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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 hg19 (Hinxton)ENSG00000096093 [Gene_View]  chr6:52285805-52360583 [Contig_View]  EFHC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000096093 [Gene_View]  chr6:52285805-52360583 [Contig_View]  EFHC1 [Vega]
ICGC DataPortalENSG00000096093
cBioPortalEFHC1
AceView (NCBI)EFHC1
Genatlas (Paris)EFHC1
WikiGenes114327
SOURCE (Princeton)EFHC1
Genomic and cartography
GoldenPath hg19 (UCSC)EFHC1  -     chr6:52285805-52360583 +  6p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFHC1  -     6p12.2   [Description]    (hg38-Dec_2013)
EnsemblEFHC1 - 6p12.2 [CytoView hg19]  EFHC1 - 6p12.2 [CytoView hg38]
Mapping of homologs : NCBIEFHC1 [Mapview hg19]  EFHC1 [Mapview hg38]
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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    EF-hand-dom_pair    EF_hand_dom    Uncharacterised_DM10   
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
Peptide AtlasQ5JVL4
HPRD10583
IPIIPI00018207   IPI00382418   IPI00922455   IPI00956011   
Protein Interaction databases
DIP (DOE-UCLA)Q5JVL4
IntAct (EBI)Q5JVL4
FunCoupENSG00000096093
BioGRIDEFHC1
IntegromeDBEFHC1
STRING (EMBL)EFHC1
Ontologies - Pathways
QuickGOQ5JVL4
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
DoCM (Curated mutations)EFHC1
Wikipedia pathwaysEFHC1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEFHC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHC1
dbVarEFHC1
ClinVarEFHC1
1000_GenomesEFHC1 
Exome Variant ServerEFHC1
SNP (GeneSNP Utah)EFHC1
SNP : HGBaseEFHC1
Genetic variants : HAPMAPEFHC1
Genomic VariantsEFHC1  EFHC1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000096093 
Somatic Mutations in Cancer : COSMICEFHC1 
CONAN: Copy Number AnalysisEFHC1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:52285805-52360583
Mutations and Diseases : HGMDEFHC1
OMIM254770    607631    608815   
MedgenEFHC1
NextProtQ5JVL4 [Medical]
GENETestsEFHC1
Disease Genetic AssociationEFHC1
Huge Navigator EFHC1 [HugePedia]  EFHC1 [HugeCancerGEM]
snp3D : Map Gene to Disease114327
DGIdb (Drug Gene Interaction db)EFHC1
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
GoPubMedEFHC1
iHOPEFHC1
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:19:34 CET 2014
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