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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