|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for EIF2B1 |
 Gene summary |
| Basic gene Info. | Gene symbol | EIF2B1 |
| Gene name | eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa | |
| Synonyms | EIF2B|EIF2BA | |
| Cytomap | UCSC genome browser: 12q24.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001414.3, | |
| Description | eIF-2B GDP-GTP exchange factor subunit alphatranslation initiation factor eIF-2B subunit alpha | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 606686 | |
| HGNC : HGNC | ||
| HPRD : 09458 | ||
| Protein | UniProt: Q14232 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EIF2B1 | |
| BioGPS: 1967 | ||
| Pathway | NCI Pathway Interaction Database: EIF2B1 | |
| KEGG: EIF2B1 | ||
| REACTOME: EIF2B1 | ||
| Pathway Commons: EIF2B1 | ||
| Context | iHOP: EIF2B1 | |
| ligand binding site mutation search in PubMed: EIF2B1 | ||
| UCL Cancer Institute: EIF2B1 | ||
| 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:0006413 | translational initiation | 16289705 | GO:0043547 | positive regulation of GTPase activity | 11323413 | GO:0051716 | cellular response to stimulus | 8626696 |
| Top |
| Ligand binding site mutations for EIF2B1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K146 | R147Q | GBM | 1 | S131 | A129T | STAD | 1 | K234 | F233L | STAD | 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. |
| Top |
| Protein structure related information for EIF2B1 |
| 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 | K146 | R147Q | -1.0503334 | S131 | A129T | -0.90602515 | K234 | F233L | -0.54327125 |
| (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 EIF2B1 from PDB |
| Top |
| Differential gene expression and gene-gene network for EIF2B1 |
| 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) |
| Top |
| Top |
| Phenotype information for EIF2B1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1858991 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER | 11 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1847967 | Vanishing White Matter Leukodystrophy with Ovarian Failure | 4 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for EIF2B1 |
| 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. |
 |
| 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 EIF2B1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SO4 | SULFATE | 3ecs | A | K146 | SO4 | SULFATE | 3ecs | F | K146 | SO4 | SULFATE | 3ecs | A | S131 K234 | SO4 | SULFATE | 3ecs | B | S131 K234 | SO4 | SULFATE | 3ecs | C | S131 K234 | SO4 | SULFATE | 3ecs | D | S131 K234 | SO4 | SULFATE | 3ecs | E | S131 K234 | SO4 | SULFATE | 3ecs | F | S131 K234 | SO4 | SULFATE | 3ecs | G | S131 K234 | SO4 | SULFATE | 3ecs | H | S131 K234 |
| Top |
| Conservation information for LBS of EIF2B1 |
| Multiple alignments for Q14232 in multiple species |
| LBS | AA sequence | # species | Species | D121 | HTFIKDGARIL | 2 | Mus musculus, Bos taurus | D121 | HTFIKDGATIL | 1 | Homo sapiens | D121 | RLFFTHHMNIL | 1 | Caenorhabditis elegans | D121 | HAFIKDGARIL | 1 | Rattus norvegicus | D121 | VDFIADDDIIL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D121 | YPLIRDGSVIL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K120 | CHTFIKDGARI | 2 | Mus musculus, Bos taurus | K120 | CHTFIKDGATI | 1 | Homo sapiens | K120 | ARLFFTHHMNI | 1 | Caenorhabditis elegans | K120 | CHAFIKDGARI | 1 | Rattus norvegicus | K120 | GVDFIADDDII | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K120 | GYPLIRDGSVI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K146 | AVAAKKRFSVY | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | K146 | AHKSGYHLHVW | 1 | Caenorhabditis elegans | K146 | AANKFIRFRCV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K146 | AAKRHVRFKVF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K234 | VAESFKFVRLF | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | K234 | CAETIKFVREF | 1 | Caenorhabditis elegans | K234 | VTESHKFVRMF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K234 | VAESHKFVRMF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R108 | RISLSRNKIAD | 2 | Homo sapiens, Bos taurus | R108 | NVRGSRAKISK | 1 | Caenorhabditis elegans | R108 | RISLSRTKIAS | 1 | Rattus norvegicus | R108 | RISLSRNKIAN | 1 | Mus musculus | R108 | RAKKSRNKIAE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R108 | RARACRQRIAH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R132 | THAYSRVVLRV | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | R132 | THSYSKVVLET | 1 | Caenorhabditis elegans | R132 | VHGYSRAVFSL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R132 | THGFSRGVAAV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S131 | LTHAYSRVVLR | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | S131 | LTHSYSKVVLE | 1 | Caenorhabditis elegans | S131 | LVHGYSRAVFS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S131 | LTHGFSRGVAA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V133 | HAYSRVVLRVL | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | V133 | HSYSKVVLETI | 1 | Caenorhabditis elegans | V133 | HGYSRAVFSLL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V133 | HGFSRGVAAVL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |