Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Symbol | SMARCB1 |
Aliases | RDT; INI1; SNF5; Snr1; BAF47; Sfh1p; hSNFS; SNF5L1; integrase interactor 1; sucrose nonfermenting, yeast, homolog-like 1 |
Gene Product | - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
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Category | |
UniGene |
Hs.512700
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Reference Sequence |
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OMIM and SNP |
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Locus |
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Gene Ontology | |
Expression | EST (510 ESTs, 213 libraries) |
Tissue | Breadth ? |
CPM ? |
blood |  |  | bone |  |  | brain |  |  | cartilage |  |  | cervix |  |  | colon |  |  | embryo |  |  | esophagus |  |  | eye |  |  | germ cell |  |  | head and neck |  |  | heart |  |  | kidney |  |  | liver |  |  | lung |  |  | lymph node |  |  | mammary gland |  |  | muscle |  |  | nervous |  |  | oral cavity |  |  | ovary |  |  | pancreas |  |  | placenta |  |  | prostate |  |  | skin |  |  | stomach |  |  | synovium |  |  | testis |  |  | thymus |  |  | uncharacterized tissue |  |  | uterus |  |  | vascular |  |  | whole body |  |  |
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Evidence | Mutation in Kidney Neoplasms
- Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O Constitutional mutations of the hSNF5/INI1 gene predispose to a variety ofcancers. Am J Hum Genet 1999 Nov;65(5):1342-8.
- Biegel JA, Fogelgren B, Wainwright LM, Zhou JY, Bevan H, Rorke LB Germline INI1 mutation in a patient with a central nervous system atypicalteratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer 2000 May;28(1):31-7.
Other key publications related to this gene
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