mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for IRF2BPL
Gene summary
Basic gene Info.Gene symbolIRF2BPL
Gene nameinterferon regulatory factor 2 binding protein-like
CytomapUCSC genome browser: 14q24.3
Type of geneprotein-coding
Descriptionenhanced at puberty 1enhanced at puberty protein 1interferon regulatory factor 2-binding protein-like
Modification date20141207
dbXrefs MIM : 611720
Ensembl : ENSG00000119669
HPRD : 10713
Vega : OTTHUMG00000171578
ProteinUniProt: Q9H1B7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IRF2BPL
BioGPS: 64207
PathwayNCI Pathway Interaction Database: IRF2BPL
Pathway Commons: IRF2BPL
ContextiHOP: IRF2BPL
ligand binding site mutation search in PubMed: IRF2BPL
UCL Cancer Institute: IRF2BPL
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000122negative regulation of transcription from RNA polymerase II promoter17627301
GO:0045944positive regulation of transcription from RNA polymerase II promoter17627301

Ligand binding site mutations for IRF2BPL

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of IRF2BPL and the right PPI network was created from samples without mutations in the LBS of IRF2BPL. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for IRF2BPL
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for IRF2BPL
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IRF2BPL go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of IRF2BPL
Multiple alignments for Q9H1B7 in multiple species
LBSAA sequence# speciesSpecies
C715SGPLCCTICHE3Homo sapiens, Mus musculus, Rattus norvegicus
C718LCCTICHERLE3Homo sapiens, Mus musculus, Rattus norvegicus
C730THFVQCPSVPS3Homo sapiens, Mus musculus, Rattus norvegicus
C739PSHKFCFPCSR3Homo sapiens, Mus musculus, Rattus norvegicus
C742KFCFPCSRESI3Homo sapiens, Mus musculus, Rattus norvegicus
C758TGEVYCPSGEK3Homo sapiens, Mus musculus, Rattus norvegicus
C764PSGEKCPLVGS3Homo sapiens, Mus musculus, Rattus norvegicus
H736PSVPSHKFCFP3Homo sapiens, Mus musculus, Rattus norvegicus

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