{ "url": "https://dantelabs.com/lt/genes/ssr4", "gene": { "slug": "ssr4", "symbol": "SSR4", "name": "signal sequence receptor subunit 4", "hgnc": "HGNC:11326", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [ "TRAPD" ], "previousSymbols": [], "ensemblId": "ENSG00000180879", "entrezId": 6748, "omim": [ "300090" ], "uniprot": [ "P51571" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 153794668, "end": 153798499, "strand": "+", "ensemblTranscript": "ENST00000370086.8", "refseqTranscript": "NM_006280.3", "ensemblProtein": "ENSP00000359103.3", "refseqProtein": "NP_006271.1", "exons": [ { "start": 153794668, "end": 153794754 }, { "start": 153796434, "end": 153796552 }, { "start": 153797458, "end": 153797532 }, { "start": 153797725, "end": 153797814 }, { "start": 153798071, "end": 153798136 }, { "start": 153798329, "end": 153798499 } ], "cds": { "start": 153794688, "end": 153798433 } }, "grch37": { "build": "GRCh37", 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"hcfc1" }, { "symbol": "TMEM187", "ensemblId": "ENSG00000177854", "biotype": "protein_coding", "start": 153972290, "end": 153983194, "strand": "+", "slug": "tmem187" }, { "symbol": "IRAK1", "ensemblId": "ENSG00000184216", "biotype": "protein_coding", "start": 154010501, "end": 154020650, "strand": "-", "slug": "irak1" }, { "symbol": "MECP2", "ensemblId": "ENSG00000169057", "biotype": "protein_coding", "start": 154021573, "end": 154137103, "strand": "-", "slug": "mecp2" }, { "symbol": "OPN1LW", "ensemblId": "ENSG00000102076", "biotype": "protein_coding", "start": 154144243, "end": 154159032, "strand": "+", "slug": "opn1lw" }, { "symbol": "OPN1MW", "ensemblId": "ENSG00000268221", "biotype": "protein_coding", "start": 154182596, "end": 154196861, "strand": "+", "slug": "opn1mw" }, { "symbol": "OPN1MW2", "ensemblId": "ENSG00000166160", "biotype": "protein_coding", "start": 154219756, "end": 154233286, "strand": "+", "slug": "opn1mw2" }, { "symbol": "OPN1MW3", "ensemblId": "ENSG00000269433", "biotype": "protein_coding", "start": 154257582, "end": 154271090, "strand": "+", "slug": "opn1mw3" }, { "symbol": "TEX28", "ensemblId": "ENSG00000278057", "biotype": "protein_coding", "start": 154271265, "end": 154295853, "strand": "-", "slug": "tex28" }, { "symbol": "TKTL1", "ensemblId": "ENSG00000007350", "biotype": "protein_coding", "start": 154295795, "end": 154330350, "strand": "+", "slug": "tktl1" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Kongenitalinės glikozilinimo sutrikimai", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Kongenitalinės glikozilinimo sutrikimai (CDG)", "genes": 98, "inheritance": null, "description": "Didelė paveldimų ligų grupė, kai cukraus grandinės (glikanai) netinkamai susidaro arba netinkamai prisijungia prie baltymų ir lipidų, dažnai pažeidžiančios smegenis, kepenis, kraujo krešėjimą, augimą ir daugelį kitų organų sistemų. Dauguma yra autosominiu recesyviniu būdu paveldimi, tačiau kai kurios yra X chromosomos susietos arba autosominiu dominantiniu būdu paveldimos.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/disorder-of-glycosylation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-periventricular-white-matter-morphology", "name": "Abnormal periventricular white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology" }, { "slug": "abnormality-of-coagulation", "name": "Abnormality of coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-coagulation" }, { "slug": "abnormality-of-the-cardiovascular-system", "name": "Abnormality of the cardiovascular system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system" }, { "slug": "abnormality-of-the-coagulation-cascade", "name": "Abnormality of the coagulation cascade", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade" }, { "slug": "abnormality-of-the-gastrointestinal-tract", "name": "Abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-gastrointestinal-tract" }, { "slug": "abnormality-of-upper-lip-vermillion", "name": "Abnormality of the red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-upper-lip-vermillion" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-septum-pellucidum", "name": "Absent septum pellucidum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-septum-pellucidum" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "horseshoe-kidney", "name": "Horseshoe kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horseshoe-kidney" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "joint-dislocation", "name": "Joint dislocation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-dislocation" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "type-i-transferrin-isoform-profile", "name": "Type I transferrin isoform profile", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/type-i-transferrin-isoform-profile" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "widely-spaced-teeth", "name": "Widely spaced teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/widely-spaced-teeth" } ], "related": [ { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/lt/genes/a4galt" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg1" }, { "slug": "alg11", "symbol": "ALG11", "name": "ALG11 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg11" }, { "slug": "alg12", "symbol": "ALG12", "name": "ALG12 alpha-1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg12" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg2" }, { "slug": "alg3", "symbol": "ALG3", "name": "ALG3 alpha-1,3- mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg3" }, { "slug": "alg6", "symbol": "ALG6", "name": "ALG6 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg6" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg9" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp6ap1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }