mutLBSgeneDB |
Gene summary for EIF2S1 |
Gene summary |
Basic gene Info. | Gene symbol | EIF2S1 |
Gene name | eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa | |
Synonyms | EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A | |
Cytomap | UCSC genome browser: 14q23.3 | |
Type of gene | protein-coding | |
RefGenes | NM_004094.4, | |
Description | eIF-2-alphaeukaryotic translation initiation factor 2 subunit 1eukaryotic translation initiation factor 2 subunit alpha | |
Modification date | 20141207 | |
dbXrefs | MIM : 603907 | |
HGNC : HGNC | ||
Ensembl : ENSG00000134001 | ||
HPRD : 04881 | ||
Vega : OTTHUMG00000029800 | ||
Protein | UniProt: P05198 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EIF2S1 | |
BioGPS: 1965 | ||
Pathway | NCI Pathway Interaction Database: EIF2S1 | |
KEGG: EIF2S1 | ||
REACTOME: EIF2S1 | ||
Pathway Commons: EIF2S1 | ||
Context | iHOP: EIF2S1 | |
ligand binding site mutation search in PubMed: EIF2S1 | ||
UCL Cancer Institute: EIF2S1 | ||
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 |
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Ligand binding site mutations for EIF2S1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K78 | E79Q | 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. |
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Protein structure related information for EIF2S1 |
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 | K78 | E79Q | -1.6250668 |
(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 EIF2S1 from PDB |
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Differential gene expression and gene-gene network for EIF2S1 |
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 EIF2S1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0002395 | Alzheimer Disease | 3 | AlteredExpression, Biomarker, PostTranslationalModification |
umls:C0029463 | Osteosarcoma | 2 | Biomarker |
umls:C0009241 | Cognition Disorders | 1 | Biomarker |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
umls:C0027746 | Nerve Degeneration | 1 | Biomarker |
umls:C0038220 | Status Epilepticus | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for EIF2S1 |
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 EIF2S1 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 EIF2S1 |
Multiple alignments for P05198 in multiple species |
LBS | AA sequence | # species | Species | D159 | KHAVSDPS-IL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D159 | KLSIIDET-VW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D159 | KLAISNPDHVF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D159 | KQSVTDPT-VF | 1 | Drosophila melanogaster | D159 | KHAVSDPD-VL | 1 | Xenopus tropicalis | D159 | KHAVSDPA-IL | 1 | Gallus gallus | F13 | FYQHKFPEVED | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | F13 | FYENKYPEIDD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F13 | MYENRFPEVDE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F13 | FYNERYPEIED | 1 | Drosophila melanogaster | F13 | FYQHKFPEVDD | 1 | Xenopus tropicalis | H155 | YDAFKHAVSDP | 6 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | H155 | YEAFKLSIIDE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H155 | YDAFKLAISNP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H155 | YDIFKQSVTDP | 1 | Drosophila melanogaster | K78 | VIRVDKEKGYI | 6 | Homo sapiens, Drosophila melanogaster, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K78 | VLRVDKEKGYI | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K78 | VIRVDKDKGYI | 1 | Xenopus tropicalis |
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