Property Summary

NCBI Gene PubMed Count 218
Grant Count 139
R01 Count 79
Funding $16,046,302.14
PubMed Score 563.41
PubTator Score 543.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
ependymoma 1.100 0.008
oligodendroglioma 1.200 0.003
psoriasis -1.900 0.000
osteosarcoma 2.347 0.000
medulloblastoma 1.400 0.000
medulloblastoma, large-cell 1.100 0.000
lung cancer 1.500 0.001
atypical teratoid/rhabdoid tumor -1.300 0.001
ovarian cancer -1.100 0.000

Synonym

Accession Q12824 O75784 O95474 Q17S11 Q38GA1 Q76N08 Q9UBH2
Symbols RDT
CSS3
INI1
SNF5
Snr1
BAF47
MRD15
RTPS1
Sfh1p
hSNFS
SNF5L1
SWNTS1
PPP1R144

Gene

PDB

5AJ1  

 GWAS Trait (1)

Gene RIF (237)

PMID Text
26520417 Reduced expression of SMARCB1 immunoreactivity was found to be highly sensitive and specific for synovial sarcoma.
26364901 Missense mutation in SMARCB1 gene is associated with Coffin-Siris phenotype, and schwannomatosis.
26350979 Macaca mulatta SMARCB1 showed 23 single nucleotide differences compared to the human ortholog and the amino acid sequence is 100% conserved between human and simian INI1.
26342709 study describes a rare case of a novel nonsense mutation in SMARCB1 that causes schwannomatosis; first report of a SMARCB1 mutation in a schwannomatosis family exhibiting (unilateral) vestibular schwannoma; results constitute a significant finding given that SMARCB1 mutations can cause both conditions via a four-hit mechanism
26342593 we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism
26261664 Case Report: SMARCB1-deficient vulvar sarcoma expressing ERG and FLI1.
26171919 Myoepithelioma-like tumors of the vulvar region deficient in SMARCB1 constitute a distinct group of tumors.
26109171 a novel INI1(+) ATRT-like subtype among Taiwanese pediatric patients
26073604 Mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex.
25754356 Identification of SMARCB1 mutations adds to the growing literature regarding the role of epigenetic control mechanisms in melanoma progression and therapeutic resistance.
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AA Sequence

MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGK      1 - 70
KTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSH     71 - 140
HLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNE    141 - 210
KLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFE    211 - 280
WDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWC    281 - 350
PLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW                                       351 - 385
//

Text Mined References (222)

PMID Year Title
26520417 2016 The diagnostic utility of reduced immunohistochemical expression of SMARCB1 in synovial sarcomas: a validation study.
26364901 2015 Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
26350979 2015 Comparative molecular genetic analysis of simian and human HIV-1 integrase interactor INI1/SMARCB1/SNF5.
26342709 2015 Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.
26342593 2016 Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
26261664 2015 A SMARCB1-deficient vulvar neoplasm with prominent myxoid stroma: report of a case showing ERG and FLI1 expression.
26171919 2015 Myoepithelioma-like Tumors of the Vulvar Region: A Distinctive Group of SMARCB1-deficient Neoplasms.
26109171 2015 Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors.
26073604 2015 The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis.
25754356 2015 Use of clinical next-generation sequencing to identify melanomas harboring SMARCB1 mutations.
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