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EFCAB3 (EF-hand calcium binding domain 3)

Identity

Alias_symbol (synonym)FLJ25818
Other alias-
HGNC (Hugo) EFCAB3
LocusID (NCBI) 146779
Atlas_Id 62742
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 62370218 and ends at 62416478 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AKAP8L (19p13.12) / EFCAB3 (17q23.2)MBTD1 (17q21.33) / EFCAB3 (17q23.2)METTL2A (17q23.2) / EFCAB3 (17q23.2)
RPS6KB1 (17q23.1) / EFCAB3 (17q23.2)TANC2 (17q23.2) / EFCAB3 (17q23.2)MBTD1 EFCAB3
RPS6KB1 EFCAB3AKAP8L EFCAB3TANC2 EFCAB3

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)EFCAB3   26379
Cards
Entrez_Gene (NCBI)EFCAB3  146779  EF-hand calcium binding domain 3
Aliases
GeneCards (Weizmann)EFCAB3
Ensembl hg19 (Hinxton)ENSG00000172421 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172421 [Gene_View]  ENSG00000172421 [Sequence]  chr17:62370218-62416478 [Contig_View]  EFCAB3 [Vega]
ICGC DataPortalENSG00000172421
TCGA cBioPortalEFCAB3
AceView (NCBI)EFCAB3
Genatlas (Paris)EFCAB3
WikiGenes146779
SOURCE (Princeton)EFCAB3
Genetics Home Reference (NIH)EFCAB3
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB3  -     chr17:62370218-62416478 +  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB3  -     17q23.2   [Description]    (hg19-Feb_2009)
GoldenPathEFCAB3 - 17q23.2 [CytoView hg19]  EFCAB3 - 17q23.2 [CytoView hg38]
ImmunoBaseENSG00000172421
Mapping of homologs : NCBIEFCAB3 [Mapview hg19]  EFCAB3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI218847 AK098684 BC101752 BC101778 EG327376
RefSeq transcript (Entrez)NM_001144933 NM_173503
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB3
Cluster EST : UnigeneHs.152670 [ NCBI ]
CGAP (NCI)Hs.152670
Alternative Splicing GalleryENSG00000172421
Gene ExpressionEFCAB3 [ NCBI-GEO ]   EFCAB3 [ EBI - ARRAY_EXPRESS ]   EFCAB3 [ SEEK ]   EFCAB3 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146779
GTEX Portal (Tissue expression)EFCAB3
Human Protein AtlasENSG00000172421-EFCAB3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N7B9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N7B9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N7B9
Splice isoforms : SwissVarQ8N7B9
PhosPhoSitePlusQ8N7B9
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   
Domain families : Pfam (Sanger)EF-hand_8 (PF13833)   
Domain families : Pfam (NCBI)pfam13833   
Conserved Domain (NCBI)EFCAB3
DMDM Disease mutations146779
Blocks (Seattle)EFCAB3
SuperfamilyQ8N7B9
Human Protein Atlas [tissue]ENSG00000172421-EFCAB3 [tissue]
Peptide AtlasQ8N7B9
HPRD08077
IPIIPI00167171   IPI00921564   IPI00976016   IPI00984331   
Protein Interaction databases
DIP (DOE-UCLA)Q8N7B9
IntAct (EBI)Q8N7B9
FunCoupENSG00000172421
BioGRIDEFCAB3
STRING (EMBL)EFCAB3
ZODIACEFCAB3
Ontologies - Pathways
QuickGOQ8N7B9
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCAB3
Atlas of Cancer Signalling NetworkEFCAB3
Wikipedia pathwaysEFCAB3
Orthology - Evolution
OrthoDB146779
GeneTree (enSembl)ENSG00000172421
Phylogenetic Trees/Animal Genes : TreeFamEFCAB3
HOGENOMQ8N7B9
Homologs : HomoloGeneEFCAB3
Homology/Alignments : Family Browser (UCSC)EFCAB3
Gene fusions - Rearrangements
Fusion PortalMBTD1 EFCAB3
Fusion PortalRPS6KB1 EFCAB3
Fusion PortalAKAP8L EFCAB3
Fusion PortalTANC2 EFCAB3
Fusion : QuiverEFCAB3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB3
dbVarEFCAB3
ClinVarEFCAB3
1000_GenomesEFCAB3 
Exome Variant ServerEFCAB3
ExAC (Exome Aggregation Consortium)ENSG00000172421
GNOMAD BrowserENSG00000172421
Varsome BrowserEFCAB3
Genetic variants : HAPMAP146779
Genomic Variants (DGV)EFCAB3 [DGVbeta]
DECIPHEREFCAB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB3 
Mutations
ICGC Data PortalEFCAB3 
TCGA Data PortalEFCAB3 
Broad Tumor PortalEFCAB3
OASIS PortalEFCAB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEFCAB3
Mutations and Diseases : HGMDEFCAB3
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 EFCAB3
DgiDB (Drug Gene Interaction Database)EFCAB3
DoCM (Curated mutations)EFCAB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB3 (select a term)
intoGenEFCAB3
Cancer3DEFCAB3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEFCAB3
MedgenEFCAB3
Genetic Testing Registry EFCAB3
NextProtQ8N7B9 [Medical]
TSGene146779
GENETestsEFCAB3
Target ValidationEFCAB3
Huge Navigator EFCAB3 [HugePedia]
snp3D : Map Gene to Disease146779
BioCentury BCIQEFCAB3
ClinGenEFCAB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD146779
Chemical/Pharm GKB GenePA143485451
Clinical trialEFCAB3
Miscellaneous
canSAR (ICR)EFCAB3 (select the gene name)
DataMed IndexEFCAB3
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB3
EVEXEFCAB3
GoPubMedEFCAB3
iHOPEFCAB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:26:30 CEST 2019
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