Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF

The SMARCA4 gene mutations involved in Coffin-Siris syndrome are germline mutations, which means that they are present in cells throughout the body. The mutations change single protein building blocks (amino acids) in or remove an amino acid from the BRG1 protein.

SMARCA4 GENIE Cases - Top Alterations SMARCA4 Mutation is an inclusion criterion in 2 clinical trials for central nervous system neuroblastoma, of which 2 are open and 0 are closed. Of the trials that contain SMARCA4 Mutation and central nervous system neuroblastoma as inclusion criteria, 1 is phase 1 (1 open) and 1 is phase 4 (1 open) [ 5 ]. Therefore, mutations of SMARCA4 represent a genetic factor leading to adverse clinical outcome in lung adenocarcinoma treated by either nonimmunotherapy or immunotherapy. Keywords: KRAS; SMARCA4 mutation; immunotherapy; lung adenocarcinoma; nonimmunotherapy; prognostics biomarker.

In affected members of 4 unrelated families with RTPS2 presenting as SCCOHT, Witkowski et al. (2014) identified 4 different germline heterozygous mutations in the SMARCA4 gene (603254.0009-603254.0012). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription regulatory region DNA binding. An important paralog of this gene is SMARCA4 . UniProtKB/Swiss-Prot Summary for SMARCA2 Gene SMARCA4 is detected as a mutational cancer driver in Head and neck squamous cell carcinoma. SMARCA4 reports in Head and neck squamous cell carcinoma (HNSC) Since not all mutation carriers have been diagnosed with cancer, the penetrance of the SMARCA4 gene appears incomplete. This has also been raised by Hasselblatt et al.

SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT.

Ensembl ID ENSG00000127616. Transcript ID ENST00000344626. Protein ID ENSP00000343896. Cancer types where is driver 15.

Two de novo missense variants in the SMARCA4 gene were identified in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014; both of these variants were later determined to be postzygotic mosaic mutations (PZMs) in Lim et al., 2017.

Deficient. 11 Feb 2019 Loss-of-function mutations inactivate SMARCA4 in approximately 10% of non- small-cell lung cancers (NSCLC) and nearly 100% of small cell 22 Feb 2021 Because germline mutations result in an increased risk of carriers SMARCB1 and SMARCA4 are tumor suppressor genes playing a critical Recently, mutations in a.

BAF190, BRG1, FLJ39786, hSNF2b, SNF2, SNF2-BETA, SNF2L4, SNF2LB, SWI2.
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Gene symbol: Chromosomal location: Gene name: Mutation total: Log in: SMARCA4: 19p13.2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin NCBI Description of SMARCA4: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes.

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) is a gene that encodes a protein that functions in the regulation of transcription via its helicase and ATPase activity. SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type.
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Indeed, the top five most cited LUAD cell lines had a mutation affecting a lung SWI/SNF subunit. SMARCA4 was the top mutated SWI/SNF gene (mutation rate =

Article Global Regulatory DNA Potentiation by SMARCA4 Propagates to Selective Gene Expression Programs via Domain-Level Remodeling John E. Lazar,1,2,3 Sandra Stehling-Sun,2,3 Vivek Nandakumar,2 Hao Wang,2 Daniel R. Chee,1,2 Nicholas P. Howard,2 2020-01-06 · Background The SWI/SNF complex is an important chromatin remodeler, commonly dysregulated in cancer, with an estimated mutation frequency of 20%. ARID1A is the most frequently mutated subunit gene. Almost nothing is known about the other familiar members of the SWI/SNF complexes, SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1), in oesophageal adenocarcinoma (EAC).

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Blueprint Genetics' SMARCA4 single gene test SMARCA4 single gene test. including the role of the specific gene in human disease, the mutation profile,

doi: 10.1038/s41594-017-0007-3. Article Global Regulatory DNA Potentiation by SMARCA4 Propagates to Selective Gene Expression Programs via Domain-Level Remodeling John E. Lazar,1,2,3 Sandra Stehling-Sun,2,3 Vivek Nandakumar,2 Hao Wang,2 Daniel R. Chee,1,2 Nicholas P. Howard,2 2020-01-06 · Background The SWI/SNF complex is an important chromatin remodeler, commonly dysregulated in cancer, with an estimated mutation frequency of 20%. ARID1A is the most frequently mutated subunit gene. Almost nothing is known about the other familiar members of the SWI/SNF complexes, SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1), in oesophageal adenocarcinoma (EAC).