{ "url": "https://dantelabs.com/tr/genes/sohlh1", "gene": { "slug": "sohlh1", "symbol": "SOHLH1", "name": "spermatogenesis and oogenesis specific basic helix-loop-helix 1", "hgnc": "HGNC:27845", "summary": null, "location": "9q34.3", "locusType": "gene with protein product", "aliases": [ "NOHLH", "TEB2", "bA100C15.3", "bHLHe80", "SPATA27" ], "previousSymbols": [ "C9orf157" ], "ensemblId": "ENSG00000165643", "entrezId": 402381, "omim": [ "610224" ], "uniprot": [ "Q5JUK2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 135693407, "end": 135699481, "strand": "-", "ensemblTranscript": "ENST00000425225.2", "refseqTranscript": "NM_001101677.2", "ensemblProtein": "ENSP00000404438.1", "refseqProtein": "NP_001095147.2", "exons": [ { "start": 135693407, "end": 135693814 }, { "start": 135694387, "end": 135694457 }, { "start": 135695050, "end": 135695263 }, { "start": 135696612, "end": 135696805 }, { "start": 135697506, "end": 135697627 }, { "start": 135698329, "end": 135698476 }, { "start": 135698995, "end": 135699126 }, { "start": 135699403, "end": 135699481 } ], "cds": { "start": 135693597, "end": 135699467 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 138585253, "end": 138591374, "strand": "-" }, "neighbourhood": { "release": "116", "start": 135196444, "end": 136196443, "genes": [ { "symbol": "PPP1R26", "ensemblId": "ENSG00000196422", "biotype": "protein_coding", "start": 135479073, "end": 135488897, "strand": "+", "slug": "ppp1r26" }, { "symbol": "PIERCE1", "ensemblId": "ENSG00000160345", "biotype": "protein_coding", "start": 135494521, "end": 135501756, "strand": "-", "slug": "pierce1" }, { "symbol": "MRPS2", "ensemblId": "ENSG00000122140", "biotype": "protein_coding", "start": 135499970, "end": 135504676, "strand": "+", "slug": "mrps2" }, { "symbol": "LCN1", "ensemblId": "ENSG00000160349", "biotype": "protein_coding", "start": 135521438, "end": 135526540, "strand": "+", "slug": "lcn1" }, { "symbol": "OBP2A", "ensemblId": "ENSG00000122136", "biotype": "protein_coding", "start": 135545504, "end": 135549969, "strand": "+", "slug": "obp2a" }, { "symbol": "PAEP", "ensemblId": "ENSG00000122133", "biotype": "protein_coding", "start": 135561750, "end": 135566955, "strand": "+", "slug": "paep" }, { "symbol": "", "ensemblId": "ENSG00000236543", "biotype": "protein_coding", "start": 135604345, "end": 135619893, "strand": "+" }, { "symbol": "GLT6D1", "ensemblId": "ENSG00000204007", "biotype": "protein_coding", "start": 135623648, "end": 135641216, "strand": "-", "slug": "glt6d1" }, { "symbol": "LCN9", "ensemblId": "ENSG00000148386", "biotype": "protein_coding", "start": 135663309, "end": 135666961, "strand": "+", "slug": "lcn9" }, { "symbol": "KCNT1", "ensemblId": "ENSG00000107147", "biotype": "protein_coding", "start": 135702173, "end": 135795508, "strand": "+", "slug": "kcnt1" }, { "symbol": "CAMSAP1", "ensemblId": "ENSG00000130559", "biotype": "protein_coding", "start": 135808487, "end": 135907591, "strand": "-", "slug": "camsap1" }, { "symbol": "UBAC1", "ensemblId": "ENSG00000130560", "biotype": "protein_coding", "start": 135924661, "end": 135961400, "strand": "-", "slug": "ubac1" }, { "symbol": "NACC2", "ensemblId": "ENSG00000148411", "biotype": "protein_coding", "start": 136006537, "end": 136095327, "strand": "-", "slug": "nacc2" }, { "symbol": "TMEM250", "ensemblId": "ENSG00000238227", "biotype": "protein_coding", "start": 136113067, "end": 136118946, "strand": "-", "slug": "tmem250" }, { "symbol": "LHX3", "ensemblId": "ENSG00000107187", "biotype": "protein_coding", "start": 136196250, "end": 136205128, "strand": "-", "slug": "lhx3" } ], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Kadın İnfertilitesi", "diseases": [ { "mondoId": "MONDO:0021124", "name": "Kadın İnfertilitesi", "genes": 37, "inheritance": null, "description": "Bir kadının gebelik oluşturma yeteneğinin azalmış olması veya tamamen bulunmaması.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/female-infertility" }, { "slug": "male-infertility", "name": "Erkek İnfertilitesi", "diseases": [ { "mondoId": "MONDO:0005372", "name": "Erkek İnfertilitesi", "genes": 41, "inheritance": null, "description": "Belirli bir süre korunmasız cinsel ilişkiye rağmen erkeğin bir yumurta hücresini döllendirememesi. Erkek steriliteti kalıcı infertilitedir.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/male-infertility" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-spermatogenesis", "name": "Abnormal sperm development", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-spermatogenesis" }, { "slug": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "decreased-serum-estradiol", "name": "Decreased serum estradiol", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-serum-estradiol" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "elevated-circulating-follicle-stimulating-hormone-level", "name": "Elevated circulating follicle stimulating hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level" }, { "slug": "elevated-circulating-luteinizing-hormone-level", "name": "Elevated circulating luteinizing hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level" }, { "slug": "increased-circulating-gonadotropin-level", "name": "Increased circulating gonadotropin level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "non-obstructive-azoospermia", "name": "Non-obstructive azoospermia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/non-obstructive-azoospermia" }, { "slug": "obstructive-azoospermia", "name": "Obstructive azoospermia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/obstructive-azoospermia" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "sertoli-cell-only-phenotype", "name": "Sertoli cell-only phenotype", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sertoli-cell-only-phenotype" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "hypoplasia-of-the-uterus", "name": "Small uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus" } ], "related": [ { "slug": "fancm", "symbol": "FANCM", "name": "FA complementation group M", "shared": 2, "url": "https://dantelabs.com/tr/genes/fancm" }, { "slug": "meiob", "symbol": "MEIOB", "name": "meiosis specific with OB-fold", "shared": 2, "url": "https://dantelabs.com/tr/genes/meiob" }, { "slug": "stag3", "symbol": "STAG3", "name": "STAG3 cohesin complex component", "shared": 2, "url": "https://dantelabs.com/tr/genes/stag3" }, { "slug": "syce1", "symbol": "SYCE1", "name": "synaptonemal complex central element protein 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/syce1" }, { "slug": "actl9", "symbol": "ACTL9", "name": "actin like 9", "shared": 1, "url": "https://dantelabs.com/tr/genes/actl9" }, { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/tr/genes/ankrd31" }, { "slug": "armc2", "symbol": "ARMC2", "name": "armadillo repeat containing 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/armc2" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/tr/genes/atm" }, { "slug": "aurkc", "symbol": "AURKC", "name": "aurora kinase C", "shared": 1, "url": "https://dantelabs.com/tr/genes/aurkc" }, { "slug": "bcorl1", "symbol": "BCORL1", "name": "BCL6 corepressor like 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/bcorl1" }, { "slug": "bmp15", "symbol": "BMP15", "name": "bone morphogenetic protein 15", "shared": 1, "url": "https://dantelabs.com/tr/genes/bmp15" }, { "slug": "bnc1", "symbol": "BNC1", "name": "basonuclin zinc finger protein 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/bnc1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }