{ "uniprot_canonical_ac": "A1A5B4-1", "ptm_annotation": [], "sequence": { "header": "sp|A1A5B4-1|ANO9_HUMAN Isoform 1 of Anoctamin-9 OS=Homo sapiens OX=9606 GN=ANO9 PE=1 SV=3 CANONICAL=A1A5B4-1", "length": 782, "sequence": "MQGEESLRILVEPEGDSFPLMEISTCETEASEQWDYVLVAQRHTQRDPRQARQQQFLEELRRKGFHIKVIRDQKQVFFGIRADNSVFGLYRTLLLEPEGPAPHAELAAPTTIPVTTSLRIRIVNFVVMNNKTSAGETFEDLMKDGVFEARFPLHKGEGRLKKTWARWRHMFREQPVDEIRNYFGEKVALYFVWLGWYTYMLVPAALTGLLVFLSGFSLFEASQISKEICEAHDILMCPLGDHSRRYQRLSETCTFAKLTHLFDNDGTVVFAIFMALWATVFLEIWKRQRARVVLHWDLYVWDEEQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSSAVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTRLAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSPCLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQSVKNKVLEVKYQRLREKMWHGRQRLGGVGAGSRPPMPAHPTPASIFSARSTDV" }, "uniprot_id": "ANO9_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly", "reported.uniprotkb_gly", "reported.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19015192", "type": [ "PubMed" ], "id": "19015192" } ], "title": "Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels.", "journal": "The Journal of physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ], "authors": "Hartzell HC, Yu K, Xiao Q, Chien LT, Qu Z", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20056604", "type": [ "PubMed" ], "id": "20056604" } ], "title": "Expression and function of epithelial anoctamins.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "authors": "Kunzelmann K., Schreiber R., Kongsuphol P., Martins J.R., Mirza M., Uliyakina I., Warth R.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21607626", "type": [ "PubMed" ], "id": "21607626" } ], "title": "Anoctamins.", "journal": "Pflugers Arch.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "authors": "Kunzelmann K., Schreiber R., Faria D., Kongsuphol P., Martins J.R., Ousingsawat J., Rock J., Roussa E., Thevenod F., Tian Y.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21642943", "type": [ "PubMed" ], "id": "21642943" } ], "title": "Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?", "journal": "Acta Pharmacol. Sin.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "authors": "Duran C., Hartzell H.C.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21984732", "type": [ "PubMed" ], "id": "21984732" } ], "title": "The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels.", "journal": "Exp. Physiol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ], "authors": "Ferrera L., Galietta L.J., Scudieri P., Sondo E.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22178883", "type": [ "PubMed" ], "id": "22178883" } ], "title": "CFTR and TMEM16A are separate but functionally related Cl-channels.", "journal": "Cell. Physiol. Biochem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "authors": "Kunzelmann K., Schreiber R., Kongsuphol P., Ousingsawat J.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22302790", "type": [ "PubMed" ], "id": "22302790" } ], "title": "The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age.", "journal": "Exp. Physiol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "authors": "Gray M.A., Winpenny J.P.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22946059", "type": [ "PubMed" ], "id": "22946059" } ], "title": "Anoctamins are a family of Ca2+ activated Cl- channels.", "journal": "J. Cell Sci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "authors": "Kunzelmann K., Schreiber R., Tian Y.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "type": [ "PubMed" ], "id": "24190977" } ], "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26317553", "type": [ "PubMed" ], "id": "26317553" } ], "title": "Identification and characterization of ANO9 in stage II and III colorectal carcinoma.", "journal": "Oncotarget", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ], "authors": "Li C, Cai S, Wang X, Jiang Z", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26872154", "type": [ "PubMed" ], "id": "26872154" } ], "title": "Low Vitamin-D Levels Combined with PKP3-SIGIRR-TMEM16J Host Variants Is Associated with Tuberculosis and Death in HIV-Infected and -Exposed Infants.", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ], "authors": "Gupta A, Montepiedra G, Gupte A, Zeldow B, Jubulis J, Detrick B, Violari A, Madhi S, Bobat R, Cotton M, Mitchell C, Spector S", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29024940", "type": [ "PubMed" ], "id": "29024940" } ], "title": "ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer.", "journal": "British journal of cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ], "authors": "Jun I, Park HS, Piao H, Han JW, An MJ, Yun BG, Zhang X, Cha YH, Shin YK, Yook JI, Jung J, Gee HY, Park JS, Yoon DS, Jeung HC, Lee MG", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29604966", "type": [ "PubMed" ], "id": "29604966" } ], "title": "Anoctamin 9/TMEM16J is a cation channel activated by cAMP/PKA signal.", "journal": "Cell calcium", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ], "authors": "Kim H, Kim H, Lee J, Lee B, Kim HR, Jung J, Lee MO, Oh U", "date": "2018" } ], "uniprot_ac": "A1A5B4", "site_annotation": [ { "end_pos": 132, "annotation": "n_glycosylation_sequon", "start_pos": 130 }, { "end_pos": 643, "annotation": "n_glycosylation_sequon", "start_pos": 641 }, { "end_pos": 654, "annotation": "n_glycosylation_sequon", "start_pos": 652 }, { "end_pos": 676, "annotation": "n_glycosylation_sequon", "start_pos": 674 }, { "end_pos": 692, "annotation": "n_glycosylation_sequon", "start_pos": 690 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4#A1A5B4-1", "isoform_ac": "A1A5B4-1", "locus": { "end_pos": 418374, "strand": "+", "start_pos": 441926, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000332826", "id": "ENST00000332826", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000332788", "id": "ENSP00000332788", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A5B4-1|ANO9_HUMAN Isoform 1 of Anoctamin-9 OS=Homo sapiens OX=9606 GN=ANO9 PE=1 SV=3 CANONICAL=A1A5B4-1", "length": 782, "sequence": "MQGEESLRILVEPEGDSFPLMEISTCETEASEQWDYVLVAQRHTQRDPRQARQQQFLEELRRKGFHIKVIRDQKQVFFGIRADNSVFGLYRTLLLEPEGPAPHAELAAPTTIPVTTSLRIRIVNFVVMNNKTSAGETFEDLMKDGVFEARFPLHKGEGRLKKTWARWRHMFREQPVDEIRNYFGEKVALYFVWLGWYTYMLVPAALTGLLVFLSGFSLFEASQISKEICEAHDILMCPLGDHSRRYQRLSETCTFAKLTHLFDNDGTVVFAIFMALWATVFLEIWKRQRARVVLHWDLYVWDEEQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSSAVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTRLAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSPCLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQSVKNKVLEVKYQRLREKMWHGRQRLGGVGAGSRPPMPAHPTPASIFSARSTDV" } }, { "url": "https://www.uniprot.org/uniprot/A1A5B4#A1A5B4-2", "isoform_ac": "A1A5B4-2", "locus": {}, "sequence": { "header": "sp|A1A5B4-2|ANO9_HUMAN Isoform 2 of Anoctamin-9 OS=Homo sapiens OX=9606 GN=ANO9 PE=1 SV=3 CANONICAL=A1A5B4-1", "length": 483, "sequence": "MPAVSEEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSSAVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTRLAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRRNYLLNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSPCLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQSVKNKVLEVKYQRLREKMWHGRQRLGGVGAGSRPPMPAHPTPASIFSARSTDV" } }, { "url": "https://www.uniprot.org/uniprot/A1A5B4#A1A5B4-3", "isoform_ac": "A1A5B4-3", "locus": {}, "sequence": { "header": "sp|A1A5B4-3|ANO9_HUMAN Isoform 3 of Anoctamin-9 OS=Homo sapiens OX=9606 GN=ANO9 PE=1 SV=3 CANONICAL=A1A5B4-1", "length": 186, "sequence": "MQGEESLRILVEPEGDSFPLMEISTCETEASEQWDYVLVAQRHTQRDPRQARQQQFLEELRRKGFHIKVIRDQKQVFFGIRADNSVFGLYRTLLLEPEGPAPHAELAAPTTIPVTTSLRIRIVNFVVMNNKTSAGETFEDLMKDGVFEARFPLHKVRGGPAWRGPWGGTLGWGLSLSVTRARGRDA" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:338440", "resource": "KEGG Pathway", "id": "hsa:338440", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351", "resource": "Reactome", "id": "R-HSA-2672351", "name": "Stimuli-sensing channels" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "annotation": "ANO9 is a cation channel activated by a cAMP/PKA pathway and could play a role in intestine function.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "annotation": "Children with low 25-hydroxyvitamin D and TMEM16J rs7111432-AA or PKP3 rs10902158-GG polymorphisms were at increased risk for tuberculosis or death. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1A5B4#function", "annotation": "Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:22178883). Can inhibit the activity of ANO1 (PubMed:20056604, PubMed:22946059).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4#function", "id": "A1A5B4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "annotation": "Our results showed that ANO9 is overexpressed in most pancreatic cancer cell lines tested and in B30% of tissue samples obtained from patients with pancreatic cancer. Moreover, high ANO9 expression was associated with increased proliferation of pancreatic cancer cells and poor survival in patients with pancreatic cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "annotation": "Suggest role for up-regulation of ANO9 in progression and metastasis of stage II and III colorectal carcinoma.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "id": "NP_001012302.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1LY14-1", "protein_name": "Anoctamin", "sequence": { "length": 746, "sequence": "QVDESLQILVGSEGDHLPLMEMGSCKPEASDQWDCVLVADLQTQKSQKHVQRQQQFLEKLERNGFHFKVLKDQKKVFFGIRADSAVIDMYRTLLMKPEDPRSRAKQNFNIATTRIRIVNFVVNSKKRLSDTFEDLVKDGVFETMFLLHKGEEDLSREWAQWRNVFQPQPIDKIREYFGEKVALYFTWLGWYTYMLVPAAVVGLIVFLSGFALFDSSQISKEICSADDIFMCPLGDNSRRYQRLSEMCTFAKLTHLFDNEGTVIFAIFMALWATVFLEIWKRKRAREVQSWELYEWDEEEEEMALELINSPHYELKKHHHSYLSSTIILILSLFMICLMIGMAHLLVVYRVLAAALFSSFLEQQVTTAVVVTGAVVHYVIIVIMTKVNKCVALKLCKFEEPRTFSEQESKFTVKFFILQFFAHFSSLIYIAFILGRINGHPGKSTRLAGLWKLEECHLSGCMMDLFIQMAIIMGLKQTLSNCIEYLYPLLAHKCRSVQAYRHGRKSKDPELAEWQRNYHMNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVRLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYHYGPCRKNQTFTDDCLKDYVNHSLSVFYTKDFQDHGRMEGQENVTVCRYRDYRNDHDYNLSEQFWFILAIRLAFVILFEHVALCIKLIAAWFVPDVPQSVKNEVLEEKYQRIRGRMCFSSRSTDV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1A5B4/", "id": "A1A5B4", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ano9", "tax_id": 10116 }, { "uniprot_canonical_ac": "P86044-1", "protein_name": "Anoctamin-9", "sequence": { "length": 747, "sequence": "MQDDESSQIFMGPEGDQLPLVEMGSCKPEASDQWDCVLVADLQTLKIQKHAQKQLQFLENLESNGFHFKMLKDQKKVFFGIRADSDVIDKYRTLLMNPEDSGSRDEQSFNIATTRIRIVSFVVNNKLKPGDTFEDLVKDGVFETMFLLHKGEQNLKNIWARWRNMFEPQPIDEIREYFGEKVALYFTWLGWYTYMLVPAAVVGLIVFLSGFALFDSSQISKEICSANDIFMCPLGDHSHRYLRLSEMCTFAKLTHLFDNEGTVLFAIFMALWATVFLEIWKRKRAHEVQSWKLYEWDEEEEEMALELINSPHYKLKDHRHSYLSSTIILILSLFMICLMIGMAHVLVVYRVLAGALFSSLVKQQVTTAVVVTGAVVHYIIIVIMTKVNKYVALKLCKFEESGTFSEQERKFTVKFFILQFFAHFSSLIYIAFILGRINGHPGKSTRLAGLWKLEECHLSGCMMDLFIQMAIIMGLKQTLSNCVEYLCPLLAHKWRLMWASKHGHMSKDPELKEWQRNYYMNPINTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVRLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYHYGPCRTNRTFTDDCLTNYVNHSLSVFYTKHFNDHSRMEGQENVTVCRYRDYRNEHDYNLSEQFWFILAIRLTFVILFEHFALCIKLIAAWFVPDVPQKVKNEVLQEKYDRIRHRMRFSSRSTDV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1A5B4/", "id": "A1A5B4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/67083", "id": "67083", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ano9", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "S", "alt_nt": "null", "chr_id": "11", "ref_nt": "T", "chr_pos": "418963C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282966406", "id": "rs1282966406", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282966406#frequency_tab", "id": "rs1282966406", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 654, "keywords": [ "ebi", "germline" ], "end_pos": 654, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS); n-glyco-sequon-loss (NHS->NHN)." }, { "sequence_org": "F", "alt_nt": "null", "chr_id": "11", "ref_nt": "G", "chr_pos": "430395A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774373882", "id": "rs774373882", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774373882", "id": "rs774373882", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs774373882#frequency_tab", "id": "rs774373882", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs774373882", "id": "rs774373882", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 183, "keywords": [ "ebi", "germline" ], "end_pos": 183, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYF->NYS)." }, { "sequence_org": "D", "alt_nt": "null", "chr_id": "11", "ref_nt": "T", "chr_pos": "430133C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384468554", "id": "rs1384468554", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384468554", "id": "rs1384468554", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 241, "keywords": [ "ebi", "germline" ], "end_pos": 241, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHS->NHS)." }, { "sequence_org": "D", "alt_nt": "null", "chr_id": "11", "ref_nt": "T", "chr_pos": "429797C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453229197", "id": "rs1453229197", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453229197#frequency_tab", "id": "rs1453229197", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 265, "keywords": [ "ebi", "germline" ], "end_pos": 265, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT)." }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "11", "ref_nt": "T", "chr_pos": "428187G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776128506", "id": "rs776128506", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776128506", "id": "rs776128506", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs776128506#frequency_tab", "id": "rs776128506", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs776128506", "id": "rs776128506", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 412, "keywords": [ "ebi", "germline" ], "end_pos": 412, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS)." }, { "sequence_org": "H", "alt_nt": "null", "chr_id": "11", "ref_nt": "T", "chr_pos": "428128G>", "evidence": [ { "url": 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"https://www.ncbi.nlm.nih.gov/protein/NP_001012302.2", "ac": "NP_001012302.2", "name": "anoctamin-9 isoform 1", "summary": "The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "pmid": "22946059", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "intracellular calcium activated chloride channel activity", "id": "GO:0005229" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "chloride channel activity", "id": "GO:0005254" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "phospholipid scramblase activity", "id": "GO:0017128" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "22946059", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "transmembrane transport", "id": "GO:0055085" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "pmid": "22946059", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5B4", "id": "A1A5B4", "database": "UniProtKB" } ], "name": "chloride transport", "id": "GO:0006821" }, { "url": 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"id": "A1A5B4", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007632", "id": "IPR007632", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031290", "id": "IPR031290", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:338440", "id": "hsa:338440", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A1A5B4", "id": "NX_A1A5B4", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/QKQVFFG/", "id": "QKQVFFG", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1263362at2759", "id": "1263362at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308", "id": "PTHR12308", "database": "PANTHER" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF37", "id": "PTHR12308:SF37", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF04547", "id": "PF04547", "database": 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