{
"uniprot_canonical_ac": "O15488-1",
"uniprot_ac": "O15488",
"uniprot_id": "GLYG2_HUMAN",
"mass": {
"chemical_mass": 55184.0,
"monoisotopic_mass": 55184.0
},
"refseq": {
"ac": "NP_001073324",
"name": "glycogenin-2 isoform a",
"summary": "This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324"
},
"gene_names": [
{
"name": "GYG2",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O15488",
"id": "O15488"
},
{
"name": "GN-2; GN2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324",
"id": "NP_001073324"
},
{
"name": "GYG2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324",
"id": "NP_001073324"
}
],
"protein_names": [
{
"name": "Glycogenin-2",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O15488"
},
{
"name": "2.4.1.186",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15488"
},
{
"name": "GN-2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15488"
},
{
"name": "GN2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15488"
},
{
"name": "glycogenin glucosyltransferase",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324",
"id": "NP_001073324"
},
{
"name": "glycogenin-2 isoform a",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324",
"id": "NP_001073324"
}
],
"function": [
{
"annotation": "Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. It self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488#function"
},
{
"database": "PubMed",
"id": "9857012",
"url": "https://glygen.org/publication/PubMed/9857012"
},
{
"database": "PubMed",
"id": "9346895",
"url": "https://glygen.org/publication/PubMed/9346895"
}
]
},
{
"annotation": "Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.",
"evidence": [
{
"database": "UniProtKB",
"id": "E5RIC9",
"url": "https://www.uniprot.org/uniprot/E5RIC9#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037353",
"url": "https://www.uniprot.org/uniprot/ARBA00037353#function"
},
{
"database": "UniProtKB",
"id": "J3QSZ3",
"url": "https://www.uniprot.org/uniprot/J3QSZ3#function"
}
]
},
{
"annotation": "Study demonstrates expression of glycogenin 2 in glycogenin 1-deficient patients, suggesting that glycogenin 2 rescues the formation of glycogen in patients with glycogenin 1 deficiency.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073324",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324"
},
{
"database": "PubMed",
"id": "28453664",
"url": "https://glygen.org/publication/PubMed/28453664"
}
]
},
{
"annotation": "The glucosylation of glycogenin-2 was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073324",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324"
},
{
"database": "PubMed",
"id": "24239874",
"url": "https://glygen.org/publication/PubMed/24239874"
}
]
},
{
"annotation": "This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073324",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324"
}
]
},
{
"annotation": "This is the first evaluation of humans without GN2 expression. Our data indicate that GN2 is not required for liver glycogen synthesis and glucagon-stimulated glucose release.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001073324",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073324"
},
{
"database": "PubMed",
"id": "25751106",
"url": "https://glygen.org/publication/PubMed/25751106"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "rs1194281782",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194281782"
},
{
"id": "rs1194281782",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194281782"
},
{
"id": "rs1194281782",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1194281782#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 227,
"end_pos": 227,
"sequence_org": "M",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTM->NTT).",
"chr_id": "X",
"chr_pos": "2856597",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "M227",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O15488",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15488"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 228,
"end_pos": 228,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "Y",
"sequence_mut": "H",
"comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (Y->H).",
"chr_id": "X",
"chr_pos": "2856599",
"ref_nt": "T",
"alt_nt": "C",
"minor_allelic_frequency": "",
"site_lbl": "Y228",
"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",
"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",
"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",
"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",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"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",
"description": ""
},
{
"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",
"description": ""
},
{
"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",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs1272303385",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272303385"
},
{
"id": "rs1272303385",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1272303385#frequency_tab"
},
{
"id": "rs1272303385",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1272303385"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 23,
"end_pos": 23,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).",
"chr_id": "X",
"chr_pos": "2843057",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P23",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs751069928",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751069928"
},
{
"id": "rs751069928",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751069928"
},
{
"id": "rs751069928",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs751069928"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 346,
"end_pos": 346,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).",
"chr_id": "X",
"chr_pos": "2861627",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P346",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1343202876",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343202876"
},
{
"id": "rs1343202876",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1343202876"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 366,
"end_pos": 366,
"sequence_org": "T",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLS->NLS).",
"chr_id": "X",
"chr_pos": "2861688",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T366",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O15488",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15488"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 83,
"end_pos": 83,
"subjects_tested": "291",
"subjects_positive": "1",
"frequency": "0.3",
"sequence_org": "I",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (ILS->NLS).",
"chr_id": "X",
"chr_pos": "2853985",
"ref_nt": "T",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "I83",
"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"
]
}
],
"mutagenesis": [
{
"start_pos": 228,
"end_pos": 228,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Loss of autoglucosylation.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
},
{
"database": "PubMed",
"id": "9857012",
"url": "https://glygen.org/publication/PubMed/9857012"
}
]
},
{
"start_pos": 230,
"end_pos": 230,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "No loss of activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
},
{
"database": "PubMed",
"id": "9857012",
"url": "https://glygen.org/publication/PubMed/9857012"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "64.09",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "55.43",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "69.18",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "49.96",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "83.27",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "74.76",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "58.25",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "69.7",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "61.57",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "57.49",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
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"score": "80.32",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "75.52",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "83.71",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000056998",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000056998"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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 cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO: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": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": [
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"resource": "Disease Ontology",
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"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",
"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": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"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": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
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"resource": "Disease Ontology",
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"name": "head and neck cancer",
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},
"synonyms": [
{
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"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",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
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"name": "head/neck neoplasm",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": "Yes",
"trend": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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": "O15488",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15488"
}
],
"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",
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{
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]
},
{
"id": "PF01501",
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},
{
"id": "O15488",
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},
{
"id": "PR_O15488",
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},
{
"id": "R-HSA-3322077",
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},
{
"id": "R-HSA-3858516",
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},
{
"id": "R-HSA-3878781",
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},
{
"id": "R-HSA-70221",
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},
{
"id": "NP_001073324",
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"database": "RefSeq",
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]
},
{
"id": "23360",
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},
{
"id": "56560",
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},
{
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},
{
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},
{
"id": "J3QSZ3",
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},
{
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},
{
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},
{
"id": "O15488-1",
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},
{
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},
{
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},
{
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},
{
"id": "O15488-5",
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},
{
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}
],
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"length": 501,
"header": "sp|O15488-1|GLYG2_HUMAN Isoform 1 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
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"length": 137,
"header": "tr|E5RIC9-1|GLYG2_HUMAN Computationally mapped isoform of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=8 CANONICAL=O15488-1"
},
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"id": "ENST00000520904.3",
"url": "https://www.ensembl.org/id/ENST00000520904.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000430764.1",
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}
]
}
},
{
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"length": 244,
"header": "tr|J3QSZ3-1|J3QSZ3_HUMAN Computationally mapped isoform of glycogenin glucosyltransferase OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=1 CANONICAL=O15488-1"
},
"locus": {
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"end_pos": 2855121,
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"id": "ENST00000381157.2",
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},
{
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"id": "ENSP00000370549.2",
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}
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}
},
{
"isoform_ac": "O15488-1",
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"length": 501,
"header": "sp|O15488-1|GLYG2_HUMAN Isoform 1 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
"locus": {
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"start_pos": 2881210,
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"id": "ENST00000381163.7",
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},
{
"database": "Ensembl Peptide",
"id": "ENSP00000370555.3",
"url": "https://www.ensembl.org/id/ENSP00000370555.3"
}
]
}
},
{
"isoform_ac": "O15488-2",
"url": "",
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"sequence": "MSVTDQAFVTLATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVFLDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSAKVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPTQIVDETLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFTETETILQPANKVESVSSEETFEPSQELPAEALRDPSLQDALEVDLAVSVSQISIEEKVKELSPEEERRKWEEGRIDYMGKDAFARIQEKLDRFLQ",
"length": 470,
"header": "sp|O15488-2|GLYG2_HUMAN Isoform 2 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
"locus": {
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"end_pos": 2830189,
"strand": "-",
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"id": "ENST00000398806.8",
"url": "https://www.ensembl.org/id/ENST00000398806.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000381786.3",
"url": "https://www.ensembl.org/id/ENSP00000381786.3"
}
]
}
},
{
"isoform_ac": "O15488-3",
"url": "",
"sequence": {
"sequence": "MSATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVFLDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSAKVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPTQIVDETLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFTETETILQPANKVESVSSEETFEPSQELPAEALRDPSLQDALEVDLAVSVSQISIEEKVKELSPEEERRKWEEGRIDYMGKDAFARIQEKLDRFLQ",
"length": 461,
"header": "sp|O15488-3|GLYG2_HUMAN Isoform 3 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
"locus": {}
},
{
"isoform_ac": "O15488-4",
"url": "",
"sequence": {
"sequence": "MSETEFHHGAQAGLELLRSSNSPTSASQSAGMTVTDQAFVTLATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVFLDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSAKVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPTQIVDETLSLPEGRRSEDVDLAVSVSQISIEEKVKELSPEEERRKWEEGRIDYMGKDAFARIQEKLDRFLQ",
"length": 430,
"header": "sp|O15488-4|GLYG2_HUMAN Isoform 4 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
"locus": {
"chromosome": "X",
"start_pos": 2881210,
"end_pos": 2830189,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000353656.10",
"url": "https://www.ensembl.org/id/ENST00000353656.10"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000487294.1",
"url": "https://www.ensembl.org/id/ENSP00000487294.1"
}
]
}
},
{
"isoform_ac": "O15488-5",
"url": "",
"sequence": {
"sequence": "MSETEFHHGAQAGLELLRSSNSPTSASQSAGMTVTDQAFVTLATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVFLDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSAKVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPTQIVDETLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFT",
"length": 406,
"header": "sp|O15488-5|GLYG2_HUMAN Isoform 5 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
"locus": {}
},
{
"isoform_ac": "O15488-6",
"url": "",
"sequence": {
"sequence": "MSETEFHHGAQAGLELLRSSNSPTSASQSAGMTVTDQAFVTLATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVFLDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSAKVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPTQIVDETLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFTETETILVDLAVSVSQISIEEKVKELSPEEERRKWEEGRIDYMGKDAFARIQEKLDRFLQ",
"length": 465,
"header": "sp|O15488-6|GLYG2_HUMAN Isoform 6 of Glycogenin-2 OS=Homo sapiens OX=9606 GN=GYG2 PE=1 SV=2 CANONICAL=O15488-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "O-linked",
"subtype": "O-glucosylation",
"site_category": "reported",
"site_seq": "Y",
"relation": "attached",
"comment": "O-linked (Glc...) tyrosine O-glucosylation",
"start_pos": 228,
"start_aa": "Tyr",
"end_pos": 228,
"end_aa": "Tyr",
"residue": "Tyr",
"site_lbl": "Tyr228",
"evidence": [
{
"id": "O15488",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15488#ptm_processing"
},
{
"id": "9857012",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/9857012"
}
]
}
],
"phosphorylation": [
{
"start_pos": 368,
"end_pos": 368,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
},
{
"database": "PubMed",
"id": "24275569",
"url": "https://glygen.org/publication/PubMed/24275569"
},
{
"database": "iPTMnet",
"id": "O15488",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15488"
}
],
"site_lbl": "Ser368"
},
{
"start_pos": 399,
"end_pos": 399,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
},
{
"database": "PubMed",
"id": "24275569",
"url": "https://glygen.org/publication/PubMed/24275569"
},
{
"database": "iPTMnet",
"id": "O15488",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15488"
}
],
"site_lbl": "Ser399"
},
{
"start_pos": 459,
"end_pos": 459,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
},
{
"database": "PubMed",
"id": "24275569",
"url": "https://glygen.org/publication/PubMed/24275569"
},
{
"database": "iPTMnet",
"id": "O15488",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15488"
}
],
"site_lbl": "Ser459"
}
],
"glycation": [],
"keywords": [
"enzyme",
"glycosyltransferase-activity",
"glycoprotein",
"glycoprotein_reported"
],
"publication": [
{
"title": "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.",
"journal": "Frontiers in bioscience : a journal and virtual library",
"date": "1999",
"authors": "Brushia RJ, Walsh DA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70221",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221"
}
],
"reference": [
{
"type": "PubMed",
"id": "10487978",
"url": "https://glygen.org/publication/PubMed/10487978"
}
]
},
{
"title": "Structure and chromosomal localization of the human glycogenin-2 gene GYG2.",
"journal": "Gene",
"date": "2000",
"authors": "Zhai L, Mu J, Zong H, DePaoli-Roach A A, Roach P J",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"reference": [
{
"type": "PubMed",
"id": "10721716",
"url": "https://glygen.org/publication/PubMed/10721716"
}
]
},
{
"title": "Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core.",
"journal": "Molecular cell",
"date": "2000",
"authors": "Rath VL, Ammirati M, LeMotte PK, Fennell KF, Mansour MN, Danley DE, Hynes TR, Schulte GK, Wasilko DJ, Pandit J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70221",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221"
}
],
"reference": [
{
"type": "PubMed",
"id": "10949035",
"url": "https://glygen.org/publication/PubMed/10949035"
}
]
},
{
"title": "Cluster analysis of an extensive human breast cancer cell line protein expression map database.",
"journal": "Proteomics",
"date": "2002",
"authors": "Harris RA, Yang A, Stein RC, Lucy K, Brusten L, Herath A, Parekh R, Waterfield MD, O'Hare MJ, Neville MA, Page MJ, Zvelebil MJ",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"reference": [
{
"type": "PubMed",
"id": "11840567",
"url": "https://glygen.org/publication/PubMed/11840567"
}
]
},
{
"title": "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.",
"journal": "European journal of human genetics : EJHG",
"date": "2003",
"authors": "Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70221",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221"
}
],
"reference": [
{
"type": "PubMed",
"id": "12825073",
"url": "https://glygen.org/publication/PubMed/12825073"
}
]
},
{
"title": "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.",
"journal": "Pediatric research",
"date": "2003",
"authors": "Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70221",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221"
}
],
"reference": [
{
"type": "PubMed",
"id": "12930917",
"url": "https://glygen.org/publication/PubMed/12930917"
}
]
},
{
"title": "Enzymic conversion of phosphorylase a to phosphorylase b.",
"journal": "Biochimica et biophysica acta",
"date": "1953",
"authors": "KELLER PJ, CORI GT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70221",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221"
}
],
"reference": [
{
"type": "PubMed",
"id": "13115432",
"url": "https://glygen.org/publication/PubMed/13115432"
}
]
},
{
"title": "Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).",
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"id": "9346895",
"url": "https://glygen.org/publication/PubMed/9346895"
}
]
},
{
"title": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.",
"journal": "The Journal of clinical investigation",
"date": "1998",
"authors": "Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-3322077",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077"
}
],
"reference": [
{
"type": "PubMed",
"id": "9691087",
"url": "https://glygen.org/publication/PubMed/9691087"
}
]
},
{
"title": "Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Mu J, Roach PJ",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488#ptm_processing"
},
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"reference": [
{
"type": "PubMed",
"id": "9857012",
"url": "https://glygen.org/publication/PubMed/9857012"
}
]
}
],
"pathway": [
{
"id": "hsa:8908",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8908",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-3322077",
"name": "Glycogen synthesis",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322077",
"resource": "Reactome",
"description": "Glycogen synthesis"
},
{
"id": "R-HSA-3858516",
"name": "Glycogen storage disease type 0 (liver GYS2)",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3858516",
"resource": "Reactome",
"description": "Glycogen storage disease type 0 (liver GYS2)"
},
{
"id": "R-HSA-3878781",
"name": "Glycogen storage disease type IV (GBE1)",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3878781",
"resource": "Reactome",
"description": "Glycogen storage disease type IV (GBE1)"
},
{
"id": "R-HSA-70221",
"name": "Glycogen breakdown (glycogenolysis)",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221",
"resource": "Reactome",
"description": "Glycogen breakdown (glycogenolysis)"
}
],
"orthologs": [],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "glycogenin glucosyltransferase activity",
"id": "GO:0008466",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008466",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
},
{
"name": "UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity",
"id": "GO:0102751",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102751",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
},
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
},
{
"name": "glycosyltransferase activity",
"id": "GO:0016757",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
},
{
"name": "UDP-glycosyltransferase activity",
"id": "GO:0008194",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 2,
"go_terms": [
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 1,
"go_terms": [
{
"name": "glycogen biosynthetic process",
"id": "GO:0005978",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 206,
"end_pos": 208,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 221,
"end_pos": 223,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 333,
"end_pos": 335,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15488",
"url": "https://www.uniprot.org/uniprot/O15488"
},
{
"database": "PubMed",
"id": "9857012",
"url": "https://glygen.org/publication/PubMed/9857012"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "23360",
"name": "",
"equation": "L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = alpha-D-glucosyl-L-tyrosyl-[glycogenin] + H(+) + UDP",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O08730-1",
"O15488-1",
"P46976-1",
"Q9R062-1",
"P47011-1",
"P36143-1",
"A0A0B4LFW5-1"
],
"evidence": [
{
"id": "23360",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/23360"
}
]
},
{
"id": "56560",
"name": "",
"equation": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O08730-1",
"O15488-1",
"P46976-1",
"Q9R062-1",
"P47011-1",
"P36143-1",
"A0A0B4LFW5-1"
],
"evidence": [
{
"id": "56560",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/56560"
}
]
},
{
"id": "R-HSA-3322009",
"name": "GYS2 catalyzes the polyglucosylation of oligoGlc-GYG2",
"equation": "",
"summary": "Unphosphorylated glycogen synthase 2 (GYS2-a) complexed with oligo-D-glucose-GYG2 catalyzes the polyglucosylation of the latter. (Here the addition of four glucose residues is annotated.) (Orho et al. 1998; Roach et al. 2012).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3322009",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322009"
}
]
},
{
"id": "R-HSA-3322014",
"name": "Autoglucosylation of GYG2 complexed with GYS2-a",
"equation": "",
"summary": "Glycogenin 2 (GYG2) catalyzes its autoglycosylation reaction with UDP-glucose to form oligo (1,4)-alpha-D-glucosyl GYG2 (Mu et al. 1997). The oligosaccharide is annotated here as containing four glucose residues. Glycogenin occurs as a homodimer complexed with two molecules of glycogen synthase 1 (GYS2), here in a unphosphorylated (a) form (Roach et al. 2012).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3322014",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322014"
}
]
},
{
"id": "R-HSA-3322016",
"name": "GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a",
"equation": "",
"summary": "Cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules formed on glycogenin 2 (GYG2) complexed with unphosphorylated glycogen synthase 2 (GYS2-a) (Bao et al. 1996; Roach et al. 2012).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"Q04446-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3322016",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322016"
}
]
},
{
"id": "R-HSA-3322019",
"name": "Autoglucosylation of GYG2 complexed with GYS2-b",
"equation": "",
"summary": "Glycogenin 2 (GYG2) catalyzes its autoglycosylation reaction with UDP-glucose to form oligo (1,4)-alpha-D-glucosyl GYG2 (Mu et al. 1997). The oligosaccharide is annotated here as containing four glucose residues. Glycogenin occurs as a homodimer complexed with two molecules of glycogen synthase 1 (GYS2), here in a phosphorylated (b) form (Roach et al. 2012).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3322019",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3322019"
}
]
},
{
"id": "R-HSA-3780994",
"name": "GYS2 catalyzes the incorporation of phosphoglucose into glycogen-GYG2",
"equation": "",
"summary": "Glycogen synthase 2 (GYS2) catalyzes the incorporation of phosphoglucose into the glycogen-GYG1 molecules with which it is associated in a cytosolic glycogen granule. This reaction occurs at a low rate, yielding approximately one molecule of glucose phosphorylated at its C2, C3, or C6 positions incorporated into a growing glycogen polymer per ten thousand glucose molecules incorporated (DePaoli-Roach et al. 2015; Irimia et al. 2015; Nitschke et al. 2013; Tagliabracci et al. 2011). The function of these small amounts of phosphoglucose in normal glycogen remains to be established. This reaction has been characterized in muscle cells, where it is catalyzed by the homologous GYS1 enzyme. The occurrence of the reaction in liver, catalyzed by GYS2, can be inferred from the fact that in the absence of the enzyme EMP2A (laforin) that removes these phosphate groups, abnormally phosphorylated glycogen accumulates in both tissues (Worby et al. 2008).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3780994",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780994"
}
]
},
{
"id": "R-HSA-3780995",
"name": "NHLRC1 mediated ubiquitination of EPM2A (laforin) and PPP1RC3 (PTG) associated with glycogen-GYG2",
"equation": "",
"summary": "NHLRC1 (malin) associates with the glycogen particle where it functions as a ubiquitin E3 ligase to mediate the polyubiquitination of EPM2A (laforin) and PPP1R3C (protein phosphatase 1 regulatory subunit 3C, PTG). The two polyubiquitinated proteins are targeted for proteasome-mediated degradation, leaving a glycogen-GYG2 particle associated with glycogen synthase 2 GYS2 (Gentry et al. 2005, Worby et al. 2008). In NHLRC1 knockout mice, PPP1R3C levels are unchanged, rather than increased, suggesting that NHLRC1 does not target PPP1R3C for degradation. However, EPM2A protein levels are increased in this knockout consistent with NHLRC1's proposed role. (DePaoli-Roach et al. 2010). This process is inferred from studies of muscle glycogen and from the fact that defects in either EPM2A or NHLRC1 lead to formation of similar aberrant glycogen particles in both tissues.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"B3EWF7-1",
"Q6VVB1-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3780995",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780995"
}
]
},
{
"id": "R-HSA-3780997",
"name": "PPP1R3C binds to glycogen:GYG2:GYS2",
"equation": "",
"summary": "Protein phosphatase 1 regulatory subunit 3C (PPP1R3C, PTG) binds to glycogen particles containing GYG2 (glycogenin 2) and GYS2 (glycogen synthase 2). PPP1R3C appears to function as a scaffolding protein to mediate association of other proteins with glycogen granules and to promote the synthesis of glycogen (Worby et al. 2008). This reaction, involving GYG and GYS isoforms largely expressed in the liver has not been studied in detail but is inferred from the better-characterized one involving GYG1- and GYS1-containing glycogen particles (\\muscle\\ isoforms, widely expressed in the body outside the liver).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3780997",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780997"
}
]
},
{
"id": "R-HSA-3781011",
"name": "EPM2A dimer dephosphorylates phosphoglycogen-GYG2",
"equation": "",
"summary": "EPM2A (laforin), associated with PPP1R3C (protein phosphatase 1 regulatory subunit 3C, PTG) and phosphoglycogen-GYG2 in a cytosolic glycogen particle, catalyzes the dephosphorylation of phosphoglycogen (Tagliabracci et al. 2007). This reaction is inferred from the activity of EPM2A on phosphoglycogen-GYG1, and from the fact that in the absence of normal EPM2A activity, abnormally phosphorylated forms of both glycogen-GYG1 and glycogen-GYG2 accumulate in cells. The catalytically active form of EPM2A has been shown to be a homodimer (Raththagala et al. 2015; Sankhala et al. 2015).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"B3EWF7-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3781011",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781011"
}
]
},
{
"id": "R-HSA-3781021",
"name": "EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG2 complex",
"equation": "",
"summary": "EPM2A (laforin) dimer binds to the PPP1R3C:phosphoglycogen-GYG2 (glycogenin 2) complex, probably through interactions with the PPP1R3C (PTG) and glycogen moieties of the complex (Worby et al. 2008). This reaction is inferred from the properties of the better studied muscle glycogen particles containing GYG1 (glycogenin 1), and from the fact that in the absence of EMP2A (laforin) function, liver glycogen particles become abnormal in the same way as do muscle particles.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"B3EWF7-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3781021",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781021"
}
]
},
{
"id": "R-HSA-3858506",
"name": "Defective GYS2 does not transfer glucose to growing glycogen chains",
"equation": "",
"summary": "Glycogen synthase 2 (GYS2) normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. GYS2 is expressed in the liver and its deficiency is most prominently associated with fasting hypoglycemia (Gitzelmann et al. 1996). Seven human GYS2 mutations have been described, one frameshift and six missense mutations (Orho et al. 1998), Two of the missense mutations are annotated here.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3858506",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3858506"
}
]
},
{
"id": "R-HSA-3878762",
"name": "Defective GBE1 does not catalyze branch formation in growing glycogen chains (liver)",
"equation": "",
"summary": "Normally, cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules of both liver and muscle types. In the absence of GBE1 activity, abnormal amylopectin-like glycogen with longer alpha(1,4) chains and fewer branch points forms in all tissues where glycogen is normally found. Presentation of the disease is clinically heterogeneous. The two missense mutant alleles annotated here, associated with near-complete loss of GBE1 activity, lead to progressive liver disease.A nonsense mutant allele R524X and a large internal deletion are also associated with this presentation, while a L224P missense mutation is associated with partial reduction of enzyme activity and nonprogressive liver disease (Bao et al. 1996) and other missense and nonsense mutations (e.g., H243R, R637X) are associated with absent enzyme activity and a neuromuscular disease presentation (Bruno et al. 2004). GBE1 deficiency is thus well-established as the molecular basis of GSD IV, but the basis of its variable presentation in children with little or no enzyme activity remains unclear.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"Q04446-1",
"P54840-1"
],
"evidence": [
{
"id": "R-HSA-3878762",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3878762"
}
]
},
{
"id": "R-HSA-453339",
"name": "poly((1,4)-alpha-glucosyl) glycogenin-2 + n orthophosphate => glycogenin-2 + n D-glucose 1-phosphate [PYGL]",
"equation": "",
"summary": "The phosphorylated PYGL dimer (a form) of glycogen phosphorylase catalyzes the reaction of orthophosphate and poly((1,4)-alpha-glucosyl) glycogenin-2 to form D-glucose 1-phosphate and glycogenin-2. This reaction occurs on the surfaces of cytosolic glycogen granules. Non-phosphorylated PYGL dimers (b form) are catalytically inactive even in the presence of AMP. In the body, this reaction takes place in the liver where its dependence on hormonally stimulated PYGL phosphorylation (and lack of sensitivity to AMP) allow glucose mobilization in response to a demand for glucose from the rest of the body (Newgard et al. 1989; Rath et al. 2000).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P06737-1"
],
"evidence": [
{
"id": "R-HSA-453339",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-453339"
}
]
},
{
"id": "R-HSA-71552",
"name": "limit dextrin-glycogenin => ((1,6)-alpha-glucosyl)poly((1,4)-alpha-glucosyl) glycogenin",
"equation": "",
"summary": "Cytosolic debranching enzyme associated with glycogen granules transfers 3-glucose blocks from branches to the main linear polyglucose chain of limit dextrin formed on glycogenin 1 or glycogenin 2 (Chen et al. 1988; Shen et al. 1996).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P46976-1"
],
"evidence": [
{
"id": "R-HSA-71552",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71552"
}
]
},
{
"id": "R-HSA-71590",
"name": "glycogen-glycogenin-2 + n orthophosphate => limit dextrin-glycogenin-2 + n D-glucose 1-phosphate [PYGL]",
"equation": "",
"summary": "The phosphorylated PYGL dimer (a form) of glycogen phosphorylase catalyzes the reaction of orthophosphate and glycogen-glycogenin 1 to form D-glucose 1-phosphate and limit dextrin-glycogenin 1. This reaction occurs on the surfaces of cytosolic glycogen granules. Non-phosphorylated PYGL dimers (b form) are catalytically inactive even in the presence of AMP. In the body, this reaction takes place in the liver where its dependence on hormonally stimulated PYGL phosphorylation (and lack of sensitivity to AMP) allow glucose mobilization in response to a demand for glucose from the rest of the body (Newgard et al. 1989; Rath et al. 2000).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P06737-1"
],
"evidence": [
{
"id": "R-HSA-71590",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71590"
}
]
},
{
"id": "R-HSA-71593",
"name": "((1,6)-alpha-glucosyl)poly((1,4)-alpha-glucosyl)glycogenin => poly{(1,4)-alpha-glucosyl} glycogenin + alpha-D-glucose",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '{(1,6)-alpha-glucosyl}poly{(1,4)-alpha-glucosyl}glycogenin-2' is present. At the end of this reaction, 1 molecule of 'alpha-D-glucose', and 1 molecule of 'poly{(1,4)-alpha-glucosyl}glycogenin-2' are present.
This reaction takes place in the 'cytoplasm' and is mediated by the 'amylo-alpha-1,6-glucosidase activity' of 'glycogen debranching enzyme'.
",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15488-1",
"P46976-1"
],
"evidence": [
{
"id": "R-HSA-71593",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71593"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "A0A0B4LFW5",
"gene_name": "Gyg",
"activity": [
{
"ec_number": "2.4.1.186",
"activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.",
"evidence": [
{
"id": "A0A0B4LFW5",
"database": "UniProtKB",
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