mutLBSgeneDB |
Gene summary for ARID1B |
Gene summary |
Basic gene Info. | Gene symbol | ARID1B |
Gene name | AT rich interactive domain 1B (SWI1-like) | |
Synonyms | 6A3-5|BAF250B|BRIGHT|DAN15|ELD/OSA1|MRD12|OSA2|P250R | |
Cytomap | UCSC genome browser: 6q25.1 | |
Type of gene | protein-coding | |
RefGenes | NM_017519.2, NM_020732.3, | |
Description | ARID domain-containing protein 1BAT-rich interactive domain-containing protein 1BBRG1-associated factor 250bBRG1-binding protein ELD/OSA1ELD (eyelid)/OSA protein | |
Modification date | 20141222 | |
dbXrefs | MIM : 614556 | |
HGNC : HGNC | ||
Ensembl : ENSG00000049618 | ||
HPRD : 10660 | ||
Vega : OTTHUMG00000015890 | ||
Protein | UniProt: Q8NFD5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ARID1B | |
BioGPS: 57492 | ||
Pathway | NCI Pathway Interaction Database: ARID1B | |
KEGG: ARID1B | ||
REACTOME: ARID1B | ||
Pathway Commons: ARID1B | ||
Context | iHOP: ARID1B | |
ligand binding site mutation search in PubMed: ARID1B | ||
UCL Cancer Institute: ARID1B | ||
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 |
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Ligand binding site mutations for ARID1B |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | E1069 | E1069K | LUSC | 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 ARID1B |
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 |
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 | E1069 | E1069K | -1.4174923 |
(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 ARID1B from PDB |
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Differential gene expression and gene-gene network for ARID1B |
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 ARID1B |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0265338 | Coffin-Siris syndrome | 3 | Biomarker |
umls:C0027819 | Neuroblastoma | 1 | Biomarker |
umls:C2239176 | Carcinoma, Hepatocellular | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ARID1B |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ARID1B go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of ARID1B |
Multiple alignments for Q8NFD5 in multiple species |
LBS | AA sequence | # species | Species |
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