{ "url": "https://dantelabs.com/tr/genes/pum1", "gene": { "slug": "pum1", "symbol": "PUM1", "name": "pumilio RNA binding family member 1", "hgnc": "HGNC:14957", "summary": null, "location": "1p35.2", "locusType": "gene with protein product", "aliases": [ "PUMH1", "KIAA0099" ], "previousSymbols": [], "ensemblId": "ENSG00000134644", "entrezId": 9698, "omim": [ "607204" ], "uniprot": [ "Q14671" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 30931506, "end": 31065717, "strand": "-", "ensemblTranscript": "ENST00000426105.7", "refseqTranscript": "NM_001020658.2", "ensemblProtein": "ENSP00000391723.2", "refseqProtein": "NP_001018494.1", "exons": [ { "start": 30931506, "end": 30933342 }, { "start": 30936643, "end": 30936835 }, { "start": 30941151, "end": 30941272 }, { "start": 30941998, "end": 30942123 }, { "start": 30945346, "end": 30945483 }, { "start": 30950127, "end": 30950261 }, { "start": 30952234, "end": 30952363 }, { "start": 30953714, "end": 30953981 }, { "start": 30964674, "end": 30964910 }, { "start": 30965982, "end": 30966278 }, { "start": 30967167, "end": 30967310 }, { "start": 30968354, "end": 30968492 }, { "start": 30974651, "end": 30974802 }, { "start": 30980062, "end": 30980163 }, { "start": 30981312, "end": 30981405 }, { "start": 30992390, "end": 30992660 }, { "start": 30995054, "end": 30995220 }, { "start": 31005853, "end": 31006031 }, { "start": 31006994, "end": 31007102 }, { "start": 31028796, "end": 31028864 }, { "start": 31059204, "end": 31059577 }, { "start": 31065616, "end": 31065717 } ], "cds": { "start": 30933211, "end": 31059566 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 31404353, "end": 31538838, "strand": "-" }, "neighbourhood": { "release": "116", "start": 30498612, "end": 31498611, "genes": [ { "symbol": "", "ensemblId": "ENSG00000289710", "biotype": "protein_coding", "start": 30576655, "end": 30576825, "strand": "-" }, { "symbol": "MATN1", "ensemblId": "ENSG00000162510", "biotype": "protein_coding", "start": 30711277, "end": 30723585, "strand": "-", "slug": "matn1" }, { "symbol": "LAPTM5", "ensemblId": "ENSG00000162511", "biotype": "protein_coding", "start": 30732459, "end": 30757855, "strand": "-", "slug": "laptm5" }, { "symbol": "SDC3", "ensemblId": "ENSG00000162512", "biotype": "protein_coding", "start": 30869466, "end": 30908813, "strand": "-", "slug": "sdc3" }, { "symbol": "NKAIN1", "ensemblId": "ENSG00000084628", "biotype": "protein_coding", "start": 31179084, "end": 31239992, "strand": "-", "slug": "nkain1" }, { "symbol": "SNRNP40", "ensemblId": "ENSG00000060688", "biotype": "protein_coding", "start": 31259042, "end": 31296823, "strand": "-", "slug": "snrnp40" }, { "symbol": "ZCCHC17", "ensemblId": "ENSG00000121766", "biotype": "protein_coding", "start": 31296942, "end": 31371032, "strand": "+", "slug": "zcchc17" }, { "symbol": "FABP3", "ensemblId": "ENSG00000121769", "biotype": "protein_coding", "start": 31359583, "end": 31376850, "strand": "-", "slug": "fabp3" }, { "symbol": "SERINC2", "ensemblId": "ENSG00000168528", "biotype": "protein_coding", "start": 31409565, "end": 31434680, "strand": "+", "slug": "serinc2" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Otozomal Dominant Serebellar Ataksiler (SCA'lar ve DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Otozomal Dominant Serebellar Ataksi", "genes": 36, "inheritance": "autosomal-dominant", "description": "SCA1, SCA2, SCA3 (Machado-Joseph hastalığı), SCA6, SCA7, SCA17, SCA27B ve DRPLA dahil olmak üzere, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 ve FGF14 gibi genlerdeki tekrar genişlemeleri veya nokta varyantları nedeniyle ortaya çıkan, dominant kalıtımlı ataksiler grubu.", "management": "Genetik danışmanlık ve yakın akrabalar için semptom öncesi test, fizyoterapi ve semptom yönetimi; SCA27B gibi bazı formlar belirli ilaç tedavisine yanıt verebilir.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/autosomal-dominant-cerebellar-ataxias" }, { "slug": "epilepsy-report", "name": "Epilepsi (Tam Panel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsi", "genes": 171, "inheritance": null, "description": "Nöronal deşarjın anormal şekilde artmasıyla ortaya çıkan, geçici duyusal veya motor nörolojik işlev bozukluğu ya da psişik işlev bozukluğuyla seyreden bir beyin hastalığıdır. Bu nöbetler bilinç kaybı veya konvülsiyonlarla birlikte olabilir ya da olmayabilir.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "almond-shaped-palpebral-fissure", "name": "Almond shaped eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/almond-shaped-palpebral-fissure" }, { "slug": "appendicular-hypotonia", "name": "Appendicular hypotonia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/appendicular-hypotonia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "dilated-fourth-ventricle", "name": "Dilated fourth ventricle", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-fourth-ventricle" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "toe-syndactyly", "name": "Fused toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/toe-syndactyly" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "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": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "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": "low-hanging-columella", "name": "Low hanging columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-hanging-columella" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-middle-phalanx-of-the-5th-finger", "name": "Short middle bone of the little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-middle-phalanx-of-the-5th-finger" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-eyelashes", "name": "Sparse eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyelashes" }, { "slug": "stereotypical-hand-wringing", "name": "Stereotypical hand wringing", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stereotypical-hand-wringing" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "typical-absence-seizure", "name": "Typical absence seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/typical-absence-seizure" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/atp1a3" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 2, "url": "https://dantelabs.com/tr/genes/cacna1a" }, { "slug": "zfhx3", "symbol": "ZFHX3", "name": "zinc finger homeobox 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/zfhx3" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/tr/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/tr/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/tr/genes/adam22" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/afg3l2" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/tr/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/tr/genes/arhgef9" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }