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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for EIF2B4 |
Basic gene info. | Gene symbol | EIF2B4 |
Gene name | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | |
Synonyms | EIF-2B|EIF2B|EIF2Bdelta | |
Cytomap | UCSC genome browser: 2p23.3 | |
Genomic location | chr2 :27587218-27592919 | |
Type of gene | protein-coding | |
RefGenes | NM_001034116.1, NM_015636.3,NM_172195.3, | |
Ensembl id | ENSG00000115211 | |
Description | eIF-2B GDP-GTP exchange factor subunit deltaeukaryotic translation initiation factor 2B subunit 4 deltatranslation initiation factor eIF-2B subunit deltatranslation initiation factor eIF-2b delta subunit | |
Modification date | 20141219 | |
dbXrefs | MIM : 606687 | |
HGNC : HGNC | ||
Ensembl : ENSG00000115211 | ||
HPRD : 09459 | ||
Vega : OTTHUMG00000151927 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EIF2B4 | |
BioGPS: 8890 | ||
Gene Expression Atlas: ENSG00000115211 | ||
The Human Protein Atlas: ENSG00000115211 | ||
Pathway | NCI Pathway Interaction Database: EIF2B4 | |
KEGG: EIF2B4 | ||
REACTOME: EIF2B4 | ||
ConsensusPathDB | ||
Pathway Commons: EIF2B4 | ||
Metabolism | MetaCyc: EIF2B4 | |
HUMANCyc: EIF2B4 | ||
Regulation | Ensembl's Regulation: ENSG00000115211 | |
miRBase: chr2 :27,587,218-27,592,919 | ||
TargetScan: NM_001034116 | ||
cisRED: ENSG00000115211 | ||
Context | iHOP: EIF2B4 | |
cancer metabolism search in PubMed: EIF2B4 | ||
UCL Cancer Institute: EIF2B4 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for EIF2B4(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: EIF2B4 |
Familial Cancer Database: EIF2B4 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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REACTOME_METABOLISM_OF_PROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: EIF2B4 |
MedGen: EIF2B4 (Human Medical Genetics with Condition) | |
ClinVar: EIF2B4 | |
Phenotype | MGI: EIF2B4 (International Mouse Phenotyping Consortium) |
PhenomicDB: EIF2B4 |
Mutations for EIF2B4 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows EIF2B4 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=26) | (# total SNVs=4) |
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(# total SNVs=1) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr2:27591877-27591877 | p.S139fs*3 | 2 |
chr2:27591006-27591006 | p.S197R | 2 |
chr2:27592028-27592028 | p.R88Q | 1 |
chr2:27587405-27587405 | p.N478N | 1 |
chr2:27589993-27589993 | p.R321C | 1 |
chr2:27591303-27591303 | p.K176E | 1 |
chr2:27592325-27592325 | p.A56E | 1 |
chr2:27587423-27587423 | p.A472A | 1 |
chr2:27590037-27590037 | p.R306L | 1 |
chr2:27591568-27591568 | p.D151H | 1 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 1 | 1 | 4 |   |   |   |   | 1 |   |   | 3 |   | 3 |   |   | 1 | 5 |   | 6 |
# mutation |   | 1 | 1 | 4 |   |   |   |   | 1 |   |   | 3 |   | 3 |   |   | 1 | 6 |   | 6 |
nonsynonymous SNV |   |   | 1 | 2 |   |   |   |   | 1 |   |   | 3 |   | 3 |   |   | 1 | 5 |   | 4 |
synonymous SNV |   | 1 |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   | 2 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr2:27587423 | p.E119K,EIF2B4 | 1 |
chr2:27590906 | p.Y461C,EIF2B4 | 1 |
chr2:27592809 | p.K64N,EIF2B4 | 1 |
chr2:27587588 | p.R448R,EIF2B4 | 1 |
chr2:27590966 | p.E63E,EIF2B4 | 1 |
chr2:27587628 | p.H426Y,EIF2B4 | 1 |
chr2:27591261 | p.L24L | 1 |
chr2:27587635 | p.R341C,EIF2B4 | 1 |
chr2:27591875 | p.R326L,EIF2B4 | 1 |
chr2:27587673 | p.G308C,EIF2B4 | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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Gene Expression for EIF2B4 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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AUP1,AURKAIP1,C19orf24,ATRAID,PTRHD1,COMMD1,EDF1, EIF2B4,ENDOG,GADD45GIP1,ILKAP,MRPL53,NUDC,OST4, PREB,SNX17,SURF2,THAP3,TRAPPC12,WBP1,ZNF513 | DDRGK1,DGCR6L,DRG2,EDF1,EIF2B4,FKBP2,NFKBIL1, NT5C,NUDC,OTUD5,PIH1D1,PMVK,POLR2F,R3HCC1, NELFE,RFXANK,SUGP1,STRA13,SURF2,TCF25,UBXN1 |
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ATIC,AUP1,BCS1L,CAPN10,CCT7,CIAO1,CPSF3, DDX1,EIF2B4,ERCC3,ING5,NOL10,POLG2,PREB, PTDSS2,SMYD5,SSB,STK25,SUPT7L,TMEM150A,WDR75 | ARIH2,ARL2BP,ARMC1,C11orf73,FAM216A,CDPF1,MSANTD3, CBY1,CDKL3,DFFA,DNAJC24,EIF2B4,FAM104B,FAM92A1, FBXO9,ITGB1BP1,SPIN2B,TPD52L2,TTC8,UBE2Q2,ZNF415 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for EIF2B4 |
There's no related Drug. |
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Cross referenced IDs for EIF2B4 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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