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EFCAB11 (EF-hand calcium binding domain 11)

Identity

Alias_namesC14orf143
chromosome 14 open reading frame 143
Other alias
HGNC (Hugo) EFCAB11
LocusID (NCBI) 90141
Atlas_Id 55271
Location 14q32.11  [Link to chromosome band 14q32]
Location_base_pair Starts at 89923277 and ends at 89954777 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHD6 (20q12) / EFCAB11 (14q32.11)EFCAB11 (14q32.11) / ASB2 (14q32.12)EFCAB11 (14q32.11) / EFCAB11 (14q32.11)
TGFBR2 (3p24.1) / EFCAB11 (14q32.11)CHD6 20q12 / EFCAB11 14q32.11EFCAB11 14q32.11 / ASB2 14q32.12

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)EFCAB11   20357
Cards
Entrez_Gene (NCBI)EFCAB11  90141  EF-hand calcium binding domain 11
AliasesC14orf143
GeneCards (Weizmann)EFCAB11
Ensembl hg19 (Hinxton)ENSG00000140025 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140025 [Gene_View]  chr14:89923277-89954777 [Contig_View]  EFCAB11 [Vega]
ICGC DataPortalENSG00000140025
TCGA cBioPortalEFCAB11
AceView (NCBI)EFCAB11
Genatlas (Paris)EFCAB11
WikiGenes90141
SOURCE (Princeton)EFCAB11
Genetics Home Reference (NIH)EFCAB11
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB11  -     chr14:89923277-89954777 -  14q32.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB11  -     14q32.11   [Description]    (hg19-Feb_2009)
EnsemblEFCAB11 - 14q32.11 [CytoView hg19]  EFCAB11 - 14q32.11 [CytoView hg38]
Mapping of homologs : NCBIEFCAB11 [Mapview hg19]  EFCAB11 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK094740 AK298930 AK310331 AL832321 BC001787
RefSeq transcript (Entrez)NM_001284266 NM_001284267 NM_001284268 NM_001284269 NM_145231
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB11
Cluster EST : UnigeneHs.123232 [ NCBI ]
CGAP (NCI)Hs.123232
Alternative Splicing GalleryENSG00000140025
Gene ExpressionEFCAB11 [ NCBI-GEO ]   EFCAB11 [ EBI - ARRAY_EXPRESS ]   EFCAB11 [ SEEK ]   EFCAB11 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90141
GTEX Portal (Tissue expression)EFCAB11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUY7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BUY7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUY7
Splice isoforms : SwissVarQ9BUY7
PhosPhoSitePlusQ9BUY7
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_7 (PF13499)    EF-hand_8 (PF13833)   
Domain families : Pfam (NCBI)pfam13499    pfam13833   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFCAB11
DMDM Disease mutations90141
Blocks (Seattle)EFCAB11
SuperfamilyQ9BUY7
Human Protein AtlasENSG00000140025
Peptide AtlasQ9BUY7
HPRD16609
IPIIPI00014992   IPI00845264   IPI00383976   IPI01017990   IPI00845288   IPI01025719   IPI01025182   IPI01026325   
Protein Interaction databases
DIP (DOE-UCLA)Q9BUY7
IntAct (EBI)Q9BUY7
FunCoupENSG00000140025
BioGRIDEFCAB11
STRING (EMBL)EFCAB11
ZODIACEFCAB11
Ontologies - Pathways
QuickGOQ9BUY7
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCAB11
Atlas of Cancer Signalling NetworkEFCAB11
Wikipedia pathwaysEFCAB11
Orthology - Evolution
OrthoDB90141
GeneTree (enSembl)ENSG00000140025
Phylogenetic Trees/Animal Genes : TreeFamEFCAB11
HOVERGENQ9BUY7
HOGENOMQ9BUY7
Homologs : HomoloGeneEFCAB11
Homology/Alignments : Family Browser (UCSC)EFCAB11
Gene fusions - Rearrangements
Fusion : MitelmanCHD6/EFCAB11 [20q12/14q32.11]  [t(14;20)(q32;q12)]  
Fusion : MitelmanEFCAB11/ASB2 [14q32.11/14q32.12]  [t(14;14)(q32;q32)]  
Fusion: TCGACHD6 20q12 EFCAB11 14q32.11 BRCA
Fusion: TCGAEFCAB11 14q32.11 ASB2 14q32.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB11
dbVarEFCAB11
ClinVarEFCAB11
1000_GenomesEFCAB11 
Exome Variant ServerEFCAB11
ExAC (Exome Aggregation Consortium)EFCAB11 (select the gene name)
Genetic variants : HAPMAP90141
Genomic Variants (DGV)EFCAB11 [DGVbeta]
DECIPHEREFCAB11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB11 
Mutations
ICGC Data PortalEFCAB11 
TCGA Data PortalEFCAB11 
Broad Tumor PortalEFCAB11
OASIS PortalEFCAB11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFCAB11
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 EFCAB11
DgiDB (Drug Gene Interaction Database)EFCAB11
DoCM (Curated mutations)EFCAB11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB11 (select a term)
intoGenEFCAB11
Cancer3DEFCAB11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFCAB11
Genetic Testing Registry EFCAB11
NextProtQ9BUY7 [Medical]
TSGene90141
GENETestsEFCAB11
Huge Navigator EFCAB11 [HugePedia]
snp3D : Map Gene to Disease90141
BioCentury BCIQEFCAB11
ClinGenEFCAB11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90141
Chemical/Pharm GKB GenePA134875422
Clinical trialEFCAB11
Miscellaneous
canSAR (ICR)EFCAB11 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB11
EVEXEFCAB11
GoPubMedEFCAB11
iHOPEFCAB11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:14:16 CEST 2017

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