{ "url": "https://dantelabs.com/ko/genes/rest", "gene": { "slug": "rest", "symbol": "REST", "name": "RE1 silencing transcription factor", "hgnc": "HGNC:9966", "summary": null, "location": "4q12", "locusType": "gene with protein product", "aliases": [ "NRSF", "XBR" ], "previousSymbols": [ "DFNA27" ], "ensemblId": "ENSG00000084093", "entrezId": 5978, "omim": [ "600571" ], "uniprot": [ "Q13127" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 56907900, "end": 56935844, "strand": "+", "ensemblTranscript": "ENST00000309042.12", "refseqTranscript": "NM_005612.5", "ensemblProtein": "ENSP00000311816.7", "refseqProtein": "NP_005603.3", "exons": [ { "start": 56907900, "end": 56908213 }, { "start": 56910630, "end": 56911536 }, { "start": 56919787, "end": 56919870 }, { "start": 56929841, "end": 56935844 } ], "cds": { "start": 56910639, "end": 56932152 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 57774075, "end": 57802010, "strand": "+" }, "neighbourhood": { "release": "116", "start": 56421872, "end": 57421871, "genes": [ { "symbol": "PPAT", "ensemblId": "ENSG00000128059", "biotype": "protein_coding", "start": 56393362, "end": 56436038, "strand": "-", "slug": "ppat" }, { "symbol": "PAICS", "ensemblId": "ENSG00000128050", "biotype": "protein_coding", "start": 56435058, "end": 56464578, "strand": "+", "slug": "paics" }, { "symbol": "SRP72", "ensemblId": "ENSG00000174780", "biotype": "protein_coding", "start": 56467591, "end": 56503891, "strand": "+", "slug": "srp72" }, { "symbol": "ARL9", "ensemblId": "ENSG00000196503", "biotype": "protein_coding", "start": 56505209, "end": 56524959, "strand": "+", "slug": "arl9" }, { "symbol": "SPMAP2L", "ensemblId": "ENSG00000249693", "biotype": "protein_coding", "start": 56530601, "end": 56603556, "strand": "+", "slug": "spmap2l" }, { "symbol": "HOPX", "ensemblId": "ENSG00000171476", "biotype": "protein_coding", "start": 56647195, "end": 56681877, "strand": "-", "slug": "hopx" }, { "symbol": "SPINK2", "ensemblId": "ENSG00000128040", "biotype": "protein_coding", "start": 56809857, "end": 56821869, "strand": "-", "slug": "spink2" }, { "symbol": "NOA1", "ensemblId": "ENSG00000084092", "biotype": "protein_coding", "start": 56961620, "end": 56977625, "strand": "-", "slug": "noa1" }, { "symbol": "POLR2B", "ensemblId": "ENSG00000047315", "biotype": "protein_coding", "start": 56977711, "end": 57031158, "strand": "+", "slug": "polr2b" }, { "symbol": "IGFBP7", "ensemblId": "ENSG00000163453", "biotype": "protein_coding", "start": 56986181, "end": 57110921, "strand": "-", "slug": "igfbp7" } ], "truncated": false }, "reports": [ { "slug": "hereditary-gingival-fibromatosis", "name": "유전성 치은 섬유종증", "diseases": [ { "mondoId": "MONDO:0016070", "name": "유전성 치은 섬유종증", "genes": 2, "inheritance": "autosomal-dominant", "description": "SOS1 및 REST와 같은 유전자와 관련된, 서서히 진행하는 비염증성 잇몸 조직 과증식으로, 흔히 영구치가 맹출할 때 시작됩니다.", "management": "이를 알면 조기 진단과 잇몸 수술 및 교정 치료 계획에 도움이 되며, 가족에게도 알릴 수 있습니다.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/hereditary-gingival-fibromatosis" }, { "slug": "hereditary-wilms-tumour", "name": "유전성 윌름스 종양", "diseases": [ { "mondoId": "MONDO:0003321", "name": "유전성 윌름스 종양", "genes": 2, "inheritance": null, "description": "윌름스 종양(신아세포종)에 대한 유전적 감수성으로, WT1 및 REST 관련 유형을 포함합니다.", "management": "영유아기에 정기적으로 신장 초음파 검사를 받으면 종양을 조기에 발견할 수 있습니다. WT1 보인자의 경우 신장 기능 및 생식선 검사가 추가로 필요할 수 있습니다.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/hereditary-wilms-tumour" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-mass", "name": "Abdominal mass", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-mass" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "ectopic-kidney", "name": "Abnormal kidney location", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopic-kidney" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "abnormal-uterus-morphology", "name": "Abnormal uterus morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-uterus-morphology" }, { "slug": "abnormal-sternum-morphology", "name": "Abnormality of the sternum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" }, { "slug": "aniridia", "name": "Absent iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aniridia" }, { "slug": "hemihypertrophy", "name": "Asymmetric overgrowth", "systems": [ "abnormality-of-limbs", "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemihypertrophy" }, { "slug": "macroscopic-hematuria", "name": "Bloody urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macroscopic-hematuria" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "duplication-of-renal-pelvis", "name": "Duplication of renal pelvis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/duplication-of-renal-pelvis" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "gingival-fibromatosis", "name": "Gingival fibromatosis", "systems": [ "abnormality-of-head-or-neck", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gingival-fibromatosis" }, { "slug": "gingival-overgrowth", "name": "Gum enlargement", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gingival-overgrowth" }, { "slug": "hypercalcemia", "name": "High blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypercalcemia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertension" }, { "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" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "polycythemia", "name": "Increased red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polycythemia" }, { "slug": "neoplasm-of-the-liver", "name": "Liver cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-liver" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "neoplasm-of-the-lung", "name": "Lung cancer", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-lung" }, { "slug": "malaise", "name": "Malaise", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malaise" }, { "slug": "nephroblastoma", "name": "Nephroblastoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nephroblastoma" }, { "slug": "reduced-von-willebrand-factor-activity", "name": "Reduced von Willebrand factor activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-von-willebrand-factor-activity" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "microscopic-hematuria", "name": "Small amount of blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microscopic-hematuria" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "varicocele", "name": "Varicocele", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/varicocele" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "sos1", "symbol": "SOS1", "name": "SOS Ras/Rac guanine nucleotide exchange factor 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/sos1" }, { "slug": "wt1", "symbol": "WT1", "name": "WT1 transcription factor", "shared": 1, "url": "https://dantelabs.com/ko/genes/wt1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }