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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: EIF2B1 (NCBI Gene ID:1967)

Gene Summary

Gene Summary

Gene Information	Gene Name: EIF2B1
	Gene ID: 1967
	Gene Symbol	EIF2B1
	Gene ID	1967
	Gene Name	eukaryotic translation initiation factor 2B subunit alpha
	Synonyms	EIF2B\|EIF2BA
	Cytomap	12q24.31
	Type of Gene	protein-coding
	Description	translation initiation factor eIF-2B subunit alphaeIF-2B GDP-GTP exchange factor subunit alphaeukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
	Modification date	20200327
	UniProtAcc	Q14232

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0008135	Translation factor activity, RNA binding
GO:0006413	Translational initiation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	EIF2B1	GO:0006413	translational initiation	16289705
Hgene	EIF2B1	GO:0050852	T cell receptor signaling pathway	8626696

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
EIF2B1	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'EIF2B1[title] AND translation [title] AND human.'

Gene	Title	PMID
EIF2B1	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000424014	124109333	124109409	Frame-shift
ENST00000424014	124110971	124111040	In-frame

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000424014	124110971	124111040	2494	692	760	305	161	183

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc	Exon skip start (AA)	Exon Skip end (AA)	Function feature start (AA)	Function feature end (AA)	Functional feature type	Functional feature desc.
Q14232	161	183	1	305	Chain	ID=PRO_0000156055;Note=Translation initiation factor eIF-2B subunit alpha
Q14232	161	183	162	222	Alternative sequence	ID=VSP_055469;Note=In isoform 2. KKMAKALCHLNVPVTVVLDAAVGYIMEKADLVIVGAEGVVENGGIINKIGTNQMAVCAKAQ->QVPFCSVMCPAIILQSKLRITVQQDQNQNVPPACQQSALPFIVPFPAFGRKITEFAAGRSI;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14232	161	183	183	183	Natural variant	ID=VAR_068450;Note=In VWM. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15776425;Dbxref=dbSNP:rs863225048,PMID:15776425
Q14232	161	183	160	169	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ECS
Q14232	161	183	170	172	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ECS
Q14232	161	183	175	178	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ECS
Q14232	161	183	180	182	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ECS
Q14232	161	183	183	186	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ECS

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
STAD	EIF2B1	1.06970835543362	0.0324882394634187
KIRP	EIF2B1	-2.14953108463177	5.24520874023438e-06
LUAD	EIF2B1	-2.39668434561352	5.70558004016916e-06
KIRC	EIF2B1	-1.83635928054145	7.43306349049898e-12

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
GBM	EIF2B1	0.407059022	0.006758086
SARC	EIF2B1	0.435463008	0.01961936

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with EIF2B1 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
UVM	Cell metabolism gene	EIF2B1	NUP107	0.829335112	2.07E-21

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
KIRP	EIF2B1	PSMA1	-1.12149722834627	0.000110303983092308
LIHC	EIF2B1	EIF2B5	-2.17335102876885	0.000112780019881286
KICH	EIF2B1	EIF2B3	2.17795043401278	0.000216901302337646
THCA	EIF2B1	EIF2B3	-2.27193247701228	0.000372452864704637
LIHC	EIF2B1	EIF2S3	-4.62530933210412	0.00154404530385922
LIHC	EIF2B1	EIF2AK4	-4.60322890059861	0.00188131470650586
LUSC	EIF2B1	EIF2AK4	1.88005113022765	0.00283162168555847
KICH	EIF2B1	EIF2S2	-1.06278646532411	0.00308787822723389
HNSC	EIF2B1	EIF2B3	-1.66956934127194	0.00459462782941955
COAD	EIF2B1	EIF2B3	-1.60183733464354	0.00938254594802858
COAD	EIF2B1	EIF2B5	-3.82949281161428	0.011966735124588
COAD	EIF2B1	EIF2B4	-1.63825654493327	0.0204286277294159
CHOL	EIF2B1	EIF2B2	-1.61211785827489	0.02734375
ESCA	EIF2B1	EIF2S3	-1.31322237574718	0.0419921875
BRCA	EIF2B1	EIF2S2	-2.57303037687825	1.70212120584918e-09
LUSC	EIF2B1	EIF2B4	-4.42561330574195	1.73490174268501e-07
PRAD	EIF2B1	EIF2B4	1.20626610203239	1.94411875335162e-07
KIRC	EIF2B1	PSMA1	-4.17168119560721	2.03930517801747e-11
LUAD	EIF2B1	EIF2B4	-1.76566297999877	3.09848396407815e-08
STAD	EIF2B1	EIF2S2	-2.13186277769467	3.17529775202275e-05
LIHC	EIF2B1	EIF2B2	-1.75683032348821	4.08414278982391e-05
LUAD	EIF2B1	EIF2B2	-3.96081365689084	4.19177862905507e-09
BRCA	EIF2B1	EIF2B3	-1.42398409637427	6.27134207487183e-10
KICH	EIF2B1	PSMA1	-1.95225949436722	7.49826431274414e-05
KICH	EIF2B1	EIF2B4	1.3794276859253	8.16583633422851e-06

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with EIF2B1

EIF2B3, PDIA4, ARHGDIA, EIF2B5, DCD, HNRNPL, MRPL4, ARL4D, EIF2S1, ADRB2, ADRA2B, ADRA2C, DCC, STK11, GCD2, EIF2B2, GCD6, EIF2B1, GORASP2, WDYHV1, RD3, EGFR, BZW2, VTI1B, STX12, FOXR2, CA14, GPR183, LUC7L, P2RX4, PTGER3, PVRL4, HNRNPA1, AP2A1, AP2A2, ARF1, CAD, EIF2B4, LYPLA2, MTAP, SERPINB3, TRMT6, MPST, SERPINB13, NTRK1, XPO1, HNRNPU, RPL10, SORT1, SYNCRIP, NOP56, SGTB, ZFC3H1, Mcm3, Rpl35, Rrbp1, EPM2A, GYPB, SIGLECL1, CLEC3A, BHLHA15, SMDT1, MCU, DLD, ESR2, MEPCE, RECQL4, KIAA1429, ATG16L1, TNFSF13B, UNC93B1, BIRC3, MED29, UBE2I, C1orf50, ATF5, TRIML2, TRIM59, PLEKHA4, MYH9, RBM47, nsp9ab, LRRC59, BRD4, COPS5, nsp9, YWHAE, IFI16, DDRGK1, ZNF385C, CLEC2B, PRM2, BTC, SYT2, BTNL9, EFNB1, RPL37, TACSTD2, C3orf18, CD226, CHCHD2, SEC62, DDX50, COMTD1, SPN, DDX54, TMEM55A, PTAFR, CD40, EXOG,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
EIF2B1	chr12	124105572	A	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105638	G	A	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105663	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105774	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105795	T	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105797	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105839	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105877	C	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105878	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105881	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105908	A	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105925	G	A	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105948	C	T	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105949	G	T	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105951	G	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124105971	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106045	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106084	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106107	T	A	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106124	T	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106154	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106254	C	T	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter\|not_specified	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B1	chr12	124106330	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124106353	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124106388	G	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124106397	T	C	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124106408	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124106441	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124107176	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124107201	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124107221	A	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124107265	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124107274	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124109334	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124109339	T	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124109340	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124109345	TTCC	T	Microsatellite	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
EIF2B1	chr12	124109346	T	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124109352	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124109371	GCA	G	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B1	chr12	124110934	G	T	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124110972	C	T	single_nucleotide_variant	Uncertain_significance	Seizures	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124110976	C	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124110980	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124110999	A	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124111062	C	A	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124111588	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124111605	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124111634	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
EIF2B1	chr12	124111643	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124111644	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124111656	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124111684	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124111697	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124111713	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124111723	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124114666	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124114757	T	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124114931	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124114943	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
EIF2B1	chr12	124114944	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124115020	A	G	single_nucleotide_variant	Benign/Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124115046	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B1	chr12	124117006	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B1	chr12	124118098	C	A	single_nucleotide_variant	Uncertain_significance	Microcephaly\|Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B1	chr12	124118174	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EIF2B1	chr12	124118189	C	T	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EIF2B1	chr12	124118195	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EIF2B1	chr12	124118195	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EIF2B1	chr12	124118239	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118248	C	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118250	T	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118254	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118268	C	T	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118287	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118297	C	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter
EIF2B1	chr12	124118312	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
EIF2B1	STAD	chr12	124106442	124106442	G	A	Missense_Mutation	p.A260V	4
EIF2B1	BRCA	chr12	124114778	124114778	T	C	Missense_Mutation	p.R103G	4
EIF2B1	ESCA	chr12	124111678	124111678	C	T	Missense_Mutation	p.R132K	3
EIF2B1	ESCA	chr12	124116905	124116905	C	G	Missense_Mutation	p.L34F	3
EIF2B1	BLCA	chr12	124109399	124109399	C	A	Nonsense_Mutation	p.E188*	3
EIF2B1	PRAD	chr12	124106408	124106408	C	T	Silent	p.P271P	3
EIF2B1	STAD	chr12	124111624	124111624	A	G	Missense_Mutation	p.V150A	2
EIF2B1	STAD	chr12	124107237	124107237	G	A	Silent	p.F233F	2
EIF2B1	ESCA	chr12	124114969	124114969	A	G	Missense_Mutation	p.I76T	2
EIF2B1	SKCM	chr12	124114956	124114956	G	A	Silent	p.S80S	2
EIF2B1	BRCA	chr12	124110991	124110991	C	G	Missense_Mutation	p.V178L	2
EIF2B1	ESCA	chr12	124111668	124111668	C	T	Silent		2
EIF2B1	SKCM	chr12	124114824	124114824	G	A	Silent	p.S87S	2
EIF2B1	ESCA	chr12	124111678	124111678	C	T	Missense_Mutation		2
EIF2B1	SKCM	chr12	124114825	124114825	G	A	Missense_Mutation	p.S87F	2
EIF2B1	CESC	chr12	124111692	124111692	A	T	Silent		2
EIF2B1	ESCA	chr12	124116905	124116905	C	G	Missense_Mutation		2
EIF2B1	SKCM	chr12	124114980	124114980	G	A	Silent	p.F72F	2
EIF2B1	SKCM	chr12	124111662	124111662	G	A	Silent	p.V137V	2
EIF2B1	ESCA	chr12	124111668	124111668	C	T	Silent	p.L135L	2
EIF2B1	STAD	chr12	124111688	124111688	C	T	Missense_Mutation	p.A129T	2
EIF2B1	LGG	chr12	124111689	124111689	G	A	Silent	p.H128H	2
EIF2B1	ESCA	chr12	124111668	124111668	C	T	Silent	p.L135	1
EIF2B1	PRAD	chr12	124106308	124106308	G	T	Missense_Mutation	p.L305M	1
EIF2B1	GBM	chr12	124111633	124111633	C	T	Missense_Mutation	p.R147Q	1
EIF2B1	LGG	chr12	124111476	124111476	T	C	Silent	p.A199A	1
EIF2B1	READ	chr12	124107223	124107223	A	G	Missense_Mutation	p.L238P	1
EIF2B1	HNSC	chr12	124107222	124107222	G	A	Missense_Mutation		1
EIF2B1	LGG	chr12	124111689	124111689	G	A	Silent		1
EIF2B1	SARC	chr12	124107224	124107224	G	T	Missense_Mutation		1
EIF2B1	HNSC	chr12	124111604	124111604	G	T	Missense_Mutation		1
EIF2B1	LIHC	chr12	124106388	124106388	G	-	Frame_Shift_Del	p.P278fs	1
EIF2B1	HNSC	chr12	124106419	124106419	C	G	Missense_Mutation		1
EIF2B1	STAD	chr12	124106441	124106441	C	T	Silent	p.A260A	1
EIF2B1	LUAD	chr12	124106443	124106443	C	A	Missense_Mutation	p.A260S	1
EIF2B1	HNSC	chr12	124107222	124107222	G	A	Missense_Mutation	p.S200F	1
EIF2B1	THCA	chr12	124111656	124111656	T	C	Silent		1
EIF2B1	LUAD	chr12	124116902	124116902	C	G	Missense_Mutation	p.K35N	1
EIF2B1	HNSC	chr12	124106419	124106419	C	G	Missense_Mutation	p.E268Q	1
EIF2B1	LUSC	chr12	124110982	124110982	C	T	Missense_Mutation	p.A181T	1
EIF2B1	HNSC	chr12	124107222	124107222	G	A	Silent	p.L238L	1
EIF2B1	CESC	chr12	124107251	124107251	C	T	Missense_Mutation		1
EIF2B1	LUSC	chr12	124115076	124115076	C	G	Missense_Mutation	p.E40D	1
EIF2B1	ESCA	chr12	124107310	124107310	T	A	Splice_Site		1
EIF2B1	KIRC	chr12	124116921	124116921	G	A	Missense_Mutation	p.T29M	1
EIF2B1	CESC	chr12	124111692	124111692	A	T	Silent	p.T127	1
EIF2B1	OV	chr12	122672352	122672352	G	A	Silent	p.D274	1
EIF2B1	SKCM	chr12	124114968	124114968	G	A	Silent	p.I76I	1
EIF2B1	KIRC	chr12	124116922	124116922	T	A	Missense_Mutation	p.T29S	1
EIF2B1	COAD	chr12	124114967	124114969	TGA	-	In_Frame_Del	p.76_77del	1
EIF2B1	PAAD	chr12	124115056	124115056	G	A	Missense_Mutation	p.A47V	1
EIF2B1	ESCA	chr12	124107310	124107310	T	A	Splice_Site	.	1
EIF2B1	SKCM	chr12	124116961	124116961	C	T	Missense_Mutation	p.E16K	1
EIF2B1	KIRC	chr12	124111564	124111564	C	G	Missense_Mutation	p.C170S	1
EIF2B1	ESCA	chr12	124107310	124107310	T	A	Splice_Site	e8-2	1
EIF2B1	GBM	chr12	124116941	124116941	T	C	Silent	p.S22S	1

Copy number variation (CNV) of EIF2B1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across EIF2B1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
79341	BRCA	TCGA-A7-A13D-01A	ABCB9	chr12	123428938	-	EIF2B1	chr12	124107308	-
97239	STAD	TCGA-BR-4366-01A	EIF2B1	chr12	124116892	-	ACSS3	chr12	81627128	+
87788	N/A	FN089530	EIF2B1	chr12	124105981	-	CPED1	chr7	120869070	-
100719	SARC	TCGA-PC-A5DN-01A	EIF2B1	chr12	124105326	-	DIABLO	chr12	122702805	-
97882	N/A	AA808854	EIF2B1	chr12	124109928	-	RAB31	chr18	9720190	-
94629	Non-Cancer	TCGA-55-6971-11A	EIF2B1	chr12	124105936	-	SFTPC	chr8	22021031	+
79341	OV	TCGA-29-1702	GTF2H3	chr12	124118419	+	EIF2B1	chr12	124115080	-
79341	SARC	TCGA-DX-A48K-01A	GTF2H3	chr12	124130108	+	EIF2B1	chr12	124109409	-
79345	BRCA	TCGA-AR-A1AI-01A	SBNO1	chr12	123849248	-	EIF2B1	chr12	124116993	-

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LIHC	EIF2B1	0.00276605119666496	0.077
SARC	EIF2B1	0.0358280143152734	0.97

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
THCA	EIF2B1	0.0381410813433593	1
LGG	EIF2B1	0.000524110461421468	0.017
OV	EIF2B1	0.00317691574686768	0.098
UCEC	EIF2B1	0.04785472700105	1
ESCA	EIF2B1	0.00204777897545032	0.066

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	6	GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
C1847967	OVARIOLEUKODYSTROPHY	1	CTD_human;ORPHANET