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mutLBSgeneDB |
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| 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 |
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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 | 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 |
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| 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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