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EFCAB1 (EF-hand calcium binding domain 1)

Identity

Alias_symbol (synonym)FLJ11767
Other alias-
HGNC (Hugo) EFCAB1
LocusID (NCBI) 79645
Atlas_Id 62734
Location 8q11.21  [Link to chromosome band 8q11]
Location_base_pair Starts at 48714915 and ends at 48735311 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COL21A1 (6p12.1) / EFCAB1 (8q11.21)

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)EFCAB1   25678
Cards
Entrez_Gene (NCBI)EFCAB1  79645  EF-hand calcium binding domain 1
Aliases
GeneCards (Weizmann)EFCAB1
Ensembl hg19 (Hinxton)ENSG00000034239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000034239 [Gene_View]  chr8:48714915-48735311 [Contig_View]  EFCAB1 [Vega]
ICGC DataPortalENSG00000034239
TCGA cBioPortalEFCAB1
AceView (NCBI)EFCAB1
Genatlas (Paris)EFCAB1
WikiGenes79645
SOURCE (Princeton)EFCAB1
Genetics Home Reference (NIH)EFCAB1
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB1  -     chr8:48714915-48735311 -  8q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB1  -     8q11.21   [Description]    (hg19-Feb_2009)
EnsemblEFCAB1 - 8q11.21 [CytoView hg19]  EFCAB1 - 8q11.21 [CytoView hg38]
Mapping of homologs : NCBIEFCAB1 [Mapview hg19]  EFCAB1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK021829 AK299659 AK307101 AK316037 BC025676
RefSeq transcript (Entrez)NM_001142857 NM_024593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB1
Cluster EST : UnigeneHs.23245 [ NCBI ]
CGAP (NCI)Hs.23245
Alternative Splicing GalleryENSG00000034239
Gene ExpressionEFCAB1 [ NCBI-GEO ]   EFCAB1 [ EBI - ARRAY_EXPRESS ]   EFCAB1 [ SEEK ]   EFCAB1 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79645
GTEX Portal (Tissue expression)EFCAB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HAE3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HAE3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HAE3
Splice isoforms : SwissVarQ9HAE3
PhosPhoSitePlusQ9HAE3
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)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFCAB1
DMDM Disease mutations79645
Blocks (Seattle)EFCAB1
SuperfamilyQ9HAE3
Human Protein AtlasENSG00000034239
Peptide AtlasQ9HAE3
HPRD08565
IPIIPI00002345   IPI00792158   IPI00922702   IPI00979388   IPI00984169   IPI01015059   
Protein Interaction databases
DIP (DOE-UCLA)Q9HAE3
IntAct (EBI)Q9HAE3
FunCoupENSG00000034239
BioGRIDEFCAB1
STRING (EMBL)EFCAB1
ZODIACEFCAB1
Ontologies - Pathways
QuickGOQ9HAE3
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCAB1
Atlas of Cancer Signalling NetworkEFCAB1
Wikipedia pathwaysEFCAB1
Orthology - Evolution
OrthoDB79645
GeneTree (enSembl)ENSG00000034239
Phylogenetic Trees/Animal Genes : TreeFamEFCAB1
HOVERGENQ9HAE3
HOGENOMQ9HAE3
Homologs : HomoloGeneEFCAB1
Homology/Alignments : Family Browser (UCSC)EFCAB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB1
dbVarEFCAB1
ClinVarEFCAB1
1000_GenomesEFCAB1 
Exome Variant ServerEFCAB1
ExAC (Exome Aggregation Consortium)EFCAB1 (select the gene name)
Genetic variants : HAPMAP79645
Genomic Variants (DGV)EFCAB1 [DGVbeta]
DECIPHEREFCAB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB1 
Mutations
ICGC Data PortalEFCAB1 
TCGA Data PortalEFCAB1 
Broad Tumor PortalEFCAB1
OASIS PortalEFCAB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFCAB1
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 EFCAB1
DgiDB (Drug Gene Interaction Database)EFCAB1
DoCM (Curated mutations)EFCAB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB1 (select a term)
intoGenEFCAB1
Cancer3DEFCAB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFCAB1
Genetic Testing Registry EFCAB1
NextProtQ9HAE3 [Medical]
TSGene79645
GENETestsEFCAB1
Target ValidationEFCAB1
Huge Navigator EFCAB1 [HugePedia]
snp3D : Map Gene to Disease79645
BioCentury BCIQEFCAB1
ClinGenEFCAB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79645
Chemical/Pharm GKB GenePA142671913
Clinical trialEFCAB1
Miscellaneous
canSAR (ICR)EFCAB1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB1
EVEXEFCAB1
GoPubMedEFCAB1
iHOPEFCAB1
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 15:46:48 CEST 2017

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