{
"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",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O14686",
"id": "O14686"
},
{
"name": "AAD10; ALR; BCAHH; CAGL114; KABUK1; KMS; MLL2; MLL4; TNRC21",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473",
"id": "NP_003473"
},
{
"name": "ALR",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14686",
"id": "O14686"
},
{
"name": "KMT2D",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473",
"id": "NP_003473"
},
{
"name": "MLL2",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14686",
"id": "O14686"
},
{
"name": "MLL4",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14686",
"id": "O14686"
}
],
"protein_names": [
{
"name": "Histone-lysine N-methyltransferase 2D",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O14686"
},
{
"name": "2.1.1.364",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14686"
},
{
"name": "ALL1-related protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14686"
},
{
"name": "Lysine N-methyltransferase 2D",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14686"
},
{
"name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14686"
},
{
"name": "histone-lysine N-methyltransferase 2D",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473",
"id": "NP_003473"
},
{
"name": "trinucleotide repeat containing 21; Kabuki make-up syndrome; histone-lysine N-methyltransferase MLL2; ALL1-related protein; lysine (K)-specific methyltransferase 2D; lysine N-methyltransferase 2D; myeloid/lymphoid or mixed-lineage leukemia 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473",
"id": "NP_003473"
}
],
"function": [
{
"annotation": "EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_003473",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473"
},
{
"database": "PubMed",
"id": "38015024",
"url": "https://glygen.org/publication/PubMed/38015024"
}
]
},
{
"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:25561738, PubMed:17500065). 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/uniprot/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"
}
]
},
{
"annotation": "SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_003473",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473"
},
{
"database": "PubMed",
"id": "37800171",
"url": "https://glygen.org/publication/PubMed/37800171"
}
]
},
{
"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"
}
]
},
{
"annotation": "[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_003473",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473"
},
{
"database": "PubMed",
"id": "37550041",
"url": "https://glygen.org/publication/PubMed/37550041"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0060473",
"recommended_name": {
"id": "DOID:0060473",
"resource": "Disease Ontology",
"url": "http://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": "http://disease-ontology.org/term/DOID:0060473",
"name": "KMS",
"description": ""
},
{
"id": "DOID:0060473",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060473",
"name": "Kabuki make up syndrome",
"description": ""
},
{
"id": "DOID:0060473",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060473",
"name": "Niikawa-Kuroki syndrome",
"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": "MONDO:0010465",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010465",
"name": "KABUKI syndrome 2",
"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: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 make-Up syndrome",
"description": ""
},
{
"id": "MONDO:0007843",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007843",
"name": "Kabuki syndrome",
"description": ""
},
{
"id": "MONDO:0007843",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007843",
"name": "Niikawa-Kuroki syndrome",
"description": ""
},
{
"id": "MIM:300867",
"resource": "MIM",
"url": "https://www.omim.org/entry/300867",
"name": "Kabuki syndrome 2",
"description": "Kabuki syndrome 2"
},
{
"id": "MIM:147920",
"resource": "MIM",
"url": "https://www.omim.org/entry/147920",
"name": "Kabuki syndrome 1",
"description": "Kabuki syndrome 1"
}
],
"evidence": [
{
"id": "147920",
"database": "MIM",
"url": "https://www.omim.org/entry/147920"
}
]
},
{
"disease_id": "MONDO:0859345",
"recommended_name": {
"id": "MONDO:0859345",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0859345",
"name": "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome",
"description": ""
},
"synonyms": [
{
"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"
}
],
"evidence": [
{
"id": "620186",
"database": "MIM",
"url": "https://www.omim.org/entry/620186"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs751430894",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751430894"
},
{
"id": "rs751430894",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751430894"
},
{
"id": "rs751430894",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs751430894"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 108,
"end_pos": 108,
"sequence_org": "A",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NES).",
"chr_id": "12",
"chr_pos": "49053483",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "A108",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1233258179",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233258179"
},
{
"id": "rs1233258179",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1233258179#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 108,
"end_pos": 108,
"sequence_org": "A",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET).",
"chr_id": "12",
"chr_pos": "49054606",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "A108",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs754250785",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754250785"
},
{
"id": "rs754250785",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754250785"
},
{
"id": "rs754250785",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs754250785#frequency_tab"
},
{
"id": "rs754250785",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs754250785"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 11,
"end_pos": 11,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KDS->NDS).",
"chr_id": "12",
"chr_pos": "49055292",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "K11",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs758588319",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758588319"
},
{
"id": "rs758588319",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758588319"
},
{
"id": "rs758588319",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs758588319#frequency_tab"
},
{
"id": "rs758588319",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs758588319"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 1217,
"end_pos": 1217,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS).",
"chr_id": "12",
"chr_pos": "49049938",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S1217",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1424469118",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424469118"
},
{
"id": "rs1424469118",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1424469118#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 1305,
"end_pos": 1305,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).",
"chr_id": "12",
"chr_pos": "49049211",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S1305",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs770164509",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770164509"
},
{
"id": "rs770164509",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770164509"
},
{
"id": "rs770164509",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs770164509#frequency_tab"
},
{
"id": "rs770164509",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs770164509"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 1917,
"end_pos": 1917,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRT->NRT).",
"chr_id": "12",
"chr_pos": "49042773",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S1917",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1427649634",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427649634"
},
{
"id": "rs1427649634",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1427649634#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 1937,
"end_pos": 1937,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).",
"chr_id": "12",
"chr_pos": "49042615",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S1937",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O14686",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14686"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 2029,
"end_pos": 2029,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFP->NFS).",
"chr_id": "12",
"chr_pos": "49042113",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "P2029",
"disease": [
{
"disease_id": "DOID:4159",
"recommended_name": {
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "skin cancer",
"description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
},
"synonyms": [
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "CA - skin cancer",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "malignant neoplasm of skin",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "melanoma and Non-melanoma skin cancer",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs766985576",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766985576"
},
{
"id": "rs766985576",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766985576"
},
{
"id": "rs766985576",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs766985576#frequency_tab"
},
{
"id": "rs766985576",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs766985576"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 2126,
"end_pos": 2126,
"sequence_org": "I",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IGS->NGS).",
"chr_id": "12",
"chr_pos": "49041393",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I2126",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1432001329",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432001329"
},
{
"id": "rs1432001329",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1432001329"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 2256,
"end_pos": 2256,
"sequence_org": "A",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).",
"chr_id": "12",
"chr_pos": "49041004",
"ref_nt": "A",
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{
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},
{
"id": "MONDO:0008903",
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{
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{
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{
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{
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}
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{
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{
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{
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{
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},
{
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},
{
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},
{
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{
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{
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{
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},
{
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},
{
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},
{
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},
{
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},
{
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"resource": "MONDO",
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{
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{
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{
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{
"id": "rs1051071277",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1051071277"
},
{
"id": "rs1051071277",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1051071277"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 5267,
"end_pos": 5267,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRI->NRT).",
"chr_id": "12",
"chr_pos": "49024928",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I5267",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O14686",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14686"
}
],
"glycoeffect": [],
"start_pos": 5351,
"end_pos": 5351,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
"sequence_mut": "L",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "12",
"chr_pos": "49024578",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "R5351",
"disease": [
{
"disease_id": "DOID:4159",
"recommended_name": {
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "skin cancer",
"description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
},
"synonyms": [
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "CA - skin cancer",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "malignant neoplasm of skin",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "melanoma and Non-melanoma skin cancer",
"description": ""
}
]
},
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://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",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
},
{
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"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
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},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
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},
{
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"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
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]
}
],
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"disease"
]
},
{
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{
"id": "O14686",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14686"
}
],
"glycoeffect": [
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"o-glyco-site-loss"
],
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{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
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{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
],
"keywords": [
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"cancer",
"disease"
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},
{
"evidence": [
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"id": "O14686",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14686"
}
],
"glycoeffect": [],
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"end_pos": 5432,
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"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
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"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
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"alt_nt": "T",
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"site_lbl": "R5432",
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
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},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
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}
]
},
{
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"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
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},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large intestine tumor",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
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{
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{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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{
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{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
"id": "MONDO:0005575",
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"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MIM:114500",
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}
]
},
{
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"url": "http://disease-ontology.org/term/DOID:4159",
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{
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},
{
"id": "DOID:4159",
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"url": "http://disease-ontology.org/term/DOID:4159",
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},
{
"id": "DOID:4159",
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"url": "http://disease-ontology.org/term/DOID:4159",
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}
]
}
],
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}
],
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{
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{
"database": "UniProtKB",
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{
"database": "PubMed",
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]
}
],
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},
{
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{
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},
{
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{
"database": "Bgee",
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},
{
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{
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]
},
{
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"id": "0001043",
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{
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]
},
{
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{
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{
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},
{
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]
},
{
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{
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{
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]
},
{
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},
{
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]
}
],
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{
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],
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
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},
{
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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},
{
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},
{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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"description": ""
},
{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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"description": ""
},
{
"id": "MONDO:0012244",
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"description": ""
},
{
"id": "MONDO:0012244",
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"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
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},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
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"description": ""
},
{
"id": "MONDO:0012093",
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"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
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"description": ""
},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"description": ""
},
{
"id": "MONDO:0012093",
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"description": ""
},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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"name": "prostate cancer, susceptibility to, 4",
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},
{
"id": "MONDO:0012094",
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"name": "HPC4",
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},
{
"id": "MONDO:0012094",
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"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
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"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",
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"name": "MSMB familial prostate cancer",
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},
{
"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",
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"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
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"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
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"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
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"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:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"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:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"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:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"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:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"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:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"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: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:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"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": "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:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://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": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
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},
"synonyms": [
{
"id": "DOID:10534",
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"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
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"url": "http://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": "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": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://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": {
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},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
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},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://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",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://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": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "O14686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14686"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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"url": "https://www.uniprot.org/uniprot/A0A8I5KTR4-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KU18",
"url": "https://www.uniprot.org/uniprot/A0A8I5KU18",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KU18-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KU18-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KU33",
"url": "https://www.uniprot.org/uniprot/A0A8I5KU33",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KU33-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KU33-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KU95",
"url": "https://www.uniprot.org/uniprot/A0A8I5KU95",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KU95-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KU95-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KX79",
"url": "https://www.uniprot.org/uniprot/A0A8I5KX79",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KX79-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KX79-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KYU5",
"url": "https://www.uniprot.org/uniprot/A0A8I5KYU5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KYU5-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KYU5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJ79",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJ79",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJ79-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJ79-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJA0",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJA0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJA0-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJA0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJD3",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJD3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJD3-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJD3-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJD5",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJD5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJD5-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJD5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJE4",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJE4",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QJE4-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QJE4-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QKN1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QKN1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QKN1-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QKN1-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QKP3",
"url": "https://www.uniprot.org/uniprot/A0A8I5QKP3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5QKP3-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5QKP3-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O14686",
"url": "https://www.uniprot.org/uniprot/O14686",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O14686-1",
"url": "https://www.uniprot.org/uniprot/O14686-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O14686-3",
"url": "https://www.uniprot.org/uniprot/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": "",
"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=2 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": "",
"sequence": {
"sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRVFTSIISFDPHNNLMRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN",
"length": 5553,
"header": "tr|A0A804HHR9-1|A0A804HHR9_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": 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": "",
"sequence": {
"sequence": "YIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQPPLPLSDTLVPSSATSAFLESRHLHVPNKQ",
"length": 321,
"header": "tr|A0A804HJB5-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "QQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRSGVLVIPPSLVPTRPLLLRE",
"length": 660,
"header": "tr|A0A8I5KNS6-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGALLPLHQARCLHPLPLTWMSTALPLPLRDCQRFLPIHENTAAAMPRAQ",
"length": 181,
"header": "tr|A0A8I5KPB7-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "KLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKENNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIP",
"length": 183,
"header": "tr|A0A8I5KQ09-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "KMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPEPEWRDGGSGGAAEHEDPQLL",
"length": 135,
"header": "tr|A0A8I5KQD6-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "PGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRNSNNCGSNNRQQQQPPCDLPCQLAFHQLLDLNLAAKP",
"length": 717,
"header": "tr|A0A8I5KQT2-1|KMT2D_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": 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": "",
"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": "",
"sequence": {
"sequence": "MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN",
"length": 5536,
"header": "tr|A0A8I5KSG1-1|KMT2D_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": "",
"sequence": {
"sequence": "NLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQPDPSPVPGPLKKVKIPVLLASRNGKECAGSGFGCC",
"length": 122,
"header": "tr|A0A8I5KTR4-1|KMT2D_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": 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": "",
"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": "",
"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": "",
"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": "",
"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": "",
"sequence": {
"sequence": "NLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQPCGIASLSLWLP",
"length": 99,
"header": "tr|A0A8I5KYU5-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "ERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKE",
"length": 630,
"header": "tr|A0A8I5QJ79-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "XPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNS",
"length": 825,
"header": "tr|A0A8I5QJA0-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "RCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRAWRYPH",
"length": 207,
"header": "tr|A0A8I5QJD3-1|KMT2D_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": 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": "",
"sequence": {
"sequence": "XRPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESAKVSMNCAHSCPGWRAVKTIYSAMGATPLWSCHS",
"length": 383,
"header": "tr|A0A8I5QJD5-1|KMT2D_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": 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": "",
"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": "",
"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": "",
"sequence": {
"sequence": "LPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN",
"length": 204,
"header": "tr|A0A8I5QKP3-1|KMT2D_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": 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": "",
"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": "",
"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": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 2402,
"start_aa": "Ser",
"end_pos": 2402,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser2402",
"evidence": [
{
"id": "O14686",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686"
},
{
"id": "23301498",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23301498"
},
{
"id": "34846842",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34846842"
},
{
"id": "35138101",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35138101"
},
{
"id": "32574038",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/32574038"
},
{
"id": "30059200",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30059200"
},
{
"id": "35254053",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35254053"
},
{
"id": "31492838",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/31492838"
},
{
"id": "30620550",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30620550"
},
{
"id": "35289036",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35289036"
},
{
"id": "29351928",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29351928"
},
{
"id": "28657654",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28657654"
},
{
"id": "O14686",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O14686"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 2405,
"start_aa": "Ser",
"end_pos": 2405,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser2405",
"evidence": [
{
"id": "O14686",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686"
},
{
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},
{
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},
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},
{
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},
{
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},
{
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"url": "https://glygen.org/publication/PubMed/28657654"
},
{
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"url": "https://oglcnac.org/atlas/detail/O14686"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 2488,
"start_aa": "Ser",
"end_pos": 2488,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser2488",
"evidence": [
{
"id": "O14686",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O14686"
},
{
"id": "34846842",
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}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 2699,
"start_aa": "Thr",
"end_pos": 2699,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr2699",
"evidence": [
{
"id": "O14686",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686"
},
{
"id": "23301498",
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},
{
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},
{
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},
{
"id": "32574038",
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},
{
"id": "30059200",
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},
{
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},
{
"id": "31492838",
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},
{
"id": "30620550",
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},
{
"id": "35289036",
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"url": "https://glygen.org/publication/PubMed/35289036"
},
{
"id": "29351928",
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},
{
"id": "28657654",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28657654"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 2719,
"start_aa": "Ser",
"end_pos": 2719,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser2719",
"evidence": [
{
"id": "O14686",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686"
},
{
"id": "23301498",
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{
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},
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},
{
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},
{
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},
{
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},
{
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},
{
"id": "28657654",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28657654"
},
{
"id": "O14686",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O14686"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 4772,
"start_aa": "Thr",
"end_pos": 4772,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr4772",
"evidence": [
{
"id": "O14686",
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"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686"
},
{
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},
{
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{
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"url": "https://glygen.org/publication/PubMed/35138101"
},
{
"id": "32574038",
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},
{
"id": "30059200",
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},
{
"id": "35254053",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35254053"
},
{
"id": "31492838",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/31492838"
},
{
"id": "30620550",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30620550"
},
{
"id": "35289036",
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"url": "https://glygen.org/publication/PubMed/35289036"
},
{
"id": "29351928",
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},
{
"id": "28657654",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28657654"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 4822,
"start_aa": "Ser",
"end_pos": 4822,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser4822",
"evidence": [
{
"id": "O14686",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14686"
},
{
"id": "23301498",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23301498"
},
{
"id": "34846842",
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},
{
"id": "35138101",
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},
{
"id": "32574038",
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},
{
"id": "30059200",
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},
{
"id": "35254053",
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"url": "https://glygen.org/publication/PubMed/35254053"
},
{
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"MDSQKPPAEDKDSDPAADGLAAPEKPGATEPHLPILCIGEVSVPSSGSSRLQKPPHDCSGGPARRCALCNCGEPSLHGQRELQRFELPSDWPGFPVVSSGGSSGPCEAVLPNEDLSQIGFPEGLTPAHLGEPGGHCWAHHWCAAWSAGVWGQEGPELCGVDKAVFSGISQRCSHCARFGASVPCRSPGCSRLYHFPCATASGSFLSMRTLQLLCPEHSDGAAHLEEAHCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPIEDLPAHSWKCKTCRICRACGAGSADLNPNSEWFENYSLCHRCHKVQGSQPVISVAEQHPAVCSRFSPPEPGETPTEEPSALYVTCQGQPKGTHVTSVQPKEPGPLQCEAKPLGREGTQLEAQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPTEESPLSPPPESSPFSPLEESPPSPALDTPLSPPPEASPLSPPFEESPLSPPPEELPSSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEDSPLSPPPEASRLSPPPEDSPMSPPPEDSPMSPPPEVSRFSPLPVLSHLSPLPEVSRLSPPPEESPLSPPPEDSPTSPPPEASRLSPPPEDSPASPPPEASQLSPPHEESPASPPPEDSLMSLPMEESPLSPLPEELRLCPQPEEPYLSPQPEEPRLCLQPEELPLSPQSEEPCLSPVLAEPCLSSQPEELRLSPVPQEPHLSPQPKQLHLSPQSEEPCLSPMPEEPCLYSQPEELHRSPQPQEPPEEPSQCPAPKELSLFPPSREPPLSPMLREPALSEPGEPPLSPLPEELPLSLSGEPVLSPQLMPPDPLPPPLSPIIPAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPMGPASPILMGPLPPPCSPLLQHSLPPPTPPPSHCSPPALPLSVPSPLSPVQKEVGVSGEAGLHEMETEKGPEPECPALEPRATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTTPLDGTDADPLQSQTGQNSGSLASELKGSPVLLDPEELIPVTPMEVYGPECKQAEQGSPCEEQEEPGAPMAPMPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGAGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDTGTATSGGKAEGDKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAAHGGRGRGRARLKSTTSSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDEVEQAADEGFDCVSCQPYVVKPVVPVAPPELVPVKVKEPEPQFFRFEGVWLTETGMAVLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTEELLKGEGGVEQMECEIKLEGPASPDVELGKEETEESKKRKRKPYRPGIGGFMIRQRKSHTRVKRGPAAQAEGSSGDGQPDEVMPADLPAEGSVEQSLAEGDEKKKQQRRGRRKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPGFGLGTSKPRGDGGSDRKELVTALHKGDDGPDVADEESHGPEGTADVAGLEDGAVKASPVPSDPEKPGTPGEGVLSSDLDRIPTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLALGSLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQISKQAKMGDVARKTERPALHLRIPSQPGALGSPPPAAAPTIFLGSPTTPAGLSTSADGFLKPPAGTVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYAPEPRFSAAPPTYPPYPSPTGAPVQPPMLGTTTRPGTGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVAGGKASEPLLSPPPFGESRKSLEVKKEDLGASSPGYGPPNLGCVDSPSSGPHLGGLELKAPDVFKAPLTPRASQVEPQSPGLGLRAQEPPPAQALAPSPPNHPDIFRSGPYPDPYAQPPLTPRPQPPPPESCCAPPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSTEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGPLAHTPLGAGGFPAALPSGPAGELHAKVPSGQPTHFARSPGTGTFAGTPSPMRFTFPQGVGEPSLKPPVPQPGLPSPHGINSHFGPGPTLGKPQSTNYAVATGNFHPSGSPLGPNSGPTGEGYGLSPLRPASVLPPPTPDGSLPYLSHGASQRVGITSPVEKREDPGATMSSSSVATPELSSAQDTGMSSLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGNWGAEPSGPAFDQLSRAQTPFTGSQDRNSVVGLPSSKLGGPILGPGAFSSDDRLSRPLPPATPSSMDMNSRQLVGGSQAFYQRTPYPGSLPLQQQQQQQQQQQQQQQQQQQQQQLWQQQQAAAAAATSMRLAMSARFPSTPGPELGRQALGSPLAGIPTRLPGPAEPVPGPAGPAQFIELRHNVQKGLGPGVSPFPGQGPPQRPRFYPISEEPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHQPPHTKGPTLPAGLELVSRPPSTTDLGRPPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLEHLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPISLGPEEQRPPPAPDNSEPRLTSVLPEVKPKVEEGGRHPSPCQFTINTPKVEPAPPATPLSLGLKPGQTVMGSRDTRVGVGTGPFPSSGHTAEKGPFGATGGTPAHLLNPSSLSGSAGSSLLEKFELESGTLTLPSGNVAPGDELDKMESSLVASELPLLIEDLLEHEKKELQKRQQLSAQTVLPAQPQQQQQQHQHPLLPVPGPAQALPLPHESGPPQQLALGLGSTRQPGLGQSMMAAQSPAHALQQRLAPSVAMVSNQGHMLSGQQAGQTGLVPQQSSQPVLAQKPMNAMPASMCMKPQQLAMQQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGASGSDLQNHAAAGSGQERNASDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQHSAVLAVSPSQNPRVLTKHPGQLLPGHGLQPPQVPPGGQAGGLRLPPGGMVLPGQSGGPFLNTTLAQQQQQQQQQQQQQQQQQQHSGVAGSLTGPSGSFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQQQQLLGQVAVQQQQGPVGQNQALGPKPQGLLPPSNHQGLLVQQLSPQQSQGSQGMLGSSQVAVLQQQQQQQQQQQQQQQQQHSGALGPQGPHRQVLMTQSRVLSSPQLAQQGHGLMGHRLLTAQQQQQQQQQQQQQQQQQQQGSMTGLSQLQQGMMSHGGQPKMSVQALGSLQQQQQQQQQLQQQQQQMQQLQQQQQQQLQQQQQQQMQQLQQQQQQLQQQQQQQQQQQQLHLQQQLHQQQQLQQQQLQLQQQQQQMSLLNQNRTLLSPQQQQQQQQQVTLGPGMPVKPLQHFSSPGALGPALLLTGKEQNIAETALPSEVTEGPSAHQGGPPTVGTTPESMSVEPGEVKPSISGDSQLLLVQSQPTSVQLQPPLRLPGQPQQVNLLHTTGGGSHGQQLGSGSSSEAPSGPHLLAQPSVSLGEQPGPMAQNLLGSQQPLGLERPIQNNTGSQPPKSGPAPQSGQGPPGVGVMPTVGQLRAQLQGVLAKTPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQMPPGQESGTQPSPLQGLLGCQPQPGVFSASQIGPLQELGAGSRPQGPPRLPVPQGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSAQLTPTHPGTPKPQGPASELPPGRVSPAAAQLADAFFGKGLGPWDPSDNLPEAQKPEQSSLAAGRLEQVNGQVAHEPSHLSIKQEPREEPCALGAQTVKREANGEPAGAPGTSNHLLLAGSRSEAGHLLLQKLLRAKNVQLGAGRGPEGLRAEINGHVDSKLSGQEQKLQGTSSSKEDAAARKPLMAKPKRVQKTSDRLASSRKKLRKEDGVRANEALLKQLKQELSQLPLTEPTITANFSLFAPFGSGCLVGGQSQLRGAFGSGALHTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASAQDSERTLKDAAEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPQLGSGRWEQDTRALSPVIPIIPRTSIPVFPDTKPYGVLDLEVPGKPPATAWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPDGPARAGLEPKKGETEGSGGKEKGLSGRGPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPSIQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPAEPMVELQAEPPAEPPIPSPLPLASSPEATRPKPRARPPDESEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPSKVPRDNRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATGSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSISENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN",
"length": 5544
},
"evidence": [
{
"id": "O14686",
"url": "https://omabrowser.org/oma/group/O14686/",
"database": "OMA"
}
],
"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": "45920269",
"url": "http://www.informatics.jax.org/homology/45920269",
"database": "MGI"
},
{
"id": "O14686",
"url": "https://omabrowser.org/oma/group/O14686/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"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/uniprot/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/uniprot/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/uniprot/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/uniprot/O14686"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 9,
"go_terms": [
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
"evidence": [
{
"database": "UniProtKB",
"id": "O14686",
"url": "https://www.uniprot.org/uniprot/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/uniprot/O14686"
}
],
"pmid": ""
},
{
"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/uniprot/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/uniprot/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/uniprot/O14686"
}
],
"pmid": ""
},
{
"name": "histone binding",
"id": "GO:0042393",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393",
"evidence": [
{
"database": "UniProtKB",
"id": "O14686",
"url": "https://www.uniprot.org/uniprot/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/uniprot/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/uniprot/O14686"
}
],
"pmid": ""
},
{
"name": "histone H3K4 trimethyltransferase activity",
"id": "GO:0140999",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140999",
"evidence": [
{
"database": "UniProtKB",
"id": "O14686",
"url": "https://www.uniprot.org/uniprot/O14686"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 12,
"go_terms": [
{
"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/uniprot/O14686"
}
],
"pmid": ""
},
{
"name": "protein-containing complex organization",
"id": "GO:0043933",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043933",
"evidence": [
{
"database": "UniProtKB",
"id": "O14686",
"url": "https://www.uniprot.org/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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/uniprot/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 = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"D4ADE5-1",
"A0A0G2JVD6-1",
"A0A0G2K1E3-1",
"F1M0L3-1",
"A0A8I6A4Z1-1",
"Q9NVD3-1",
"Q8WTS6-1",
"Q9UPS6-1",
"Q8NEZ4-1",
"Q9UMN6-1",
"O14686-1",
"Q03164-1",
"O15047-1",
"Q8BRH4-1",
"Q6PDK2-1",
"O08550-1",
"P58467-1",
"P55200-1",
"Q8CFT2-1",
"Q8VHL1-1",
"E9PYH6-1",
"Q54J80-1"
],
"evidence": [
{
"id": "60264",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/60264"
}
]
},
{
"id": "R-HSA-3364014",
"name": "Recruitment of SET1 methyltransferase complex",
"equation": "",
"summary": "A number of SET1-type complex proteins are pulled down from HeLa and SW480 extracts by a fragment of beta-catenin consisting of ARM repeats 11 and 12 and the adjacent C-terminal activation domain (Sierra et al, 2006). SET1 complexes are histone methyltransferases that promote H3K4 trimethylation in a manner that depends on prior ubiquitination of H2B; H3K4 is a mark associated with active chromatin (reviewed in Shilatifard, 2006). ChIP experiments show that SET1 complex members MLL2, MEN1, RBBP5 and ASH2L cycle on and off the MYC promoter in vivo in a complex with BCL9, PYGO and beta-catenin. Recruitment of the SET proteins correlates with increased H3K4me3 and transcription of the MYC gene, and endogenous mMYC mRNA levels decline somewhat in the presence of MLL2 siRNA. These data suggest that the C-terminal of beta-catenin interacts with a functional histone H3 methyltransferase complex that activates WNT-target gene transcription (Sierra et al, 2006).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14686-1"
],
"evidence": [
{
"id": "R-HSA-3364014",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3364014"
}
]
},
{
"id": "R-HSA-3364026",
"name": "SET1 complex trimethylates H3K4 at the MYC gene",
"equation": "",
"summary": "The recruitment of SET1-type complexes at the MYC enhancer correlates with increased H3K4 trimethylation in vivo, a mark associated with active chromatin (Sierra et al, 2006). Studies in yeast have shown that H3K4 trimethylation depends on previous H2B ubiquitination by Rad6 and Bre1, which in turn are recruited to DNA by the Paf1 complex (reviewed in Shilatifard, 2006). In this context, the identification of Paf1 components as interactors with the C-terminal activation domain of beta-catenin is intriguing (Sierra et al, 2006)",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14686-1"
],
"evidence": [
{
"id": "R-HSA-3364026",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3364026"
}
]
},
{
"id": "R-HSA-3364042",
"name": "APC promotes disassembly of beta-catenin transactivation complex",
"equation": "",
"summary": "Studies in mouse myoblast and colorectal cancer cell lines show that APC, beta-TrCP and the CTBP corepressor are present at the MYC enhancer at times when beta-catenin and its associated coactivators are also present. Binding of APC is correlated with dissociation of the activator complex and precedes recruitment of TLE1 and HDAC1, suggesting that APC may promote the exchange between activator and repressor complexes at the enhancer (Sierra et al, 2006). CSNK1gamma phosphorylation of APC strongly increases its affinity for beta-catenin, and a phosphorylated APC fragment disrupts the formation of a DNA:LEF1:beta-catenin complex by EMSA, consistent with previous reports (Xing et al, 2003; Xing et al, 2004; Sierra et al, 2006). Because beta-catenin is unable to simultaneously bind APC and TCF/LEF, however, the mechanism of APC recruitment to the enhancer complex is unclear (Sierra et al, 2006). Full-length APC associates with CTBP in vitro and in vivo (Hamada and Bienz, 2004; Sierra et al, 2006) while Class I and Class II mutant APC proteins, which are commonly found in colorectal cancers, do not (Sierra et al, 2006; reviewed in Neufeld, 2009). CTBP repressor functions may therefore include facilitating the exchange of coactivator and corepressor complexes at WNT target genes.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-212372",
"R-HSA-3361753",
"R-HSA-3361755"
],
"output_participant_list": [
"R-HSA-1183219",
"R-HSA-1629834",
"R-HSA-1629836",
"R-HSA-2186626"
],
"enzyme_list": [
"O14686-1",
"Q13363-1"
],
"evidence": [
{
"id": "R-HSA-3364042",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3364042"
}
]
},
{
"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-209680",
"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": [
"R-HSA-8936978"
],
"output_participant_list": [
"R-HSA-549142"
],
"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 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 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"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-5334804",
"participant_name": "atRA [nucleoplasm]",
"crossref": [
{
"id": "15367",
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"id": "3NIF",
"database": "PDB",
"url": ""
},
{
"id": "7U9V",
"database": "PDB",
"url": ""
},
{
"id": "2VDR",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8935722",
"participant_name": "ITGA2B gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000005961",
"database": "ENSEMBL",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8936595",
"participant_name": "GP1BA gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000185245",
"database": "ENSEMBL",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8936978",
"participant_name": "THBS1 gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000137801",
"database": "ENSEMBL",
"url": ""
}
]
}
],
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{
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"gene_name": "Kmt2d",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
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"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "A0A0G2JVD6",
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}
]
}
]
},
{
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"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "A0A0G2K1E3",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "A0A0G2K1E3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2K1E3"
}
]
}
]
},
{
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"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "A0A8I6A4Z1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6A4Z1"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "A0A8I6A4Z1",
"database": "UniProtKB",
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}
]
}
]
},
{
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"gene_name": "Setd7",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "D4ADE5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D4ADE5"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "D4ADE5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D4ADE5"
}
]
},
{
"ec_number": "2.1.1.-",
"activity": "",
"evidence": [
{
"id": "D4ADE5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D4ADE5"
}
]
}
]
},
{
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"gene_name": "Setd1a",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
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{
"id": "E9PYH6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9PYH6"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "E9PYH6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9PYH6"
}
]
}
]
},
{
"uniprot_ac": "F1M0L3",
"gene_name": "Kmt2a",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "F1M0L3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/F1M0L3"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "F1M0L3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/F1M0L3"
}
]
}
]
},
{
"uniprot_ac": "O08550",
"gene_name": "Kmt2b",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "O08550",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O08550"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "O08550",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O08550"
}
]
}
]
},
{
"uniprot_ac": "O14686",
"gene_name": "KMT2D",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "O14686",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14686"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "O14686",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14686"
}
]
}
]
},
{
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"gene_name": "SETD1A",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "O15047",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15047"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "O15047",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15047"
}
]
}
]
},
{
"uniprot_ac": "O15379",
"gene_name": "HDAC3",
"activity": [
{
"ec_number": "3.5.1.98",
"activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].",
"evidence": [
{
"id": "O15379",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15379"
}
]
},
{
"ec_number": "3.5.1.98",
"activity": "",
"evidence": [
{
"id": "O15379",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15379"
}
]
},
{
"ec_number": "3.5.1.-",
"activity": "",
"evidence": [
{
"id": "O15379",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15379"
}
]
}
]
},
{
"uniprot_ac": "O15550",
"gene_name": "KDM6A",
"activity": [
{
"ec_number": "1.14.11.68",
"activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(27)-[histone H3] + 2 succinate.",
"evidence": [
{
"id": "O15550",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15550"
}
]
},
{
"ec_number": "1.14.11.68",
"activity": "",
"evidence": [
{
"id": "O15550",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15550"
}
]
}
]
},
{
"uniprot_ac": "O75928",
"gene_name": "PIAS2",
"activity": [
{
"ec_number": "2.3.2.-",
"activity": "",
"evidence": [
{
"id": "O75928",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75928"
}
]
}
]
},
{
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"gene_name": "EGR2",
"activity": [
{
"ec_number": "2.3.2.-",
"activity": "",
"evidence": [
{
"id": "P11161",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11161"
}
]
}
]
},
{
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"gene_name": "POLR2A",
"activity": [
{
"ec_number": "2.7.7.6",
"activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).",
"evidence": [
{
"id": "P24928",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24928"
}
]
},
{
"ec_number": "2.7.7.6",
"activity": "",
"evidence": [
{
"id": "P24928",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24928"
}
]
},
{
"ec_number": "2.7.7.48",
"activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).",
"evidence": [
{
"id": "P24928",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24928"
}
]
}
]
},
{
"uniprot_ac": "P30876",
"gene_name": "POLR2B",
"activity": [
{
"ec_number": "2.7.7.6",
"activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).",
"evidence": [
{
"id": "P30876",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30876"
}
]
},
{
"ec_number": "2.7.7.6",
"activity": "",
"evidence": [
{
"id": "P30876",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30876"
}
]
}
]
},
{
"uniprot_ac": "P55200",
"gene_name": "Kmt2a",
"activity": [
{
"ec_number": "2.1.1.-",
"activity": "",
"evidence": [
{
"id": "P55200",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55200"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "P55200",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55200"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "P55200",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55200"
}
]
}
]
},
{
"uniprot_ac": "P58467",
"gene_name": "Setd4",
"activity": [
{
"ec_number": "2.1.1.-",
"activity": "",
"evidence": [
{
"id": "P58467",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58467"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "P58467",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58467"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "P58467",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58467"
}
]
}
]
},
{
"uniprot_ac": "Q03164",
"gene_name": "KMT2A",
"activity": [
{
"ec_number": "2.1.1.-",
"activity": "",
"evidence": [
{
"id": "Q03164",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q03164"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q03164",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q03164"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q03164",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q03164"
}
]
}
]
},
{
"uniprot_ac": "Q09472",
"gene_name": "EP300",
"activity": [
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q09472",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q09472"
}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q09472",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q09472"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q09472",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q09472"
}
]
}
]
},
{
"uniprot_ac": "Q13363",
"gene_name": "CTBP1",
"activity": [
{
"ec_number": "1.1.1.-",
"activity": "",
"evidence": [
{
"id": "Q13363",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13363"
}
]
}
]
},
{
"uniprot_ac": "Q13547",
"gene_name": "HDAC1",
"activity": [
{
"ec_number": "3.5.1.98",
"activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].",
"evidence": [
{
"id": "Q13547",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13547"
}
]
},
{
"ec_number": "3.5.1.98",
"activity": "",
"evidence": [
{
"id": "Q13547",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13547"
}
]
},
{
"ec_number": "3.5.1.-",
"activity": "",
"evidence": [
{
"id": "Q13547",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13547"
}
]
}
]
},
{
"uniprot_ac": "Q15910",
"gene_name": "EZH2",
"activity": [
{
"ec_number": "2.1.1.356",
"activity": "L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q15910",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15910"
}
]
},
{
"ec_number": "2.1.1.356",
"activity": "",
"evidence": [
{
"id": "Q15910",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15910"
}
]
}
]
},
{
"uniprot_ac": "Q54J80",
"gene_name": "",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q54J80",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q54J80"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q54J80",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q54J80"
}
]
}
]
},
{
"uniprot_ac": "Q6PDK2",
"gene_name": "Kmt2d",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q6PDK2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6PDK2"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q6PDK2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6PDK2"
}
]
}
]
},
{
"uniprot_ac": "Q86TU7",
"gene_name": "SETD3",
"activity": [
{
"ec_number": "2.1.1.85",
"activity": "L-histidyl-[protein] + S-adenosyl-L-methionine = H(+) + N(tele)-methyl-L-histidyl-[protein] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q86TU7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q86TU7"
}
]
},
{
"ec_number": "2.1.1.85",
"activity": "",
"evidence": [
{
"id": "Q86TU7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q86TU7"
}
]
}
]
},
{
"uniprot_ac": "Q8BRH4",
"gene_name": "Kmt2c",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q8BRH4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8BRH4"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q8BRH4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8BRH4"
}
]
}
]
},
{
"uniprot_ac": "Q8CFT2",
"gene_name": "Setd1b",
"activity": [
{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q8CFT2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8CFT2"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q8CFT2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8CFT2"
}
]
}
]
},
{
"uniprot_ac": "Q8NEZ4",
"gene_name": "KMT2C",
"activity": [
{
"ec_number": "2.1.1.364",
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{
"id": "Q8NEZ4",
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"url": "https://www.uniprot.org/uniprot/Q8NEZ4"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q8NEZ4",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.1.1.364",
"activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.",
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{
"id": "Q8VHL1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8VHL1"
}
]
},
{
"ec_number": "2.1.1.364",
"activity": "",
"evidence": [
{
"id": "Q8VHL1",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.1.1.364",
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{
"id": "Q8WTS6",
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"url": "https://www.uniprot.org/uniprot/Q8WTS6"
}
]
},
{
"ec_number": "2.1.1.364",
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{
"id": "Q8WTS6",
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}
]
}
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},
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{
"ec_number": "2.3.1.48",
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{
"id": "Q92793",
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}
]
},
{
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}
]
},
{
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}
]
}
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{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q92831",
"database": "UniProtKB",
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}
]
},
{
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{
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]
},
{
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{
"id": "Q92831",
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]
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},
{
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{
"ec_number": "2.1.1.319",
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{
"id": "Q96LA8",
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]
},
{
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{
"id": "Q96LA8",
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]
}
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{
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]
},
{
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"id": "Q99873",
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}
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{
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]
},
{
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]
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]
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