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EFHC1 (EF-hand domain (C-terminal) containing 1)

Identity

Other namesEJM1
dJ304B14.2
HGNC (Hugo) EFHC1
LocusID (NCBI) 114327
Location 6p12.2
Location_base_pair Starts at 52285805 and ends at 52360583 bp from pter ( according to hg19-Feb_2009)
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)EFHC1   16406
Cards
Entrez_Gene (NCBI)EFHC1  114327  EF-hand domain (C-terminal) containing 1
GeneCards (Weizmann)EFHC1
Ensembl (Hinxton)ENSG00000096093 [Gene_View]  chr6:52285805-52360583 [Contig_View]  EFHC1 [Vega]
ICGC DataPortalENSG00000096093
cBioPortalEFHC1
AceView (NCBI)EFHC1
Genatlas (Paris)EFHC1
WikiGenes114327
SOURCE (Princeton)NM_001172420 NM_018100
Genomic and cartography
GoldenPath (UCSC)EFHC1  -  6p12.2   chr6:52285805-52360583 +  6p12.2   [Description]    (hg19-Feb_2009)
EnsemblEFHC1 - 6p12.2 [CytoView]
Mapping of homologs : NCBIEFHC1 [Mapview]
OMIM254770   607631   608815   
Gene and transcription
Genbank (Entrez)AK001328 AK094609 AK225543 AK295064 AK297632
RefSeq transcript (Entrez)NM_001172420 NM_018100
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_016760 NT_007592 NW_001838981 NW_004929326
Consensus coding sequences : CCDS (NCBI)EFHC1
Cluster EST : UnigeneHs.403171 [ NCBI ]
CGAP (NCI)Hs.403171
Alternative Splicing : Fast-db (Paris)GSHG0025798
Alternative Splicing GalleryENSG00000096093
Gene ExpressionEFHC1 [ NCBI-GEO ]     EFHC1 [ SEEK ]   EFHC1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JVL4 (Uniprot)
NextProtQ5JVL4  [Medical]
With graphics : InterProQ5JVL4
Splice isoforms : SwissVarQ5JVL4 (Swissvar)
Domaine pattern : Prosite (Expaxy)DM10 (PS51336)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)DUF1126 [organisation]   EF-hand-dom_pair [organisation]   EF_hand_dom [organisation]   Uncharacterised_DM10 [organisation]  
Related proteins : CluSTrQ5JVL4
Domain families : Pfam (Sanger)DUF1126 (PF06565)   
Domain families : Pfam (NCBI)pfam06565   
Domain families : Smart (EMBL)DM10 (SM00676)  
DMDM Disease mutations114327
Blocks (Seattle)Q5JVL4
Human Protein AtlasENSG00000096093 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ5JVL4
HPRD10583
IPIIPI00018207   IPI00382418   IPI00922455   IPI00956011   
Protein Interaction databases
DIP (DOE-UCLA)Q5JVL4
IntAct (EBI)Q5JVL4
FunCoupENSG00000096093
BioGRIDEFHC1
InParanoidQ5JVL4
Interologous Interaction database Q5JVL4
IntegromeDBEFHC1
STRING (EMBL)EFHC1
Ontologies - Pathways
Ontology : AmiGOcalcium ion binding  axoneme  protein C-terminus binding  neuronal cell body  
Ontology : EGO-EBIcalcium ion binding  axoneme  protein C-terminus binding  neuronal cell body  
Protein Interaction DatabaseEFHC1
Wikipedia pathwaysEFHC1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EFHC1
snp3D : Map Gene to Disease114327
SNP (GeneSNP Utah)EFHC1
SNP : HGBaseEFHC1
Genetic variants : HAPMAPEFHC1
Exome VariantEFHC1
1000_GenomesEFHC1 
ICGC programENSG00000096093 
Somatic Mutations in Cancer : COSMICEFHC1 
CONAN: Copy Number AnalysisEFHC1 
Mutations and Diseases : HGMDEFHC1
Mutations and Diseases : intOGenEFHC1
Genomic VariantsEFHC1  EFHC1 [DGVbeta]
dbVarEFHC1
ClinVarEFHC1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM254770    607631    608815   
MedgenEFHC1
GENETestsEFHC1
Disease Genetic AssociationEFHC1
Huge Navigator EFHC1 [HugePedia]  EFHC1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneEFHC1
Homology/Alignments : Family Browser (UCSC)EFHC1
Phylogenetic Trees/Animal Genes : TreeFamEFHC1
Chemical/Protein Interactions : CTD114327
Chemical/Pharm GKB GenePA27654
Clinical trialEFHC1
Cancer Resource (Charite)ENSG00000096093
Other databases
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
CoreMineEFHC1
iHOPEFHC1
OncoSearchEFHC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:49:09 CEST 2014

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