{ "uniprot_canonical_ac": "A8K7I4-1", "uniprot_ac": "A8K7I4", "uniprot_id": "CLCA1_HUMAN", "mass": { "chemical_mass": 100226.0, "monoisotopic_mass": 100226.0 }, "refseq": { "ac": "NP_001276", "name": "calcium-activated chloride channel regulator 1 precursor", "summary": "This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, "gene_names": [ { "name": "CLCA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8K7I4", "id": "A8K7I4" }, { "name": "CACC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8K7I4", "id": "A8K7I4" }, { "name": "CACC; CaCC-1; CACC1; CLCRG1; GOB5; hCaCC-1; hCLCA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276", "id": "NP_001276" }, { "name": "CLCA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276", "id": "NP_001276" } ], "protein_names": [ { "name": "Calcium-activated chloride channel regulator 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8K7I4" }, { "name": "3.4.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K7I4" }, { "name": "CaCC-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K7I4" }, { "name": "Calcium-activated chloride channel family member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K7I4" }, { "name": "Calcium-activated chloride channel protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K7I4" }, { "name": "calcium-activated chloride channel regulator 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276", "id": "NP_001276" }, { "name": "chloride channel regulator 1; CLCA family member 1, chloride channel regulator; chloride channel, calcium activated, family member 1; calcium-activated chloride channel regulator 1; calcium-dependent chloride channel-1; calcium-activated chloride channel protein 1; calcium-activated chloride channel family member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276", "id": "NP_001276" }, { "name": "hCLCA1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K7I4" }, { "name": "hCaCC-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K7I4" } ], "function": [ { "annotation": "CLCA1 suppresses colorectal cancer aggressiveness via inhibition of the Wnt/beta-catenin signaling pathway Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, { "database": "PubMed", "id": "28974231", "url": "https://glygen.org/publication/PubMed/28974231" } ] }, { "annotation": "Increase in TMEM16A activity occurred within minutes of exposure to CLCA1 or after a short treatment with nocodazole, consistent with the hypothesis that CLCA1 stabilizes TMEM16A at the cell surface by preventing its internalization.", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, { "database": "PubMed", "id": "28420732", "url": "https://glygen.org/publication/PubMed/28420732" } ] }, { "annotation": "May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC.", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4#function" }, { "database": "PubMed", "id": "9828122", "url": "https://glygen.org/publication/PubMed/9828122" }, { "database": "PubMed", "id": "11956057", "url": "https://glygen.org/publication/PubMed/11956057" }, { "database": "PubMed", "id": "11842292", "url": "https://glygen.org/publication/PubMed/11842292" }, { "database": "PubMed", "id": "11445004", "url": "https://glygen.org/publication/PubMed/11445004" }, { "database": "PubMed", "id": "23112050", "url": "https://glygen.org/publication/PubMed/23112050" } ] }, { "annotation": "Results suggest that CLCA1 is involved in intestinal mucus homeostasis by facilitating processing and removal of mucus to prevent stagnation.", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, { "database": "PubMed", "id": "29885864", "url": "https://glygen.org/publication/PubMed/29885864" } ] }, { "annotation": "SDR16C5 and SDR16C6 enzymes are not critical for survival but are responsible for most of the retinol dehydrogenase activity in skin, essential for the regulation of the hair-follicle cycle, and required for the maintenance of both sebaceous and meibomian glands", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, { "database": "PubMed", "id": "31570526", "url": "https://glygen.org/publication/PubMed/31570526" } ] }, { "annotation": "Structural and Biophysical Analysis of the CLCA1 VWA Domain Suggests Mode of TMEM16A Engagement.", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, { "database": "PubMed", "id": "31995732", "url": "https://glygen.org/publication/PubMed/31995732" } ] }, { "annotation": "This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" } ] }, { "annotation": "Upregulation in the IL-9- responsive mucus-producing epithelium of asthmatic subjects supports the hypothesis that this channel may be responsible, in part, for the overproduction of mucus in asthmatic subjects", "evidence": [ { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" }, { "database": "PubMed", "id": "11842292", "url": "https://glygen.org/publication/PubMed/11842292" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs751061300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751061300" }, { "id": "rs751061300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751061300" }, { "id": "rs751061300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751061300" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 21, "end_pos": 21, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "1", "chr_pos": "86469033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1483882441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483882441" }, { "id": "rs1483882441", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483882441#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 30, "end_pos": 30, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNN->NNS).", "chr_id": "1", "chr_pos": "86469060", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780514083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780514083" }, { "id": "rs780514083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780514083" }, { "id": "rs780514083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780514083" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 31, "end_pos": 31, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "1", "chr_pos": "86469062", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780428205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780428205" }, { "id": "rs780428205", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780428205" }, { "id": "rs780428205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780428205" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 44, "end_pos": 44, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "1", "chr_pos": "86469101", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768654684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768654684" }, { "id": "rs768654684", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768654684" }, { "id": "rs768654684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768654684" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 565, "end_pos": 565, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "1", "chr_pos": "86494201", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs968823430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968823430" }, { "id": "rs968823430", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs968823430#frequency_tab" }, { "id": "rs968823430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs968823430" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 574, "end_pos": 574, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).", "chr_id": "1", "chr_pos": "86494227", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376985536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376985536" }, { "id": "rs376985536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376985536" }, { "id": "rs376985536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376985536" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 585, "end_pos": 585, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "1", "chr_pos": "86494260", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N585", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs910387776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910387776" }, { "id": "rs910387776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs910387776" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 587, "end_pos": 587, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAA).", "chr_id": "1", "chr_pos": "86494265", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs267598745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267598745" }, { "id": "rs267598745", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267598745" }, { "id": "22842228", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22842228" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 587, "end_pos": 587, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAI).", "chr_id": "1", "chr_pos": "86494266", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T587", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs910387776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910387776" }, { "id": "rs910387776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs910387776" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 587, "end_pos": 587, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAP).", "chr_id": "1", "chr_pos": "86494265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375828178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375828178" }, { "id": "rs375828178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375828178" }, { "id": "rs375828178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375828178#frequency_tab" }, { "id": "rs375828178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375828178" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 5, "end_pos": 5, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "1", "chr_pos": "86468986", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752629168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752629168" }, { "id": "rs752629168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752629168" }, { "id": "rs752629168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752629168" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 625, "end_pos": 625, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "1", "chr_pos": "86494380", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A8K7I4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A8K7I4" }, { "id": "rs1031238318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1031238318" }, { "id": "rs1031238318", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1031238318" }, { "id": "rs1031238318", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1031238318#frequency_tab" }, { "id": "rs1031238318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1031238318" }, { "id": "22810696", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22810696" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 647, "end_pos": 647, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "1", "chr_pos": "86494445", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A647", "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": "" } ] }, { "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": 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"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 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "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", 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"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": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "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 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "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 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"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 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"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": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "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": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A8K7I4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K7I4" } ], "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": 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chloride channel regulator 1 OS=Homo sapiens OX=9606 GN=CLCA1 PE=1 SV=3 CANONICAL=A8K7I4-1" }, "isoforms": [ { "isoform_ac": "A8K7I4-1", "url": "", "sequence": { "sequence": "MGPFKSSVFILILHLLEGALSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAILIPETWKTKADYVRPKLETYKNADVLVAESTPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKKCQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFAQHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMTTQPPNPTFSLLQIGQRIVCLVLDKSGSMATGNRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAASGGTSICSGLRSAFTVIRKKYPTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLIDAFGALSSGNGAVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIAKVGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTLELLDNGAGADATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDDVQHKQVCFSRTSSGGSFVASDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLRDKFNESLQVNTTALIPKEANSEEVFLFKPENITFENGTDLFIAIQAVDKVDLKSEISNIARVSLFIPPQTPPETPSPDETSAPCPNIHINSTIPGIHILKIMWKWIGELQLSIA", "length": 914, "header": "sp|A8K7I4-1|CLCA1_HUMAN Isoform 1 of Calcium-activated chloride channel regulator 1 OS=Homo sapiens OX=9606 GN=CLCA1 PE=1 SV=3 CANONICAL=A8K7I4-1" }, "locus": { "chromosome": "1", "start_pos": 86500042, "end_pos": 86468972, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000234701.7", "url": "https://www.ensembl.org/id/ENST00000234701.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000234701.3", "url": "https://www.ensembl.org/id/ENSP00000234701.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 503, "start_aa": "Asn", "end_pos": 503, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn503", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 585, "start_aa": "Asn", "end_pos": 585, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn585", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 770, "start_aa": "Asn", "end_pos": 770, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn770", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 804, "start_aa": "Asn", "end_pos": 804, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn804", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 810, "start_aa": "Asn", "end_pos": 810, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn810", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 831, "start_aa": "Asn", "end_pos": 831, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn831", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 836, "start_aa": "Asn", "end_pos": 836, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn836", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 890, "start_aa": "Asn", "end_pos": 890, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn890", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of three novel members of the calcium-dependent chloride channel (CaCC) family predominantly expressed in the digestive tract and trachea.", "journal": "FEBS Lett.", "date": "1999", "authors": "Agnel M, Vermat T, Culouscou JM", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "reference": [ { "type": "PubMed", "id": "10437792", "url": "https://glygen.org/publication/PubMed/10437792" } ] }, { "title": "Identification of an acid-activated Cl(-) channel from human skeletal muscles.", "journal": "The American journal of physiology", "date": "1999", "authors": "Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10564087", "url": "https://glygen.org/publication/PubMed/10564087" } ] }, { "title": "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits.", "journal": "The Biochemical journal", "date": "2000", "authors": "Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10642508", "url": "https://glygen.org/publication/PubMed/10642508" } ] }, { "title": "Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination.", "journal": "Kidney international", "date": "2000", "authors": "Staub O, Abriel H, Plant P, Ishikawa T, Kanelis V, Saleki R, Horisberger JD, Schild L, Rotin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10720933", "url": "https://glygen.org/publication/PubMed/10720933" } ] }, { "title": "Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine.", "journal": "FEBS letters", "date": "2000", "authors": "Schaefer L, Sakai H, Mattei M, Lazdunski M, Lingueglia E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10767424", "url": "https://glygen.org/publication/PubMed/10767424" } ] }, { "title": "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts.", "journal": "Cell", "date": "2000", "authors": "Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10830164", "url": "https://glygen.org/publication/PubMed/10830164" } ] }, { "title": "Functional and structural analysis of ClC-K chloride channels involved in renal disease.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Waldegger S, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10831588", "url": "https://glygen.org/publication/PubMed/10831588" } ] }, { "title": "Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.", "journal": "Neuron", "date": "2001", "authors": "Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, Bosl MR, Ruether K, Jahn H, Draguhn A, Jahn R, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11182090", "url": "https://glygen.org/publication/PubMed/11182090" } ] }, { "title": "Expression of the Ca2+-activated chloride channel genes CLCA1 and CLCA2 is downregulated in human colorectal cancer.", "journal": "DNA and cell biology", "date": "2001-06", "authors": "Bustin S A, Li S R, Dorudi S", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "reference": [ { "type": "PubMed", "id": "11445004", "url": "https://glygen.org/publication/PubMed/11445004" } ] }, { "title": "Nonsteroid anti-inflammatory drugs inhibit both the activity and the inflammation-induced expression of acid-sensing ion channels in nociceptors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2001", "authors": "Voilley N, de Weille J, Mamet J, Lazdunski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11588175", "url": "https://glygen.org/publication/PubMed/11588175" } ] }, { "title": "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.", "journal": "Nature genetics", "date": "2001", "authors": "Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11687798", "url": "https://glygen.org/publication/PubMed/11687798" } ] }, { "title": "Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.", "journal": "Nature", "date": "2001", "authors": "Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11734858", "url": "https://glygen.org/publication/PubMed/11734858" } ] }, { "title": "A calcium-activated chloride channel (HCLCA1) is strongly related to IL-9 expression and mucus production in bronchial epithelium of patients with asthma.", "journal": "The Journal of allergy and clinical immunology", "date": "2002", "authors": "Toda M, Tulic MK, Levitt RC, Hamid Q", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" }, { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" }, { "database": "RefSeq", "id": "NP_001276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276" } ], "reference": [ { "type": "PubMed", "id": "11842292", "url": "https://glygen.org/publication/PubMed/11842292" } ] }, { "title": "The vitelliform macular dystrophy protein defines a new family of chloride channels.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Sun H, Tsunenari T, Yau KW, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11904445", "url": "https://glygen.org/publication/PubMed/11904445" } ] }, { "title": "Increased expression of the human Ca2+-activated Cl- channel 1 (CaCC1) gene in the asthmatic airway.", "journal": "American journal of respiratory and critical care medicine", "date": "2002", "authors": "Hoshino M, Morita S, Iwashita H, Sagiya Y, Nagi T, Nakanishi A, Ashida Y, Nishimura O, Fujisawa Y, Fujino M", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" }, { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11956057", "url": "https://glygen.org/publication/PubMed/11956057" } ] }, { "title": "Amiloride-blockable acid-sensing ion channels are leading acid sensors expressed in human nociceptors.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Ugawa S, Ueda T, Ishida Y, Nishigaki M, Shibata Y, Shimada S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "12393854", "url": "https://glygen.org/publication/PubMed/12393854" } ] }, { "title": "Structure-function analysis of the bestrophin family of anion channels.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "12907679", "url": "https://glygen.org/publication/PubMed/12907679" } ] }, { "title": "The skeletal muscle chloride channel in dominant and recessive human myotonia.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "1379744", "url": "https://glygen.org/publication/PubMed/1379744" } ] }, { "title": "Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2003", "authors": "Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "14584882", "url": "https://glygen.org/publication/PubMed/14584882" } ] }, { "title": "A new sperm-specific Na+/H+ exchanger required for sperm motility and fertility.", "journal": "Nature cell biology", "date": "2003", "authors": "Wang D, King SM, Quill TA, Doolittle LK, Garbers DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "14634667", "url": "https://glygen.org/publication/PubMed/14634667" } ] }, { "title": "A novel human Cl(-) channel family related to Drosophila flightless locus.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Suzuki M, Mizuno A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": 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"database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "reference": [ { "type": "PubMed", "id": "9828122", "url": "https://glygen.org/publication/PubMed/9828122" } ] } ], "pathway": [ { "id": "hsa:1179", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1179", "resource": "KEGG Pathway" }, { "id": "R-HSA-2672351", "name": "Stimuli-sensing channels", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351", "resource": "Reactome", "description": "Stimuli-sensing channels" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JWX9-1", "protein_name": "Calcium-activated chloride channel regulator 1", "gene_name": "Clca1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSLKSPVFLLVLYLLEGVLSNSLIQLNNNGYEGIVIAIDHDVPEDEALIQRIKDMVTQASPYLFEATGKRFYFKNVAILIPENWNTKPEYKRPKLETLKNADVLVSTMSPIGNDEPYTEHIGACGERGIRIHLTPDFLAGKKQTEYGPQDRTFVHEWAHFRWGVFDEYNNNEKFYLSNGKPQAVRCSATITGKHVVRRCQGGSCVTNGKCVIDRVTGLYKDNCVFIPDKNQREKASIMFNQNINSVVEFCTEKNHNKEAPNAQNQRCNLRSTWEVIQESEDFKQTTPMTAQPPAPTFSLLQTRQRIVCLVLDKSGSMQSDNRLNRMNQASRLFLLQTVEQGSWVGMVTFDSTAYVQSELTQLNSGADRDLLIKRLPTVASGGTSICSGLQAAFTSIKKKYPTDGAEIVLLTDGEDNTISSCFDLVKNSGAIIHTVALGPSAAKELEQLSKMTGGLQTYSSDQIQNNGLVDAFAALSSGNAAISQHSIQLESRGVNLQNKQWMNGSVIVDSTVGKDTLFLVTWTTNSPSIFIWDPSGVQQSGFVLDTNTKVAYLQVPGIAKVGFWKYSIQASSQTLTLTVTSRAASATLPPITVTPVVNKNTGKFPSPVTVYASIRQGASPILRASVTALIESVNGKTVTLELLDNGAGADATKNDGVYSRFFTAFDANGRYSIKIWALGGVTADRQRMAPQRNGVMYIDGWIEDDGEIKMNPPHPETGNVQDSQVCFSRTSSGGSFVATNVPAAPIPDLFPPCQITDLKASIQGQNLVNLTWTAPGDDYDHGRASSYIIRISTSIVDLRNNFSTSLEVNTTDLIPKEASSEEMFEFELDNSFGNGTDVFIAIQAVDKSNLKSEISNIARVSLFIPAQEPPEDSTPSYPEVSINSTIPGIHVLNIVWKWLGEMHVTLGLH", "length": 910 }, "evidence": [ { "id": "45928484", "url": "http://www.informatics.jax.org/homology/45928484", "database": "MGI" }, { "id": "A8K7I4", "url": "https://omabrowser.org/oma/group/A8K7I4/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D7Z6-1", "protein_name": "Calcium-activated chloride channel regulator 1", "gene_name": "Clca1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MESLKSPVFLLILHLLEGVLSESLIQLNNNGYEGIVIAIDHDVPEDEALIQHIKDMVTQASPYLFEATGKRFYFKNVAILIPESWKAKPEYTRPKLETFKNADVLVSTTSPLGNDEPYTEHIGACGEKGIRIHLTPDFLAGKKLTQYGPQDRTFVHEWAHFRWGVFNEYNNDEKFYLSKGKPQAVRCSAAITGKNQVRRCQGGSCITNGKCVIDRVTGLYKDNCVFVPDPHQNEKASIMFNQNINSVVEFCTEKNHNQEAPNDQNQRCNLRSTWEVIQESEDFKQTTPMTAQPPAPTFSLLQIGQRIVCLVLDKSGSMLNDDRLNRMNQASRLFLLQTVEQGSWVGMVTFDSAAYVQSELKQLNSGADRDLLIKHLPTVSAGGTSICSGLRTAFTVIKKKYPTDGSEIVLLTDGEDNTISSCFDLVKQSGAIIHTVALGPAAAKELEQLSKMTGGLQTYSSDQVQNNGLVDAFAALSSGNAAIAQHSIQLESRGVNLQNNQWMNGSVIVDSSVGKDTLFLITWTTHPPTIFIWDPSGVEQNGFILDTTTKVAYLQVPGTAKVGFWKYSIQASSQTLTLTVTSRAASATLPPITVTPVVNKNTGKFPSPVTVYASIRQGASPILRASVTALIESVNGKTVTLELLDNGAGADATKNDGVYSRFFTAFDANGRYSVKIWALGGVTSDRQRAAPPKNRAMYIDGWIEDGEVRMNPPRPETSYVQDKQLCFSRTSSGGSFVATNVPAAAPIPDLFPPCQITDLKASIQGQNLVNLTWTAPGDDYDHGRASNYIIRMSTSIVDLRDHFNTSLQVNTTGLIPKEASSEEIFEFELGGNTFGNGTDIFIAIQAVDKSNLKSEISNIARVSVFIPAQEPPIPEDSTPPCPDISINSTIPGIHVLKIMWKWLGEMQVTLGLH", "length": 913 }, "evidence": [ { "id": "45928484", "url": "http://www.informatics.jax.org/homology/45928484", "database": "MGI" }, { "id": "A8K7I4", "url": "https://omabrowser.org/oma/group/A8K7I4/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "intracellular calcium activated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "zymogen granule membrane", "id": "GO:0042589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042589", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 503, "end_pos": 505, "annotation": "n_glycosylation_sequon" }, { "start_pos": 585, "end_pos": 587, "annotation": "n_glycosylation_sequon" }, { "start_pos": 770, "end_pos": 772, "annotation": "n_glycosylation_sequon" }, { "start_pos": 804, "end_pos": 806, "annotation": "n_glycosylation_sequon" }, { "start_pos": 810, "end_pos": 812, "annotation": "n_glycosylation_sequon" }, { "start_pos": 831, "end_pos": 833, "annotation": "n_glycosylation_sequon" }, { "start_pos": 836, "end_pos": 838, "annotation": "n_glycosylation_sequon" }, { "start_pos": 890, "end_pos": 892, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" }, { "database": "PubMed", "id": "9828122", "url": "https://glygen.org/publication/PubMed/9828122" } ] }, { "annotation": "The 125-kDa product is autoproteolytically processed by the metalloprotease domain and yields to two cell-surface-associated subunits, a 90-kDa protein and a group of 37- to 41-kDa proteins. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.", "evidence": [ { "database": "UniProtKB", "id": "A8K7I4", "url": "https://www.uniprot.org/uniprot/A8K7I4" }, { "database": "PubMed", "id": "9828122", "url": "https://glygen.org/publication/PubMed/9828122" }, { "database": "PubMed", "id": "23112050", "url": "https://glygen.org/publication/PubMed/23112050" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-2684901", "name": "ANOs transport cytosolic Cl- to extracellular region", "equation": "", "summary": "Calcium-activated chloride channels (CaCCs) are ubiquitously expressed and implicated in physiological processes such as sensory transduction, fertilization, epithelial secretion, and smooth muscle contraction. The anoctamin family of transmembrane proteins (ANO, TMEM16) belong to CaCCs and have been shown to transport Cl- ions when activated by intracellular Ca2+ (Galietta 2009, Huang et al. 2012). There are currently 10 members, ANO1-10, all having a similar structure, with eight putative transmembrane domains and cytosolic amino- and carboxy-termini. ANO1 and 2 possess Ca2+ activated Cl- transport activity (Yang et al. 2008, Scudieri et al. 2012) while the remaining members also show some demonstrable activity (Tian et al. 2012). All CLCAs contain a consensus cleavage motif which is recognised by an internal zincin metalloprotease domain within the N terminus. Self-proteolysis within the secretory pathway yields N- and C-terminal fragments, a step critical for CLCA activation of calcium-activated chloride channels (CaCCs) mediated through the N-terminal fragment (Yurtsever et al. 2012).", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14CN2-1", "Q9UQC9-1", "A8K7I4-1" ], "evidence": [ { "id": "R-HSA-2684901", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2684901" } ] }, { "id": "R-HSA-2744242", "name": "TTYH2/3 transport cytosolic Cl- to extracellular region", "equation": "", "summary": "Human homologues 2 and 3 (TTYH2 and 3) mediate the efflux of Cl- from cells in response to the increase in intracellular Ca2+ levels (Suzuki & Mizuno 2004, Suzuki 2006). All CLCAs contain a consensus cleavage motif which is recognised by an internal zincin metalloprotease domain within the N terminus. Self-proteolysis within the secretory pathway yields N- and C-terminal fragments, a step critical for CLCA activation of calcium-activated chloride channels (CaCCs) mediated through the N-terminal fragment (Yurtsever et al. 2012).", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14CN2-1", "Q9UQC9-1", "A8K7I4-1" ], "evidence": [ { "id": "R-HSA-2744242", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2744242" } ] }, { "id": "R-HSA-2744361", "name": "BESTs transport cytosolic Cl- to extracellular region", "equation": "", "summary": "Bestrophins 1-4 (BEST1-4, aka vitelliform macular dystrophy proteins) mediate cytosolic Cl- efflux across plasma membranes. This transport is sensitive to intracellular Ca2+ concentrations (Sun et al. 2002, Tsunenari et al. 2003). Mutations in bestrophins that impair their function are implicated in macular degeneration in the eye. Defects in BEST1 cause vitelliform macular dystrophy (BVMD, Best's disease, MIM:153700), an autosomal dominant form of macular degeneration that usually begins in childhood and is characterized lesions due to abnormal accumulation of lipofuscin within and beneath retinal pigment epithelium (RPE) cells (Marquardt et al. 1998, Petrukhin et al. 1998). All CLCAs contain a consensus cleavage motif which is recognised by an internal zincin metalloprotease domain within the N terminus. Self-proteolysis within the secretory pathway yields N- and C-terminal fragments, a step critical for CLCA activation of calcium-activated chloride channels (CaCCs) mediated through the N-terminal fragment (Yurtsever et al. 2012).", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14CN2-1", "Q9UQC9-1", "A8K7I4-1" ], "evidence": [ { "id": "R-HSA-2744361", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2744361" } ] }, { "id": "R-HSA-5333671", "name": "CLCAs self cleave", "equation": "", "summary": "Calcium-activated chloride channel regulators 1,2,3P and 4 (CLCA1,2,3P and 4), originally named as CLCAs based on the observation that overexpression of them all induced chloride current in response to cytosolic calcium flux. More recent evidence points to them being secreted proteins (Gibson et al. 2005) and being responsible for chloride channel modulation rather that forming chloride channels per se (Hamann et al. 2009). CLCA1 has been found to be overexpressed in aiways of patients suffering from asthma and chronic obstructive pulmonary disease (Hoshino et al. 2002, Toda et al. 2002, Kamada et al. 2004). All CLCAs contain a consensus cleavage motif which is recognised by an internal zincin metalloprotease domain within the N terminus. Self-proteolysis within the secretory pathway yields N- and C-terminal fragments, a step critical for CLCA activation of calcium-activated chloride channels (CaCCs) mediated through the N-terminal fragment (Yurtsever et al. 2012).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14CN2-1", "Q9UQC9-1", "A8K7I4-1" ], "evidence": [ { "id": "R-HSA-5333671", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5333671" } ] }, { "id": "R-HSA-9659568", "name": "ANO1 transports cytosolic Cl- to extracellular region", "equation": "", "summary": "Calcium-activated chloride channels (CaCCs) are ubiquitously expressed and implicated in physiological processes such as sensory transduction, fertilization, epithelial secretion, and smooth muscle contraction. The anoctamin family of transmembrane proteins (ANO, TMEM16) belong to CaCCs and have been shown to transport Cl- ions when activated by intracellular Ca2+ (Galietta 2009, Huang et al. 2012). ANO1 and 2 possess Ca2+ activated Cl- transport activity (Yang et al. 2008, Scudieri et al. 2012) while the remaining members also show some demonstrable activity (Tian et al. 2012). All CLCAs contain a consensus cleavage motif which is recognised by an internal zincin metalloprotease domain within the N terminus. Self-proteolysis within the secretory pathway yields N- and C-terminal fragments, a step critical for CLCA activation of calcium-activated chloride channels (CaCCs) mediated through the N-terminal fragment (Yurtsever et al. 2012).", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14CN2-1", "Q9UQC9-1", "A8K7I4-1" ], "evidence": [ { "id": "R-HSA-9659568", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9659568" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A8K7I4", "gene_name": "CLCA1", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "A8K7I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K7I4" } ] } ] }, { "uniprot_ac": "Q14CN2", "gene_name": "CLCA4", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "Q14CN2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14CN2" } ] } ] }, { "uniprot_ac": "Q9UQC9", "gene_name": "CLCA2", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "Q9UQC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UQC9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 503, 585, 770, 804, 810, 831, 836, 890 ], "o_linked_sites": [], "snv_sites": [ 5, 21, 30, 31, 44, 71, 565, 574, 585, 587, 625, 647, 729, 782, 804, 831, 833, 836, 838 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 503, "end_pos": 505 }, { "start_pos": 585, "end_pos": 587 }, { "start_pos": 770, "end_pos": 772 }, { "start_pos": 804, "end_pos": 806 }, { "start_pos": 810, "end_pos": 812 }, { "start_pos": 831, "end_pos": 833 }, { "start_pos": 836, 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