNNNNNNYQQKNQNVILALPASASENIAGVLRDLANLLHLAPALTCKIIEDKIGNKLEDQFMNQDDEKHVDFKRPLSQVSHGHLRKILNGRRKLCRSCGNVVHATGLRVPRHSVPALEEQLPRLAQLMDMLPRKSVPPPFVYFCDRACFARFKWNGKDGQAEAASLLLQPAGGSAVKSSNGDSPGSFCASSTAPAEMVVKQEPEDEDEKTPSVPGNPTNIPAQRKCIVKCFSADCFTTDSAPSGLELDGTAGAGTGAGPVNNTVWETETSGLQLEDTRQCVFCNQRGDGQADGPSRLLNFDVDKWVHLNCALWSNGVYETVSGALMNFQTALQAGLSQACSACHQPGATIKCFKSRCNSLYHLPCAIREECVFYKNKSVHCSVHGHAHAGITMGAGAGATTGAGLGGSVADNELSSLVVHRRVFVDRDENRQVATVMHYSELSNLLRVGNMTFLNVGQLLPHQLEAFHTPHYIYPIGYKVSRYYWCVRRPNRRCRYICSIAEAGCKPEFRIQVQDAGDKEPEREFRGSSPSAVWQQILQPITRLRKVHKWLQLFPQHISGEDLFGLTEPAIVRILESLPGIETLTDYRFKYGRNPLLEFPLAINPSGAARTEPKQRQLLVWRKPHTQRTAGSCSTQRMANSAAIAGEVACPYSKQFVHSKSSQYKKMKQEWRNNVYLARSKIQGLGLYAARDIEKHTMIIEYIGEVIRTEVSEIREKQYESKNRGIYMFRLDEDRVVDATLSGGLARYINHSCNPNCVTEIVEVDRDVRIIIFAKRKIYRGEELSYDYKFDIEDESHKIPCACGAPNCRKWMN", "length": 2431 }, "evidence": [ { "id": "HGNC:7133", "url": "https://alliancegenome.org/gene/HGNC:7133#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-060223-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-060223-2#orthology", "database": "AGR" }, { "id": "MGI:2682319", "url": "https://alliancegenome.org/gene/MGI:2682319#orthology", "database": "AGR" }, { "id": "FB:FBgn0023518", "url": "https://alliancegenome.org/gene/FB:FBgn0023518#orthology", "database": "AGR" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9W1H0-1", "protein_name": "2.1.1.370", "gene_name": "Lpt", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSTNVVVSMEEKAVADDLPYFPEKFPGKVCCLCNLGEKSALGQGEILQLKAPAPAEIKDKYPTDRLREDGSRLLYGPKQAASSSGDCHYELDKIGQPDVVHPAEFLDEGFVYVHRMCIMWSLRKSQISDADGAYFATHFAEFLEQKCNFCGRYGASINCKMNCRQVHHWPCAAAAGCLLILESFTVFCTEHLSQVPVICSDNNVECLSCSSLGDLSKLIMCSTCGDHFHSTCIGLANLPDTRSGWNCARCTKCQICRQQDSNDTKYVKCEQCQKTYHASCLRPVISAIPKYGWKCNRCRVCTDCGSRTPGGGSSSRWHSHYTICDSCYQQRNKGFSCPICQKAYRAASHKEMVKCSWCNKFVHSTCDEEADLTAYHKKKEQNPDYDYVCPNCKSNSSGPGSSQQTIDSIVLSAMDSSSEQLSLKEIELDPLEGKPTMDPSSDELHKLPTGKKKVCLTSVRGRSGKFVLHRMGVMSQINKKRSTRGKGRQLALPTISSDRCLSRSMETDLTSDKKLLLCSARDKFIQAQDICVMCGSLGIESDSVMITCAQCGQCYHPYCAGVKPSRGILQKGWRCLDCTVCEGCGKKNDEARLLLCDECDISYHIYCVNPPLETVPTGNWKCSFCTLCQKCGRNPTEKSEFGDSNMLECPSCTSQSSCPVCKVSYSNGEMIIQCEHCELWAHFHCDSVNAQLTIDHYDNNVYKCFKCRCSTRSTNSLADAKFGNEDSLAITPQGSKPFVHITASSGPSFDSKSGAERNHPTLSGDMPESAPEALHWIDGVCLSESGLGMIKSLSTEIKRKRKMRQALGNGKDGQLEAAAEEALEKYKDGMVWDGTENAIPEGFTISINDEGVNILRKKRQRNLQKLGIGGFSVRNRGLKKDSEETTAVDQINSLMTMDKKKKIIRKKQKNKLIEAYPVYLQEAFFGKPLLEGGELVMADTDSSDEIDASMKVYFTRPEGKSPANQDTLAVNKSPAKTVKKVKAELKTENKTVFIQQMPMGIQNKNGTTPVSNVFDPLQAEISNTVFANRHPLDALASPNVPELDMANSVSTVPSAEVIEKPMRESPAVLVDSFMVPNQLPQEQKFHNQLYLGGNTLVNPAQQLQFRQQAPQNANKQNMQTIMSQVVLQTEKRPEEEQKVVEPVTETLNAGTQKTAEKMRKDEDLGLMATISAVLYANTEHPNLKELFPIWNDRCKQILKRWRSLCNEKKAPFLQKAKDNRSALRQRREQNKIPMPPKPQKQEEMGRVWKQPPKLKEDQPNMFVTYNGNAYDMGNYVGGSAQAASNNPNPHHVMPNVNDNLVIKATMQRTQVHTTAASTLKMTTVDNRLELNTAVYGTEPIGDKKLRNLLQKNSTEPMLMGANSDLFLGNDVMRLGMMQNTPITQNNPMLSISGKSQPSEGRSLEQDVKLGEPQEATSSAVELENVGFSDLLGGLGEGDDDDLLKSLTSEMGDDFNILEYADPELDVNVLNSLDFDDNEKCST", "length": 1482 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-060223-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-060223-2#orthology", "database": "AGR" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "histone H3K4 methyltransferase activity", "id": "GO:0042800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042800", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "histone H3K4 monomethyltransferase activity", "id": "GO:0140945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140945", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "acyltransferase activity", "id": "GO:0016746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "positive regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033148", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "beta-catenin-TCF complex assembly", "id": "GO:1904837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904837", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "oocyte growth", "id": "GO:0001555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001555", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O14686", "url": "https://www.uniprot.org/uniprotkb/O14686" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1210, "end_pos": 1212, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1602, "end_pos": 1604, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2579, "end_pos": 2581, "annotation": "n_glycosylation_sequon" }, { "start_pos": 284, "end_pos": 286, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2943, "end_pos": 2945, "annotation": "n_glycosylation_sequon" }, { "start_pos": 342, "end_pos": 344, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3979, "end_pos": 3981, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4166, "end_pos": 4168, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4572, "end_pos": 4574, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4615, "end_pos": 4617, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4686, "end_pos": 4688, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4897, "end_pos": 4899, "annotation": "n_glycosylation_sequon" }, { "start_pos": 5356, "end_pos": 5358, "annotation": "n_glycosylation_sequon" }, { "start_pos": 5474, "end_pos": 5476, "annotation": "n_glycosylation_sequon" }, { "start_pos": 989, "end_pos": 991, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "60264", "name": "", "equation": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q03164-1", "Q9NVD3-1", "Q8WTS6-1", "Q9UMN6-1", "O14686-1", "Q8NEZ4-1", "Q9UPS6-1", "O15047-1" ], "evidence": [ { "id": "60264", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60264" } ] }, { "id": "R-HSA-5159245", "name": "SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)", "equation": "", "summary": "Tri-methylation of lysine-5 of histone H3 (H3K4) has been linked to transcriptional activation in a variety of eukaryotic species (Ruthenberg et al. 2007). Several H3K4 methyltransferases have been identified in mammals, predominantly members of the Mixed Lineage Leukemia (MLL) protein family. Five of these, KMT2A (MML1), KMT2D (MLL2), KMT2C (MLL3), KMT2B (MLL4) and SETD1A (KMT2F) have been shown to display H3K4 mono-, di- and tri-methyltransferase activity (Milne et al. 2002, Hughes et al. 2004, Cho et al. 2007, Wysocka et al. 2003). KMT2G (SETD1B) is believed to have similar activity on the basis of sequence homology (Ruthenberg et al. 2007). MLLs are a component of large multiprotein complexes that also include WDR5, RBBP5, ASH2 and DPY30, assembled to form the core MLL complex (Nakamura et al. 2002, Hughes et al. 2004, Dou et al. 2006, Tremblay et al. 2014). The WD40 domain of WDR5 recognizes and binds the histone H3 N-terminus, presenting the lysine-4 side chain for methylation by one of the catalytically active MLL family (Couture et al. 2006, Ruthenburg et al. 2006). Histone H3 recognition by WDR5 is regulated by the methylation state of adjacent arginine (H3R2) residue. H3R2 methylation abolishes WDR5 interaction with the H3 histone tail (Couture et al. 2006); H3K4 di-/trimethylation and H3R2 methylation have an inverse relationship (Guccione et al. 2006).

SETD7 (KMT7, SET9, SET7/9) is an H3K4 mono-methytransferase (Wang et al. 2001, Xiao et al. 2003, Hu & Zhang 2006) that can also methylate a wide range of non-histone proteins (Dhayalan et al. 2011). SETD3 can mono- and di-methylate H3K4 and H3K36 (Eom et al. 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8WTS6-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q86TU7-1", "Q9BZ95-1" ], "evidence": [ { "id": "R-HSA-5159245", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5159245" } ] }, { "id": "R-HSA-5244692", "name": "Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)", "equation": "", "summary": "Trimethylation of lysine-5 of histone H3 (H3K4) has been linked to transcriptional activation in a variety of eukaryotic species (Ruthenberg et al. 2007). Several H3K4 methyltransferases have been identified in mammals, predominantly members of the Mixed Lineage Leukemia (MLL) protein family. Five of these, KMT2A (MML1), KMT2D (MLL2), KMT2C (MLL3), KMT2B (MLL4) and SETD1A (KMT2F) have been shown to display H3K4 mono-, di- and tri-methyltransferase activity (Milne et al. 2002, Hughes et al. 2004, Cho et al. 2007, Wysocka et al. 2003). KMT2G (SETD1B) is believed to have similar activity on the basis of sequence homology (Ruthenberg et al. 2007). MLLs are a component of large multiprotein complexes that also include WDR5, RBBP5, ASH2 and DPY30, assembled to form the core MLL complex (Nakamura et al. 2002, Hughes et al. 2004, Dou et al. 2006, Tremblay et al. 2014). The WD40 domain of WDR5 recognizes and binds the histone H3 N-terminus, presenting the lysine-4 side chain for methylation by one of the catalytically active MLL family (Couture et al. 2006, Ruthenburg et al. 2006). Histone H3 recognition by WDR5 is regulated by the methylation state of the adjacent arginine (H3R2) residue. H3R2 methylation abolishes WDR5 interaction with the H3 histone tail (Couture et al. 2006); H3K4 di-/trimethylation and H3R2 methylation have an inverse relationship (Guccione et al. 2006).

SMYD3 (KMT3E) and PRDM9 (KMT8B) are able to tri-methylate H3K4 (Hamamoto et al. 2004, Hayashi et al. 2005, Koh-Stenta et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9NQV7-1", "Q9UPS6-1", "Q9H7B4-1" ], "evidence": [ { "id": "R-HSA-5244692", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5244692" } ] }, { "id": "R-HSA-5617431", "name": "Retinoic acid activates HOXA1 chromatin", "equation": "", "summary": "As inferred from mouse embryos and cell lines, retinoic acid binds the RARA or RARG receptor in a RAR:RXR dimer bound to the 3' region of HOXA1. Ligand binding by retinoic acid receptors causes dismissal of corepressors such as NCOR1 (Klein et al. 2000), recruitment of coactivators such as NCOA3, and alteration of chromatin at the HOXA1 gene to an active conformation. Similar activation of HOXA1 is also observed in vitro in human breast cancer cells (Chariot et al. 1995). In mouse and Xenopus Hoxa1 acts in a feedback loop to maintain retinoic acid synthesis by directly binding and activating the promoter of the Raldh2 gene.
In addition to recruiting transcription coactivators, retinoic acid also appears to affect histone modifications and DNA methylation. In human embryonal carcinoma cells, KDM6A (UTX) binds the HOXA1 gene upon retinoic acid treatment and demethylates trimethylated lysine-27 of histone H3 (H3K27me3) (Lee et al. 2007). Reduced H3K27me3 is also observed at HOXA1 in lung fibroblasts (Lan et al. 2007). Experiments with mouse embryos lacking Kdm6a and Kdm6b indicate other factors also participate in demethylation of H3K27me3 (Shpargel et al. 2014). Polycomb repressive complex 2 (PRC2), which binds H3K27me3, is also lost during activation by retinoic acid (inferred from mouse cells and also observed in human embryonal carcinoma cells, Lee et al. 2007, Sessa et al. 2007). KDM6A forms complexes with the histone methyltransferases KMT2C,D (MLL2,3) (Lee et al. 2007) which may participate in methylating histone H3 at lysine-4 (H3K4me3), an activating chromatin modification. At the 3' end of the HOXA cluster 5-methylcytosine in CG-rich regions is converted to 5-hydroxymethylcytosine by TET2 during retinoic acid induced differentiation of embryonal carcinoma cells (Bocker et al. 2012). During retinoic acid activation of HOXA genes in human monocytic leukemia cells the HOXA cluster is unfolded and its chromosomal domain is repositioned within the nucleus (Rousseau et al. 2014). Similar large-scale rearrangements may occur during embryogenesis.
In mouse embryos, expression of Hoxa1 occurs in the neural tube, adjacent mesenchyme, paraxial mesoderm, somites, and gut epithelium from rhombomere 4 to the caudal-most region of the embryo. (Rhombomeres are transiently formed segments in the neural tube that will eventually form the hindbrain.)", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-ALL-5334804" ], "output_participant_list": [ "R-HSA-5687935" ], "enzyme_list": [ "O15550-1", "O15379-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q15910-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617431", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617431" } ] }, { "id": "R-HSA-5617452", "name": "Retinoic acid activates HOXB1 chromatin", "equation": "", "summary": "As inferred from mouse embryos and cell lines, retinoic acid binds receptors (RARA or RARG) at retinoic acid response elements (RAREs) located 3' to the HOXB1 gene, causing recruitment of coactivators such as NCOA3 and alteration of chromatin at the HOXB1 gene to an active conformation. Similar activation of the HOXB cluster by retinoic acid is observed in human embryonal carcinoma cells (Simeone et al. 1990). In human carcinoma cells and primary fibroblasts, KDM6A (UTX) binds the HOXB1 gene upon retinoic acid treatment (Agger et al. 2007, Lee et al. 2007) and may demethylate trimethylated lysine-27 of histone H3 (H3K27me3). Reduced H3K27me3 is also observed at HOXB1 in lung fibroblasts (Lan et al. 2007). Other demethylases may be redundant with KDM6A. Polycomb repressive complex 2 (PRC2), which binds H3K27me3, is also lost during activation (Lee et al. 2007). KDM6A forms complexes with the histone methyltransferase KMT2C,D (MLL2,3) which may participate in methylating histone H3 at lysine-4 (H3K4me3), an activating chromatin modification (Lee et al. 2007). After activation by retinoic acid HOXB1 maintains its own expression by binding elements in its own promoter and activating expression (Di Rocco et al. 1997).
In mouse embryos, Hoxb1 is expressed in mesoderm and neurectoderm of primitive streak stage embryos and then becomes restricted to rhombomeres of the hindbrain. Before rhombomere formation Hoxb1 is initially expressed in the region that becomes r3-7. After rhombomere formation Hoxb1 becomes restricted to r4 and is also observed in caudal mesoderm. Hoxb1 activates expression of Egr2 (Krox20), a transcription factor that subsequently activates Hoxa2, Hoxb2, and Hoxb3 and represses Hoxb1.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q15910-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617452", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617452" } ] }, { "id": "R-HSA-5617454", "name": "HOXB1 gene is transcribed", "equation": "", "summary": "After activation by retinoic acid, the HOXB1 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in human embryonal carcinoma cells in Simeone et al. 1990, Ogura and Evans 1995).
In mouse embryos, Hoxb1 is expressed in mesoderm and neurectoderm of primitive streak stage embryos and then becomes restricted to rhombomeres of the hindbrain. Before rhombomere formation Hoxb1 is initially expressed in the region that becomes r3-7. After rhombomere formation Hoxb1 becomes restricted to r4 and is also observed in caudal mesoderm.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617450" ], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O75928-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617454", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617454" } ] }, { "id": "R-HSA-5617471", "name": "HOXA1 gene is transcribed", "equation": "", "summary": "After activation by retinoic acid, the HOXA1 gene is transcribed to yield mRNA (inferred from mouse embryos, also demonstrated in human cancer cells, Chariot et al. 1995, Xu et al. 2014). The mRNA is a target of the microRNAs miR-10a in megakaryocytes (Garzon et al. 2006), miR210 in tumors (Huang et al. 2009), let-7c in non-small cell lung cancer cells (Zhan et al. 2013), miR-99 in epithelial cells (Chen et al. 2013), and miR-100 in tumor cells (Chen et al. 2014), however it is unknown if these play a role in embryogenesis. Opposite strand intergenic transcripts are also observed in adult tissues and placenta (Sessa et al. 2007).
In mouse embryos, expression of Hoxa1 occurs in the neural tube, adjacent mesenchyme, paraxial mesoderm, somites, and gut epithelium from rhombomere 4 to the caudal-most region of the embryo. (Rhombomeres are transiently formed segments in the neural tube that will eventually form the hindbrain.)", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617426" ], "output_participant_list": [ "R-HSA-5617439" ], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q9ULM6-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617471", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617471" } ] }, { "id": "R-HSA-5617483", "name": "HOXA2 gene is transcribed", "equation": "", "summary": "The HOXA2 is transcribed to yield mRNA (in carcinoma cells, Yates et al. 2010). In mouse embryos Hoxa2 mRNA is observed in rhombomere 2 and caudally through posterior hindbrain, spinal cord, larynx, lungs, vertebrae, sternum, and intestine. Hoxa2 mRNA is a target of microRNA miR-3960 in differentiating mouse osteoblasts.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617497" ], "output_participant_list": [ "R-HSA-5617481" ], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617483", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617483" } ] }, { "id": "R-HSA-5617484", "name": "EGR2 (KROX20) activates HOXA2 expression", "equation": "", "summary": "As inferred from mouse embryos, HOXA2 expression is directly driven by EGR2 (KROX20) in rhombomeres 3 and 5 (r3, r5) of the hindbrain and by HOXB1 in r4. EGR2 binds sites in the 5' region of the HOXA2 gene. HOXB1 sets up the correct EGR2 expression domain in r3 and thereby indirectly regulates HOXA2 in this region. (HOXA2 is the only HOX gene active in r2. An unknown activator, possibly a transcription factor of the SOX family, may be involved in expression in r2.)", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617484", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617484" } ] }, { "id": "R-HSA-5617486", "name": "HOXB2 gene is transcribed", "equation": "", "summary": "The HOXB2 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in carcinoma cells in Simeone et al. 1990). In mouse embryos Hoxb2 mRNA is observed in rhombomere 3 and caudally in the neural tube and mesoderm derivatives such as lung.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617499" ], "output_participant_list": [ "R-HSA-5617488" ], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617486", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617486" } ] }, { "id": "R-HSA-5617492", "name": "EGR2 (KROX20) activates HOXB2 expression", "equation": "", "summary": "As inferrred from mouse embryos, EGR2 (KROX20) binds three sites in the 5' region of the HOXB2 gene and activates expression in rhombomere 3 (r3) and r5. HOXB1 activates HOXB2 in r4 and expression is also observed in r6 and r7.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617492", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617492" } ] }, { "id": "R-HSA-5617641", "name": "MAFB (KREISLER) and HOXB1:PBX1:PKNOX1 (HOXB1:PBX1:PREP1) activate HOXA3 expression", "equation": "", "summary": "As inferred from mouse embryos, the transcription factor MAFB (KREISLER, KMRL) initially activates the HOXA3 gene in rhombomere 5 (r5) and r6. Weaker expression is also observed in r7. HOXA3 autoregulates by binding and activating its own promoter.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617641", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617641" } ] }, { "id": "R-HSA-5617661", "name": "MAFB:JUN and EGR2 activate HOXB3 expression", "equation": "", "summary": "As inferred from mouse embryos, the MAFB:JUN (KREISLER:JUN) heterodimer binds the rhombomere 5 (r5) enhancer located 5' to the P1 promoter of the HOXB3 gene and activates expression in r5. EGR2 (KROX20) also binds the r5 enhancer is required to activate the HOXB3 gene in r5. After initial activation HOXB3 is hypothesized to maintain its own expression. HOXB3 is expressed most strongly in r5 and more weakly in caudal rhombomeres r6 and r7.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617661", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617661" } ] }, { "id": "R-HSA-5617672", "name": "HOXB3 gene is transcribed", "equation": "", "summary": "The HOXB3 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in carcinoma cells in Simeone et al. 1990). The HOXB3 mRNA is a target of the microRNAs miR-7 and miR-218 in breast cancer cells (Li et al. 2012) and miR-10A (Weiss et al. 2009). In mouse embryos Hoxb3 mRNA is observed strongly in rhombomere 5 and more weakly in rhombomeres 6 and 7 of the hindbrain. Hoxb3 mRNA is also observed in mesodermal derivatives including lung, stomach, pancreas, and metanephros, and in neural crest derivatives.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617658" ], "output_participant_list": [ "R-HSA-5617656" ], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1", "P11161-1" ], "evidence": [ { "id": "R-HSA-5617672", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617672" } ] }, { "id": "R-HSA-5617676", "name": "HOXA3 gene is transcribed", "equation": "", "summary": "The HOXA3 gene is transcribed to yield mRNA (Han et al. 2007). In mouse embryos Hoxa3 mRNA is observed in rhombomere 5 and caudally through the central nervous system, ectoderm, and somitic mesoderm. HOXA3 mRNA is a target of the microRNA miR-10a (Han et al. 2007).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617647" ], "output_participant_list": [ "R-HSA-5617670" ], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617676", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617676" } ] }, { "id": "R-HSA-5617859", "name": "Retinoic acid activates HOXB4 chromatin", "equation": "", "summary": "As inferred from mouse embryos, retinoic acid activates the HOXB4 gene in rhombomere 7 (r7) by binding retinoic acid receptor RARB (Folberg et al. 1999) and perhaps RARA in RAR:RXR dimers bound to retinoic acid response elements (RAREs) located in the 3' flanking region of the HOXB4 gene, causing dissociation of corepressors and recruitment of coactivators. HOXB4 maintains its own expression by binding and activating its own promoter.
In human fibroblasts activation of chromatin at the HOXB4 gene accompanied by loss of methylation of lysine-27 at histone H3 (H3K27me3, Lan et al. 2007). Based on observations from mouse embryonic stem cells, Polycomb repressive complex 2 (PRC2), which binds H3K27me3, is anticipated to be lost while methylation of H3K4 is gained, possibly through the action of the histone demethylase KDM6A (UTX) which, in human fibroblasts, binds HOXB4 (Lan et al. 2007). Other factors may be involved in demethylating H3K27me3. KDM6A can form complexes containing the histone methyltransferases KMT2C,D (MLL2,3) which may participate in methylating H3K4 (Lee et al. 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q15910-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617859", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617859" } ] }, { "id": "R-HSA-5617866", "name": "HOXC4 gene is transcribed", "equation": "", "summary": "The HOXC4 gene is transcribed to yield mRNA. In mouse embryos Hoxc4 mRNA is observed caudal to rhombomere 7 in spinal column, prevertebrae, esophagus, metanephric kidney, lung, and trachea.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617863" ], "output_participant_list": [ "R-HSA-5617868" ], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617866", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617866" } ] }, { "id": "R-HSA-5617867", "name": "HOXB4 gene is transcribed", "equation": "", "summary": "The HOXB4 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in carcinoma cells in Simeone et al. 1990). The microRNA miR-23a binds the 3' untranslated region of HOXB4 mRNA (Koller et al 2013). In mouse embryos Hoxb4 mRNA is observed in rhombomere 7, paraxial mesoderm of somite 7, and caudally.", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617892" ], "output_participant_list": [ "R-HSA-5617893" ], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617867", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617867" } ] }, { "id": "R-HSA-5617874", "name": "HOXD4 gene is transcribed", "equation": "", "summary": "The HOXD4 gene is transcribed to yield mRNA (Moroni et al. 1993, Morrison et al. 1996, Morrison et al. 1997). In mouse embryos Hoxd4 mRNA is observed in rhombomere 7 and caudally in spinal cord and prevertebrae. The HOXD4 promoter region is a target of the microRNA miR-10a, which causes repression of transcription (Tan et al. 2009).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5617853" ], "output_participant_list": [ "R-HSA-5617878" ], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617874", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617874" } ] }, { "id": "R-HSA-5617887", "name": "HOXC4 chromatin is activated", "equation": "", "summary": "As inferred from mouse embryos, HOXC4 is expressed at E12.5 caudal to rhombomere 7 (r7) and at the level of prevertebrae 4-5 and caudally. In carcinoma cells treated with retinoic acid (Lee et al. 2007) and primary fibroblasts (Lan et al. 2007) chromatin at HOXC4 loses methylation at lysine-27 of histone H3 (H3K27me3), loses polycomb repressive complex 2 (PRC2), and gains methylation at lysine-4 of histone H3 (H3K4me3). In embryonal carcinoma cells KDM6A (UTX) binds HOXC4 and participates in demethylating H3K27 at HOXC4 (Lee et al. 2007)", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q15910-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617887", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617887" } ] }, { "id": "R-HSA-5617896", "name": "Retinoic acid activates HOXD4 chromatin", "equation": "", "summary": "As inferred from mouse embryos, retinoic acid activates the HOXD4 gene in rhombomere 7 (r7) by binding RARB or RARA in RAR:RXR receptor dimers bound to a retinoic acid response element (RAREs) in the 5' flanking region of the gene. Ligand binding by retinoic acid receptors causes dismissal of corepressors such as NCOR1 and recruitment of coactivators such as NCOA3 (Klein et al. 2000). The response of HOXD4 to retinoic acid is also observed in human embryonal carcinoma cells (Moroni et al. 1993, Morrison et al. 1996, Morrison et al. 1997). PAX6 binds near the RARE and is required for maximal activation.
In human fibroblasts chromatin at HOXA genes is activated by loss of methylation at lysine-27 (H3K27me3), loss of Polycomb repressive complex 2 (PRC2), and gain of H3K4me3 (Lan et al. 2007). Similar changes occur at Hoxd4 in mouse embryos. The histone demethylase KDM6A (UTX) binds the HOXD4 gene in human lung fibroblasts and may participate in demethylating H3K27me3 (Lan et al. 2007). Other factors may also be involved in demethylation. KDM6A associates with the histone methyltransferases KMT2C,D (MLL2,3) which may participate in methylating H3K4 (Lee et al. 2007). As inferred from mouse homologs, PCGF2 (MEL18) dissociates from Hoxd4 during activation. After activation by retinoic acid, HOXD4 maintains its own expression by binding and activating its own promoter.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-193545", "R-HSA-381325", "R-HSA-442488" ], "output_participant_list": [ "R-HSA-389115" ], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q15910-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5617896", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617896" } ] }, { "id": "R-HSA-5621002", "name": "HOXB1 activates HOXB2 expression", "equation": "", "summary": "As inferred from mouse embryos, HOXB1 in a trimeric complex with PBX1 and MEIS1 or PKNOX1 (PREP1) binds an enhancer located 5' to the HOXB2 gene and activates expression of HOXB2 in rhombomere 4 (r4). EGR2 (KROX20) activates HOXB2 in r3 and r5 and expression is also observed in r6 and r7.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5621002", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5621002" } ] }, { "id": "R-HSA-5621010", "name": "HOXB1 activates HOXA2 expression", "equation": "", "summary": "As inferred from mouse homologs, HOXA2 expression is driven by HOXB1 in rhombomere 4 (r4) and EGR2 (KROX20) in r3 and r5. HOXB1 together with PBX and PREP/MEIS cofactors bind an element in the intron of HOXA2. (HOXA2 is the only HOX gene active in r2. An unknown activator, possibly a transcription factor of the SOX family, may be involved in expression in r2.)", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5621010", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5621010" } ] }, { "id": "R-HSA-5637686", "name": "WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)", "equation": "", "summary": "Trimethylation of lysine-5 of histone H3 (H3K4) has been linked to transcriptional activation in a variety of eukaryotic species (Ruthenberg et al. 2007). Several H3K4 methyltransferases have been identified in mammals, predominantly members of the Mixed Lineage Leukemia (MLL) protein family. Five of these, KMT2A (MML1), KMT2D (MLL2), KMT2C (MLL3), KMT2B (MLL4) and SETD1A (KMT2F) have been shown to display H3K4 mono-, di- and tri-methyltransferase activity (Milne et al. 2002, Hughes et al. 2004, Cho et al. 2007, Wysocka et al. 2003). KMT2G (SETD1B) is believed to have similar activity on the basis of sequence homology (Ruthenberg et al. 2007). MLLs are a component of large multiprotein complexes that also include WDR5, RBBP5, ASH2 and DPY30, assembled to form the core MLL complex (Nakamura et al. 2002, Hughes et al. 2004, Dou et al. 2006, Tremblay et al. 2014). The WD40 domain of WDR5 recognizes and binds the histone H3 N-terminus, presenting the lysine-4 side chain for methylation by one of the catalytically active MLL family (Couture et al. 2006, Ruthenburg et al. 2006). Histone H3 recognition by WDR5 is regulated by the methylation state of the adjacent arginine (H3R2) residue. H3R2 methylation abolishes WDR5 interaction with the H3 histone tail (Couture et al. 2006); H3K4 di-/trimethylation and H3R2 methylation have an inverse relationship (Guccione et al. 2006). ; ; WHSC1L1 (KMT3F, WHISTLE), SMYD3 (KMT3E) and SETD3 are able to di-methylate H3K4 (Kim et al. 2006, Hamamoto et al. 2004, Eom et al. 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q9H7B4-1", "Q86TU7-1", "Q9BZ95-1" ], "evidence": [ { "id": "R-HSA-5637686", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5637686" } ] }, { "id": "R-HSA-5693644", "name": "HOXB1 maintains activation of HOXB1 chromatin", "equation": "", "summary": "As inferred from mouse embryos and embryonal carcinoma cells, HOXB1 binds with the PBX1:PKNOX1 (PBX1:PREP1) heterodimer (Berthelsen et al. 1998) and MEIS1at the promoter of the HOXB1 gene to maintain expression after initial activation of HOXB1 by retinoic acid signaling. Binding of SOX:OCT heterodimers to the mouse HOXB1 promoter also appear to positively regulate HOXB1 transcription.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "Q09472-1", "O14686-1", "P24928-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P30876-1" ], "evidence": [ { "id": "R-HSA-5693644", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693644" } ] }, { "id": "R-HSA-6810139", "name": "HOXA2 chromatin is activated", "equation": "", "summary": "In human cell lines and tissues activation of HOXA2 chromatin by retinoic acid occurs through loss of methylation at lysine-27 of histone H3 (H3K27), dissociation of polycomb repressive complexes, and gain of methylation at H3K4 (Lee et al. 2007 Supplementary, Sakamoto et al. 2007, Sessa et al. 2007). The change in chromatin may be produced by euchromatin spreading from distant 3' retinoic acid response elements. DNA methylation and MBD1 also appear to play a role in maintaining repression at HOXA2 in HeLa cells (Sakamoto et al. 2007). The histone demethylase KDM6A binds HOXA2 (Lee et al. 2007 Supplementary) and may participate in removing H3K27 methylation. KDM6A associates with histone methyltransferases KMT2C,D (MLL2,3) which may participate in methylating H3K4 in embryonal carcinoma cells (Lee et al. 2007, also observed at other HOXA genes in Lan et al. 2007). The conformation of the entire HOXA cluster in the nucleus changes during differentiation of a myeloid leukemia cell line and the conformation changes correlate with gene activity, H3K27me2,3 occurence, and proximity to CTCF binding sites (Rousseau et al. 2014, see also Lonfat and Duboule 2015).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "Q8NEZ4-1", "Q15910-1" ], "evidence": [ { "id": "R-HSA-6810139", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6810139" } ] }, { "id": "R-HSA-6810158", "name": "HOXB3 chromatin is activated", "equation": "", "summary": "During activation of HOXB3 by retimoic acid in fibroblasts (Lan et al. 2007) and embryonal carcinoma cells (Lee et al. 2007) chromatin at HOXB3 loses methylation at lysine-27 of histone H3 (H3K27me3), loses PRC2, and gains methylation at H3K4. The demethylase KDM6A (UTX) binds HOXB3 chromatin during activation (Lan et al. 2007, Lee et al. 2007) and may participate in demethylating H3K27me3. KDM6A forms complexes with the histone methyltransferases KMT2C,D (MLL2,3) which may participate in methylating H3K4 (Lee et al. 2007)", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "Q8NEZ4-1", "Q15910-1" ], "evidence": [ { "id": "R-HSA-6810158", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6810158" } ] }, { "id": "R-HSA-6810159", "name": "HOXB2 chromatin is activated", "equation": "", "summary": "During activation of HOXB1 by retinoic acid in human embryonal carcinoma cells, methylation at lysine-27 of histone H3 (H3K27me3) is lost and methylation at lysine-4 (H3K4me3) is gained (Lan et al. 2007, Lee et al. 2007). The histone demethylase KDM6A (UTX) binds HOXB2 chromatin and may demethylate H3K27me3 (Lee et al. 2007). Other factors may also participate in demethylation. Loss of H3K27me3 is associated with loss of polycomb repressive complex 2 (PRC2) (Lan et al. 2007, Lee et al. 2007). KDM6A forms complexes with the histone methyltransferases KMT2C,D (MLL2,3) which may participate in methylating H3K4 (Lee et al. 2007). The activation of HOXB1 chromatin may be produced by euchromatin spreading from distant 3' retinoic acid response elements.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "Q8NEZ4-1", "Q15910-1" ], "evidence": [ { "id": "R-HSA-6810159", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6810159" } ] }, { "id": "R-HSA-6810161", "name": "HOXA3 chromatin is activated", "equation": "", "summary": "In human fibroblasts (Lan et al. 2007) and human embryonic carcinoma cells (Lee et al. 2007, Sessa et al. 2007) treated with retinoic acid HOXA3 chromatin is activated by loss of methylation at lysine-27 of histone H3 (H3K27me3) and gain of H3K4me3. KDM6A (UTX) binds near HOXA3 (Lan et al. 2007, Lee et al. 2007) but does not appear to participate in the loss of H3K27me3. KDM6A forms complexes with the histone methyltransferases KMT2C,D (MLL2,3) which may participate in methylating H3K4 (Lee et al. 2007). Polycomb repressive complex 2 (PRC2), which binds H3K27me3, is also lost during activation of HOXA3 (Lan et al. 2007, Lee et al. 2007, Sessa et al. 2007). The change in chromatin at HOXA3 may result from euchromatin spreading from distant 3' retinoic acid response elements. The chromosomal conformation of the entire HOXA cluster changes during activation (Rousseau et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1", "Q8NEZ4-1", "Q15910-1" ], "evidence": [ { "id": "R-HSA-6810161", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6810161" } ] }, { "id": "R-HSA-8935731", "name": "ITGA2B gene transcription is stimulated by the complex of RUNX1, GATA1 and PRMT1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the ITGA2B (CD41) gene, encoding Integrin alpha IIb, and stimulates ITGFA2B transcription. Transcription of ITGA2B is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the ITGA2B promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with the ITGA2B gene promoter (Herglotz et al. 2013).
The transcription repressor complex at the ITGA2B promoter is formed when the SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at the ITGA2B gene promoter, thus contributing to transcriptional repression (Herglotz et al. 2013).
ITGA2B, involved in platelet aggregation, is only expressed in maturing megakaryocytes and platelets and is a model gene for megakaryocyte specific expression (Block and Poncz 1995, Jackson 2007).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [ "R-HSA-8935722" ], "output_participant_list": [ "R-HSA-57578" ], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8935731", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8935731" } ] }, { "id": "R-HSA-8935740", "name": "RUNX1 and GATA1 bind the promoter of the ITGA2B gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the ITGA2B (CD41) gene, encoding Integrin alpha-IIb, both in the absence and in the presence of PRMT1. PRMT1-mediated arginine-methylation significantly increases transcriptional activity of the RUNX1:CBFB complex at the ITGA2B promoter (Zhao et al. 2008). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the ITGA2B promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complexes are also recruited to the ITGA2B promoter (Herglotz et al. 2013). Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte specific promoters, including the ITGA2B gene, prior to the onset of differentiation (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8935740", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8935740" } ] }, { "id": "R-HSA-8936481", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the ITGA2B promoter via RUNX1 (and possibly GATA1), methylates histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosomes associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936481", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936481" } ] }, { "id": "R-HSA-8936616", "name": "RUNX1 and GATA1 bind the promoter of the GP1BA gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the GP1BA (CD42b) gene, encoding Platelet glycoprotein Ib alpha chain. Based on the analogy with the ITGA2B gene transcription (Zhao et al. 2008), the PRMT1-mediated arginine-methylation increases transcriptional activity of the RUNX1:CBFB complex at the GP1BA promoter (Herglotz et al. 2013). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the GP1BA promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complex are also recruited to the GP1BA promoter. Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte specific promoters, including the GP1BA gene, prior to the onset of differentiation (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936616", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936616" } ] }, { "id": "R-HSA-8936621", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the GP1BA promoter via RUNX1 (and possibly GATA1), methylates histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosome associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936621", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936621" } ] }, { "id": "R-HSA-8936628", "name": "GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the GP1BA (CD42b) gene, encoding Platelet glycoprotein Ib alpha chain, and stimulates GP1BA transcription. Based on analogy with the ITGA2B gene transcription, transcription of GP1BA is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the GP1BA gene promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with the GP1BA gene promoter (Herglotz et al. 2013).
The transcription repressor complex at the GP1BA promoter is formed when the SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at the GP1BA gene promoter, thus contributing to transcriptional repression (Herglotz et al. 2013).
Platelet glycoprotein Ib (GP-Ib) alpha chain, encoded by the GP1BA gene, is expressed at the cell surface membrane of platelets and participates in the formation of platelet plugs (Cauwenberghs et al. 2000, Jilma-Stohlawetz et al. 2003). Gp-Ib protein is first detected on the plasma membrane of maturing megakaryocytes (Debili et al. 1990).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [ "R-HSA-8936595" ], "output_participant_list": [ "R-HSA-55861" ], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936628", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936628" } ] }, { "id": "R-HSA-8936979", "name": "RUNX1 and GATA1 bind the promoter of the THBS1 gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the THBS1 (TSP-1) gene, encoding Thrombospondin-1. Based on the analogy with the ITGA2B gene transcription (Zhao et al. 2008), the PRMT1-mediated arginine-methylation increases transcriptional activity of the RUNX1:CBFB complex at the THBS1 promoter (Herglotz et al. 2013). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the THBS1 promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complex are also recruited to the THBS1 promoter. Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte promoters prior to the onset of differentiation (Herglotz et al. 2013) and is assumed to be present at the THBS1 promoter.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936979", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936979" } ] }, { "id": "R-HSA-8936995", "name": "THBS1 gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the THBS1 (TSP-1) gene, encoding Thrombospondin-1, and stimulates THBS1 transcription. Based on the analogy with the ITGA2B gene transcription, transcription of THBS1 is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the THBS1 gene promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with RUNX1-regulated megakaryocyte promoters (Herglotz et al. 2013). The presence of the H3K4me3 mark is characteristic of the activated THBS1 promoter (Michaud-Levesque and Richard 2009).
The transcription repressor complex at the THBS1 promoter is formed when SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at RUNX1-regulated megakaryocyte promoters (Herglotz et al. 2013), including THBS1 promoter (Michaud-Levesque and Richard 2009).
Thrombospondin-1, encoded by the THBS1 gene, forms homotrimers which can be detected in many different cell types and are very abundant in platelet alpha granules. While THBS1 is not necessary for platelet aggregation, it contributes to stabilization of the platelet aggregate (Bonnefoy and Hoylaerts 2008).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936995", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936995" } ] }, { "id": "R-HSA-8937016", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the THBS1 (TSP-1) promoter via RUNX1 (and possibly GATA1), is assumed to methylate histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosome associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013) and the appearance of the H3K4me3 mark at the THBS1 promoter coincides with THBS1 transactivation (Michaud-Levesque and Richard 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937016", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937016" } ] }, { "id": "R-HSA-8937037", "name": "RUNX1 and GATA1 bind the promoter of the MIR27A gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the MIR27A gene, encoding microRNA miR-27A (Ben-Ami et al. 2009). Based on analogy with the ITGA2B gene transcription (Zhao et al. 2008), the PRMT1-mediated arginine-methylation increases transcriptional activity of the RUNX1:CBFB complex at the MIR27A gene promoter (Herglotz et al. 2013). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the MIR27A promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complex are also recruited to the MIR27A promoter. Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte specific promoters, including the MIR27A gene, prior to the onset of differentiation (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937037", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937037" } ] }, { "id": "R-HSA-8937050", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the MIR27A promoter via RUNX1 (and possibly GATA1), methylates histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosome associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937050", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937050" } ] }, { "id": "R-HSA-8937097", "name": "MIR27A gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the MIR27A gene, encoding microRNA miR-27a, and stimulates MIR27A transcription. Based on the analogy with the ITGA2B gene transcription, transcription of MIR27A is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the MIR27A gene promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with the MIR27A gene promoter (Herglotz et al. 2013).
The transcription repressor complex at the MIR27A promoter is formed when SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at the MIR27A gene promoter, thus contributing to transcriptional repression (Herglotz et al. 2013).
MicroRNA miR-27a binds the 3'UTR of RUNX1 mRNA and inhibits RUNX1 mRNA translation without affecting RUNX1 mRNA stability. RUNX1 and MIR27A thus constitute a negative feedback loop that regulates megakaryocytic differentiation and may be involved in erythroid/megakaryocytic lineage determination (Ben-Ami et al. 2009).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q9H9G7-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q9HCE1-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937097", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937097" } ] }, { "id": "R-HSA-9676268", "name": "Formation of the MLL4 complex", "equation": "", "summary": "KMT2D (also known as MLL4) binds the WRAD complex, consisting of WDR5, RBBP5, ASH2L and DPY30, to form the MLL4 complex. WDR5 plays an important role in the optimal stimulation of MLL4 methyltransferase activity by the RBBP5:ASH2L heterodimer (Zhang et al. 2012).

KMT2C and KMT2D are paralogous histone methyltransferases and mainly responsible for H3K4 mono-methylation (H3K4me1) at enhancers (Lee et al. 2013). KMT2D has a partial functional redundancy with KMT2C in cells, although the phenotypes of KMT2D and KMT2C null mice suggest that MLL4 might be the dominant counterpart (Lee et al. 2013). KMT2C/D are thought to play a role in the recruitment of the acetyltransferase CBP/p300 complex, which facilitates H3K27 acetylation and RNA polymerase II's recruitment to enhancer regions (Jin et al. 2011, Wang et al. 2016, Lai et al. 2017).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14686-1" ], "evidence": [ { "id": "R-HSA-9676268", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9676268" } ] }, { "id": "R-HSA-9821410", "name": "PAXIP1:PAGR1 complex, NCOA6 and KDM6A bind MLL4 complex", "equation": "", "summary": "The MLL4 complex (KMT2D:WRAD, where the WRAD subcomplex consists of ASH2L, DPY30, RBBP5, and WDR5) associates with several accessory proteins that act as transcriptional cofactors: the complex of PAXIP1 (also known as PTIP) and PAGR1 (also known as PA1), NCOA6 (also known as ASC-2), and KDM6A (also known as UTX) proteins. The existence of the complex of MLL4, PAXIP1, PAGR1, NCOA6 and KDM6A, named MLL4-ASCOM, was established by co-immunoprecipitation of endogenous proteins from mouse and human cells and by functional studies (Cho et al. 2007; Patel et al. 2007; van Nuland et al. 2013; reviewed in Liu and Li 2022). The complex of PAXIP1 and PAGR1 enables the recruitment of the MLL4 complex to PAX2 target genes (Patel et al. 2007). While the complex of PAXIP1 and PAGR1 seems to be an obligatory constituent of the MLL4 complex, not every complex of PAXIP1, PAGR1 and MLL4 contains NCOA6 and KDM6A (van Nuland et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15550-1", "O14686-1" ], "evidence": [ { "id": "R-HSA-9821410", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9821410" } ] }, { "id": "R-HSA-9843116", "name": "PPARG2 transcription is stimulated by PPARG2:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Based on mouse studies, expression of the PPARG2 isoform of the PPARG gene, encoding Peroxisome proliferator-activated receptor gamma, a nuclear receptor transcription factor that is one of the master regulators of adipogenesis, is positively regulated in fat tissue by the PPARG:RXRA heterodimer, creating a positive feedback loop, and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Deletion of Paxip1 (also known as Ptip) gene, encoding one of the mandatory accessory subunits of Mll3/Mll4 complexes, in mouse embryonic fibroblasts (MEFs) leads to over 10-fold decrease of expression of Pparg gene. Pparg1 is the only Pparg isoform expressed in MEFs. Pparg expression can be rescued by ectopic expression of Paxip1 (Cho et al. 2009). Deletion of Paxip1 in mouse brown preadipocytes almost completely prevents the induction of Pparg1, Pparg2, and Cebpa, but has little effect on the induction of their upstream transcription regulator Cebpb (Cho et al. 2009). In differentiating mouse brown preadipocytes, Paxip1 promotes recruitment of RNA Pol II to promoters of Pparg1 and Pparg2 isoforms (Cho et al. 2009). The expression of Pparg2 but not Pparg1 is induced by high fat diet in mouse liver in an Mll4-dependent manner (Kim et al. 2016). The overlapping Pparg, Kmt2d, and H3K4me1 ChIP-seq peaks are found around the Pparg2 promoter region, with each peak containing a conserved PPRE (peroxisome proliferator response element) (Kim et al. 2016). In a mouse hepatocyte cell line, transactivation of expression of Scd1, Cd36, and Cidec genes by Pparg2 but not Pparg1, in response to synthetic PPARG agonist rosiglitazone, is dependent on Kmt2d (Kim et al. 2016).

In mouse brown preadipocytes expressing histone 3 mutant H3.3 K4M the expression of Pparg is severely reduced (Jang et al. 2019). Deletion of SET domains of Kmt2c and Kmt2d in mouse brown preadipocytes prevents induction of Pparg during adipogenesis (Jang et al. 2019).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9843116", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9843116" } ] }, { "id": "R-HSA-9843119", "name": "MLL4-ASCOM,(MLL3-ASCOM) complex is recruited to ligand- and coactivator-bound PPARG:RXRA heterodimer", "equation": "", "summary": "The MLL4-ASCOM complex (an MLL4 complex, composed of the core MLL4 complex, consisting of KMT2D and the WRAD subcomplex of WDR5, RBBP5, ASH2L, and DPY30, and accessory subunits PAXIP1, PAGR1, NCOA6, and KDM6A) and/or the MLL3-ASCOM complex (same composition as the MLL4-ASCOM except for the catalytic subunit KMT2C) are recruited to ligand- and coactivator-bound PPARG:RXRA heterodimer to PPARG target gene loci. While most of the functional studies were done in mouse, as described below, the physical interaction between KMT2D and PPARG was confirmed by co-immunoprecipitation of the endogenous complex from human prostate cancer cell lines (Zhai et al. 2022).

In differentiating mouse brown adipocytes, KMT2D (MLL4) mainly binds to active enhancers that are prevalently bound by both CEBP and PPARG, or at least by one of the two adipogenic transcription factors - the experiment did not distinguish between CEBPA and CEBPB (Lee et al. 2013). In mouse differentiating adipocytes, the non-catalytic subunits of KMT2C (MLL3)- and MLL4-ASCOM complexes were shown to co-immunoprecipitate with the complex of PPARG and RXRA (Lee et al. 2008). The MLL4 complex physically interacts with PPARG in mouse differentiating brown adipocytes (Lee et al. 2013). A flavonoid, kaempferol, is a PPARG antagonist that prevents rosiglitazone-induced association of Mll4 with Pparg at Pparg target loci in mouse adipocytes (Park et al. 2022).

By ChIP, at day 2 of mouse brown adipocyte differentiation, more than half of MLL4 binding sites overlap with binding sites for CEBPB, CEBPA, and PPARG (Lee et al. 2013). Association of PPARG1 and PPARG2 with KMT2D requires a PPARG agonist such as rosiglitazone (Kim et al. 2016). KMT2D binds to PPARG2 more robustly than to PPARG1 (Kim et al. 2016). The interaction between PPARG2 and KMT2D is diminished in the presence of the ABL1 inhibitor imatinib (Kim et al. 2016). ABL1-dependent phosphorylation of PPARG2 enhances association of PPARG with KMT2D in mouse liver carcinoma cells. Imatinib, an inhibitor of ABL1 kinase, decreases association between PPARG2 and RBBP5, a component of the MLL4 complex and other KMT2 complexes (Kim et al. 2016). Imatinib significantly decreases the recruitment of KMT2D to PPREs (peroxisome proliferator response elements) in the PPARG, CD36, CIDEC and SCD gene loci (Kim et al. 2016).

The MLL4-ASCOM and MLL3-ASCOM complexes or their components were shown to bind to regulatory elements of the following adipogenesis genes regulated by PPARG in adipocytes and/or steatotic hepatocytes:

ACSS3 gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

AGPAT2 gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

CD36 gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

CEBPA gene (Cho et al. 2009: by ChIP assay in mouse embryonic fibroblasts - MEFs, endogenous PAXIP1 - PTIP, an accessory subunit of MLL3 and MLL4 complexes, associates with the CEBPA gene promoter with a signal peak around the transcription start site; in mouse white preadipocyte line 3T3-L1, PAXIP1 is enriched around the transcription start sites of CEBPA before and after the onset of differentiation; in differentiating mouse brown preadipocytes, KMT2D is enriched around the transcription start site of CEBPA in a PAXIP1-dependent manner; Lee et al. 2013: KMT2D binds the CEBPA gene locus in differentiating mouse brown adipocytes)

CIDEC gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

ELOVL5 gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

FABP4 gene (Qi et al. 2003: by ChIP, NCOA6 binds to the FABP4 gene locus in a PPARG-dependent manner in mouse embryonic fibroblasts - MEFs - stimulated to differentiate into adipocytes; Lee et al. 2008: by ChIP, KMT2C and KMT2D, as well as NCOA6, bind the FABP4 gene locus in mouse fibroblasts induced to differentiate into adipocytes; the recruitment of components of MLL3/4-ASCOM complexes - KMT2C, KMT2D, WDR5, RBBP5, ASH2L, DPY30, NCOA6, PAXIP1, and KDM6A - is dependent on direct interaction of MLL3-ASCOM and MLL4-ASCOM with the PPARG:RXRA heterodimer; Lee et al. 2013: MLL4 binds the FABP4 gene locus in differentiating mouse brown adipocytes)

GPAM gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

LPL gene (Lee et al. 2013: mouse Mll4 complex was shown to bind to Lpl gene locus in differentiating mouse brown adipocytes)

PLIN2 gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

PPARG gene (Cho et al. 2009: by ChIP in mouse embryonic fibroblasts (MEFs), PAXIP1 (PTIP) and PAGR1 (PA1), accessory subunits of the MLL3 and MLL4 complexes, as well as the obligatory subunit RBBP5 and the catalytic subunit KMT2D are found associated with the PPARG1 but not PPARG2 promoter; PPARG1 is the only isoform of PPARG expressed in MEFs; in mouse white preadipocyte line 3T3-L1, PAXIP1 is enriched around the transcription start sites of PPARG1 and PPARG2 before and after the onset of differentiation; in differentiating mouse brown preadipocytes, KMT2D is enriched around the transcription start sites of PPARG1 and PPARG2 in a PAXIP1-dependent manner; Lee et al. 2013: KMT2D binds the PPARG gene locus in differentiating mouse brown adipocytes)

SCD gene (also known as SCD1, Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

SCD5 gene (also known as SCD2 or SCD4, Scd4 in mouse; Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes)

THRSP gene (Kim et al. 2016: based on ChIP-seq for KMT2D and PPARG in mouse hepatocytes).

While PPARG-mediated recruitment of MLL3/MLL4 complexes to PPARG target genes ACSL1, ADIPOQ, ANGPTL4, DGAT2, LIPE, LPIN1, MGLL, PDK4, PEX11A, PLIN1, PLIN4, PNPLA2 has not been reported, the expression of these genes, as well as the genes for which more direct evidence was available (ACSS3, AGPAT2, CD36, CEBPA, CIDEC, ELOVL5, FABP4, GPAM, LPL, PLIN2, PPARG, SCD, SCD5, and THRSP), is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information). Therefore, these genes are also annotated as direct MLL3/MLL4 targets.

UCP1 gene (Lee et al. 2013: KMT2D binds the UCP1 gene locus in differentiating mouse brown adipocytes).

KMT2D was also shown to bind the UCP1 and KLF15 gene loci in differentiating mouse brown adipocytes, while it was largely absent from the CEBPB gene locus (Lee et al. 2013). KLF15 has not been reported as a PPARG target gene, while UCP1 gene was reported to be co-regulated by EBF2 and PPARG (Stine et al. 2016).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9843119", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9843119" } ] }, { "id": "R-HSA-9843121", "name": "MLL4-ASCOM, (MLL3-ASCOM) complex monomethylates nucleosomes at PPARG:RXRA-bound enhancers", "equation": "", "summary": "The KMT2D (MLL4)-ASCOM and KMT2C (MLL3)-ASCOM complexes methylate H3K4 at nucleosomes of PPARG target genes during adipogenesis, thus creating an active chromatin mark. A flavonoid, kaempferol, is a PPARG antagonist that prevents rosiglitazone-induced association of Mll4 with Pparg at Pparg target loci and H3K4 methylation of nucleosomes associated with Pparg targets in mouse adipocytes (Park et al. 2022). As MLL3 and MLL4 mostly function as H3K4 monomethyl transferases, histone modifications at all target gene loci are shown as monomethylation (H3K4me1). At some target loci other types of H3K4 methylation (di- and trimethylation) have been reported, as indicated below. KMT2C/KMT2D-dependent H3K4 methylation has been shown at the following PPARG target genes:

CD36 gene (Kim et al. 2016: MLL4-dependent increase in H3K4me1 levels coincident with PPARG and KMT2D recruitment to regulatory gene elements was detected in steatotic mouse hepatocytes)

CEBPA gene (Cho et al. 2009: H3K4me3 signal at the CEBPA proximal promoter is reduced upon deletion of PAXIP1 - PTIP - in mouse embryonic fibroblasts - MEFs; in mouse white preadipocyte line 3T3-L1; H3K4me3 is enriched around the transcription start sites of CEBPA before and after the onset of differentiation; in differentiating mouse brown preadipocytes, H3K4me3 is enriched around the transcription start site of CEBPA in a PAXIP1-dependent manner)

CIDEC gene (Kim et al. 2016: KMT2D-dependent increase in H3K4me1 levels coincident with PPARG and KMT2D recruitment to regulatory gene elements was detected in steatotic mouse hepatocytes)

FABP4 gene (Lee et al. 2008: the kinetics of H3K4 trimethylation at the mouse FABP4 gene locus corresponds to the kinetics of KMT2C/KMT2D recruitment, and is followed by H3 and H4 acetylation; PPARG ligand rosiglitazone induced H3K4 trimethylation in MEFs which was abolished in NCOA6 null cells and significantly attenuated in Kmt2c delta/delta MEFs that express catalytically inactive KMT2C)

PPARG (Cho et al. 2009: in MEFs, which only express PPARG1 but not PPARG2 isoform of PPARG, increased trimethylation of the PPARG1 proximal promoter at H3K4 - H3K4me3 mark of active chromatin - was dependent on the presence of PAXIP1 (PTIP), an accessory subunit of MLL3 and MLL4 complexes; in mouse white preadipocyte line 3T3-L1, H3K4me3 is enriched around the transcription start sites of PPARG1 and PPARG2 before and after the onset of differentiation; in differentiating mouse brown preadipocytes, H3K4me3 is enriched around the transcription start sites of PPARG1 and PPARG2 in a PAXIP1-dependent manner)

SCD gene (Kim et al. 2016: KMT2D-dependent increase in H3K4me1 levels coincident with PPARG and KMT2D recruitment to regulatory gene elements was detected in steatotic mouse hepatocytes)

Targeted knock-in of Kmt2d (Mll4) mutant with deleted SET domain in somatic precursor cells of brown adipose tissue and skeletal muscle leads to death immediately after birth due to breathing malfunction, with affected mice showing similar brown adipose tissue mass but altered morphology and reduced muscle mass compared to wild type mice (Jang et al. 2019). When targeted knock-in involves both Kmt2c (Mll3) and Kmt2d mutants with deleted SET domains, affected mice also die immediately after birth, but show a profound reduction in brown adipose tissue and muscle mass (Jang et al. 2019). Deletion of SET domains in Kmt2c and Kmt2d decreases global levels of H3K4me1 and H3K4me2 but not H3K4me3 in mouse brown preadipocytes (Jang et al. 2019). Deletion of Kmt2c and Kmt2d SET domains reduces protein levels of Kmt2c, Kmt2d, and the accessory protein of Mll3/Mll4 complexes Utx (Kdm6a), but not Rbbp5 - an obligatory subunit of all KMT2 (MLL) complexes (Jang et al. 2019).

While KMT2C/KMT2D-mediated H3K4 methylation of the nucleosomes at regulatory elements of PPARG target genes ACSL1, ACSS3, ADIPOQ, AGPAT2, ANGPTL4, DGAT2, ELOVL5, GPAM, LIPE, LPIN1, LPL, MGLL, PDK4, PEX11A, PLIN1, PLIN2, PLIN4, PNPLA2, SCD5, THRSP has not been reported, the expression of these genes, as well as the genes for which more direct evidence was available (CD36, CEBPA, CIDEC, FABP4, PPARG, and SCD), is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c and Kmt2d with deleted SET domains (Jang et al. 2019: RNA seq, supplementary information).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9843121", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9843121" } ] }, { "id": "R-HSA-9843900", "name": "FABP4 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the FABP4 gene, encoding Fatty acid-binding protein 4, also known as aP2, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Based on a mouse study, the heterodimer of PPARG and RXRA directly stimulates transcription of the FABP4 (aP2) gene by binding to an adipocyte-specific enhancer (Tontonoz et al. 1994). Expression of FABP4 is significantly down-regulated in white adipose tissue (WAT) of Kmt2c (Mll3) delta/delta mice that express H3K4 methyltransferase inactive Kmt2c mutant (Lee et al. 2008). Expression of Fabp4 is completely ablated in Ncoa6 (also known as Prip)-null cells (Qi et al. 2003). Mouse embryonic fibroblasts (MEFs) deficient for Paxip1 (Ptip), an accessory subunit of MLL3 and MLL4 complexes, do not show a defect in Pparg- and ligand-stimulated expression of endogenous Fabp4 (Cho et al. 2009).

Based on a study in MEFs in which Pparg was ectopically expressed, Pparg positively regulates Fabp4 transcription in a ligand-dependent manner (Ge et a. 2008).

Treatment of mouse white preadipocyte cell line 3T3-L1 with PPARG agonists results in increased Fabp4 mRNA levels (Allen et al. 2006, Bhalla et al. 2011).

By microarray-based gene expression analysis in primary human white adipocytes undergoing browning, the mRNA level of FABP4 is significantly increased upon treatment with the PPARG synthetic agonist rosiglitazone (Barquissau et al. 2016: supplementary information, Table S3). In human monocytes, mRNA level of FABP4 is significantly increased upon treatment with the natural PPARG ligand 15d-PGJ2 (Pelton et al. 1999).

In mouse brown preadipocytes expressing histone 3 mutant H3.3 K4M, the expression of Fabp4 is severely reduced (Jang et al. 2019). Deletion of SET domains of Kmt2c and Kmt2d in mouse brown preadipocytes prevents induction of Fabp4 during adipogenesis (Jang et al. 2019).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9843900", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9843900" } ] }, { "id": "R-HSA-9851530", "name": "CD36 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the CD36 gene, encoding Platelet glycoprotein 4, also known as Fatty acid translocase (FAT), responsible for binding of long-chain fatty acids at the cell surface and facilitating their transport into cells, is positively regulated by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferases. In differentiating primary human adipocytes, CD36 mRNA levels are significantly reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). In mouse 3T3-L1 cell line-derived adipocytes, Cd36 mRNA level is increased upon treatment with the PAPRG agonist rosiglitazone (Allen et al. 2006). Expression of the Cd36 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).

Based on a mouse model of hepatic steatosis, expression of the Cd36 gene is directly stimulated by Pparg2 and the Mll4 complex, but negatively regulated by imatinib, an Abl1 kinase inhibitor that disrupts the Abl1-mediated association between Pparg2 and the Mll4 complex (Kim et al. 2016).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9851530", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9851530" } ] }, { "id": "R-HSA-9851534", "name": "CIDEC gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the CIDEC gene, encoding Lipid transferase CIDEC (also known as Fat-specific protein FSP27 homolog) that is specifically expressed in white adipocytes where it mediates fusion of lipid droplets into a single lipid droplet, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. After the differentiation of mouse adipocytes, the expression pattern of Cidec is similar to that of Pparg2 (Kim et al. 2008). The level of Cidec mRNA in mouse adipocytes increases in the presence of PPARG agonists (Kim et al. 2008). By reporter assay, Pparg2 activates transcription from the mouse Cidec gene promoter (Kim et al. 2008). Expression of human CIDEC gene reporter construct is positively regulated by exogenously expressed mouse Pparg and Rxra (Sharma et al. 2018). In contrast, growth hormone (GH)-induced phosphorylation of Pparg and its translocation from the nucleus in mouse white preadipocyte line 3T3-L1 lead to reduced Cidec expression (Sharma et al. 2018). Expression of the Cidec gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information). RNA Pol II occupancy at the mouse Cidec gene promoter is increased in response to PPARG agonists (Nielsen et al. 2008).

Based on a mouse model of hepatic steatosis, expression of the Cidec gene is directly stimulated by Pparg2 and the Mll4 complex, but negatively regulated by imatinib, an Abl1 kinase inhibitor that disrupts the Abl1-mediated association between Pparg2 and the Mll4 complex (Kim et al. 2016).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-6784665" ], "output_participant_list": [ "R-HSA-8856627" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9851534", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9851534" } ] }, { "id": "R-HSA-9851539", "name": "SCD gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the SCD gene, encoding Stearoyl-coenzyme A desaturase (SCD, also known as SCD1), responsible for conversion of palmitoyl- and stearoyl-coenzyme A to palmitoleoyl- and oleoyl-coenzyme A, is positively regulated by PPARG:RXRA heterodimers and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Expression of SCD mRNA is increased in fat tissue of human subjects treated with PPARG agonist pioglitazone, and correlates with increased mRNA levels of other PPARG-responsive genes, such as LPIN1 (Yao-Borengasser et al. 2008). Expression of the Scd1 gene, a mouse SCD ortholog, is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).

Based on a mouse model of hepatic steatosis, expression of the Scd gene is directly stimulated by Pparg2 and the Mll4 complex but negatively regulated by imatinib, an Abl1 kinase inhibitor that disrupts Abl1-mediated association between Pparg2 and the Mll4 complex (Kim et al. 2016).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "O00767-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9851539", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9851539" } ] }, { "id": "R-HSA-9854128", "name": "ACSS3 gene expression is stimulated by PPARG2:RXRA:MLL4(MLL3)-ASCOM complex", "equation": "", "summary": "Based on a mouse model of hepatic steatosis, expression of the ACSS3 gene, encoding Acyl-CoA synthetase short-chain family member 3 that localizes to the mitochondrial matrix, is directly stimulated by PPARG2 and the MLL4 complex (Kim et al. 2016).", "cellular_location": "mitochondrial matrix, nucleoplasm", "input_participant_list": [ "R-HSA-9851810" ], "output_participant_list": [ "R-HSA-5696385" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q9H6R3-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9854128", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9854128" } ] }, { "id": "R-HSA-9854130", "name": "THRSP gene expression is stimulated by PPARG2:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Based on a mouse model of hepatic steatosis, expression of the THRSP gene, encoding Thyroid hormone inducible hepatic protein, is directly stimulated by PPARG2 and the KMT2D (MLL4) complex (Kim et al. 2016). Expression of the Thrsp gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA seq, supplementary information).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-9851801" ], "output_participant_list": [ "R-HSA-8867326" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9854130", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9854130" } ] }, { "id": "R-HSA-9854141", "name": "GPAM gene expression is stimulated by PPARG2:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Based on a mouse model of hepatic steatosis, expression of the GPAM gene, encoding Glycerol-3-phosphate acyltransferase that localizes to the mitochondrial outer membrane, is directly stimulated by PPARG2 and the KMT2D (MLL4) complex (Kim et al. 2016). Gpam gene expression is reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA seq, supplementary information).", "cellular_location": "mitochondrial outer membrane, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q9HCL2-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9854141", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9854141" } ] }, { "id": "R-HSA-9854142", "name": "ELOVL5 gene expression is stimulated by PPARG2:RXRA:MLL4(MLL3)-ASCOM complex", "equation": "", "summary": "Based on a mouse model of hepatic steatosis, expression of the ELOVL5 gene, encoding Elongation of very long chain fatty acids protein 5 that localizes to the endoplasmic reticulum membrane, is directly stimulated by PPARG2 and the KMT2D (MLL4) complex (Kim et al. 2016). Elovl5 gene expression is reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA seq, supplementary information).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-8962699" ], "output_participant_list": [ "R-HSA-548679" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q9NYP7-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9854142", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9854142" } ] }, { "id": "R-HSA-9856211", "name": "ADIPOQ gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Transcription of the ADIPOQ gene, encoding a fat-derived hormone with antidiabetic and anti-atherogenic properties, is positively regulated by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Administration of synthetic agonists of PPARG increases plasma ADIPOQ protein levels in both insulin resistant humans and mice (Maeda et al. 2001). In cultured mouse 3T3-L1 white preadipocytes, PPARG synthetic agonists enhance mRNA transcription and secretion of Adipoq protein (Maeda et al. 2001). In 3T3-L1 cells, PPARG synthetic agonists stimulate activation of the luciferase reporter containing the human ADIPOQ gene promoter (Maeda et al. 2001). In obese diabetic mice chronically treated with PPARG synthetic agonists (11-day treatment window), mean plasma Adipoq protein levels increase (Combs et al. 2002). A two-week treatment of normal human subjects with the PPARG synthetic agonist rosiglitazone leads to increased circulating ADIPOQ protein (Combs et al. 2002). ADIPOQ serum levels are 5-fold suppressed in patients with severe insulin resistance caused by dominant-negative mutations in the PPARG gene (Combs et al. 2002). The human PPARG:RXRA heterodimer was shown by EMSA to directly bind to peroxisome proliferator response element (PPRE) in the promoter of the human ADIPOQ gene to increase its transcription (Iwaki et al. 2003). The human ADIPOQ gene promoter contains a responsive element for the liver receptor homolog-1 (LRH1, officially known as NR5A2) in the vicinity of the PPRE and direct NR5A2 binding to the ADIPOQ gene promoter facilitates PPARG:RXRA-mediated induction of the ADIPOQ gene transcription (Iwaki et al. 2003). Expression of ADIPOQ is significantly down-regulated in WAT of Kmt2c delta/delta mice that express a H3K4 methyltransferase-inactive Kmt2c mutant (Lee et al. 2008). Treatment of mouse white preadipocyte cell line 3T3-L1 with PPARG agonists results in increased Adipoq mRNA levels (Bhalla et al. 2011). Expression of the ADIPOQ gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c and Kmt2d with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9856211", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9856211" } ] }, { "id": "R-HSA-9856486", "name": "CEBPA gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of CEBPA gene, encoding CCAAT/enhancer-binding protein alpha which functions as one of the master transcriptional regulators of adipocyte differentiation, is positively regulated in fat tissue by PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferases. In differentiating primary human adipocytes, CEBPA mRNA levels are reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). Based on a study in mouse embryonic fibroblasts (MEFs) in which Pparg was ectopically expressed, PPARG positively regulates CEBPA transcription in a ligand-dependent manner (Ge et a. 2008).

MEFs deficient for Paxip1 (Ptip), an accessory subunit of Mll3 and Mll4 complexes, show a severe defect in Pparg- and ligand-stimulated expression of endogenous Cebpa (Cho et al. 2009). In differentiating mouse brown preadipocytes, Paxip1 promotes recruitment of RNA Pol II to Cebpa gene promoter (Cho et al. 2009).

In mouse brown preadipocytes expressing histone 3 mutant H3.3 K4M, the expression of the Cebpa gene is severely reduced (Jang et al. 2019). Deletion of SET domains of Kmt2c (Mll3) and Kmt2d (Mll4) in mouse brown preadipocytes prevents induction of Cebpa during adipogenesis (Jang et al. 2019).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9856486", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9856486" } ] }, { "id": "R-HSA-9859005", "name": "PEX11A gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the PEX11A gene, encoding Peroxisomal membrane protein 11A, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Mouse Pex11a gene is clustered together with the Plin1 gene on chromosome 7. A peroxisome proliferator response element (PPRE) is found in between the Pex11a gene and the downstream Plin1 gene, at ~8 kb downstream of Pex11a transcription start site (TSS), and ~2 kb upstream of the Plin1 TSS. The Pparg:Rxra heterodimer specifically binds this PPRE to stimulate transcription of both Pex11a and Plin1 (Shimizu et al. 2004, Shimizu et al. 2006). The arrangement of the PEX11A and PLIN1 genes and their shared regulatory elements are conserved in rats and humans (Shimizu et al. 2006). Expression of the Pex11a gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "nucleoplasm, peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859005", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859005" } ] }, { "id": "R-HSA-9859007", "name": "PLIN1 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the PLIN1 gene, encoding Perilipin-1, involved in the formation and maintenance of lipid droplets, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In differentiating primary human adipocytes, PLIN1 mRNA levels are reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). Mouse Plin1 gene in clustered together with the Pex11a gene on chromosome 7. A peroxisome proliferator response element (PPRE) is found in between the Pex11a gene and the downstream Plin1 gene, at ~8 kb downstream of Pex11a transcription start site (TSS), and ~2 kb upstream of the Plin1 TSS. The Pparg:Rxra heterodimer specifically binds this PPRE to stimulate transcription of both Pex11a and Plin1 (Shimizu et al. 2004, Shimizu et al. 2006). The arrangement of the PEX11A and PLIN1 genes and their shared regulatory elements are conserved in rats and humans (Shimizu et al. 2006). Expression of the Plin1 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "lipid droplet, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859007", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859007" } ] }, { "id": "R-HSA-9859082", "name": "PNPLA2 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the PNPLA2 gene, encoding Patatin-like phospholipase domain-containing protein 2, also known as Adipose triglyceride lipase (ATGL), is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. By qRT-PCR in primary human white adipocytes undergoing browning, the mRNA level of PNPLA2 is significantly increased upon treatment with the PPARG agonist rosiglitazone (Barquissau et al. 2016: supplementary information, Figure S3). Expression of the Pnpla2 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-9859076" ], "output_participant_list": [ "R-HSA-9859603" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "Q96AD5-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859082", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859082" } ] }, { "id": "R-HSA-9859084", "name": "AGPAT2 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the AGPAT2 gene, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase beta that localizes to the endoplasmic reticulum membrane and is responsible for conversion of lysophosphatidic acid (LPA) into phosphatidic acid (PA) is positively regulated by PPARG:RXRA heterodimers and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferases. Expression of AGPAT2 mRNA is increased in fat tissue of human subjects treated with PPARG agonist pioglitazone, and correlates with increased mRNA levels of other PPARG responsive genes, such as SCD (Yao-Borengasser et al. 2008). Expression of the AGPAT2 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information). Based on a mouse model of hepatic steatosis, expression of the AGPAT2 gene is directly stimulated by PPARG2 and the MLL4 complex (Kim et al. 2016).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-9851811" ], "output_participant_list": [ "R-HSA-61805" ], "enzyme_list": [ "Q15788-1", "O15550-1", "O15120-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859084", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859084" } ] }, { "id": "R-HSA-9859119", "name": "PDK4 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the PDK4 gene, encoding mitochondrial Pyruvate dehydrogenase acetyl-transferring kinase isozyme 4, also known as PDHK4, which regulates the TCA cycle, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In primary human white adipocytes undergoing browning, the PDK4 expression is significantly increased upon treatment with the PPARG agonist rosiglitazone (Barquissau et al. 2016). In mouse 3T3-L1 cell line-derived adipocytes, Pdk4 (also known as Pdhk4) mRNA level is increased upon treatment with the PAPRG agonist rosiglitazone (Allen et al. 2006). Expression of the Pdk4 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "mitochondrial matrix, nucleoplasm", "input_participant_list": [ "R-HSA-9859113" ], "output_participant_list": [ "R-HSA-203941" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q16654-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859119", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859119" } ] }, { "id": "R-HSA-9859121", "name": "ANGPTL4 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the ANGPTL4 gene, encoding Angiopoietin-related protein 4, also known as PPARG angiopoietin related (PGAR), is positively regulated by the PPARG:RXRA heterodimer and MLL3/MLL4 histone methyltransferases. Based on studies in mouse preadipocyte cell line 3T3-L1, ANGTPL4 expression is rapidly induced upon treatment with PPARG agonists (Yoon et al. 2000, Allen et al. 2006, Bhalla et al. 2011) in the absence of protein synthesis (Yoon et al. 2000). ANGTPL4 mRNA is highly expressed in human white fat and placenta (Yoon et al. 2000). Angptl4 expression in mouse white fat upon treatment with the PPARG agonist rosiglitazone leads to enhanced angiogenesis, which is likely required for adipose tissue growth (Gealekman et al. 2008). By microarray-based gene expression analysis in primary human white adipocytes undergoing browning, the mRNA level of ANGPTL4 is significantly increased upon treatment with the PPARG agonist rosiglitazone (Barquissau et al. 2016: supplementary information, Table S3). Expression of the Angptl4 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information). RNA Pol II occupancy at the Angptl4 gene promoter is increased in response to PPARG agonists (Nielsen et al. 2008). Pparg-mediated upregulation of Angptl4 secretion from mouse white fat tissue was shown to specifically promote proliferation of glucagon-secreting alpha-cells of the endocrine pancreas (Ben-Zvi et al. 2015). In mice, it was shown that ANGPTL4 is involved in regulation of lipid metabolism by inhibiting lipoprotein lipase (LPL) responsible for the clearance of lipids from the bloodstream, therefore leading to increased blood levels of plasma triglycerides (TG) and fatty acids (Yoshida et al. 2002).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-9859116" ], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859121", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859121" } ] }, { "id": "R-HSA-9859182", "name": "LPL gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the LPL gene, encoding Lipoprotein lipase responsible for hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby lipid clearance from the bloodstream, lipid utilization and storage, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In differentiating primary human adipocytes, LPIN1 mRNA levels are significantly reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). By microarray-based gene expression analysis in primary human white adipocytes undergoing browning, the mRNA level of LPL is significantly increased upon treatment with the PPARG agonist rosiglitazone (Barquissau et al. 2016: supplementary information, Table S3). Expression of the Lpl gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "extracellular region, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1", "P06858-1" ], "evidence": [ { "id": "R-HSA-9859182", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859182" } ] }, { "id": "R-HSA-9859188", "name": "ACSL1 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the ACSL1 gene, encoding Long-chain-fatty-acid-CoA ligase 1, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In differentiating primary human adipocytes, ACSL1 (FACL1) mRNA level is significantly reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). Expression of the ACSL1 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "mitochondrial outer membrane, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15788-1", "O15550-1", "P33121-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859188", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859188" } ] }, { "id": "R-HSA-9859196", "name": "PLIN2 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the PLIN2 gene, encoding Perilipin-2, also known as Adipophilin or ADFP or Adipose differentiation-related protein (ADRP), which localizes to lipid droplets, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Treatment of mouse white preadipocyte cell line 3T3-L1 with PPARG agonists results in increased Plin2 mRNA levels (Bhalla et al. 2011). Ligand-activated PPARG:RXRA heterodimer (i.e. PPARG ligand, troglitazone or RXR ligand LG268) was shown to stimulate PLIN2 gene transcription in human trophoblasts (Bildirici et al. 2003). Expression of the PLIN2 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).

Based on a mouse model of hepatic steatosis, expression of the Plin2 gene is directly stimulated by Pparg2 and the MLL4 complex but negatively regulated by imatinib, an Abl1 kinase inhibitor that disrupts Abl1-mediated association between Pparg2 and the Mll4 complex (Kim et al. 2016).", "cellular_location": "lipid droplet, nucleoplasm", "input_participant_list": [ "R-HSA-5649938" ], "output_participant_list": [ "R-HSA-9613345" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859196", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859196" } ] }, { "id": "R-HSA-9859206", "name": "PLIN4 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the PLIN4 gene, encoding Perilipin-4, also known as adipocyte protein S3-12, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In human adipocyte cell line SGBS, the expression level of PLIN4 gene correlates with PPARG gene expression (Dalen et al. 2004). In mouse white preadipocyte line 3T3-L1, treatment with PPARG agonists induces Plin4 gene expression (Dalen et al. 2004). peroxisome proliferator response elements (PPREs) are conserved between human and mouse PLIN4 gene loci, and mouse Plin4 gene reporter construct is activated by exogenously expressed ligand-activated PPARG:RXRA heterodimer (Dalen et al. 2004). Expression of the Plin4 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "lipid droplet, nucleoplasm", "input_participant_list": [ "R-HSA-9859208" ], "output_participant_list": [ "R-HSA-9859207" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859206", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859206" } ] }, { "id": "R-HSA-9859223", "name": "LIPE gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the LIPE gene, encoding a hormone sensitive lipase primarily responsible for hydrolysis of stored triglycerides to free fatty acids (reviewed in Althaher 2022), is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In differentiating primary human adipocytes, LIPE mRNA levels are reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). Expression of the Lipe gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "lipid droplet, nucleoplasm", "input_participant_list": [ "R-HSA-9859224" ], "output_participant_list": [ "R-HSA-9859222" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1", "Q05469-1" ], "evidence": [ { "id": "R-HSA-9859223", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859223" } ] }, { "id": "R-HSA-9859273", "name": "MGLL gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the MGLL gene, encoding Monoglyceride lipase responsible for conversion of monoacylglycerides to free fatty acids and glycerol, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. Treatment of rats with PPARG agonist rosiglitazone increases mRNA levels of MGLL (also known as MGL) and other lipolysis enzymes in subcutaneous and visceral white adipose tissue (Festuccia et al. 2006). Expression of the Mgll gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "lipid droplet, nucleoplasm", "input_participant_list": [ "R-HSA-8962802" ], "output_participant_list": [ "R-HSA-163567" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q99685-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859273", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859273" } ] }, { "id": "R-HSA-9859291", "name": "DGAT2 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the DGAT2 gene, encoding Diacylglycerol O-acyltransferase 2, an essential acyltransferase required for synthesis and storage of intracellular triglycerides, is positively regulated in fat tissue by the PPARG:RXRA heterodimer and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In the adipose tissue of Fgf21 knockout mice, the activity of Pparg is decreased due to SUMOylation, which correlates with a lower expression of Dgat2 gene that can be restored by Fgf21 administration or expression of a SUMOylation-resistant Pparg mutant (Dutchak et al. 2012). Twist1-mediated direct repression of Pparg transcription in mouse white adipocytes correlates with reduced Dgat2 mRNA levels (Sun et al. 2023). Expression of the Dgat2 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-9859276" ], "output_participant_list": [ "R-HSA-549188" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q96PD7-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1" ], "evidence": [ { "id": "R-HSA-9859291", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859291" } ] }, { "id": "R-HSA-9859334", "name": "LPIN1 gene expression is stimulated by PPARG:RXRA:MLL4,(MLL3)-ASCOM complex", "equation": "", "summary": "Expression of the LPIN1 (LPN, also known as Lipin) gene, encoding magnesium-dependent phosphatidate phosphatase enzyme responsible for conversion of phosphatidic acid (PA) to diacylglycerol (DAG) during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis (reviewed in Welcome et al. 2025), is positively regulated by PPARG:RXRA heterodimers and KMT2C (MLL3)/KMT2D (MLL4) histone methyltransferase complexes. In differentiating primary human adipocytes, LPIN1 mRNA levels are reduced upon antisense-mediated knockdown of PPARG mRNA (Perera et al. 2006, Supplementary materials Table 2). Expression of LPIN1 splicing isoform beta (Lipin-beta) mRNA is increased in fat tissue of human subjects treated with PPARG agonist pioglitazone, and correlates with increased mRNA levels of other PPARG-responsive genes, such as SCD, but this correlation is not seen for LPIN1 splicing isoform alpha (Lipin-alpha) (Yao-Borengasser et al. 2008). This implies that alpha and beta splicing isoforms of LPIN1 may be differentially regulated by PPARG (Yao-Borengasser et al. 2008). Expression of the Lpin1 gene is severely reduced in differentiating mouse brown preadipocytes expressing histone H3.3 K4M mutant or Kmt2c (Mll3) and Kmt2d (Mll4) with deleted SET domains (Jang et al. 2019: RNA-seq, supplementary information).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-8962866" ], "output_participant_list": [ "R-HSA-549157" ], "enzyme_list": [ "Q15788-1", "O15550-1", "Q09472-1", "O14686-1", "Q92793-1", "Q8NEZ4-1", "Q9Y6Q9-1", "P49336-1", "Q14693-1" ], "evidence": [ { "id": "R-HSA-9859334", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9859334" } ] }, { "id": "R-HSA-9945017", "name": "KMT2D LOF Variants Do Not Bind WRAD Complex Components", "equation": "", "summary": "

SUMMARY FOR MISSENSE VARIANTS

Missense mutations in the ZF, PHD7, FYRN, FYRC, WIN and SET domains at the C-terminal of KMT2D impair its ability to bind to the WRAD complex.

Functionally tested KMT2D mutants that are unable to bind to the WRAD complex include:

Table of KMT2D missense variants in Kabuki syndrome functionally tested for loss of WRAD binding
Missense variant nameLiterature reference with functional evidenceACMG/AMP pathogenicity criterion (Richards et al. 2015)
KMT2D H5059PCocciadiferro et al. 2018PS3
KMT2D T5098PCocciadiferro et al. 2018PS3
KMT2D G5189RCocciadiferro et al. 2018PS3
KMT2D W5217RCocciadiferro et al. 2018PS3
KMT2D R5340QCocciadiferro et al. 2018PS3
KMT2D E5425KCocciadiferro et al. 2018PS3
KMT2D R5471MCocciadiferro et al. 2018PS3
KMT2D Y5510DCocciadiferro et al. 2018PS3

The following variants that have not been experimentally characterized are included as candidate members of this set of KMT2D mutants based on sequence similarity:

Table of KMT2D missense variants in Kabuki syndrome that are candidates for loss of WRAD binding
Missense variant nameFunctionally characterized missense variant affecting identical amino acid residueACMG/AMP pathogenicity criterion (Richards et al. 2015)
KMT2D H5059RKMT2D H5059PPM5
KMT2D H5059YKMT2D H5059PPM5
KMT2D R5340LKMT2D R5340QPM5
KMT2D R5471KKMT2D R5471MPM5
KMT2D R5471WKMT2D R5471MPM5
KMT2D R5471SKMT2D R5471MPM5
KMT2D Y5510CKMT2D Y5510DPM5

SUMMARY FOR TRUNCATING VARIANTS

The entire C-terminal region of KMT2D (residues 4507-5537), which includes the ZF, PHD7, FYRN, FYRC, WIN and SET domains, is involved in binding to the WRAD complex (Dhar et al. 2012). While the impact of truncating mutations on WRAD complex binding has not been tested, the following truncating mutations in KMT2D, located throughout the length of the protein, have been shown to result in mRNA degradation through nonsense-mediated mRNA decay and contribute to haploinsufficiency (Micale et al. 2014).

Table of KMT2D truncating variants in Kabuki syndrome functionally tested for nonsense-mediated decay
Truncating variant nameLiterature reference with functional evidenceACMG/AMP pathogenicity criterion (Richards et al. 2015)
KMT2D M999Yfs*69Micale et al. 2014PS3, PM4
KMT2D K1885Qfs*18Micale et al. 2014PS3, PM4
KMT2D R2635*Micale et al. 2014PS3, PM4
KMT2D R3321*Micale et al. 2014PS3, PM4
KMT2D R3707*Micale et al. 2014PS3, PM4
KMT2D Q5008*Micale et al. 2014PS3, PM4
KMT2D R5027*Micale et al. 2014PS3, PM4

Many truncating mutations identified in Kabuki syndrome cases are predicted to result in absent or disrupted protein products. Truncating mutations located closer to the 3\u2019 end of the protein may escape nonsense-mediated mRNA decay; however, the impact of the resulting protein products has not been functionally tested.

The following functionally uncharacterized nonsense variants of KMT2D and a truncating KMT2D indel, derived from ClinVar (Landrum et al. 2018), are truncated upstream of amino acid position 5027, and have been annotated as candidates:

Table of KMT2D nonsense and truncating indel variants in Kabuki syndrome that are candidates for nonsense-mediated decay
Nonsense/indel variant nameACMG/AMP pathogenicity criterion (Richards et al. 2015)
KMT2D Q56*PVS1, PM4
KMT2D C69*PVS1, PM4
KMT2D E86*PVS1, PM4
KMT2D W91*PVS1, PM4
KMT2D Q117*PVS1, PM4
KMT2D W141*PVS1, PM4
KMT2D S146*PVS1, PM4
KMT2D E156*PVS1, PM4
KMT2D K287*PVS1, PM4
KMT2D L289*PVS1, PM4
KMT2D W315*PVS1, PM4
KMT2D L434*PVS1, PM4
KMT2D E455*PVS1, PM4
KMT2D P498*PVS1, PM4
KMT2D S510*PVS1, PM4
KMT2D E605*PVS1, PM4
KMT2D E730*PVS1, PM4
KMT2D E830*PVS1, PM4
KMT2D E839*PVS1, PM4
KMT2D S849*PVS1, PM4
KMT2D S940*PVS1, PM4
KMT2D Q1041*PVS1, PM4
KMT2D E1072*PVS1, PM4
KMT2D E1074*PVS1, PM4
KMT2D E1171*PVS1, PM4
KMT2D S1180*PVS1, PM4
KMT2D Q1185*PVS1, PM4
KMT2D R1252*PVS1, PM4
KMT2D S1263*PVS1, PM4
KMT2D R1324*PVS1, PM4
KMT2D Q1402*PVS1, PM4
KMT2D C1403*PVS1, PM4
KMT2D Y1559*PVS1, PM4
KMT2D E1588*PVS1, PM4
KMT2D R1615*PVS1, PM4
KMT2D S1632*PVS1, PM4
KMT2D E1663*PVS1, PM4
KMT2D R1702*PVS1, PM4
KMT2D Q1703*PVS1, PM4
KMT2D Q1717*PVS1, PM4
KMT2D Q1755*PVS1, PM4
KMT2D R1757*PVS1, PM4
KMT2D K1760*PVS1, PM4
KMT2D G1823*PVS1, PM4
KMT2D Q1893*PVS1, PM4
KMT2D R1903*PVS1, PM4
KMT2D Q1922*PVS1, PM4
KMT2D Y1944*PVS1, PM4
KMT2D E1957*PVS1, PM4
KMT2D G1995*PVS1, PM4
KMT2D Q2004*PVS1, PM4
KMT2D N2025*PVS1, PM4
KMT2D W2038*PVS1, PM4
KMT2D C2042*PVS1, PM4
KMT2D Y2060*PVS1, PM4
KMT2D Y2060*PVS1, PM4
KMT2D K2096*PVS1, PM4
KMT2D R2099*PVS1, PM4
KMT2D Q2166*PVS1, PM4
KMT2D Q2208*PVS1, PM4
KMT2D S2251*PVS1, PM4
KMT2D L2321*PVS1, PM4
KMT2D Q2341*PVS1, PM4
KMT2D R2410*PVS1, PM4
KMT2D R2471*PVS1, PM4
KMT2D Q2473*PVS1, PM4
KMT2D E2476*PVS1, PM4
KMT2D S2590*PVS1, PM4
KMT2D R2645*PVS1, PM4
KMT2D Q2682*PVS1, PM4
KMT2D R2685*PVS1, PM4
KMT2D R2687*PVS1, PM4
KMT2D Q2693*PVS1, PM4
KMT2D R2734*PVS1, PM4
KMT2D K2755*PVS1, PM4
KMT2D R2771*PVS1, PM4
KMT2D Q2796*PVS1, PM4
KMT2D R2801*PVS1, PM4
KMT2D W2818*PVS1, PM4
KMT2D R2830*PVS1, PM4
KMT2D S2839*PVS1, PM4
KMT2D Q2876*PVS1, PM4
KMT2D R2915*PVS1, PM4
KMT2D S2927*PVS1, PM4
KMT2D K2985*PVS1, PM4
KMT2D E3008*PVS1, PM4
KMT2D E3046*PVS1, PM4
KMT2D E3244*PVS1, PM4
KMT2D Q3274*PVS1, PM4
KMT2D Q3277*PVS1, PM4
KMT2D Q3279*PVS1, PM4
KMT2D Q3312*PVS1, PM4
KMT2D Q3322*PVS1, PM4
KMT2D Q3340*PVS1, PM4
KMT2D Q3341*PVS1, PM4
KMT2D Q3364*PVS1, PM4
KMT2D Q3400*PVS1, PM4
KMT2D Q3453*PVS1, PM4
KMT2D Q3460*PVS1, PM4
KMT2D Q3499*PVS1, PM4
KMT2D W3513*PVS1, PM4
KMT2D Q3518*PVS1, PM4
KMT2D Q3524*PVS1, PM4
KMT2D Q3604*PVS1, PM4
KMT2D Q3605*PVS1, PM4
KMT2D Q3609*PVS1, PM4
KMT2D S3614*PVS1, PM4
KMT2D Q3667*PVS1, PM4
KMT2D Q3683*PVS1, PM4
KMT2D S3713*PVS1, PM4
KMT2D Q3717*PVS1, PM4
KMT2D Q3735*PVS1, PM4
KMT2D Q3755*PVS1, PM4
KMT2D Q3756*PVS1, PM4
KMT2D Q3759*PVS1, PM4
KMT2D Q3764*PVS1, PM4
KMT2D Q3774*PVS1, PM4
KMT2D Q3799*PVS1, PM4
KMT2D Q3821*PVS1, PM4
KMT2D Q3839*PVS1, PM4
KMT2D Q3842*PVS1, PM4
KMT2D Q3860*PVS1, PM4
KMT2D Q3878*PVS1, PM4
KMT2D Q3892*PVS1, PM4
KMT2D Q3898*PVS1, PM4
KMT2D Q3901*PVS1, PM4
KMT2D Q3904*PVS1, PM4
KMT2D Q3910*PVS1, PM4
KMT2D Q3911*PVS1, PM4
KMT2D Q3915*PVS1, PM4
KMT2D Q3916*PVS1, PM4
KMT2D Q3919*PVS1, PM4
KMT2D Q3924*PVS1, PM4
KMT2D Q3934*PVS1, PM4
KMT2D Q3936*PVS1, PM4
KMT2D Q3938*PVS1, PM4
KMT2D Q3943*PVS1, PM4
KMT2D Q3949*PVS1, PM4
KMT2D Q3950*PVS1, PM4
KMT2D Q3951*PVS1, PM4
KMT2D Q3956*PVS1, PM4
KMT2D Q3961*PVS1, PM4
KMT2D Q3964*PVS1, PM4
KMT2D Q3968*PVS1, PM4
KMT2D R3982*PVS1, PM4
KMT2D Q3988*PVS1, PM4
KMT2D Q3990*PVS1, PM4
KMT2D Q3991*PVS1, PM4
KMT2D Q3993*PVS1, PM4
KMT2D Q4007*PVS1, PM4
KMT2D S4010*PVS1, PM4
KMT2D Q4090*PVS1, PM4
KMT2D Q4101*PVS1, PM4
KMT2D Q4102*PVS1, PM4
KMT2D Q4157*PVS1, PM4
KMT2D R4198*PVS1, PM4
KMT2D Q4200*PVS1, PM4
KMT2D Q4221*PVS1, PM4
KMT2D Q4223*PVS1, PM4
KMT2D Q4230*PVS1, PM4
KMT2D Q4233*PVS1, PM4
KMT2D Q4239*PVS1, PM4
KMT2D Q4249*PVS1, PM4
KMT2D Q4270*PVS1, PM4
KMT2D R4282*PVS1, PM4
KMT2D Q4315*PVS1, PM4
KMT2D E4316*PVS1, PM4
KMT2D R4319*PVS1, PM4
KMT2D S4321*PVS1, PM4
KMT2D Q4322*PVS1, PM4
KMT2D Q4329*PVS1, PM4
KMT2D Q4401*PVS1, PM4
KMT2D Q4405*PVS1, PM4
KMT2D E4409*PVS1, PM4
KMT2D S4414*PVS1, PM4
KMT2D I4440*PVS1, PM4
KMT2D S4456*PVS1, PM4
KMT2D E4481*PVS1, PM4
KMT2D R4484*PVS1, PM4
KMT2D Q4503*PVS1, PM4
KMT2D K4527*PVS1, PM4
KMT2D R4536*PVS1, PM4
KMT2D Q4554*PVS1, PM4
KMT2D Y4606*PVS1, PM4
KMT2D S4669*PVS1, PM4
KMT2D Q4687*PVS1, PM4
KMT2D W4730*PVS1, PM4
KMT2D K4768*PVS1, PM4
KMT2D W4856*PVS1, PM4
KMT2D Q4859*PVS1, PM4
KMT2D N4861*PVS1, PM4
KMT2D E4887*PVS1, PM4
KMT2D Y4896*PVS1, PM4
KMT2D R4904*PVS1, PM4
KMT2D Q4905*PVS1, PM4
KMT2D E4935*PVS1, PM4
KMT2D E4943*PVS1, PM4
KMT2D S4948*PVS1, PM4
KMT2D S4958*PVS1, PM4
KMT2D R4960*PVS1, PM4
KMT2D W4982*PVS1, PM4
KMT2D W4987*PVS1, PM4
KMT2D Q4997*PVS1, PM4
KMT2D R5021*PVS1, PM4
KMT2D Q4103_Q4104delinsH*PVS1, PM4

The following functionally uncharacterized frameshift mutants of KMT2D, derived from ClinVar (Landrum et al. 2018) and truncated before amino acid position 5027, have been annotated as candidates:

Table of KMT2D frameshift variants in Kabuki syndrome that are candidates for nonsense-mediated decay.
Frameshift variant nameACMG/AMP pathogenicity criterion (Richards et al. 2015)
KMT2D A28Cfs*3PVS1, PM4
KMT2D D57Tfs*73PVS1, PM4
KMT2D C69Lfs*61PVS1, PM4
KMT2D P99Lfs*31PVS1, PM4
KMT2D S102Afs*28PVS1, PM4
KMT2D S102Afs*28PVS1, PM4
KMT2D S102Efs*6PVS1, PM4
KMT2D C158Wfs*60PVS1, PM4
KMT2D C175Wfs*41PVS1, PM4
KMT2D A180Dfs*40PVS1, PM4
KMT2D I182Hfs*38PVS1, PM4
KMT2D I182Lfs*25PVS1, PM4
KMT2D C197Afs*11PVS1, PM4
KMT2D T199Vfs*6PVS1, PM4
KMT2D G202Afs*7PVS1, PM4
KMT2D P235Qfs*26PVS1, PM4
KMT2D P235Afs*6PVS1, PM4
KMT2D E237Sfs*24PVS1, PM4
KMT2D L238Cfs*23PVS1, PM4
KMT2D Y251Lfs*22PVS1, PM4
KMT2D A254Pfs*7PVS1, PM4
KMT2D L256Rfs*5PVS1, PM4
KMT2D C279Wfs*7PVS1, PM4
KMT2D L345Vfs*56PVS1, PM4
KMT2D C346Sfs*17PVS1, PM4
KMT2D S370Tfs*43PVS1, PM4
KMT2D T382Lfs*20PVS1, PM4
KMT2D D383Tfs*19PVS1, PM4
KMT2D G398Vfs*4PVS1, PM4
KMT2D P411Tfs*7PVS1, PM4
KMT2D K417Nfs*3PVS1, PM4
KMT2D A422Qfs*13PVS1, PM4
KMT2D L434Pfs*12PVS1, PM4
KMT2D L434Qfs*496PVS1, PM4
KMT2D P444Rfs*485PVS1, PM4
KMT2D E446Sfs*484PVS1, PM4
KMT2D L449Vfs*5PVS1, PM4
KMT2D E455Nfs*475PVS1, PM4
KMT2D R466Tfs*7PVS1, PM4
KMT2D E490Nfs*439PVS1, PM4
KMT2D E524Kfs*406PVS1, PM4
KMT2D P544Hfs*383PVS1, PM4
KMT2D L545Rfs*385PVS1, PM4
KMT2D P548Hfs*382PVS1, PM4
KMT2D P583Lfs*347PVS1, PM4
KMT2D S588Tfs*16PVS1, PM4
KMT2D S609Pfs*321PVS1, PM4
KMT2D P647Hfs*283PVS1, PM4
KMT2D L656Rfs*274PVS1, PM4
KMT2D P670Sfs*7PVS1, PM4
KMT2D T698Hfs*6PVS1, PM4
KMT2D D704Sfs*26PVS1, PM4
KMT2D E722Sfs*208PVS1, PM4
KMT2D L725Vfs*5PVS1, PM4
KMT2D R755Pfs*3PVS1, PM4
KMT2D P763Rfs*167PVS1, PM4
KMT2D Q773Pfs*3PVS1, PM4
KMT2D Q809Pfs*3PVS1, PM4
KMT2D Q836Pfs*3PVS1, PM4
KMT2D R845Gfs*85PVS1, PM4
KMT2D L860Vfs*5PVS1, PM4
KMT2D L860Rfs*70PVS1, PM4
KMT2D P886Lfs*44PVS1, PM4
KMT2D G921Afs*40PVS1, PM4
KMT2D E958Rfs*11PVS1, PM4
KMT2D P986Tfs*4PVS1, PM4
KMT2D S1007Pfs*60PVS1, PM4
KMT2D S1037Pfs*30PVS1, PM4
KMT2D V1064Sfs*55PVS1, PM4
KMT2D V1078Sfs*5PVS1, PM4
KMT2D M1098Wfs*21PVS1, PM4
KMT2D S1107Afs*12PVS1, PM4
KMT2D A1109Gfs*2PVS1, PM4
KMT2D D1121Tfs*43PVS1, PM4
KMT2D P1181Hfs*31PVS1, PM4
KMT2D P1196Tfs*11PVS1, PM4
KMT2D P1197Tfs*10PVS1, PM4
KMT2D T1198Lfs*14PVS1, PM4
KMT2D S1217Kfs*33PVS1, PM4
KMT2D P1232Rfs*98PVS1, PM4
KMT2D G1235Vfs*95PVS1, PM4
KMT2D L1264Afs*4PVS1, PM4
KMT2D E1287Gfs*38PVS1, PM4
KMT2D K1301Nfs*29PVS1, PM4
KMT2D Q1302Tfs*23PVS1, PM4
KMT2D R1322Lfs*8PVS1, PM4
KMT2D L1366Sfs*9PVS1, PM4
KMT2D M1379Vfs*52PVS1, PM4
KMT2D V1381Gfs*50PVS1, PM4
KMT2D A1390Qfs*27PVS1, PM4
KMT2D A1390Gfs*42PVS1, PM4
KMT2D C1408Vfs*9PVS1, PM4
KMT2D P1460Hfs*46PVS1, PM4
KMT2D L1461Tfs*30PVS1, PM4
KMT2D K1466Qfs*25PVS1, PM4
KMT2D G1467Afs*39PVS1, PM4
KMT2D P1485Lfs*21PVS1, PM4
KMT2D C1489Vfs*17PVS1, PM4
KMT2D I1509Vfs*6PVS1, PM4
KMT2D V1564Wfs*12PVS1, PM4
KMT2D E1571Sfs*5PVS1, PM4
KMT2D P1580Qfs*13PVS1, PM4
KMT2D W1591Afs*11PVS1, PM4
KMT2D M1605Hfs*26PVS1, PM4
KMT2D P1607Tfs*24PVS1, PM4
KMT2D A1624Qfs*98PVS1, PM4
KMT2D E1661Sfs*61PVS1, PM4
KMT2D E1661Gfs*5PVS1, PM4
KMT2D K1665Nfs*57PVS1, PM4
KMT2D R1687Tfs*4PVS1, PM4
KMT2D R1709Hfs*25PVS1, PM4
KMT2D K1712Rfs*22PVS1, PM4
KMT2D S1722Rfs*9PVS1, PM4
KMT2D P1736Lfs*13PVS1, PM4
KMT2D K1760Afs*26PVS1, PM4
KMT2D G1811Rfs*15PVS1, PM4
KMT2D D1842Efs*10PVS1, PM4
KMT2D P1844Rfs*3PVS1, PM4
KMT2D P1844Rfs*3PVS1, PM4
KMT2D V1851Rfs*9PVS1, PM4
KMT2D P1866Qfs*10PVS1, PM4
KMT2D D1876Gfs*38PVS1, PM4
KMT2D P1951Rfs*96PVS1, PM4
KMT2D P2029Lfs*18PVS1, PM4
KMT2D R2050Ifs*5PVS1, PM4
KMT2D A2058Sfs*10PVS1, PM4
KMT2D A2058Pfs*36PVS1, PM4
KMT2D Y2060Tfs*34PVS1, PM4
KMT2D E2081Dfs*22PVS1, PM4
KMT2D E2081Gfs*16PVS1, PM4
KMT2D K2089Rfs*5PVS1, PM4
KMT2D A2101Tfs*55PVS1, PM4
KMT2D L2104Pfs*40PVS1, PM4
KMT2D Q2109Afs*46PVS1, PM4
KMT2D G2114Afs*30PVS1, PM4
KMT2D A2119Lfs*25PVS1, PM4
KMT2D A2119Rfs*36PVS1, PM4
KMT2D F2142Gfs*7PVS1, PM4
KMT2D Q2170Kfs*94PVS1, PM4
KMT2D T2191Hfs*11PVS1, PM4
KMT2D Y2199Ifs*65PVS1, PM4
KMT2D Y2199Ifs*65PVS1, PM4
KMT2D Y2199Lfs*3PVS1, PM4
KMT2D Y2199Ffs*65PVS1, PM4
KMT2D A2205Nfs*38PVS1, PM4
KMT2D A2205Gfs*38PVS1, PM4
KMT2D M2211Nfs*32PVS1, PM4
KMT2D G2224Ifs*17PVS1, PM4
KMT2D E2225Gfs*18PVS1, PM4
KMT2D Q2237Tfs*28PVS1, PM4
KMT2D G2262Wfs*37PVS1, PM4
KMT2D S2269Pfs*15PVS1, PM4
KMT2D R2282Gfs*4PVS1, PM4
KMT2D A2294Gfs*5PVS1, PM4
KMT2D L2319Pfs*7PVS1, PM4
KMT2D T2323Dfs*3PVS1, PM4
KMT2D L2331Pfs*46PVS1, PM4
KMT2D L2331Rfs*8PVS1, PM4
KMT2D L2331Pfs*46PVS1, PM4
KMT2D A2335Gfs*42PVS1, PM4
KMT2D E2339Gfs*36PVS1, PM4
KMT2D P2400Lfs*26PVS1, PM4
KMT2D C2395Tfs*29PVS1, PM4
KMT2D S2409Lfs*25PVS1, PM4
KMT2D R2428Gfs*57PVS1, PM4
KMT2D S2431Lfs*53PVS1, PM4
KMT2D R2460Vfs*25PVS1, PM4
KMT2D P2470Sfs*7PVS1, PM4
KMT2D E2476Kfs*9PVS1, PM4
KMT2D F2494Vfs*12PVS1, PM4
KMT2D A2496Sfs*10PVS1, PM4
KMT2D P2502Qfs*41PVS1, PM4
KMT2D T2524Rfs*19PVS1, PM4
KMT2D G2525Dfs*131PVS1, PM4
KMT2D Q2540Sfs*115PVS1, PM4
KMT2D K2548Nfs*35PVS1, PM4
KMT2D V2551Sfs*32PVS1, PM4
KMT2D P2575Lfs*8PVS1, PM4
KMT2D D2647Tfs*44PVS1, PM4
KMT2D P2662Qfs*29PVS1, PM4
KMT2D M2669Pfs*7PVS1, PM4
KMT2D G2668Vfs*4PVS1, PM4
KMT2D E2676Afs*47PVS1, PM4
KMT2D P2724Qfs*5PVS1, PM4
KMT2D P2738Dfs*32PVS1, PM4
KMT2D S2765Pfs*22PVS1, PM4
KMT2D R2771Dfs*16PVS1, PM4
KMT2D M2784Gfs*60PVS1, PM4
KMT2D Q2811Tfs*34PVS1, PM4
KMT2D Q2815Pfs*30PVS1, PM4
KMT2D Q2816Tfs*29PVS1, PM4
KMT2D A2826Tfs*29PVS1, PM4
KMT2D T2827Sfs*19PVS1, PM4
KMT2D T2827Ifs*14PVS1, PM4
KMT2D E2844Afs*4PVS1, PM4
KMT2D A2855Gfs*55PVS1, PM4
KMT2D Q2876Sfs*34PVS1, PM4
KMT2D T2949Nfs*24PVS1, PM4
KMT2D K2953Nfs*51PVS1, PM4
KMT2D S2969Vfs*4PVS1, PM4
KMT2D K2985Sfs*19PVS1, PM4
KMT2D E3004Rfs*3PVS1, PM4
KMT2D D3005Gfs*2PVS1, PM4
KMT2D V3073Efs*46PVS1, PM4
KMT2D S3075Ffs*3PVS1, PM4
KMT2D V3089Gfs*9PVS1, PM4
KMT2D A3103Lfs*16PVS1, PM4
KMT2D R3110Sfs*4PVS1, PM4
KMT2D K3140Rfs*2PVS1, PM4
KMT2D E3181Rfs*16PVS1, PM4
KMT2D S3199Afs*3PVS1, PM4
KMT2D S3202Efs*13PVS1, PM4
KMT2D K3235Dfs*15PVS1, PM4
KMT2D S3239Yfs*3PVS1, PM4
KMT2D P3246Tfs*5PVS1, PM4
KMT2D K3258Rfs*72PVS1, PM4
KMT2D Q3265Sfs*67PVS1, PM4
KMT2D Q3276Afs*25PVS1, PM4
KMT2D M3295Lfs*39PVS1, PM4
KMT2D G3316Vfs*14PVS1, PM4
KMT2D G3366Wfs*25PVS1, PM4
KMT2D Q3370Rfs*22PVS1, PM4
KMT2D I3420Nfs*3PVS1, PM4
KMT2D L3432Ffs*36PVS1, PM4
KMT2D G3465Dfs*37PVS1, PM4
KMT2D P3466Tfs*2PVS1, PM4
KMT2D Q3499Rfs*5PVS1, PM4
KMT2D L3542Vfs*13PVS1, PM4
KMT2D Q3546Hfs*112PVS1, PM4
KMT2D A3552Sfs*4PVS1, PM4
KMT2D A3552Cfs*4PVS1, PM4
KMT2D L3564Afs*27PVS1, PM4
KMT2D L3564Efs*28PVS1, PM4
KMT2D K3565Sfs*93PVS1, PM4
KMT2D Q3570Sfs*89PVS1, PM4
KMT2D A3593Qfs*65PVS1, PM4
KMT2D L3641Afs*34PVS1, PM4
KMT2D L3657Qfs*89PVS1, PM4
KMT2D F3699Lfs*14PVS1, PM4
KMT2D Q3726Nfs*23PVS1, PM4
KMT2D V3787Gfs*225PVS1, PM4
KMT2D Q3796Rfs*34PVS1, PM4
KMT2D A3808Lfs*22PVS1, PM4
KMT2D V3809Cfs*21PVS1, PM4
KMT2D G3819Afs*11PVS1, PM4
KMT2D G3819Lfs*7PVS1, PM4
KMT2D H3824Qfs*187PVS1, PM4
KMT2D Q3826Cfs*3PVS1, PM4
KMT2D Q3839Pfs*173PVS1, PM4
KMT2D G3844Vfs*37PVS1, PM4
KMT2D Q3867Afs*145PVS1, PM4
KMT2D Q3865Pfs*144PVS1, PM4
KMT2D L3880Dfs*131PVS1, PM4
KMT2D M3894Wfs*85PVS1, PM4
KMT2D Q3913Hfs*66PVS1, PM4
KMT2D Q3923Hfs*56PVS1, PM4
KMT2D Q3924Pfs*88PVS1, PM4
KMT2D Q3943Hfs*36PVS1, PM4
KMT2D A4014Sfs*23PVS1, PM4
KMT2D G4023Sfs*18PVS1, PM4
KMT2D E4056Sfs*10PVS1, PM4
KMT2D E4061Dfs*5PVS1, PM4
KMT2D P4098Qfs*22PVS1, PM4
KMT2D G4112Vfs*8PVS1, PM4
KMT2D S4124Hfs*14PVS1, PM4
KMT2D H4132Pfs*10PVS1, PM4
KMT2D H4132Pfs*36PVS1, PM4
KMT2D V4139Cfs*29PVS1, PM4
KMT2D V4139Ffs*28PVS1, PM4
KMT2D M4148Sfs*15PVS1, PM4
KMT2D Q4156Nfs*5PVS1, PM4
KMT2D Q4183Afs*151PVS1, PM4
KMT2D Q4202Rfs*15PVS1, PM4
KMT2D Q4235Gfs*98PVS1, PM4
KMT2D P4246Lfs*32PVS1, PM4
KMT2D E4245Dfs*84PVS1, PM4
KMT2D L4253Pfs*81PVS1, PM4
KMT2D T4271Afs*6PVS1, PM4
KMT2D R4288Lfs*94PVS1, PM4
KMT2D P4293Qfs*86PVS1, PM4
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acetate.", "evidence": [ { "id": "O15379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O15379" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "O15379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O15379" } ] } ] }, { "uniprot_ac": "O15550", "gene_name": "KDM6A", "activity": [ { "ec_number": "1.14.11.68", "activity": "N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 2 2-oxoglutarate + 2 O2 = N(6)-methyl-L-lysyl(27)-[histone H3] + 2 formaldehyde + 2 succinate + 2 CO2.", "evidence": [ { "id": "O15550", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O15550" } ] }, { "ec_number": "1.14.11.68", "activity": "", "evidence": [ { "id": "O15550", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O15550" } ] } ] }, { "uniprot_ac": "O75928", "gene_name": "PIAS2", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "O75928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O75928" } ] } ] }, { "uniprot_ac": "P06858", "gene_name": "LPL", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P06858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06858" } ] }, { "ec_number": "3.1.1.34", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P06858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06858" } ] }, { "ec_number": "3.1.1.34", "activity": "", "evidence": [ { "id": "P06858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06858" } ] } ] }, { "uniprot_ac": "P11161", "gene_name": "EGR2", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P11161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11161" } ] } ] }, { "uniprot_ac": "P24928", "gene_name": "POLR2A", "activity": [ { "ec_number": "3.1.13.-", "activity": "", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24928" } ] }, { "ec_number": "2.7.7.48", "activity": "RNA(n) + a ribonucleoside 5'-triphosphate = RNA(n+1) + diphosphate.", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24928" } ] }, { "ec_number": "2.7.7.6", "activity": "RNA(n) + a ribonucleoside 5'-triphosphate = RNA(n+1) + diphosphate.", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24928" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P24928", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P24928" } ] } ] }, { "uniprot_ac": "P30876", "gene_name": "POLR2B", "activity": [ { "ec_number": "3.1.13.-", "activity": "", "evidence": [ { "id": "P30876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30876" } ] }, { "ec_number": "2.7.7.48", "activity": "RNA(n) + a ribonucleoside 5'-triphosphate = RNA(n+1) + diphosphate.", "evidence": [ { "id": "P30876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30876" } ] }, { "ec_number": "2.7.7.6", "activity": "RNA(n) + a ribonucleoside 5'-triphosphate = RNA(n+1) + diphosphate.", "evidence": [ { "id": "P30876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30876" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P30876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30876" } ] } ] }, { "uniprot_ac": "P33121", "gene_name": "ACSL1", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "P33121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33121" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "P33121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33121" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = phytanoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "P33121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33121" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "P33121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33121" } ] }, { "ec_number": "6.2.1.15", "activity": "", "evidence": [ { "id": "P33121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33121" } ] } ] }, { "uniprot_ac": "P49336", "gene_name": "CDK8", "activity": [ { "ec_number": "2.7.11.22", "activity": "L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+).", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P49336" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = phospho-[DNA-directed RNA polymerase] + ADP + H(+).", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P49336" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P49336" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "P49336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P49336" } ] } ] }, { "uniprot_ac": "Q03164", "gene_name": "KMT2A", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q03164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03164" } ] }, { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+).", "evidence": [ { "id": "Q03164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03164" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q03164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q03164" } ] } ] }, { "uniprot_ac": "Q05469", "gene_name": "LIPE", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = glycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05469" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05469" } ] } ] }, { "uniprot_ac": "Q09472", "gene_name": "EP300", "activity": [ { "ec_number": "2.3.1.48", "activity": "L-lysyl-[histone] + acetyl-CoA = N(6)-acetyl-L-lysyl-[histone] + CoA + H(+).", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ] } ] }, { "uniprot_ac": "Q13547", "gene_name": "HDAC1", "activity": [ { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13547" } ] }, { "ec_number": "3.5.1.98", "activity": "N(6)-acetyl-L-lysyl-[histone] + H2O = L-lysyl-[histone] + acetate.", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13547" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13547" } ] } ] }, { "uniprot_ac": "Q14693", "gene_name": "LPIN1", "activity": [ { "ec_number": "3.1.3.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphate + H2O = 1-O-alkyl-2-acyl-sn-glycerol + phosphate.", "evidence": [ { "id": "Q14693", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q14693" } ] }, { "ec_number": "3.1.3.4", "activity": "", "evidence": [ { "id": "Q14693", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q14693" } ] } ] }, { "uniprot_ac": "Q15788", "gene_name": "NCOA1", "activity": [ { "ec_number": "2.3.1.48", "activity": "L-lysyl-[histone] + acetyl-CoA = N(6)-acetyl-L-lysyl-[histone] + CoA + H(+).", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15788" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15788" } ] } ] }, { "uniprot_ac": "Q15910", "gene_name": "EZH2", "activity": [ { "ec_number": "2.1.1.356", "activity": "L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-homocysteine + 3 H(+).", "evidence": [ { "id": "Q15910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15910" } ] }, { "ec_number": "2.1.1.356", "activity": "", "evidence": [ { "id": "Q15910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q15910" } ] } ] }, { "uniprot_ac": "Q16654", "gene_name": "PDK4", "activity": [ { "ec_number": "2.7.11.2", "activity": "L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + ATP = O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + ADP + H(+).", "evidence": [ { "id": "Q16654", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q16654" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q16654", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q16654" } ] } ] }, { "uniprot_ac": "Q86TU7", "gene_name": "SETD3", "activity": [ { "ec_number": "2.1.1.85", "activity": "L-histidyl-[protein] + S-adenosyl-L-methionine = N(tele)-methyl-L-histidyl-[protein] + S-adenosyl-L-homocysteine + H(+).", "evidence": [ { "id": "Q86TU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q86TU7" } ] }, { "ec_number": "2.1.1.85", "activity": "", "evidence": [ { "id": "Q86TU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q86TU7" } ] } ] }, { "uniprot_ac": "Q8NEZ4", "gene_name": "KMT2C", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+).", "evidence": [ { "id": "Q8NEZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NEZ4" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8NEZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NEZ4" } ] } ] }, { "uniprot_ac": "Q8WTS6", "gene_name": "SETD7", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+).", "evidence": [ { "id": "Q8WTS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8WTS6" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8WTS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8WTS6" } ] } ] }, { "uniprot_ac": "Q92793", "gene_name": "CREBBP", "activity": [ { "ec_number": "2.3.1.48", "activity": "L-lysyl-[histone] + acetyl-CoA = N(6)-acetyl-L-lysyl-[histone] + CoA + H(+).", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ] } ] }, { "uniprot_ac": "Q92831", "gene_name": "KAT2B", "activity": [ { "ec_number": "2.3.1.48", "activity": "L-lysyl-[histone] + acetyl-CoA = N(6)-acetyl-L-lysyl-[histone] + CoA + H(+).", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92831" } ] }, { "ec_number": "2.3.1.57", "activity": "an alkane-alpha,omega-diamine + acetyl-CoA = an N-acetylalkane-alpha,omega-diamine + CoA + H(+).", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92831" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92831" } ] } ] }, { "uniprot_ac": "Q96AD5", "gene_name": "PNPLA2", "activity": [ { "ec_number": "3.1.1.4", "activity": "a 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = a 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96AD5" } ] } ] }, { "uniprot_ac": "Q96LA8", "gene_name": "PRMT6", "activity": [ { "ec_number": "2.1.1.319", "activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine + 2 H(+).", "evidence": [ { "id": "Q96LA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96LA8" } ] }, { "ec_number": "2.1.1.319", "activity": "", "evidence": [ { "id": "Q96LA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96LA8" } ] } ] }, { "uniprot_ac": "Q96PD7", "gene_name": "DGAT2", "activity": [ { "ec_number": "2.3.1.20", "activity": "an acyl-CoA + a 1,2-diacyl-sn-glycerol = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96PD7" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96PD7" } ] }, { "ec_number": "2.3.1.76", "activity": "", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96PD7" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q96PD7" } ] } ] }, { "uniprot_ac": "Q99685", "gene_name": "MGLL", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q99685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99685" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q99685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99685" } ] } ] }, { "uniprot_ac": "Q99873", "gene_name": "PRMT1", "activity": [ { "ec_number": "2.1.1.319", "activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine + 2 H(+).", "evidence": [ { "id": "Q99873", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99873" } ] }, { "ec_number": "2.1.1.319", "activity": "", "evidence": [ { "id": "Q99873", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99873" } ] } ] }, { "uniprot_ac": "Q9BZ95", "gene_name": "NSD3", "activity": [ { "ec_number": "2.1.1.370", "activity": "L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-homocysteine + 2 H(+).", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BZ95" } ] }, { "ec_number": "2.1.1.371", "activity": "L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-homocysteine + 2 H(+).", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BZ95" } ] }, { "ec_number": "2.1.1.371", "activity": "", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": 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