{ "uniprot_canonical_ac": "O43405-1", "uniprot_ac": "O43405", "uniprot_id": "COCH_HUMAN", "mass": { "chemical_mass": 59483.0, "monoisotopic_mass": 59483.0 }, "refseq": { "ac": "NP_001128530", "name": "cochlin isoform b precursor", "summary": "The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" }, "gene_names": [ { "name": "COCH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43405", "id": "O43405" }, { "name": "COCH-5B2; COCH5B2; DFNA9; DFNB110", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530", "id": "NP_001128530" }, { "name": "COCH5B2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43405", "id": "O43405" }, { "name": "COCH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530", "id": "NP_001128530" }, { "name": "PRO294", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43405", "id": "O43405" } ], "protein_names": [ { "name": "Cochlin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43405" }, { "name": "COCH-5B2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43405" }, { "name": "coagulation factor C homolog, cochlin (Limulus polyphemus)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530", "id": "NP_001128530" }, { "name": "cochlin isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530", "id": "NP_001128530" } ], "function": [ { "annotation": "Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" }, { "database": "PubMed", "id": "35020687", "url": "https://glygen.org/publication/PubMed/35020687" } ] }, { "annotation": "Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" }, { "database": "PubMed", "id": "37709329", "url": "https://glygen.org/publication/PubMed/37709329" } ] }, { "annotation": "Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" }, { "database": "PubMed", "id": "35204720", "url": "https://glygen.org/publication/PubMed/35204720" } ] }, { "annotation": "Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" }, { "database": "PubMed", "id": "36717952", "url": "https://glygen.org/publication/PubMed/36717952" } ] }, { "annotation": "Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" }, { "database": "PubMed", "id": "38167558", "url": "https://glygen.org/publication/PubMed/38167558" } ] }, { "annotation": "Plays a role in the control of cell shape and motility in the trabecular meshwork.", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405#function" }, { "database": "PubMed", "id": "21886777", "url": "https://glygen.org/publication/PubMed/21886777" }, { "database": "UniProtKB", "id": "A0A2R8Y3T0", "url": "https://www.uniprot.org/uniprot/A0A2R8Y3T0#function" }, { "database": "UniProtKB", "id": "ARBA00003388", "url": "https://www.uniprot.org/uniprot/ARBA00003388#function" }, { "database": "UniProtKB", "id": "A0A2U3TZE7", "url": "https://www.uniprot.org/uniprot/A0A2U3TZE7#function" }, { "database": "UniProtKB", "id": "G3V5V4", "url": "https://www.uniprot.org/uniprot/G3V5V4#function" } ] }, { "annotation": "The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" } ] } ], "disease": [ { "disease_id": "DOID:0110593", "recommended_name": { "id": "DOID:0110593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110593", "name": "autosomal dominant nonsyndromic deafness 9", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110593", "name": "DFNA9", "description": "" }, { "id": "DOID:0110593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110593", "name": "autosomal dominant deafness 9", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43405" } ], "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43405" } ], "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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43405" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43405" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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{ "id": "G3V5X3-1", "url": "https://www.uniprot.org/uniprot/G3V5X3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJJ0", "url": "https://www.uniprot.org/uniprot/H0YJJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJJ0-1", "url": "https://www.uniprot.org/uniprot/H0YJJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJW4", "url": "https://www.uniprot.org/uniprot/H0YJW4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJW4-1", "url": "https://www.uniprot.org/uniprot/H0YJW4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43405-1", "url": "https://www.uniprot.org/uniprot/O43405-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43405-2", "url": "https://www.uniprot.org/uniprot/O43405-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ", "length": 550, "header": "sp|O43405-1|COCH_HUMAN Isoform 1 of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y3T0-1", "url": "", "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTDVAERMSSTTVDSEERLLRGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAAK", "length": 513, "header": "tr|A0A2R8Y3T0-1|A0A2R8Y3T0_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30894917, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555117.2", "url": "https://www.ensembl.org/id/ENST00000555117.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000493569.1", "url": "https://www.ensembl.org/id/ENSP00000493569.1" } ] } }, { "isoform_ac": "A0A2U3TZE7-1", "url": "", "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAGEWGSWGASRRSQGLSTSGYKRDSDPAPWASALPPEEEGAKVEPPRGAPALTPAADLLLLTCFSHAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ", "length": 615, "header": "tr|A0A2U3TZE7-1|A0A2U3TZE7_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30889788, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216361.9", "url": "https://www.ensembl.org/id/ENST00000216361.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000216361.5", "url": "https://www.ensembl.org/id/ENSP00000216361.5" } ] } }, { "isoform_ac": "G3V4C4-1", "url": "", "sequence": { "sequence": "MLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ", "length": 438, "header": "tr|G3V4C4-1|G3V4C4_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30889788, "end_pos": 30878908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460581.6", "url": "https://www.ensembl.org/id/ENST00000460581.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000451713.1", "url": "https://www.ensembl.org/id/ENSP00000451713.1" } ] } }, { "isoform_ac": "G3V5G6-1", "url": "", "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHR", "length": 80, "header": "tr|G3V5G6-1|COCH_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30880452, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553772.5", "url": "https://www.ensembl.org/id/ENST00000553772.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452343.1", "url": "https://www.ensembl.org/id/ENSP00000452343.1" } ] } }, { "isoform_ac": "G3V5V4-1", "url": "", "sequence": { "sequence": "MSAAWIPALGLAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQA", "length": 193, "header": "tr|G3V5V4-1|COCH_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30880732, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556908.5", "url": "https://www.ensembl.org/id/ENST00000556908.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452541.1", "url": "https://www.ensembl.org/id/ENSP00000452541.1" } ] } }, { "isoform_ac": "G3V5X3-1", "url": "", "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDK", "length": 202, "header": "tr|G3V5X3-1|G3V5X3_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30885620, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555881.5", "url": "https://www.ensembl.org/id/ENST00000555881.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452569.1", "url": "https://www.ensembl.org/id/ENSP00000452569.1" } ] } }, { "isoform_ac": "H0YJJ0-1", "url": "", "sequence": { "sequence": "PIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRRQK", "length": 55, "header": "tr|H0YJJ0-1|H0YJJ0_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30879432, "end_pos": 30877574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557065.1", "url": "https://www.ensembl.org/id/ENST00000557065.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451629.1", "url": "https://www.ensembl.org/id/ENSP00000451629.1" } ] } }, { "isoform_ac": "H0YJW4-1", "url": "", "sequence": { "sequence": "XCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTDITLEKYLFVMLKRSENQQTYLMNADVAERMSSTTVDSEERLLRGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ", "length": 434, "header": "tr|H0YJW4-1|H0YJW4_HUMAN Computationally mapped isoform of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30889789, "end_pos": 30880587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468826.2", "url": "https://www.ensembl.org/id/ENST00000468826.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000452284.1", "url": "https://www.ensembl.org/id/ENSP00000452284.1" } ] } }, { "isoform_ac": "O43405-1", "url": "", "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ", "length": 550, "header": "sp|O43405-1|COCH_HUMAN Isoform 1 of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30889788, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396618.9", "url": "https://www.ensembl.org/id/ENST00000396618.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000379862.3", "url": "https://www.ensembl.org/id/ENSP00000379862.3" } ] } }, { "isoform_ac": "O43405-2", "url": "", "sequence": { "sequence": "MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAAK", "length": 494, "header": "sp|O43405-2|COCH_HUMAN Isoform 2 of Cochlin OS=Homo sapiens OX=9606 GN=COCH PE=1 SV=1 CANONICAL=O43405-1" }, "locus": { "chromosome": "14", "start_pos": 30894917, "end_pos": 30874939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475087.5", "url": "https://www.ensembl.org/id/ENST00000475087.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451528.1", "url": "https://www.ensembl.org/id/ENSP00000451528.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G27126ED", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "O43405@N100", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/O43405@N100" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "O43405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43405#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 124, "start_aa": "Thr", "end_pos": 124, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr124", "evidence": [ { "id": "O43405", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SSTQEATGQAVSTAHPPTGK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 128, "start_aa": "Ser", "end_pos": 147, "end_aa": "Lys", "evidence": [ { "id": "O43405", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 139, "start_aa": "Ser", "end_pos": 139, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser139", "evidence": [ { "id": "O43405", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 140, "start_aa": "Thr", "end_pos": 140, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr140", "evidence": [ { "id": "O43405", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 145, "start_aa": "Thr", "end_pos": 145, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr145", "evidence": [ { "id": "O43405", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 221, "start_aa": "Asn", "end_pos": 221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn221", "evidence": [ { "id": "O43405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43405#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": 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"34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O43405", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene.", "journal": "Human molecular genetics", "date": "1999", "authors": "Fransen E, Verstreken M, Verhagen WI, Wuyts FL, Huygen PL, D'Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJ, Declau F, Van de Heyning PH, Van Camp G", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "10400989", "url": "https://glygen.org/publication/PubMed/10400989" } ] }, { "title": "Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.", "journal": "Human mutation", "date": "2001", "authors": "Kamarinos M, McGill J, Lynch M, Dahl H", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "11295836", "url": "https://glygen.org/publication/PubMed/11295836" } ] }, { "title": "NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.", "journal": "EMBO J.", "date": "2001", "authors": "Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, B\u00e1nyai L, Patthy L, Otting G", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "11574466", "url": "https://glygen.org/publication/PubMed/11574466" } ] }, { "title": "Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.", "journal": "Journal of medical genetics", "date": "2003", "authors": "Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "12843317", "url": "https://glygen.org/publication/PubMed/12843317" } ] }, { "title": "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.", "journal": "Human genetics", "date": "2003", "authors": "Grabski R, Szul T, Sasaki T, Timpl R, Mayne R, Hicks B, Sztul E", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" }, { "database": "dbSNP", "id": "rs121908930", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908930" } ], "reference": [ { "type": "PubMed", "id": "12928864", "url": "https://glygen.org/publication/PubMed/12928864" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.", "journal": "European journal of human genetics : EJHG", "date": "2003", "authors": "Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "14512963", "url": "https://glygen.org/publication/PubMed/14512963" } ] }, { "title": "Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).", "journal": "American journal of medical genetics. Part A", "date": "2006", "authors": "Collin RW, Pauw RJ, Schoots J, Huygen PL, Hoefsloot LH, Cremers CW, Kremer H", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "16835921", "url": "https://glygen.org/publication/PubMed/16835921" } ] }, { "title": "Phenotype description of a novel DFNA9/COCH mutation, I109T.", "journal": "The Annals of otology, rhinology, and laryngology", "date": "2007", "authors": "Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "17561763", "url": "https://glygen.org/publication/PubMed/17561763" } ] }, { "title": "Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.", "journal": "J. Assoc. Res. Otolaryngol.", "date": "2007", "authors": "Kommareddi PK, Nair TS, Raphael Y, Telian SA, Kim AH, Arts HA, El-Kashlan HK, Carey TE", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "17926100", "url": "https://glygen.org/publication/PubMed/17926100" } ] }, { "title": "Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.", "journal": "Clinical genetics", "date": "2008", "authors": "Yuan HJ, Han DY, Sun Q, Yan D, Sun HJ, Tao R, Cheng J, Qin W, Angeli S, Ouyang XM, Yang SZ, Feng L, Cao JY, Feng GY, Wang YF, Dai P, Zhai SQ, Yang WY, He L, Liu XZ", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "18312449", "url": "https://glygen.org/publication/PubMed/18312449" } ] }, { "title": "Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility.", "journal": "PloS one", "date": "2011", "authors": "Goel Manik, Sienkiewicz Adam E, Picciani Renata, Lee Richard K, Bhattacharya Sanjoy K", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "21886777", "url": "https://glygen.org/publication/PubMed/21886777" } ] }, { "title": "A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2012", "authors": "Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "22610276", "url": "https://glygen.org/publication/PubMed/22610276" } ] }, { "title": "Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.", "journal": "Clinical genetics", "date": "2013", "authors": "Gao J, Xue J, Chen L, Ke X, Qi Y, Liu Y", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "22931125", "url": "https://glygen.org/publication/PubMed/22931125" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O43405", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.", "journal": "International journal of pediatric otorhinolaryngology", "date": "2013", "authors": "Chen DY, Chai YC, Yang T, Wu H", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "23993205", "url": "https://glygen.org/publication/PubMed/23993205" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.", "journal": "Journal of translational medicine", "date": "2014", "authors": "Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "25388789", "url": "https://glygen.org/publication/PubMed/25388789" } ] }, { "title": "Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.", "journal": "European journal of human genetics : EJHG", "date": "2018", "authors": "JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W", "evidence": [ { "database": "UniProtKB", "id": "O43405", "url": "https://www.uniprot.org/uniprot/O43405" } ], "reference": [ { "type": "PubMed", "id": "29449721", "url": "https://glygen.org/publication/PubMed/29449721" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43405", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43405" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.", "journal": "Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology", "date": "2022", "authors": "Salah M, Moyaert J, Vanderveken O, Schepers S, Termote B, Van Rompaey V, Janssens de Varebeke S", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" } ], "reference": [ { "type": "PubMed", "id": "35020687", "url": "https://glygen.org/publication/PubMed/35020687" } ] }, { "title": "Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.", "journal": "Biomolecules", "date": "2022", "authors": "Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" } ], "reference": [ { "type": "PubMed", "id": "35204720", "url": "https://glygen.org/publication/PubMed/35204720" } ] }, { "title": "Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis.", "journal": "Journal of orthopaedic surgery and research", "date": "2023-01-30", "authors": "Lin Yuan, Dai Hanhao, Yu Guoyu, Song Chao, Liu Jun, Xu Jie", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" } ], "reference": [ { "type": "PubMed", "id": "36717952", "url": "https://glygen.org/publication/PubMed/36717952" } ] }, { "title": "Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study).", "journal": "BMJ open", "date": "2023-09-13", "authors": "Gommeren Hanne, Moyaert Julie, Bosmans Joyce, Mertens Griet, Cras Patrick, Engelborghs Sebastiaan, Van Ombergen Angelique, Gilles Annick, Van Dam Debby, Van Rompaey Vincent", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" } ], "reference": [ { "type": "PubMed", "id": "37709329", "url": "https://glygen.org/publication/PubMed/37709329" } ] }, { "title": "Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.", "journal": "Scientific reports", "date": "2024-01-02", "authors": "Moyaert Julie, Gilles Annick, Mertens Griet, Lammers Marc J W, Gommeren Hanne, Janssens de Varebeke Sebastien, Fransen Erik, Verhaert Nicolas, Denys Sam, van de Berg Raymond, Pennings Ronald, Vanderveken Olivier, Van Rompaey Vincent", "evidence": [ { "database": "RefSeq", "id": "NP_001128530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128530" } ], "reference": [ 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