{ "uniprot_canonical_ac": "O95292-1", "uniprot_ac": "O95292", "uniprot_id": "VAPB_HUMAN", "mass": { "chemical_mass": 27228.0, "monoisotopic_mass": 27228.0 }, "refseq": { "ac": "NP_001182606", "name": "vesicle-associated membrane protein-associated protein B/C isoform 2", "summary": "The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606" }, "gene_names": [ { "name": "VAPB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95292", "id": "O95292" }, { "name": "ALS8; VAMP-B; VAP-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606", "id": "NP_001182606" }, { "name": "PRO983", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95292", "id": "O95292" }, { "name": "VAPB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606", "id": "NP_001182606" } ], "protein_names": [ { "name": "Vesicle-associated membrane protein-associated protein B/C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95292" }, { "name": "VAMP-B/VAMP-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95292" }, { "name": "VAMP-associated 33 kDa protein; vesicle-associated membrane protein-associated protein B/C; VAMP (vesicle-associated membrane protein)-associated protein B and C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606", "id": "NP_001182606" }, { "name": "VAMP-associated protein B/C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95292" }, { "name": "VAP-B/VAP-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95292" }, { "name": "vesicle-associated membrane protein-associated protein B/C isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606", "id": "NP_001182606" } ], "function": [ { "annotation": "Alteration of Vesicle-Associated Membrane Protein-Binding Protein B in alpha-Synuclein Aggregates in Lewy Body Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606" }, { "database": "PubMed", "id": "35950959", "url": "https://glygen.org/publication/PubMed/35950959" } ] }, { "annotation": "Endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44 (PubMed:33124732, PubMed:32344433). Interacts with STARD3 in a FFAT motif phosphorylation dependent manner (PubMed:33124732). Via interaction with WDR44 participates in neosynthesized protein export (PubMed:32344433). Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity (PubMed:16891305, PubMed:20940299). Involved in cellular calcium homeostasis regulation (PubMed:22131369).", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292#function" }, { "database": "PubMed", "id": "22131369", "url": "https://glygen.org/publication/PubMed/22131369" }, { "database": "PubMed", "id": "20940299", "url": "https://glygen.org/publication/PubMed/20940299" }, { "database": "PubMed", "id": "16891305", "url": "https://glygen.org/publication/PubMed/16891305" }, { "database": "PubMed", "id": "32344433", "url": "https://glygen.org/publication/PubMed/32344433" }, { "database": "PubMed", "id": "33124732", "url": "https://glygen.org/publication/PubMed/33124732" } ] }, { "annotation": "Neurodegeneration-associated protein VAPB regulates proliferation in medulloblastoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606" }, { "database": "PubMed", "id": "37945695", "url": "https://glygen.org/publication/PubMed/37945695" } ] }, { "annotation": "The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606" } ] }, { "annotation": "Under conditions of proteasomal inhibition, as encountered in many neurodegenerative diseases including ALS, variant VAPB proteins might accumulate in affected cells and contribute to ALS pathogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606" }, { "database": "PubMed", "id": "20227395", "url": "https://glygen.org/publication/PubMed/20227395" } ] }, { "annotation": "Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPB[P56S]. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606" }, { "database": "PubMed", "id": "37509182", "url": "https://glygen.org/publication/PubMed/37509182" } ] } ], "disease": [ { "disease_id": "DOID:0050752", "recommended_name": { "id": "DOID:0050752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050752", "name": "amyotrophic lateral sclerosis type 8", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20." }, "synonyms": [ { "id": "DOID:0050752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050752", "name": "ALS8", "description": "" }, { "id": "DOID:0050752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050752", "name": "amyotrophic lateral sclerosis 8", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis type 8", "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "ALS8", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "VAPB amyotrophic lateral sclerosis", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis 8", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis caused by mutation in VAPB", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis type 8", "description": "" }, { "id": "MIM:608627", "resource": "MIM", "url": "https://www.omim.org/entry/608627", "name": "Amyotrophic lateral sclerosis 8", "description": "Amyotrophic lateral sclerosis 8" } ], "evidence": [ { "id": "608627", "database": "MIM", "url": "https://www.omim.org/entry/608627" } ] }, { "disease_id": "DOID:0111194", "recommended_name": { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant adult-onset proximal spinal muscular atrophy", "description": "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13." }, "synonyms": [ { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "Finkel disease", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "Finkel late-adult type SMA", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "SMAFK", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant adult-onset proximal SMA", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant late-onset spinal muscular atrophy, Finkel type", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant adult proximal spinal muscular atrophy", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "adult-onset proximal spinal muscular atrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "Finkel disease", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "autosomal dominant adult-onset proximal SMA", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "autosomal dominant late-onset spinal muscular atrophy, Finkel type", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "Finkel late-adult type Sma", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "SMAFK", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "autosomal dominant adult-onset proximal spinal muscular atrophy", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "spinal muscular atrophy, late-onset, FINKEL type", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "spinal muscular atrophy, proximal, adult, autosomal dominant", "description": "" }, { "id": "MIM:182980", "resource": "MIM", "url": "https://www.omim.org/entry/182980", "name": "Spinal muscular atrophy, proximal, adult, autosomal dominant", "description": "Spinal muscular atrophy, proximal, adult, autosomal dominant" } ], "evidence": [ { "id": "182980", "database": "MIM", "url": "https://www.omim.org/entry/182980" } ] } ], "snv": [ { "evidence": [ { "id": "O95292", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95292" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 140, "end_pos": 140, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NKI->NKT).", "chr_id": "20", "chr_pos": "58440929", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I140", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs367896794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367896794" }, { "id": "rs367896794", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367896794" }, { "id": "rs367896794", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367896794#frequency_tab" }, { "id": "rs367896794", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367896794" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 144, "end_pos": 144, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "20", "chr_pos": "58440941", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1336955800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336955800" }, { "id": "rs1336955800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336955800" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 146, "end_pos": 146, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "20", "chr_pos": "58440947", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1568719949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568719949" }, { "id": "rs1568719949", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1568719949" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 158, "end_pos": 158, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "20", "chr_pos": "58440983", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757786343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757786343" }, { "id": "rs757786343", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757786343" }, { "id": "rs757786343", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757786343#frequency_tab" }, { "id": "rs757786343", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757786343" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 201, "end_pos": 201, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "20", "chr_pos": "58444104", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs996848558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs996848558" }, { "id": "rs996848558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs996848558" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 201, "end_pos": 201, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "20", "chr_pos": "58444105", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317822478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317822478" }, { "id": "rs1317822478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317822478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 207, "end_pos": 207, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "20", "chr_pos": "58444122", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761901183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761901183" }, { "id": "rs761901183", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761901183" }, { "id": "rs761901183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761901183" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 214, "end_pos": 214, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "20", "chr_pos": "58444143", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1271622919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271622919" }, { "id": "rs1271622919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1271622919#frequency_tab" }, { "id": "rs1271622919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271622919" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 214, "end_pos": 214, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "20", "chr_pos": "58444144", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1456089445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456089445" }, { "id": "rs1456089445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1456089445#frequency_tab" }, { "id": "rs1456089445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1456089445" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "20", "chr_pos": "58418256", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "disease": [ { "disease_id": "DOID:0111194", "recommended_name": { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant adult-onset proximal spinal muscular atrophy", "description": "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13." }, "synonyms": [ { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "Finkel disease", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "Finkel late-adult type SMA", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "SMAFK", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant adult-onset proximal SMA", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant late-onset spinal muscular atrophy, Finkel type", "description": "" }, { "id": "DOID:0111194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111194", "name": "autosomal dominant adult proximal spinal muscular atrophy", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "adult-onset proximal spinal muscular atrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "Finkel disease", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "autosomal dominant adult-onset proximal SMA", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "autosomal dominant late-onset spinal muscular atrophy, Finkel type", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "Finkel late-adult type Sma", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "SMAFK", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "autosomal dominant adult-onset proximal spinal muscular atrophy", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "spinal muscular atrophy, late-onset, FINKEL type", "description": "" }, { "id": "MONDO:0008453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008453", "name": "spinal muscular atrophy, proximal, adult, autosomal dominant", "description": "" }, { "id": "MIM:182980", "resource": "MIM", "url": "https://www.omim.org/entry/182980", "name": "Spinal muscular atrophy, proximal, adult, autosomal dominant", "description": "Spinal muscular atrophy, proximal, adult, autosomal dominant" } ] }, { "disease_id": "DOID:0050752", "recommended_name": { "id": "DOID:0050752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050752", "name": "amyotrophic lateral sclerosis type 8", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20." }, "synonyms": [ { "id": "DOID:0050752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050752", "name": "ALS8", "description": "" }, { "id": "DOID:0050752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050752", "name": "amyotrophic lateral sclerosis 8", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis type 8", "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "ALS8", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "VAPB amyotrophic lateral sclerosis", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis 8", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis caused by mutation in VAPB", "description": "" }, { "id": "MONDO:0012077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012077", "name": "amyotrophic lateral sclerosis type 8", "description": "" }, { "id": "MIM:608627", "resource": "MIM", "url": "https://www.omim.org/entry/608627", "name": "Amyotrophic lateral sclerosis 8", "description": "Amyotrophic lateral sclerosis 8" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1325217602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325217602" }, { "id": "rs1325217602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1325217602#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "20", "chr_pos": "58418255", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 43, "end_pos": 43, "sequence_org": "K", "sequence_mut": "L", "comment": "Does not affect interaction with the conventional FFAT motif of OSBPL1A. Impairs the interactions of the MSP domain with the phosphorylated FFAT motif of STARD3.", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "33124732", "url": "https://glygen.org/publication/PubMed/33124732" } ] }, { "start_pos": 87, "end_pos": 87, "sequence_org": "K", "sequence_mut": "D", "comment": "Prevents binding to the FFAT motif in target proteins; when associated with D-89.", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "29858488", "url": "https://glygen.org/publication/PubMed/29858488" } ] }, { "start_pos": 89, "end_pos": 89, "sequence_org": "M", "sequence_mut": "D", "comment": "Prevents binding to the FFAT motif in target proteins; when associated with D-87.", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "29858488", "url": "https://glygen.org/publication/PubMed/29858488" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Colon", "namespace": 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"84.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124164", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124164" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95292", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95292" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate 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}, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"" }, { "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 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"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 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"DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "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", 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"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", 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"" }, { "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": 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"Protein Classification" ] }, { "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E5RK64", "url": "https://www.uniprot.org/uniprot/E5RK64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK64-1", "url": "https://www.uniprot.org/uniprot/E5RK64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95292-1", "url": "https://www.uniprot.org/uniprot/O95292-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95292-2", "url": "https://www.uniprot.org/uniprot/O95292-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDPNEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSSLDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGKIAL", "length": 243, "header": "sp|O95292-1|VAPB_HUMAN Isoform 1 of Vesicle-associated membrane protein-associated protein B/C OS=Homo sapiens OX=9606 GN=VAPB PE=1 SV=3 CANONICAL=O95292-1" }, "isoforms": [ { "isoform_ac": "E5RK64-1", "url": "", "sequence": { "sequence": "MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSA", "length": 71, "header": "tr|E5RK64-1|E5RK64_HUMAN Computationally mapped isoform of VAMP associated protein B and C OS=Homo sapiens OX=9606 GN=VAPB PE=1 SV=1 CANONICAL=O95292-1" }, "locus": { "chromosome": "20", "start_pos": 58440908, "end_pos": 58389460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520497.1", "url": "https://www.ensembl.org/id/ENST00000520497.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430426.1", "url": "https://www.ensembl.org/id/ENSP00000430426.1" } ] } }, { "isoform_ac": "O95292-1", "url": "", "sequence": { "sequence": "MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDPNEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSSLDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGKIAL", "length": 243, "header": "sp|O95292-1|VAPB_HUMAN Isoform 1 of Vesicle-associated membrane protein-associated protein B/C OS=Homo sapiens OX=9606 GN=VAPB PE=1 SV=3 CANONICAL=O95292-1" }, "locus": { "chromosome": "20", "start_pos": 58444232, "end_pos": 58389460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475243.6", "url": "https://www.ensembl.org/id/ENST00000475243.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000417175.1", "url": "https://www.ensembl.org/id/ENSP00000417175.1" } ] } }, { "isoform_ac": "O95292-2", "url": "", "sequence": { "sequence": "MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSGRRWTADEEDSAEQQPHFSISPNWEGRRP", "length": 99, "header": "sp|O95292-2|VAPB_HUMAN Isoform 2 of Vesicle-associated membrane protein-associated protein B/C OS=Homo sapiens OX=9606 GN=VAPB PE=1 SV=3 CANONICAL=O95292-1" }, "locus": { "chromosome": "20", "start_pos": 58444162, "end_pos": 58389460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395802.7", "url": "https://www.ensembl.org/id/ENST00000395802.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000379147.3", "url": "https://www.ensembl.org/id/ENSP00000379147.3" } ] } } ], "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": 142, "start_aa": "Ser", "end_pos": 142, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser142", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95292" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 143, "start_aa": "Thr", "end_pos": 143, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr143", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95292" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 144, "start_aa": "Thr", "end_pos": 144, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr144", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 146, "start_aa": "Ser", "end_pos": 146, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser146", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 154, "start_aa": "Ser", "end_pos": 154, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser154", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95292" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 201, "start_aa": "Thr", "end_pos": 201, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr201", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95292" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 209, "start_aa": "Ser", "end_pos": 209, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser209", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 214, "start_aa": "Thr", "end_pos": 214, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr214", "evidence": [ { "id": "O95292", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95292" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "phosphorylation": [ { "start_pos": 146, "end_pos": 146, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser146" }, { "start_pos": 150, "end_pos": 150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Thr150" }, { "start_pos": 154, "end_pos": 154, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser154" }, { "start_pos": 156, "end_pos": 156, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser156" }, { "start_pos": 158, "end_pos": 158, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser158" }, { "start_pos": 159, "end_pos": 159, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "phospho.ELM", "id": "O95292", "url": "http://phospho.elm.eu.org/byAccession/O95292.html" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser159" }, { "start_pos": 160, "end_pos": 160, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95292", "url": "https://www.uniprot.org/uniprot/O95292" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95292" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", 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