Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EIF4H (eukaryotic translation initiation factor 4H)

Identity

Alias_namesWBSCR1
Williams-Beuren syndrome chromosome region 1
Alias_symbol (synonym)WSCR1
KIAA0038
Other aliaseIF-4H
HGNC (Hugo) EIF4H
LocusID (NCBI) 7458
Atlas_Id 52093
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 74174376 and ends at 74197099 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CNBP (3q21.3) / EIF4H (7q11.23)EIF4H (7q11.23) / ELN (7q11.23)EIF4H (7q11.23) / GTF2I (7q11.23)
EIF4H (7q11.23) / H2AFY (5q31.1)EIF4H (7q11.23) / PKP3 (11p15.5)RSL1D1 (16p13.13) / EIF4H (7q11.23)
EIF4H 7q11.23 / ELN 7q11.23

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EIF4H   12741
Cards
Entrez_Gene (NCBI)EIF4H  7458  eukaryotic translation initiation factor 4H
AliasesWBSCR1; WSCR1; eIF-4H
GeneCards (Weizmann)EIF4H
Ensembl hg19 (Hinxton)ENSG00000106682 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106682 [Gene_View]  chr7:74174376-74197099 [Contig_View]  EIF4H [Vega]
ICGC DataPortalENSG00000106682
TCGA cBioPortalEIF4H
AceView (NCBI)EIF4H
Genatlas (Paris)EIF4H
WikiGenes7458
SOURCE (Princeton)EIF4H
Genetics Home Reference (NIH)EIF4H
Genomic and cartography
GoldenPath hg38 (UCSC)EIF4H  -     chr7:74174376-74197099 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF4H  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblEIF4H - 7q11.23 [CytoView hg19]  EIF4H - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIEIF4H [Mapview hg19]  EIF4H [Mapview hg38]
OMIM603431   
Gene and transcription
Genbank (Entrez)AK290676 AK297651 AK314749 BC010021 BC021214
RefSeq transcript (Entrez)NM_022170 NM_031992
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF4H
Cluster EST : UnigeneHs.520943 [ NCBI ]
CGAP (NCI)Hs.520943
Alternative Splicing GalleryENSG00000106682
Gene ExpressionEIF4H [ NCBI-GEO ]   EIF4H [ EBI - ARRAY_EXPRESS ]   EIF4H [ SEEK ]   EIF4H [ MEM ]
Gene Expression Viewer (FireBrowse)EIF4H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7458
GTEX Portal (Tissue expression)EIF4H
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15056   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15056  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15056
Splice isoforms : SwissVarQ15056
PhosPhoSitePlusQ15056
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)eIF4H_RRM    Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)EIF4H
DMDM Disease mutations7458
Blocks (Seattle)EIF4H
SuperfamilyQ15056
Human Protein AtlasENSG00000106682
Peptide AtlasQ15056
HPRD11940
IPIIPI00014263   IPI00375127   
Protein Interaction databases
DIP (DOE-UCLA)Q15056
IntAct (EBI)Q15056
FunCoupENSG00000106682
BioGRIDEIF4H
STRING (EMBL)EIF4H
ZODIACEIF4H
Ontologies - Pathways
QuickGOQ15056
Ontology : AmiGOformation of translation preinitiation complex  cytoplasmic translation  RNA binding  translation initiation factor activity  helicase activity  protein binding  cytosol  polysome  translational initiation  regulation of translational initiation  translation factor activity, RNA binding  membrane  viral process  eukaryotic translation initiation factor 4F complex  sexual reproduction  RNA strand annealing activity  RNA strand-exchange activity  ribosomal small subunit binding  cadherin binding  perinuclear region of cytoplasm  developmental growth  eukaryotic translation initiation factor 4F complex assembly  
Ontology : EGO-EBIformation of translation preinitiation complex  cytoplasmic translation  RNA binding  translation initiation factor activity  helicase activity  protein binding  cytosol  polysome  translational initiation  regulation of translational initiation  translation factor activity, RNA binding  membrane  viral process  eukaryotic translation initiation factor 4F complex  sexual reproduction  RNA strand annealing activity  RNA strand-exchange activity  ribosomal small subunit binding  cadherin binding  perinuclear region of cytoplasm  developmental growth  eukaryotic translation initiation factor 4F complex assembly  
NDEx NetworkEIF4H
Atlas of Cancer Signalling NetworkEIF4H
Wikipedia pathwaysEIF4H
Orthology - Evolution
OrthoDB7458
GeneTree (enSembl)ENSG00000106682
Phylogenetic Trees/Animal Genes : TreeFamEIF4H
HOVERGENQ15056
HOGENOMQ15056
Homologs : HomoloGeneEIF4H
Homology/Alignments : Family Browser (UCSC)EIF4H
Gene fusions - Rearrangements
Fusion : MitelmanEIF4H/ELN [7q11.23/7q11.23]  
Fusion : MitelmanEIF4H/GTF2I [7q11.23/7q11.23]  [t(7;7)(q11;q11)]  
Fusion: TCGAEIF4H 7q11.23 ELN 7q11.23 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF4H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF4H
dbVarEIF4H
ClinVarEIF4H
1000_GenomesEIF4H 
Exome Variant ServerEIF4H
ExAC (Exome Aggregation Consortium)EIF4H (select the gene name)
Genetic variants : HAPMAP7458
Genomic Variants (DGV)EIF4H [DGVbeta]
DECIPHEREIF4H [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF4H 
Mutations
ICGC Data PortalEIF4H 
TCGA Data PortalEIF4H 
Broad Tumor PortalEIF4H
OASIS PortalEIF4H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF4H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF4H
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EIF4H
DgiDB (Drug Gene Interaction Database)EIF4H
DoCM (Curated mutations)EIF4H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF4H (select a term)
intoGenEIF4H
Cancer3DEIF4H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603431   
Orphanet
MedgenEIF4H
Genetic Testing Registry EIF4H
NextProtQ15056 [Medical]
TSGene7458
GENETestsEIF4H
Target ValidationEIF4H
Huge Navigator EIF4H [HugePedia]
snp3D : Map Gene to Disease7458
BioCentury BCIQEIF4H
ClinGenEIF4H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7458
Chemical/Pharm GKB GenePA162384997
Clinical trialEIF4H
Miscellaneous
canSAR (ICR)EIF4H (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF4H
EVEXEIF4H
GoPubMedEIF4H
iHOPEIF4H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:32:23 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.