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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: EIF2B5 (NCBI Gene ID:8893)

Gene Summary

Gene Summary

Gene Information	Gene Name: EIF2B5
	Gene ID: 8893
	Gene Symbol	EIF2B5
	Gene ID	8893
	Gene Name	eukaryotic translation initiation factor 2B subunit epsilon
	Synonyms	CACH\|CLE\|EIF-2B\|EIF2Bepsilon\|LVWM
	Cytomap	3q27.1
	Type of Gene	protein-coding
	Description	translation initiation factor eIF-2B subunit epsiloneIF-2B GDP-GTP exchange factor subunit epsiloneukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
	Modification date	20200320
	UniProtAcc	Q13144

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:0045727	Positive regulation of translation
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	EIF2B5	GO:0006413	translational initiation	16289705
Hgene	EIF2B5	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
EIF2B5	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'EIF2B5[title] AND translation [title] AND human.'

Gene	Title	PMID
EIF2B5	Expression profile of translation initiation factor eIF2B5 in diffuse large B-cell lymphoma and its correlation to clinical outcome	30190479

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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
ENST00000273783	183855685	183855863	Frame-shift
ENST00000273783	183855953	183856034	In-frame
ENST00000273783	183857867	183857945	In-frame
ENST00000273783	183858205	183858518	Frame-shift
ENST00000273783	183861229	183861353	Frame-shift

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)
ENST00000273783	183855953	183856034	2672	807	887	721	228	255
ENST00000273783	183857867	183857945	2672	888	965	721	255	281

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.
Q13144	255	281	2	721	Chain	ID=PRO_0000156073;Note=Translation initiation factor eIF-2B subunit epsilon
Q13144	228	255	2	721	Chain	ID=PRO_0000156073;Note=Translation initiation factor eIF-2B subunit epsilon
Q13144	255	281	269	269	Natural variant	ID=VAR_068461;Note=In VWM. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15776425;Dbxref=dbSNP:rs113994058,PMID:15776425
Q13144	255	281	269	269	Natural variant	ID=VAR_068462;Note=In VWM. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19158808;Dbxref=dbSNP:rs113994057,PMID:19158808
Q13144	255	281	270	270	Natural variant	ID=VAR_068463;Note=In VWM. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21484434;Dbxref=dbSNP:rs397514646,PMID:21484434
Q13144	228	255	229	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CAJ
Q13144	228	255	238	241	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CAJ
Q13144	228	255	244	246	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CAJ
Q13144	255	281	254	262	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CAJ
Q13144	228	255	254	262	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CAJ
Q13144	255	281	269	277	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CAJ

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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
LIHC	EIF2B5	-2.17335102876885	0.000112780019881286
COAD	EIF2B5	-3.82949281161428	0.011966735124588

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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
READ	EIF2B5	hsa-miR-125a-5p	97	-0.310856864654333	0.00547516642670661

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
LAML	EIF2B5	0.073254555	0.032877595

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with EIF2B5 (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
LUSC	Cell metabolism gene	EIF2B5	ABCC5	0.81616529	2.32E-133
LUSC	IUPHAR	EIF2B5	ABCC5	0.81616529	2.32E-133
UVM	Cell metabolism gene	EIF2B5	PLCD1	0.819497189	1.51E-20
UVM	Cell metabolism gene	EIF2B5	LSM3	0.820065737	1.35E-20
UVM	Cell metabolism gene	EIF2B5	MTMR14	0.82227166	8.74E-21
UVM	Cell metabolism gene	EIF2B5	HEMK1	0.869913925	1.17E-25
UVM	CGC	EIF2B5	RAF1	0.800006657	5.54E-19
UVM	Epifactor	EIF2B5	BRPF1	0.852678836	1.07E-23
UVM	Epifactor	EIF2B5	WDR82	0.857738349	3.02E-24
UVM	IUPHAR	EIF2B5	RAF1	0.800006657	5.54E-19
UVM	IUPHAR	EIF2B5	GPR153	0.813001912	5.26E-20
UVM	IUPHAR	EIF2B5	SLC41A3	0.817349842	2.29E-20
UVM	IUPHAR	EIF2B5	PLCD1	0.819497189	1.51E-20
UVM	IUPHAR	EIF2B5	BRPF1	0.852678836	1.07E-23
UVM	IUPHAR	EIF2B5	SLC25A26	0.896269751	2.88E-29
UVM	Kinase	EIF2B5	RAF1	0.800006657	5.54E-19
UVM	TF	EIF2B5	KLF15	0.809329092	1.04E-19
UVM	TF	EIF2B5	TFAP2A	0.814582964	3.90E-20
UVM	TSG	EIF2B5	TFAP2A	0.814582964	3.90E-20
UVM	TSG	EIF2B5	PLCD1	0.819497189	1.51E-20
UVM	TSG	EIF2B5	RAB7A	0.825275024	4.78E-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
KICH	EIF2B5	EIF2B3	2.17795043401278	0.000216901302337646
THCA	EIF2B5	EIF2B3	-2.27193247701228	0.000372452864704637
BRCA	EIF2B5	EIF5	-1.16704316213885	0.00107943958337404
LIHC	EIF2B5	EIF2S3	-4.62530933210412	0.00154404530385922
KICH	EIF2B5	EIF2S2	-1.06278646532411	0.00308787822723389
HNSC	EIF2B5	EIF2B3	-1.66956934127194	0.00459462782941955
COAD	EIF2B5	EIF2B3	-1.60183733464354	0.00938254594802858
COAD	EIF2B5	EIF2B4	-1.63825654493327	0.0204286277294159
CHOL	EIF2B5	EIF2B2	-1.61211785827489	0.02734375
STAD	EIF2B5	EIF2B1	1.06970835543362	0.0324882394634187
ESCA	EIF2B5	EIF2S3	-1.31322237574718	0.0419921875
BRCA	EIF2B5	EIF2S2	-2.57303037687825	1.70212120584918e-09
LUSC	EIF2B5	EIF2B4	-4.42561330574195	1.73490174268501e-07
PRAD	EIF2B5	EIF2B4	1.20626610203239	1.94411875335162e-07
LUAD	EIF2B5	EIF2B4	-1.76566297999877	3.09848396407815e-08
STAD	EIF2B5	EIF2S2	-2.13186277769467	3.17529775202275e-05
LIHC	EIF2B5	EIF2B2	-1.75683032348821	4.08414278982391e-05
LUAD	EIF2B5	EIF2B2	-3.96081365689084	4.19177862905507e-09
LIHC	EIF2B5	EIF5	-2.12060405382854	4.66164898670786e-08
KIRP	EIF2B5	EIF2B1	-2.14953108463177	5.24520874023438e-06
LUAD	EIF2B5	EIF2B1	-2.39668434561352	5.70558004016916e-06
BRCA	EIF2B5	EIF2B3	-1.42398409637427	6.27134207487183e-10
KIRC	EIF2B5	EIF2B1	-1.83635928054145	7.43306349049898e-12
KICH	EIF2B5	EIF2B4	1.3794276859253	8.16583633422851e-06

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

PPI interactors with EIF2B5

EIF2B1, EIF2B2, EIF2B3, EIF2B4, CHMP2A, APP, EGFR, VTI1B, EFNB2, STX12, COMTD1, CA14, CD68, GPR183, IGSF8, PNKD, P2RX4, OPN3, SPN, PTGER3, EIF3I, EIF3K, EIF3L, EIF4G3, NTRK1, XPO1, GYPB, TMEM206, SYT1, EPHA1, SIGLECL1, ILVBL, UXS1, FZD10, SMDT1, TRIM25, EIF3D, EXOSC4, MRPS5, NUDC, NUP43, UBA2, USMG5, DCPS, MYC, ATG16L1, GSK3B, DYRK2, DYRK1A, APEX1, CD74, P2RY6, SLC15A3, TNFSF13B, UNC93B1, Dppa3, ITFG1, STAU1, LMBR1L, STX11, PLEKHA4, E, nsp13, nsp2, nsp5, nsp9, ORF10, BCAR1, LRRC59, DDRGK1, HTRA4, WDR5, TACR3, CD226, LETMD1, CHSY1, BTNL9, ASH1L, BTC, ABCB10, GMPPA, TVP23C, CLEC4A, PEX10, CAMSAP2, MIS18BP1, ZNF865, IQCB1, B3GALT6, FAM210A, MICU1, GOLIM4, TTC3, TMEM55A, CEP78, MAP7D2, INCENP, MAP7D1, ZNF445, KIF20A, ASPM, PHLDB3, MCM10, PCDH9, MYO5C, PLD1, SEC62, STX8, TACSTD2, FAM210B, JPH1, CLEC2B, ARSF, MYO5A, GLG1, GPR17, FGF14, SYT2, TRPM7, EFNB1, MYO9B, POF1B, SLC27A4, TMEM55B, MGME1, C3orf18, KCNN4, TNFSF14, CACNG4, GMPPB, PTAFR, S100A9, S1PR4, YME1L1, CD40, TMEM192, CD70, FAM174A, EXOG, PVRL4, IVL, SGPL1, FFAR1, ATAD3B, OSBPL8, LGALS7B, ENTPD2, GPR45, TPST2, FBXW7,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
EIF2B5	chr3	183852775	C	A	single_nucleotide_variant	Benign	not_provided
EIF2B5	chr3	183852861	A	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183852971	C	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183853019	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183853021	T	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183853024	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183853057	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183853071	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
EIF2B5	chr3	183853176	G	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
EIF2B5	chr3	183853178	C	T	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853185	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853200	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853210	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853230	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853239	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853239	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853245	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853248	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853257	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853275	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853278	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853288	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853307	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853308	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853312	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183853339	T	G	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853340	T	G	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853355	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183853369	G	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
EIF2B5	chr3	183853375	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183854318	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183854391	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183854420	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183854445	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183854465	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183854465	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183854475	A	G	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183854495	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
EIF2B5	chr3	183854503	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183854522	A	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183854533	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855404	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855423	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855424	C	T	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855425	G	A	single_nucleotide_variant	Pathogenic	See_cases\|Leukoencephalopathy_with_vanishing_white_matter\|Ovarioleukodystrophy\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855426	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855436	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855448	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
EIF2B5	chr3	183855449	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855456	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855467	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855468	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855472	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855486	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855494	G	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855502	G	GAT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B5	chr3	183855504	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855537	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855540	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855552	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855555	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855555	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855599	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855602	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855680	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855719	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855724	C	T	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855725	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855762	C	T	single_nucleotide_variant	Pathogenic	Ovarioleukodystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855763	G	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855779	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855788	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855792	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855815	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855821	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855841	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183855866	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855944	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183855959	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855983	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855983	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183855998	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183856013	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183856031	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183857633	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183857859	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183857908	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183857910	G	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183857914	A	G	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183857924	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183857933	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183857942	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183857954	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858031	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858199	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858200	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858201	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858220	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858224	C	G	single_nucleotide_variant	Likely_pathogenic	See_cases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858232	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858235	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858256	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858257	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858258	G	A	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858262	C	T	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858275	A	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858282	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858286	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858287	G	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858298	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858305	C	T	single_nucleotide_variant	Pathogenic	Dystonia\|Developmental_regression\|Leukodystrophy\|Abnormal_cerebral_white_matter_morphology	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858306	G	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858327	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858328	C	G	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858337	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858367	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858372	A	G	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858376	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858377	C	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858378	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858378	G	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858392	C	G	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858392	C	T	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001587\|nonsense	SO:0001587\|nonsense
EIF2B5	chr3	183858403	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858406	C	T	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858410	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858418	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858439	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858445	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858469	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858505	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183858506	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858515	A	G	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183858526	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858527	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183858715	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183859713	G	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859715	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859720	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859721	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859723	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859749	AG	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B5	chr3	183859757	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
EIF2B5	chr3	183859764	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859765	G	A	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859771	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859774	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859777	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859786	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183859821	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859824	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859836	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183859859	G	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
EIF2B5	chr3	183859866	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183859869	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183860016	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183860017	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183860047	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860048	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860049	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860051	G	A	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860062	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860063	G	A	single_nucleotide_variant	Benign/Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860067	A	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860118	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860150	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860280	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183860284	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183860286	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183860294	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860296	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860304	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860321	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860330	C	G	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001587\|nonsense	SO:0001587\|nonsense
EIF2B5	chr3	183860331	CT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B5	chr3	183860339	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860372	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860374	T	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860375	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860385	CTG	C	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B5	chr3	183860610	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860610	GCA	CC	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B5	chr3	183860612	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860628	G	C	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860634	G	A	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860641	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860865	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860871	G	A	single_nucleotide_variant	Benign/Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860894	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860897	G	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860907	C	T	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183860908	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183860911	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861064	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861087	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861242	CA	TG	Inversion	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861243	A	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861281	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861285	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861296	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861314	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861317	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861338	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861344	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861362	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861750	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861882	C	A	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861883	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861883	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183861897	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861899	T	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861901	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861930	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861931	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861932	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861937	C	T	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861940	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861951	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861952	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861963	T	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183861973	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_vanishing_white_matter\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183861977	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862021	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862387	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862391	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183862398	T	C	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_vanishing_white_matter	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183862402	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862468	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862477	GT	G	Deletion	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EIF2B5	chr3	183862486	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862492	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862502	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862526	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862657	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862658	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862660	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862663	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EIF2B5	chr3	183862680	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EIF2B5	chr3	183862717	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EIF2B5	chr3	183862821	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B5	chr3	183862859	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B5	chr3	183862867	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B5	chr3	183862923	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B5	chr3	183862984	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EIF2B5	chr3	183863084	AAG	A	Microsatellite	Benign	Leukoencephalopathy_with_vanishing_white_matter	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant

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
EIF2B5	THCA	chr3	183856019	183856019	C	T	Silent	p.S250S	5
EIF2B5	KIRP	chr3	183861938	183861938	G	A	Missense_Mutation	p.D641N	4
EIF2B5	BRCA	chr3	183856022	183856022	C	T	Silent	p.I251	3
EIF2B5	CESC	chr3	183861243	183861243	A	G	Missense_Mutation		3
EIF2B5	HNSC	chr3	183858377	183858377	C	A	Silent	p.R339R	3
EIF2B5	PAAD	chr3	183860631	183860631	G	A	Silent	p.E537E	3
EIF2B5	THCA	chr3	183856019	183856019	C	T	Silent		3
EIF2B5	CHOL	chr3	183858010	183858010	G	A	Splice_Site		3
EIF2B5	HNSC	chr3	183855540	183855540	G	A	Silent	p.V151V	3
EIF2B5	PAAD	chr3	183855998	183855998	T	C	Silent	p.D243D	3
EIF2B5	LIHC	chr3	183855595	183855595	T	A	Splice_Site		3
EIF2B5	BRCA	chr3	183855975	183855975	G	A	Missense_Mutation	p.D236N	3
EIF2B5	PAAD	chr3	183860631	183860631	G	A	Silent		2
EIF2B5	UCEC	chr3	183855448	183855448	C	T	Nonsense_Mutation	p.R121*	2
EIF2B5	STAD	chr3	183860126	183860126	T	G	Missense_Mutation		2
EIF2B5	STAD	chr3	183858374	183858374	T	C	Missense_Mutation	p.S338P	2
EIF2B5	PAAD	chr3	183860674	183860674	G	T	Missense_Mutation		2
EIF2B5	LIHC	chr3	183854484	183854484	T	-	Frame_Shift_Del	p.F94fs	2
EIF2B5	UCEC	chr3	183855715	183855715	C	A	Missense_Mutation	p.S179Y	2
EIF2B5	BLCA	chr3	183861938	183861938	G	T	Missense_Mutation		2
EIF2B5	HNSC	chr3	183855991	183855991	G	A	Missense_Mutation	p.R241Q	2
EIF2B5	STAD	chr3	183860126	183860126	T	G	Missense_Mutation	p.D468E	2
EIF2B5	CESC	chr3	183858264	183858264	C	G	Missense_Mutation		2
EIF2B5	PAAD	chr3	183860674	183860674	G	T	Missense_Mutation	p.V552L	2
EIF2B5	UCEC	chr3	183855751	183855751	G	T	Missense_Mutation	p.S191I	2
EIF2B5	BLCA	chr3	183855953	183855953	G	A	Splice_Site		2
EIF2B5	BLCA	chr3	183858320	183858320	C	T	Missense_Mutation	p.P320S	2
EIF2B5	STAD	chr3	183857942	183857942	G	T	Missense_Mutation	p.E280D	2
EIF2B5	CESC	chr3	183858264	183858264	C	G	Missense_Mutation	p.S301C	2
EIF2B5	HNSC	chr3	183861986	183861986	G	A	Missense_Mutation	p.E657K	2
EIF2B5	UCEC	chr3	183858264	183858264	C	T	Missense_Mutation	p.S301F	2
EIF2B5	STAD	chr3	183854437	183854437	A	G	Missense_Mutation	p.Y78C	2
EIF2B5	UCEC	chr3	183859757	183859757	C	T	Nonsense_Mutation	p.R401*	2
EIF2B5	STAD	chr3	183860111	183860111	C	T	Silent	p.G463G	2
EIF2B5	ESCA	chr3	183855472	183855472	C	T	Nonsense_Mutation	p.R129*	2
EIF2B5	SKCM	chr3	183855532	183855532	C	T	Missense_Mutation	p.L149F	2
EIF2B5	STAD	chr3	183861930	183861930	G	A	Missense_Mutation	p.R638H	2
EIF2B5	ESCA	chr3	183862446	183862446	G	T	Missense_Mutation	p.S686I	2
EIF2B5	STAD	chr3	183861999	183861999	T	C	Missense_Mutation	p.I661T	2
EIF2B5	STAD	chr3	183859721	183859721	G	A	Missense_Mutation	p.V389M	2
EIF2B5	BRCA	chr3	183857942	183857942	G	A	Silent	p.E280	2
EIF2B5	STAD	chr3	183854515	183854515	A	C	Missense_Mutation	p.E104A	2
EIF2B5	STAD	chr3	183856022	183856022	C	A	Silent	p.I251I	2
EIF2B5	BLCA	chr3	183860565	183860565	A	C	Splice_Site		1
EIF2B5	GBM	chr3	184021749	184021749	T	C	Silent		1
EIF2B5	HNSC	chr3	183858347	183858347	G	A	Missense_Mutation	p.D329N	1
EIF2B5	LUSC	chr3	183859720	183859720	C	T	Silent	p.N388N	1
EIF2B5	SKCM	chr3	183859858	183859858	G	A	Splice_Site	p.Q434_splice	1
EIF2B5	STAD	chr3	183858392	183858392	C	T	Nonsense_Mutation	p.R344X	1
EIF2B5	HNSC	chr3	183861984	183861984	A	C	Missense_Mutation		1
EIF2B5	LGG	chr3	183862417	183862417	G	T	Silent		1
EIF2B5	LIHC	chr3	183855595	183855595	T	A	Splice_Site	.	1
EIF2B5	SARC	chr3	184101126	184101126	G	C	Missense_Mutation		1
EIF2B5	BLCA	chr3	183858320	183858320	C	T	Missense_Mutation		1
EIF2B5	COAD	chr3	183860047	183860047	C	T	Missense_Mutation	p.T442M	1
EIF2B5	BLCA	chr3	183854514	183854514	G	T	Nonsense_Mutation	p.E104*	1
EIF2B5	GBM	chr3	184009860	184009860	C	T	Missense_Mutation		1
EIF2B5	HNSC	chr3	183861984	183861984	A	C	Missense_Mutation	p.H656P	1
EIF2B5	LUSC	chr3	183855722	183855722	G	A	Missense_Mutation	p.M181I	1
EIF2B5	HNSC	chr3	183859730	183859730	G	C	Missense_Mutation	p.D392H	1
EIF2B5	LGG	chr3	184003274	184003274	A	G	Missense_Mutation		1
EIF2B5	SARC	chr3	183994691	183994691	G	T	Missense_Mutation		1
EIF2B5	COAD	chr3	183862711	183862711	G	A	Missense_Mutation	p.E716K	1
EIF2B5	BLCA	chr3	183859808	183859808	G	C	Missense_Mutation	p.E418Q	1
EIF2B5	GBM	chr3	183907351	183907351	C	A	Missense_Mutation		1
EIF2B5	OV	chr3	185343073	185343073	C	T	Nonsense_Mutation		1
EIF2B5	STAD	chr3	183858392	183858392	C	T	Nonsense_Mutation	p.R344*	1
EIF2B5	LGG	chr3	184020270	184020270	A	C	Missense_Mutation		1
EIF2B5	LIHC	chr3	183855703	183855703	A	-	Frame_Shift_Del	p.E175fs	1
EIF2B5	SARC	chr3	183906580	183906580	G	C	Missense_Mutation		1
EIF2B5	DLBC	chr3	183855505	183855505	G	T	Missense_Mutation	p.A140S	1
EIF2B5	HNSC	chr3	183858213	183858213	G	T	Missense_Mutation		1
EIF2B5	KIRC	chr3	183858287	183858287	G	A	Missense_Mutation	p.V309I	1
EIF2B5	OV	chr3	183860606	183860606	G	C	Missense_Mutation	p.S529T	1
EIF2B5	STAD	chr3	183853261	183853261	G	-	Frame_Shift_Del	p.G30fs	1
EIF2B5	LGG	chr3	184008969	184008969	C	T	Missense_Mutation		1
EIF2B5	DLBC	chr3	183853228	183853228	C	T	Missense_Mutation	p.R19C	1
EIF2B5	LIHC	chr3	183855821	183855821	T	-	Frame_Shift_Del	p.H214fs	1
EIF2B5	SARC	chr3	183909015	183909015	C	T	Missense_Mutation		1
EIF2B5	BLCA	chr3	183858361	183858361	G	C	Missense_Mutation		1
EIF2B5	BLCA	chr3	183858361	183858361	G	C	Missense_Mutation	p.Q333H	1
EIF2B5	HNSC	chr3	183855991	183855991	G	A	Missense_Mutation		1
EIF2B5	KIRC	chr3	183859715	183859715	G	A	Missense_Mutation	p.D387N	1
EIF2B5	OV	chr3	183861929	183861929	C	T	Missense_Mutation	p.R638C	1
EIF2B5	LIHC	chr3	183857939	183857939	T	C	Silent		1
EIF2B5	BLCA	chr3	183862399	183862399	C	T	Silent		1
EIF2B5	ESCA	chr3	183854553	183854553	T	-	RNA	NULL	1
EIF2B5	LIHC	chr3	183861293	183861293	C	-	Frame_Shift_Del	p.F603fs	1
EIF2B5	SARC	chr3	184009139	184009139	A	C	Missense_Mutation		1
EIF2B5	SARC	chr3	184009904	184009904	C	T	Missense_Mutation		1
EIF2B5	BLCA	chr3	183862399	183862399	C	T	Silent	p.F670F	1
EIF2B5	HNSC	chr3	183861986	183861986	G	A	Missense_Mutation		1
EIF2B5	OV	chr3	185342721	185342721	G	C	Silent	p.V435	1
EIF2B5	COAD	chr3	183855693	183855693	C	T	Missense_Mutation	p.R172W	1
EIF2B5	LIHC	chr3	183855584	183855584	A	G	Missense_Mutation		1
EIF2B5	PAAD	chr3	183860674	183860674	G	T	Splice_Site	p.V552_splice	1
EIF2B5	BLCA	chr3	183855689	183855689	G	C	Missense_Mutation		1
EIF2B5	LIHC	chr3	183859852	183859852	T	-	Frame_Shift_Del	p.T432fs	1
EIF2B5	SARC	chr3	183975449	183975449	G	T	Nonsense_Mutation		1
EIF2B5	BLCA	chr3	183855689	183855689	G	C	Missense_Mutation	p.L170F	1
EIF2B5	HNSC	chr3	183855540	183855540	G	A	Silent		1
EIF2B5	LGG	chr3	183855492	183855492	C	T	Silent	p.L135L	1
EIF2B5	OV	chr3	185340999	185340999	C	T	Missense_Mutation	p.R315C	1
EIF2B5	PAAD	chr3	183854501	183854501	T	A	Silent	p.A99A	1
EIF2B5	THYM	chr3	183857871	183857871	G	A	Missense_Mutation	p.A257T	1
EIF2B5	COAD	chr3	183857922	183857922	C	T	Nonsense_Mutation	p.R274X	1
EIF2B5	LIHC	chr3	183862407	183862407	T	C	Missense_Mutation		1
EIF2B5	BLCA	chr3	183862433	183862433	C	G	Missense_Mutation		1
EIF2B5	LIHC	chr3	183853181	183853181	C	-	Frame_Shift_Del	p.A3fs	1
EIF2B5	SARC	chr3	184002758	184002758	C	T	Missense_Mutation		1
EIF2B5	SKCM	chr3	183859858	183859858	G	A	Silent	p.Q434Q	1
EIF2B5	BLCA	chr3	183862433	183862433	C	G	Missense_Mutation	p.L682V	1
EIF2B5	HNSC	chr3	183860030	183860030	C	A	Silent		1
EIF2B5	LGG	chr3	183905481	183905481	C	T	Silent		1
EIF2B5	OV	chr3	185340951	185340951	C	T	Missense_Mutation	p.R299C	1
EIF2B5	PRAD	chr3	183862680	183862680	G	T	Missense_Mutation	p.R705S	1
EIF2B5	THYM	chr3	183905946	183905946	C	T	Missense_Mutation		1
EIF2B5	ACC	chr3	183853220	183853220	C	T	Missense_Mutation	p.A16V	1
EIF2B5	COAD	chr3	183860336	183860336	G	C	Missense_Mutation	p.W497C	1
EIF2B5	BLCA	chr3	183860626	183860626	G	A	Missense_Mutation	p.E536K	1
EIF2B5	ESCA	chr3	183862446	183862446	G	T	Missense_Mutation		1
EIF2B5	LIHC	chr3	183854473	183854473	A	-	Frame_Shift_Del	p.E90fs	1
EIF2B5	SARC	chr3	183910980	183910980	G	A	Missense_Mutation		1
EIF2B5	SKCM	chr3	183858487	183858487	C	A	Silent	p.T375T	1
EIF2B5	BLCA	chr3	183860565	183860565	A	C	Splice_Site	p.G516_splice	1
EIF2B5	HNSC	chr3	183858377	183858377	C	A	Silent		1
EIF2B5	LGG	chr3	184026613	184026613	C	A	Missense_Mutation		1
EIF2B5	OV	chr3	183857889	183857889	A	G	Missense_Mutation	p.N263D	1
EIF2B5	LIHC	chr3	183859732	183859732	C	T	Silent		1
EIF2B5	READ	chr3	183854482	183854482	T	C	Missense_Mutation	p.V93A	1
EIF2B5	UCEC	chr3	183861932	183861932	G	A	Missense_Mutation	p.A639T	1
EIF2B5	BLCA	chr3	183858504	183858504	C	G	Missense_Mutation		1
EIF2B5	COAD	chr3	183861243	183861243	A	G	Missense_Mutation	p.I587V	1
EIF2B5	BLCA	chr3	183860370	183860370	G	T	Nonsense_Mutation	p.E509*	1
EIF2B5	ESCA	chr3	183855472	183855472	C	T	Nonsense_Mutation	p.R129X	1
EIF2B5	LUSC	chr3	183858308	183858308	C	T	Nonsense_Mutation	p.R316*	1
EIF2B5	SKCM	chr3	183860391	183860391	G	A	Splice_Site	p.G516_splice	1
EIF2B5	HNSC	chr3	183859730	183859730	G	C	Missense_Mutation		1
EIF2B5	LGG	chr3	184099582	184099582	G	A	Missense_Mutation		1
EIF2B5	OV	chr3	183860567	183860567	G	A	Missense_Mutation	p.G516E	1
EIF2B5	LIHC	chr3	183860127	183860127	T	C	Missense_Mutation		1
EIF2B5	READ	chr3	183859765	183859765	G	A	Silent	p.A403A	1
EIF2B5	UCEC	chr3	183859839	183859839	G	T	Missense_Mutation	p.R428L	1
EIF2B5	BLCA	chr3	183860626	183860626	G	A	Missense_Mutation		1
EIF2B5	COAD	chr3	183861952	183861952	G	A	Silent	p.A645A	1
EIF2B5	BLCA	chr3	183858504	183858504	C	G	Missense_Mutation	p.P381R	1
EIF2B5	ESCA	chr3	183858257	183858257	C	T	Missense_Mutation	p.R299C	1
EIF2B5	LUSC	chr3	183860854	183860854	G	A	Missense_Mutation	p.V557I	1
EIF2B5	SKCM	chr3	183860885	183860885	A	T	Missense_Mutation	p.E567V	1
EIF2B5	HNSC	chr3	183858347	183858347	G	A	Missense_Mutation		1
EIF2B5	LGG	chr3	184106746	184106746	G	T	Missense_Mutation		1
EIF2B5	PAAD	chr3	183855998	183855998	T	C	Silent		1
EIF2B5	LIHC	chr3	183860859	183860859	A	T	Missense_Mutation		1
EIF2B5	SARC	chr3	183855419	183855419	G	T	Missense_Mutation		1
EIF2B5	UCEC	chr3	183861242	183861242	C	T	Silent	p.N586N	1
EIF2B5	BLCA	chr3	183859808	183859808	G	C	Missense_Mutation		1
EIF2B5	COAD	chr3	183858411	183858411	T	C	Missense_Mutation	p.L350P	1

Copy number variation (CNV) of EIF2B5
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across EIF2B5
* 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
84404	N/A	BM011896	CCNY	chr10	35652313	+	EIF2B5	chr3	183858403	+
103224	N/A	CB050578	EIF2B5	chr3	183854764	+	RASGRF1	chr15	79299915	-
99752	Non-Cancer	61N	EIF2B5	chr3	183859858	+	WASL	chr7	123324634	-
84404	LUSC	TCGA-63-A5MP	LSG1	chr3	194371844	-	EIF2B5	chr3	183862672	+
84404	LUSC	TCGA-63-A5MP-01A	LSG1	chr3	194371619	-	EIF2B5	chr3	183862672	+
84404	N/A	CB050577	SGCZ	chr8	14028654	-	EIF2B5	chr3	183854764	-
84406	GBM	TCGA-14-1402-02A	SNAP23	chr15	42805645	+	EIF2B5	chr3	183859713	+

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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	EIF2B5	0.000536696004449748	0.014
GBM	EIF2B5	0.0196061790118154	0.51
STAD	EIF2B5	0.0244033403733197	0.61
HNSC	EIF2B5	1.85306688515124e-05	0.00052

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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	EIF2B5	0.0233454080350657	0.7
KIRP	EIF2B5	0.0451818078411113	1
BRCA	EIF2B5	0.00433519651592153	0.14
PAAD	EIF2B5	0.0413775848690731	1
OV	EIF2B5	0.0399098854160546	1
UCEC	EIF2B5	0.00117831739839852	0.039
ESCA	EIF2B5	0.026387002603414	0.77
MESO	EIF2B5	0.0178860061781072	0.55

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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	8	GENOMICS_ENGLAND;ORPHANET;UNIPROT
C1847967	OVARIOLEUKODYSTROPHY	2	CTD_human;ORPHANET
C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
C0338656	Impaired cognition	1	GENOMICS_ENGLAND
C0393525	Progressive cerebellar ataxia	1	GENOMICS_ENGLAND