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mutLBSgeneDB |
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| Gene summary for ARID5B |
 Gene summary |
| Basic gene Info. | Gene symbol | ARID5B |
| Gene name | AT rich interactive domain 5B (MRF1-like) | |
| Synonyms | DESRT|MRF-2|MRF2 | |
| Cytomap | UCSC genome browser: 10q21.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001244638.1, NM_032199.2, | |
| Description | ARID domain-containing protein 5BAT-rich interactive domain-containing protein 5BMRF1-like proteinmodulator recognition factor 2 (MRF2) | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 608538 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000150347 | ||
| Vega : OTTHUMG00000018298 | ||
| Protein | UniProt: Q14865 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ARID5B | |
| BioGPS: 84159 | ||
| Pathway | NCI Pathway Interaction Database: ARID5B | |
| KEGG: ARID5B | ||
| REACTOME: ARID5B | ||
| Pathway Commons: ARID5B | ||
| Context | iHOP: ARID5B | |
| ligand binding site mutation search in PubMed: ARID5B | ||
| UCL Cancer Institute: ARID5B | ||
| 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:0000122 | negative regulation of transcription from RNA polymerase II promoter | 8649988 | GO:0051091 | positive regulation of sequence-specific DNA binding transcription factor activity | 21532585 |
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| Ligand binding site mutations for ARID5B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H397 | Y398C | BLCA | 1 | R341 | I339V | COAD | 1 | K23 | Y22F | SKCM | 1 | K23 | A24D | UCEC | 1 | R372 | R372C | 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 ARID5B |
| 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 | K23 | Y22F | -0.98958157 | R341 | I339V | -0.94982105 | K23 | A24D | -0.82256873 | R372 | R372C | -0.36720298 | H397 | Y398C | -0.07611588 |
| (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 ARID5B from PDB |
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| Differential gene expression and gene-gene network for ARID5B |
| 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 ARID5B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 6 | Biomarker, GeneticVariation |
| umls:C0003873 | Arthritis, Rheumatoid | 4 | Biomarker, GeneticVariation |
| umls:C0018213 | Graves Disease | 2 | Biomarker |
| umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ARID5B |
| 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 ARID5B 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 ARID5B |
| Multiple alignments for Q14865 in multiple species |
| LBS | AA sequence | # species | Species | C393 | TSAATCTRRHY | 3 | Homo sapiens, Gallus gallus, Mus musculus | G346 | RIPYLGFKQIN | 3 | Homo sapiens, Gallus gallus, Mus musculus | G386 | LGGNPGSTSAA | 3 | Homo sapiens, Gallus gallus, Mus musculus | H397 | TCTRRHYERLI | 3 | Homo sapiens, Gallus gallus, Mus musculus | I342 | TPIERIPYLGF | 3 | Homo sapiens, Gallus gallus, Mus musculus | K23 | PYIFYKAFQFH | 2 | Homo sapiens, Mus musculus | K23 | PYVFYRAFRFQ | 1 | Gallus gallus | K375 | ARRQWKHIYDE | 3 | Homo sapiens, Gallus gallus, Mus musculus | L345 | ERIPYLGFKQI | 3 | Homo sapiens, Gallus gallus, Mus musculus | P343 | PIERIPYLGFK | 3 | Homo sapiens, Gallus gallus, Mus musculus | R253 | LKGRPRKKKPC | 2 | Homo sapiens, Gallus gallus | R253 | LKGRPRKKKTC | 1 | Mus musculus | R341 | KTPIERIPYLG | 3 | Homo sapiens, Gallus gallus, Mus musculus | R371 | ETITARRQWKH | 3 | Homo sapiens, Gallus gallus, Mus musculus | R372 | TITARRQWKHI | 3 | Homo sapiens, Gallus gallus, Mus musculus | S389 | NPGSTSAATCT | 3 | Homo sapiens, Gallus gallus, Mus musculus | T388 | GNPGSTSAATC | 3 | Homo sapiens, Gallus gallus, Mus musculus | T392 | STSAATCTRRH | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y344 | IERIPYLGFKQ | 3 | Homo sapiens, Gallus gallus, Mus musculus |
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