{ "uniprot_canonical_ac": "Q6ZUT3-1", "uniprot_ac": "Q6ZUT3", "uniprot_id": "FRMD7_HUMAN", "mass": { "chemical_mass": 81614.0, "monoisotopic_mass": 81614.0 }, "refseq": { "ac": "NP_001293122", "name": "FERM domain-containing protein 7 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" }, "gene_names": [ { "name": "FRMD7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6ZUT3", "id": "Q6ZUT3" }, { "name": "FRMD7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122", "id": "NP_001293122" }, { "name": "NYS; NYS1; XIPAN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122", "id": "NP_001293122" }, { "name": "RP6-213H19.2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6ZUT3", "id": "Q6ZUT3" }, { "name": "hCG_1646402", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6ZUT3", "id": "Q6ZUT3" } ], "protein_names": [ { "name": "FERM domain-containing protein 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6ZUT3" }, { "name": "FERM domain-containing protein 7 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122", "id": "NP_001293122" }, { "name": "FERM domain-containing protein 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122", "id": "NP_001293122" } ], "function": [ { "annotation": "Correlations of FRMD7 gene mutations with ocular oscillations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" }, { "database": "PubMed", "id": "35705619", "url": "https://glygen.org/publication/PubMed/35705619" } ] }, { "annotation": "FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" }, { "database": "PubMed", "id": "32446246", "url": "https://glygen.org/publication/PubMed/32446246" } ] }, { "annotation": "Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.", "evidence": [ { "database": "RefSeq", "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" }, { "database": "PubMed", "id": "31495972", "url": "https://glygen.org/publication/PubMed/31495972" } ] }, { "annotation": "Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.", "evidence": [ { "database": "RefSeq", "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" }, { "database": "PubMed", "id": "35762937", "url": "https://glygen.org/publication/PubMed/35762937" } ] }, { "annotation": "Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3#function" }, { "database": "PubMed", "id": "17013395", "url": "https://glygen.org/publication/PubMed/17013395" }, { "database": "UniProtKB", "id": "A2AD83", "url": "https://www.uniprot.org/uniprot/A2AD83#function" }, { "database": "PubMed", "id": "23946638", "url": "https://glygen.org/publication/PubMed/23946638" } ] }, { "annotation": "X-linked recessive congenital motor nystagmus mapped to a region overlapped with that for X-linkaged dominant form.", "evidence": [ { "database": "RefSeq", "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" }, { "database": "PubMed", "id": "16240070", "url": "https://glygen.org/publication/PubMed/16240070" } ] } ], "disease": [ { "disease_id": "DOID:0111790", "recommended_name": { "id": "DOID:0111790", "resource": "Disease Ontology", "url": 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"DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian 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], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q6ZUT3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6ZUT3" } ], "glycoeffect": [], "start_pos": 589, "end_pos": 589, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "132078251", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R589", "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:1612", 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"http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", 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"tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "38.99", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165694", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165694" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "19.46", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165694", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165694" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "37.88", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000165694", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165694" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q6ZUT3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZUT3" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q6ZUT3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZUT3" } ], "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 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"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": 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"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": "Q6ZUT3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZUT3" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q6ZUT3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZUT3" } ], "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": [ { 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"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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "common_name": "Human" } ], "gene": [ { "name": "FRMD7", "url": "https://www.uniprot.org/uniprot/Q6ZUT3", "locus": { "chromosome": "X", "start_pos": 56030, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_867", "url": "https://www.ensembl.org/id/LRG_867" } ] } } ], "crossref": [ { "id": "ENSG00000165694", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165694", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q6ZUT3", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6ZUT3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd13193", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd13193", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14473", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14473", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd17188", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17188", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FRMD7", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD7", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "90167", "url": "https://www.ncbi.nlm.nih.gov/gene/90167", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8079", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8079", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q6ZUT3", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q6ZUT3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000299", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000299", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014352", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014352", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014847", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014847", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018980", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018980", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019747", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019747", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019748", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019748", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019749", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019749", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029071", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029071", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035963", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035963", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041788", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041788", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:90167", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:90167", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300628", "url": "http://www.omim.org/entry/300628", "database": "MIM", "categories": [ "Other" ] }, { "id": "310700", "url": "http://www.omim.org/entry/310700", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q6ZUT3", "url": "https://www.nextprot.org/entry/NX_Q6ZUT3", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q6ZUT3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZUT3", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "PYIPCTS", "url": "https://omabrowser.org/oma/group/PYIPCTS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2876516at2759", "url": "http://www.orthodb.org/?query=2876516at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45858", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45858", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45858:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45858:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00373", "url": "http://pfam.xfam.org/family/PF00373", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08736", "url": "http://pfam.xfam.org/family/PF08736", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09379", "url": "http://pfam.xfam.org/family/PF09379", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09380", "url": "http://pfam.xfam.org/family/PF09380", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q6ZUT3", "url": "https://pharos.nih.gov/targets/Q6ZUT3", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q6ZUT3", "url": "http://purl.obolibrary.org/obo/PR_Q6ZUT3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZUT3-1", "url": "https://www.uniprot.org/uniprot/Q6ZUT3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZUT3-2", "url": "https://www.uniprot.org/uniprot/Q6ZUT3-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R7S7", "url": "https://www.uniprot.org/uniprot/X6R7S7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R7S7-1", "url": "https://www.uniprot.org/uniprot/X6R7S7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEIVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA", "length": 714, "header": "sp|Q6ZUT3-1|FRMD7_HUMAN Isoform 1 of FERM domain-containing protein 7 OS=Homo sapiens OX=9606 GN=FRMD7 PE=1 SV=1 CANONICAL=Q6ZUT3-1" }, "isoforms": [ { "isoform_ac": "Q6ZUT3-1", "url": "", "sequence": { "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEIVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA", "length": 714, "header": "sp|Q6ZUT3-1|FRMD7_HUMAN Isoform 1 of FERM domain-containing protein 7 OS=Homo sapiens OX=9606 GN=FRMD7 PE=1 SV=1 CANONICAL=Q6ZUT3-1" }, "locus": { "chromosome": "X", "start_pos": 132127844, "end_pos": 132077875, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000298542.9", "url": "https://www.ensembl.org/id/ENST00000298542.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000298542.3", "url": "https://www.ensembl.org/id/ENSP00000298542.3" } ] } }, { "isoform_ac": "Q6ZUT3-2", "url": "", "sequence": { "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKMDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA", "length": 699, "header": "sp|Q6ZUT3-2|FRMD7_HUMAN Isoform 2 of FERM domain-containing protein 7 OS=Homo sapiens OX=9606 GN=FRMD7 PE=1 SV=1 CANONICAL=Q6ZUT3-1" }, "locus": { "chromosome": "X", "start_pos": 132127844, "end_pos": 132077875, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464296.1", "url": "https://www.ensembl.org/id/ENST00000464296.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417996.1", "url": "https://www.ensembl.org/id/ENSP00000417996.1" } ] } }, { "isoform_ac": "X6R7S7-1", "url": "", "sequence": { "sequence": "MVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA", "length": 594, "header": "tr|X6R7S7-1|X6R7S7_HUMAN Computationally mapped isoform of FERM domain containing 7 OS=Homo sapiens OX=9606 GN=FRMD7 PE=4 SV=1 CANONICAL=Q6ZUT3-1" }, "locus": { "chromosome": "X", "start_pos": 132094063, "end_pos": 132077875, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370879.5", "url": "https://www.ensembl.org/id/ENST00000370879.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000359916.1", "url": "https://www.ensembl.org/id/ENSP00000359916.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q6ZUT3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZUT3" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Linkage analysis of two families with X-linked recessive congenital motor nystagmus.", "journal": "Journal of human genetics", "date": "2006", "authors": "Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q", "evidence": [ { "database": "RefSeq", "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122" } ], "reference": [ { "type": "PubMed", "id": "16240070", "url": "https://glygen.org/publication/PubMed/16240070" } ] }, { "title": "Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.", "journal": "Nat. Genet.", "date": "2006", "authors": "Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "17013395", "url": "https://glygen.org/publication/PubMed/17013395" } ] }, { "title": "Novel mutations in FRMD7 in X-linked congenital nystagmus.", "journal": "Hum. Mutat.", "date": "2007", "authors": "Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "17397053", "url": "https://glygen.org/publication/PubMed/17397053" } ] }, { "title": "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.", "journal": "Mol. Vis.", "date": "2007", "authors": "Zhang Q, Xiao X, Li S, Guo X", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "17768376", "url": "https://glygen.org/publication/PubMed/17768376" } ] }, { "title": "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.", "journal": "Mol. Vis.", "date": "2007", "authors": "Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, Xia J", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "17893669", "url": "https://glygen.org/publication/PubMed/17893669" } ] }, { "title": "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.", "journal": "Br. J. Ophthalmol.", "date": "2008", "authors": "Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "17962394", "url": "https://glygen.org/publication/PubMed/17962394" } ] }, { "title": "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.", "journal": "Mol. Vis.", "date": "2007", "authors": "Shiels A, Bennett TM, Prince JB, Tychsen L", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "18087240", "url": "https://glygen.org/publication/PubMed/18087240" } ] }, { "title": "A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.", "journal": "Mol. Vis.", "date": "2008", "authors": "He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, Ma X", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "18246032", "url": "https://glygen.org/publication/PubMed/18246032" } ] }, { "title": "Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.", "journal": "Mol. Vis.", "date": "2008", "authors": "Li N, Wang L, Cui L, Zhang L, Dai S, Li H, Chen X, Zhu L, Hejtmancik JF, Zhao K", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "18431453", "url": "https://glygen.org/publication/PubMed/18431453" } ] }, { "title": "The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.", "journal": "Hum. Mol. Genet.", "date": "2010", "authors": "Betts-Henderson J, Bartesaghi S, Crosier M, Lindsay S, Chen HL, Salomoni P, Gottlob I, Nicotera P", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "19892780", "url": "https://glygen.org/publication/PubMed/19892780" } ] }, { "title": "The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.", "journal": "Brain", "date": "2011", "authors": "Thomas MG, Crosier M, Lindsay S, Kumar A, Thomas S, Araki M, Talbot CJ, McLean RJ, Surendran M, Taylor K, Leroy BP, Moore AT, Hunter DG, Hertle RW, Tarpey P, Langmann A, Lindner S, Brandner M, Gottlob I", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "21303855", "url": "https://glygen.org/publication/PubMed/21303855" } ] }, { "title": "Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.", "journal": "Mol. Vis.", "date": "2011", "authors": "Li N, Wang X, Wang Y, Wang L, Ying M, Han R, Liu Y, Zhao K", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "21365021", "url": "https://glygen.org/publication/PubMed/21365021" } ] }, { "title": "Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.", "journal": "Mol. Vis.", "date": "2011", "authors": "Li Y, Pu J, Liu Z, Xu S, Jin F, Zhu L, Tian J, Luo J, Zhang B", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "22128244", "url": "https://glygen.org/publication/PubMed/22128244" } ] }, { "title": "Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.", "journal": "Eur. J. Hum. Genet.", "date": "2012", "authors": "Radhakrishna U, Ratnamala U, Deutsch S, Bartoloni L, Kuracha MR, Singh R, Banwait J, Bastola DK, Johar K, Nath SK, Antonarakis SE", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "22490987", "url": "https://glygen.org/publication/PubMed/22490987" } ] }, { "title": "A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family.", "journal": "Mol. Vis.", "date": "2013", "authors": "Liu Z, Mao S, Pu J, Ding Y, Zhang B, Ding M", "evidence": [ { "database": "UniProtKB", "id": "Q6ZUT3", "url": "https://www.uniprot.org/uniprot/Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "23946638", "url": "https://glygen.org/publication/PubMed/23946638" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZUT3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZUT3" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese 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