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EFHC1 (EF-hand domain containing 1)

Identity

Alias_namesEJM1
EJM
epilepsy, juvenile myoclonic 1
EF-hand domain (C-terminal) containing 1
Alias_symbol (synonym)FLJ10466
Other aliasdJ304B14.2
HGNC (Hugo) EFHC1
LocusID (NCBI) 114327
Atlas_Id 50220
Location 6p12.2  [Link to chromosome band 6p12]
Location_base_pair Starts at 52421007 and ends at 52495785 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		EFHC1 (6p12.2) / ADGRL3 (4q13.1)EFHC1 (6p12.2) / B3GAT1 (11q25)EFHC1 (6p12.2) / PRCC (1q23.1)
EFHC1 (6p12.2) / PTPN23 (3p21.31)EFHC1 (6p12.2) / SORBS3 (8p21.3)EFHC1 (6p12.2) / TCEAL4 (Xq22.2)
EFHC1 (6p12.2) / TMEM164 (Xq23)HNRNPH1 (5q35.3) / EFHC1 (6p12.2)EFHC1 6p12.2 LPHN3

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 containing 1
AliasesEJM1; dJ304B14.2
GeneCards (Weizmann)EFHC1
Ensembl hg19 (Hinxton)ENSG00000096093 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000096093 [Gene_View]  chr6:52421007-52495785 [Contig_View]  EFHC1 [Vega]
ICGC DataPortalENSG00000096093
TCGA cBioPortalEFHC1
AceView (NCBI)EFHC1
Genatlas (Paris)EFHC1
WikiGenes114327
SOURCE (Princeton)EFHC1
Genetics Home Reference (NIH)EFHC1
Genomic and cartography
GoldenPath hg38 (UCSC)EFHC1  -     chr6:52421007-52495785 +  6p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFHC1  -     6p12.2   [Description]    (hg19-Feb_2009)
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)
Consensus coding sequences : CCDS (NCBI)EFHC1
Cluster EST : UnigeneHs.403171 [ NCBI ]
CGAP (NCI)Hs.403171
Alternative Splicing GalleryENSG00000096093
Gene ExpressionEFHC1 [ NCBI-GEO ]   EFHC1 [ EBI - ARRAY_EXPRESS ]   EFHC1 [ SEEK ]   EFHC1 [ MEM ]
Gene Expression Viewer (FireBrowse)EFHC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114327
GTEX Portal (Tissue expression)EFHC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JVL4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JVL4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JVL4
Splice isoforms : SwissVarQ5JVL4
PhosPhoSitePlusQ5JVL4
Domaine pattern : Prosite (Expaxy)DM10 (PS51336)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)DUF1126    EF-hand-dom_pair    EF_hand_dom    Uncharacterised_DM10   
Domain families : Pfam (Sanger)DUF1126 (PF06565)   
Domain families : Pfam (NCBI)pfam06565   
Domain families : Smart (EMBL)DM10 (SM00676)  
Conserved Domain (NCBI)EFHC1
DMDM Disease mutations114327
Blocks (Seattle)EFHC1
SuperfamilyQ5JVL4
Human Protein AtlasENSG00000096093
Peptide AtlasQ5JVL4
HPRD10583
IPIIPI00018207   IPI00382418   IPI00922455   IPI00956011   
Protein Interaction databases
DIP (DOE-UCLA)Q5JVL4
IntAct (EBI)Q5JVL4
FunCoupENSG00000096093
BioGRIDEFHC1
STRING (EMBL)EFHC1
ZODIACEFHC1
Ontologies - Pathways
QuickGOQ5JVL4
Ontology : AmiGOcalcium ion binding  protein binding  cytoplasm  centrosome  axoneme  protein C-terminus binding  cerebral cortex cell migration  neuronal cell body  mitotic spindle  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytoplasm  centrosome  axoneme  protein C-terminus binding  cerebral cortex cell migration  neuronal cell body  mitotic spindle  
NDEx NetworkEFHC1
Atlas of Cancer Signalling NetworkEFHC1
Wikipedia pathwaysEFHC1
Orthology - Evolution
OrthoDB114327
GeneTree (enSembl)ENSG00000096093
Phylogenetic Trees/Animal Genes : TreeFamEFHC1
HOVERGENQ5JVL4
HOGENOMQ5JVL4
Homologs : HomoloGeneEFHC1
Homology/Alignments : Family Browser (UCSC)EFHC1
Gene fusions - Rearrangements
Fusion : MitelmanEFHC1/LPHN3 [6p12.2/]  
Fusion: TCGAEFHC1 6p12.2 LPHN3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFHC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHC1
dbVarEFHC1
ClinVarEFHC1
1000_GenomesEFHC1 
Exome Variant ServerEFHC1
ExAC (Exome Aggregation Consortium)EFHC1 (select the gene name)
Genetic variants : HAPMAP114327
Genomic Variants (DGV)EFHC1 [DGVbeta]
DECIPHEREFHC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFHC1 
Mutations
ICGC Data PortalEFHC1 
TCGA Data PortalEFHC1 
Broad Tumor PortalEFHC1
OASIS PortalEFHC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFHC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFHC1
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 EFHC1
DgiDB (Drug Gene Interaction Database)EFHC1
DoCM (Curated mutations)EFHC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFHC1 (select a term)
intoGenEFHC1
Cancer3DEFHC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM254770    607631    608815   
Orphanet102    101   
MedgenEFHC1
Genetic Testing Registry EFHC1
NextProtQ5JVL4 [Medical]
TSGene114327
GENETestsEFHC1
Target ValidationEFHC1
Huge Navigator EFHC1 [HugePedia]
snp3D : Map Gene to Disease114327
BioCentury BCIQEFHC1
ClinGenEFHC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114327
Chemical/Pharm GKB GenePA27654
Clinical trialEFHC1
Miscellaneous
canSAR (ICR)EFHC1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFHC1
EVEXEFHC1
GoPubMedEFHC1
iHOPEFHC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:32:10 CEST 2017
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