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EFHD1 (EF-hand domain family, member D1)

Identity

Alias_namesEF hand domain containing 1
Alias_symbol (synonym)FLJ13612
Other aliasMST133
MSTP133
PP3051
SWS2
HGNC (Hugo) EFHD1
LocusID (NCBI) 80303
Atlas_Id 62750
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 233470767 and ends at 233547491 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EFHD1 (2q37.1) / ADAM12 (10q26.2)EFHD1 (2q37.1) / EIF4E2 (2q37.1)EFHD1 (2q37.1) / LEF1 (4q25)
EFHD1 (2q37.1) / OLFM3 (1p21.1)EFHD1 (2q37.1) / TRAPPC3 (1p34.3)GIGYF2 (2q37.1) / EFHD1 (2q37.1)
NFE2L1 (17q21.32) / EFHD1 (2q37.1)

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)EFHD1   29556
Cards
Entrez_Gene (NCBI)EFHD1  80303  EF-hand domain family, member D1
AliasesMST133; MSTP133; PP3051; SWS2
GeneCards (Weizmann)EFHD1
Ensembl hg19 (Hinxton)ENSG00000115468 [Gene_View]  chr2:233470767-233547491 [Contig_View]  EFHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115468 [Gene_View]  chr2:233470767-233547491 [Contig_View]  EFHD1 [Vega]
ICGC DataPortalENSG00000115468
TCGA cBioPortalEFHD1
AceView (NCBI)EFHD1
Genatlas (Paris)EFHD1
WikiGenes80303
SOURCE (Princeton)EFHD1
Genetics Home Reference (NIH)EFHD1
Genomic and cartography
GoldenPath hg19 (UCSC)EFHD1  -     chr2:233470767-233547491 +  2q37.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFHD1  -     2q37.1   [Description]    (hg38-Dec_2013)
EnsemblEFHD1 - 2q37.1 [CytoView hg19]  EFHD1 - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBIEFHD1 [Mapview hg19]  EFHD1 [Mapview hg38]
OMIM611617   
Gene and transcription
Genbank (Entrez)AB209715 AF176923 AF193044 AF218006 AK023674
RefSeq transcript (Entrez)NM_001243252 NM_001308395 NM_025202
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)EFHD1
Cluster EST : UnigeneHs.744624 [ NCBI ]
CGAP (NCI)Hs.744624
Alternative Splicing GalleryENSG00000115468
Gene ExpressionEFHD1 [ NCBI-GEO ]   EFHD1 [ EBI - ARRAY_EXPRESS ]   EFHD1 [ SEEK ]   EFHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)EFHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80303
GTEX Portal (Tissue expression)EFHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUP0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BUP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUP0
Splice isoforms : SwissVarQ9BUP0
PhosPhoSitePlusQ9BUP0
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFHD1
DMDM Disease mutations80303
Blocks (Seattle)EFHD1
SuperfamilyQ9BUP0
Human Protein AtlasENSG00000115468
Peptide AtlasQ9BUP0
HPRD13265
IPIIPI00031091   IPI00917776   IPI00915909   IPI00916914   IPI00917888   
Protein Interaction databases
DIP (DOE-UCLA)Q9BUP0
IntAct (EBI)Q9BUP0
FunCoupENSG00000115468
BioGRIDEFHD1
STRING (EMBL)EFHD1
ZODIACEFHD1
Ontologies - Pathways
QuickGOQ9BUP0
Ontology : AmiGOcalcium ion binding  mitochondrial inner membrane  neuron projection development  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  mitochondrial inner membrane  neuron projection development  extracellular exosome  
NDEx NetworkEFHD1
Atlas of Cancer Signalling NetworkEFHD1
Wikipedia pathwaysEFHD1
Orthology - Evolution
OrthoDB80303
GeneTree (enSembl)ENSG00000115468
Phylogenetic Trees/Animal Genes : TreeFamEFHD1
HOVERGENQ9BUP0
HOGENOMQ9BUP0
Homologs : HomoloGeneEFHD1
Homology/Alignments : Family Browser (UCSC)EFHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHD1
dbVarEFHD1
ClinVarEFHD1
1000_GenomesEFHD1 
Exome Variant ServerEFHD1
ExAC (Exome Aggregation Consortium)EFHD1 (select the gene name)
Genetic variants : HAPMAP80303
Genomic Variants (DGV)EFHD1 [DGVbeta]
DECIPHER (Syndromes)2:233470767-233547491  ENSG00000115468
CONAN: Copy Number AnalysisEFHD1 
Mutations
ICGC Data PortalEFHD1 
TCGA Data PortalEFHD1 
Broad Tumor PortalEFHD1
OASIS PortalEFHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFHD1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch EFHD1
DgiDB (Drug Gene Interaction Database)EFHD1
DoCM (Curated mutations)EFHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFHD1 (select a term)
intoGenEFHD1
Cancer3DEFHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611617   
Orphanet
MedgenEFHD1
Genetic Testing Registry EFHD1
NextProtQ9BUP0 [Medical]
TSGene80303
GENETestsEFHD1
Huge Navigator EFHD1 [HugePedia]
snp3D : Map Gene to Disease80303
BioCentury BCIQEFHD1
ClinGenEFHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80303
Chemical/Pharm GKB GenePA134935372
Clinical trialEFHD1
Miscellaneous
canSAR (ICR)EFHD1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFHD1
EVEXEFHD1
GoPubMedEFHD1
iHOPEFHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:36 CET 2017

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