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EFCAB5 (EF-hand calcium binding domain 5)

Identity

Other names-
HGNC (Hugo) EFCAB5
LocusID (NCBI) 374786
Atlas_Id 43065
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 28256874 and ends at 28401643 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATAD5 (17q11.2) / EFCAB5 (17q11.2)CBX4 (17q25.3) / EFCAB5 (17q11.2)EFCAB5 (17q11.2) / SUZ12 (17q11.2)
KSR1 (17q11.1) / EFCAB5 (17q11.2)MSI2 (17q22) / EFCAB5 (17q11.2)NSRP1 (17q11.2) / EFCAB5 (17q11.2)
SSH2 (17q11.2) / EFCAB5 (17q11.2)ATAD5 17q11.2 / EFCAB5 17q11.2CBX4 17q25.3 / EFCAB5 17q11.2
KSR1 17q11.1 / EFCAB5 17q11.2MSI2 17q22 / EFCAB5 17q11.2NSRP1 17q11.2 / EFCAB5 17q11.2

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)EFCAB5   24801
Cards
Entrez_Gene (NCBI)EFCAB5  374786  EF-hand calcium binding domain 5
Aliases
GeneCards (Weizmann)EFCAB5
Ensembl hg19 (Hinxton)ENSG00000176927 [Gene_View]  chr17:28256874-28401643 [Contig_View]  EFCAB5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000176927 [Gene_View]  chr17:28256874-28401643 [Contig_View]  EFCAB5 [Vega]
ICGC DataPortalENSG00000176927
TCGA cBioPortalEFCAB5
AceView (NCBI)EFCAB5
Genatlas (Paris)EFCAB5
WikiGenes374786
SOURCE (Princeton)EFCAB5
Genomic and cartography
GoldenPath hg19 (UCSC)EFCAB5  -     chr17:28256874-28401643 +  17q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFCAB5  -     17q11.2   [Description]    (hg38-Dec_2013)
EnsemblEFCAB5 - 17q11.2 [CytoView hg19]  EFCAB5 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIEFCAB5 [Mapview hg19]  EFCAB5 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK128126 AK299608 AK302745 AK303060 AL833911
RefSeq transcript (Entrez)NM_001033562 NM_001145053 NM_198529
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)EFCAB5
Cluster EST : UnigeneHs.662411 [ NCBI ]
CGAP (NCI)Hs.662411
Alternative Splicing GalleryENSG00000176927
Gene ExpressionEFCAB5 [ NCBI-GEO ]   EFCAB5 [ EBI - ARRAY_EXPRESS ]   EFCAB5 [ SEEK ]   EFCAB5 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)374786
GTEX Portal (Tissue expression)EFCAB5
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4FU69 (Uniprot)
NextProtA4FU69  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA4FU69
Splice isoforms : SwissVarA4FU69 (Swissvar)
PhosPhoSitePlusA4FU69
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    GAF    GAF_dom-like   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)GAF (SM00065)  
DMDM Disease mutations374786
Blocks (Seattle)EFCAB5
SuperfamilyA4FU69
Human Protein AtlasENSG00000176927
Peptide AtlasA4FU69
HPRD13528
IPIIPI00791236   IPI00394857   IPI00874210   IPI01012592   IPI00879363   IPI00984678   IPI01012188   IPI01011229   IPI00913929   IPI00878520   IPI00871427   
Protein Interaction databases
DIP (DOE-UCLA)A4FU69
IntAct (EBI)A4FU69
FunCoupENSG00000176927
BioGRIDEFCAB5
STRING (EMBL)EFCAB5
ZODIACEFCAB5
Ontologies - Pathways
QuickGOA4FU69
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx Network
Atlas of Cancer Signalling NetworkEFCAB5
Wikipedia pathwaysEFCAB5
Orthology - Evolution
OrthoDB374786
GeneTree (enSembl)ENSG00000176927
Phylogenetic Trees/Animal Genes : TreeFamEFCAB5
Homologs : HomoloGeneEFCAB5
Homology/Alignments : Family Browser (UCSC)EFCAB5
Gene fusions - Rearrangements
Fusion: TCGAATAD5 17q11.2 EFCAB5 17q11.2 LUAD
Fusion: TCGACBX4 17q25.3 EFCAB5 17q11.2 BRCA
Fusion: TCGAKSR1 17q11.1 EFCAB5 17q11.2 LUAD
Fusion: TCGAMSI2 17q22 EFCAB5 17q11.2 BRCA
Fusion: TCGANSRP1 17q11.2 EFCAB5 17q11.2 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerEFCAB5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB5
dbVarEFCAB5
ClinVarEFCAB5
1000_GenomesEFCAB5 
Exome Variant ServerEFCAB5
ExAC (Exome Aggregation Consortium)EFCAB5 (select the gene name)
Genetic variants : HAPMAP374786
Genomic Variants (DGV)EFCAB5 [DGVbeta]
Mutations
ICGC Data PortalEFCAB5 
TCGA Data PortalEFCAB5 
Broad Tumor PortalEFCAB5
OASIS PortalEFCAB5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB5 
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 EFCAB5
DgiDB (Drug Gene Interaction Database)EFCAB5
DoCM (Curated mutations)EFCAB5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB5 (select a term)
intoGenEFCAB5
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:28256874-28401643  ENSG00000176927
CONAN: Copy Number AnalysisEFCAB5 
Mutations and Diseases : HGMDEFCAB5
OMIM
MedgenEFCAB5
Genetic Testing Registry EFCAB5
NextProtA4FU69 [Medical]
TSGene374786
GENETestsEFCAB5
Huge Navigator EFCAB5 [HugePedia]
snp3D : Map Gene to Disease374786
BioCentury BCIQEFCAB5
ClinGenEFCAB5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD374786
Chemical/Pharm GKB GenePA145008457
Clinical trialEFCAB5
Miscellaneous
canSAR (ICR)EFCAB5 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB5
EVEXEFCAB5
GoPubMedEFCAB5
iHOPEFCAB5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:34:21 CEST 2016

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