mutLBSgeneDB |
Gene summary for IRF2BPL |
Gene summary |
Basic gene Info. | Gene symbol | IRF2BPL |
Gene name | interferon regulatory factor 2 binding protein-like | |
Synonyms | C14orf4|EAP1 | |
Cytomap | UCSC genome browser: 14q24.3 | |
Type of gene | protein-coding | |
RefGenes | NM_024496.3, | |
Description | enhanced at puberty 1enhanced at puberty protein 1interferon regulatory factor 2-binding protein-like | |
Modification date | 20141207 | |
dbXrefs | MIM : 611720 | |
HGNC : HGNC | ||
Ensembl : ENSG00000119669 | ||
HPRD : 10713 | ||
Vega : OTTHUMG00000171578 | ||
Protein | UniProt: Q9H1B7 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_IRF2BPL | |
BioGPS: 64207 | ||
Pathway | NCI Pathway Interaction Database: IRF2BPL | |
KEGG: IRF2BPL | ||
REACTOME: IRF2BPL | ||
Pathway Commons: IRF2BPL | ||
Context | iHOP: IRF2BPL | |
ligand binding site mutation search in PubMed: IRF2BPL | ||
UCL Cancer Institute: IRF2BPL | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 | 17627301 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 17627301 |
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Ligand binding site mutations for IRF2BPL |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C742 | R744G | LUAD | 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 IRF2BPL |
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 | C742 | R744G | -0.70028344 |
(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 IRF2BPL from PDB |
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Differential gene expression and gene-gene network for IRF2BPL |
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 IRF2BPL |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for IRF2BPL |
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 IRF2BPL 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 IRF2BPL |
Multiple alignments for Q9H1B7 in multiple species |
LBS | AA sequence | # species | Species | C715 | SGPLCCTICHE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C718 | LCCTICHERLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C730 | THFVQCPSVPS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C739 | PSHKFCFPCSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C742 | KFCFPCSRESI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C758 | TGEVYCPSGEK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C764 | PSGEKCPLVGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H736 | PSVPSHKFCFP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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