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mutLBSgeneDB |
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| Gene summary for SMARCA4 |
 Gene summary |
| Basic gene Info. | Gene symbol | SMARCA4 |
| Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | |
| Synonyms | BAF190|BAF190A|BRG1|MRD16|RTPS2|SNF2|SNF2L4|SNF2LB|SWI2|hSNF2b | |
| Cytomap | UCSC genome browser: 19p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001128844.1, NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1, NM_001128849.1,NM_003072.3, | |
| Description | ATP-dependent helicase SMARCA4BRG1-associated factor 190ABRM/SWI2-related gene 1SNF2-betaSNF2-like 4brahma protein-like 1global transcription activator homologous sequencehomeotic gene regulatormitotic growth and transcription activatornuclear pr | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603254 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000127616 | ||
| HPRD : 04459 | ||
| Vega : OTTHUMG00000169272 | ||
| Protein | UniProt: P51532 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SMARCA4 | |
| BioGPS: 6597 | ||
| Pathway | NCI Pathway Interaction Database: SMARCA4 | |
| KEGG: SMARCA4 | ||
| REACTOME: SMARCA4 | ||
| Pathway Commons: SMARCA4 | ||
| Context | iHOP: SMARCA4 | |
| ligand binding site mutation search in PubMed: SMARCA4 | ||
| UCL Cancer Institute: SMARCA4 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006337 | nucleosome disassembly | 8895581 | GO:0006338 | chromatin remodeling | 10943845 | GO:0043044 | ATP-dependent chromatin remodeling | 16217013 | GO:0045892 | negative regulation of transcription, DNA-templated | 12065415 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 15774904 | GO:0051091 | positive regulation of sequence-specific DNA binding transcription factor activity | 11950834 |
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| Ligand binding site mutations for SMARCA4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V1505 | P1504L | SKCM | 1 | A1536 | A1536T | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for SMARCA4 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | V1505 | P1504L | -0.55880559 | A1536 | A1536T | -0.55325283 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for SMARCA4 from PDB |
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| Differential gene expression and gene-gene network for SMARCA4 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for SMARCA4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0262584 | Carcinoma, Small Cell | 3 | Biomarker |
| umls:C0919267 | Ovarian Neoplasms | 3 | Biomarker |
| umls:C3553249 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 | 1 | GeneticVariation |
| umls:C0006413 | Burkitt Lymphoma | 1 | Biomarker |
| umls:C0265338 | Coffin-Siris syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SMARCA4 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SMARCA4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 5BW | (2E)-1-(2-HYDROXYPHENYL)-3-[(1R,4R)-5-(PYRIDIN-2-YL)-2, 5-DIAZABICYCLO[2.2.1]HEPT-2-YL]PROP-2-EN-1-ONE | 5dkd | A | V1505 A1536 | 5BW | (2E)-1-(2-HYDROXYPHENYL)-3-[(1R,4R)-5-(PYRIDIN-2-YL)-2, 5-DIAZABICYCLO[2.2.1]HEPT-2-YL]PROP-2-EN-1-ONE | 5dkd | B | V1505 A1536 |
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| Conservation information for LBS of SMARCA4 |
| Multiple alignments for P51532 in multiple species |
| LBS | AA sequence | # species | Species |
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