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EFR3A (EFR3 homolog A)

Identity

Alias_namesEFR3 homolog A (S. cerevisiae)
Alias_symbol (synonym)KIAA0143
Other alias-
HGNC (Hugo) EFR3A
LocusID (NCBI) 23167
Atlas_Id 62751
Location 8q24.22  [Link to chromosome band 8q24]
Location_base_pair Starts at 131904088 and ends at 132013639 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EFR3A (8q24.22) / ANK1 (8p11.21)EFR3A (8q24.22) / ASAP1 (8q24.21)EFR3A (8q24.22) / EFR3A (8q24.22)
EFR3A (8q24.22) / ZFAT (8q24.22)SNTB1 (8q24.12) / EFR3A (8q24.22)VPS13B (8q22.2) / EFR3A (8q24.22)
EFR3A ASAP1EFR3A ZFAT

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)EFR3A   28970
Cards
Entrez_Gene (NCBI)EFR3A  23167  EFR3 homolog A
Aliases
GeneCards (Weizmann)EFR3A
Ensembl hg19 (Hinxton)ENSG00000132294 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132294 [Gene_View]  chr8:131904088-132013639 [Contig_View]  EFR3A [Vega]
ICGC DataPortalENSG00000132294
TCGA cBioPortalEFR3A
AceView (NCBI)EFR3A
Genatlas (Paris)EFR3A
WikiGenes23167
SOURCE (Princeton)EFR3A
Genetics Home Reference (NIH)EFR3A
Genomic and cartography
GoldenPath hg38 (UCSC)EFR3A  -     chr8:131904088-132013639 +  8q24.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFR3A  -     8q24.22   [Description]    (hg19-Feb_2009)
EnsemblEFR3A - 8q24.22 [CytoView hg19]  EFR3A - 8q24.22 [CytoView hg38]
Mapping of homologs : NCBIEFR3A [Mapview hg19]  EFR3A [Mapview hg38]
OMIM611798   
Gene and transcription
Genbank (Entrez)AK294485 AK302799 AK307433 BC037910 BC047323
RefSeq transcript (Entrez)NM_001323553 NM_001323554 NM_001323555 NM_001323556 NM_001323557 NM_001323558 NM_015137
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFR3A
Cluster EST : UnigeneHs.204564 [ NCBI ]
CGAP (NCI)Hs.204564
Alternative Splicing GalleryENSG00000132294
Gene ExpressionEFR3A [ NCBI-GEO ]   EFR3A [ EBI - ARRAY_EXPRESS ]   EFR3A [ SEEK ]   EFR3A [ MEM ]
Gene Expression Viewer (FireBrowse)EFR3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23167
GTEX Portal (Tissue expression)EFR3A
Human Protein AtlasENSG00000132294-EFR3A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14156   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14156  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14156
Splice isoforms : SwissVarQ14156
PhosPhoSitePlusQ14156
Domains : Interpro (EBI)ARM-like    ARM-type_fold   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EFR3A
DMDM Disease mutations23167
Blocks (Seattle)EFR3A
SuperfamilyQ14156
Human Protein Atlas [tissue]ENSG00000132294-EFR3A [tissue]
Peptide AtlasQ14156
HPRD17179
IPIIPI00470711   IPI00470468   IPI00952590   IPI00816614   IPI00941700   IPI00984050   
Protein Interaction databases
DIP (DOE-UCLA)Q14156
IntAct (EBI)Q14156
FunCoupENSG00000132294
BioGRIDEFR3A
STRING (EMBL)EFR3A
ZODIACEFR3A
Ontologies - Pathways
QuickGOQ14156
Ontology : AmiGOcytosol  plasma membrane  phosphatidylinositol phosphorylation  extracellular exosome  establishment of protein localization to plasma membrane  
Ontology : EGO-EBIcytosol  plasma membrane  phosphatidylinositol phosphorylation  extracellular exosome  establishment of protein localization to plasma membrane  
NDEx NetworkEFR3A
Atlas of Cancer Signalling NetworkEFR3A
Wikipedia pathwaysEFR3A
Orthology - Evolution
OrthoDB23167
GeneTree (enSembl)ENSG00000132294
Phylogenetic Trees/Animal Genes : TreeFamEFR3A
HOVERGENQ14156
HOGENOMQ14156
Homologs : HomoloGeneEFR3A
Homology/Alignments : Family Browser (UCSC)EFR3A
Gene fusions - Rearrangements
Fusion: TCGAEFR3A ASAP1
Fusion: TCGAEFR3A ZFAT
Fusion: Tumor Portal EFR3A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFR3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFR3A
dbVarEFR3A
ClinVarEFR3A
1000_GenomesEFR3A 
Exome Variant ServerEFR3A
ExAC (Exome Aggregation Consortium)ENSG00000132294
GNOMAD BrowserENSG00000132294
Genetic variants : HAPMAP23167
Genomic Variants (DGV)EFR3A [DGVbeta]
DECIPHEREFR3A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFR3A 
Mutations
ICGC Data PortalEFR3A 
TCGA Data PortalEFR3A 
Broad Tumor PortalEFR3A
OASIS PortalEFR3A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFR3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFR3A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EFR3A
DgiDB (Drug Gene Interaction Database)EFR3A
DoCM (Curated mutations)EFR3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFR3A (select a term)
intoGenEFR3A
Cancer3DEFR3A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611798   
Orphanet
MedgenEFR3A
Genetic Testing Registry EFR3A
NextProtQ14156 [Medical]
TSGene23167
GENETestsEFR3A
Target ValidationEFR3A
Huge Navigator EFR3A [HugePedia]
snp3D : Map Gene to Disease23167
BioCentury BCIQEFR3A
ClinGenEFR3A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23167
Chemical/Pharm GKB GenePA162384422
Clinical trialEFR3A
Miscellaneous
canSAR (ICR)EFR3A (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFR3A
EVEXEFR3A
GoPubMedEFR3A
iHOPEFR3A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:45:31 CET 2017

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