Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EFCAB6 (EF-hand calcium binding domain 6)

Identity

Alias_symbol (synonym)FLJ23588
DJBP
HSCBCIP1
KIAA1672
dJ185D5.1
Other alias
HGNC (Hugo) EFCAB6
LocusID (NCBI) 64800
Atlas_Id 54273
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 43924624 and ends at 44208217 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATG2A (11q13.1) / EFCAB6 (22q13.2)EFCAB6 (22q13.2) / TRAF3IP2-AS1 (6q21)HMGA2 (12q14.3) / EFCAB6 (22q13.2)
KLC1 (14q32.33) / EFCAB6 (22q13.2)SHANK2 (11q13.3) / EFCAB6 (22q13.2)ATG2A 11q13.1 / EFCAB6 22q13.2
SHANK2 11q13.3 / EFCAB6 22q13.2

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)EFCAB6   24204
Cards
Entrez_Gene (NCBI)EFCAB6  64800  EF-hand calcium binding domain 6
AliasesDJBP; HSCBCIP1; dJ185D5.1
GeneCards (Weizmann)EFCAB6
Ensembl hg19 (Hinxton)ENSG00000186976 [Gene_View]  chr22:43924624-44208217 [Contig_View]  EFCAB6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000186976 [Gene_View]  chr22:43924624-44208217 [Contig_View]  EFCAB6 [Vega]
ICGC DataPortalENSG00000186976
TCGA cBioPortalEFCAB6
AceView (NCBI)EFCAB6
Genatlas (Paris)EFCAB6
WikiGenes64800
SOURCE (Princeton)EFCAB6
Genetics Home Reference (NIH)EFCAB6
Genomic and cartography
GoldenPath hg19 (UCSC)EFCAB6  -     chr22:43924624-44208217 -  22q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFCAB6  -     22q13.2   [Description]    (hg38-Dec_2013)
EnsemblEFCAB6 - 22q13.2 [CytoView hg19]  EFCAB6 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIEFCAB6 [Mapview hg19]  EFCAB6 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA778573 AB051459 AB073862 AK027241 AK058069
RefSeq transcript (Entrez)NM_022785 NM_198856
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_030019 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)EFCAB6
Cluster EST : UnigeneHs.658996 [ NCBI ]
CGAP (NCI)Hs.658996
Alternative Splicing GalleryENSG00000186976
Gene ExpressionEFCAB6 [ NCBI-GEO ]   EFCAB6 [ EBI - ARRAY_EXPRESS ]   EFCAB6 [ SEEK ]   EFCAB6 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64800
GTEX Portal (Tissue expression)EFCAB6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5THR3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5THR3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5THR3
Splice isoforms : SwissVarQ5THR3
PhosPhoSitePlusQ5THR3
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_DJBP    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_11 (PF08976)    EF-hand_8 (PF13833)   
Domain families : Pfam (NCBI)pfam08976    pfam13833   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFCAB6
DMDM Disease mutations64800
Blocks (Seattle)EFCAB6
PDB (SRS)1WLZ    5D67   
PDB (PDBSum)1WLZ    5D67   
PDB (IMB)1WLZ    5D67   
PDB (RSDB)1WLZ    5D67   
Structural Biology KnowledgeBase1WLZ    5D67   
SCOP (Structural Classification of Proteins)1WLZ    5D67   
CATH (Classification of proteins structures)1WLZ    5D67   
SuperfamilyQ5THR3
Human Protein AtlasENSG00000186976
Peptide AtlasQ5THR3
HPRD13391
IPIIPI00009724   IPI00394845   IPI00761031   IPI00760664   IPI00760567   IPI00889705   IPI01010492   IPI00015160   
Protein Interaction databases
DIP (DOE-UCLA)Q5THR3
IntAct (EBI)Q5THR3
FunCoupENSG00000186976
BioGRIDEFCAB6
STRING (EMBL)EFCAB6
ZODIACEFCAB6
Ontologies - Pathways
QuickGOQ5THR3
Ontology : AmiGOcalcium ion binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  
Ontology : EGO-EBIcalcium ion binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  
NDEx NetworkEFCAB6
Atlas of Cancer Signalling NetworkEFCAB6
Wikipedia pathwaysEFCAB6
Orthology - Evolution
OrthoDB64800
GeneTree (enSembl)ENSG00000186976
Phylogenetic Trees/Animal Genes : TreeFamEFCAB6
HOVERGENQ5THR3
HOGENOMQ5THR3
Homologs : HomoloGeneEFCAB6
Homology/Alignments : Family Browser (UCSC)EFCAB6
Gene fusions - Rearrangements
Fusion : MitelmanATG2A/EFCAB6 [11q13.1/22q13.2]  [t(11;22)(q13;q13)]  
Fusion : MitelmanHMGA2/EFCAB6 [12q14.3/22q13.2]  [t(12;22)(q14;q13)]  
Fusion : MitelmanSHANK2/EFCAB6 [11q13.3/22q13.2]  [t(11;22)(q13;q13)]  
Fusion: TCGAATG2A 11q13.1 EFCAB6 22q13.2 KIRC
Fusion: TCGASHANK2 11q13.3 EFCAB6 22q13.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB6
dbVarEFCAB6
ClinVarEFCAB6
1000_GenomesEFCAB6 
Exome Variant ServerEFCAB6
ExAC (Exome Aggregation Consortium)EFCAB6 (select the gene name)
Genetic variants : HAPMAP64800
Genomic Variants (DGV)EFCAB6 [DGVbeta]
DECIPHER (Syndromes)22:43924624-44208217  ENSG00000186976
CONAN: Copy Number AnalysisEFCAB6 
Mutations
ICGC Data PortalEFCAB6 
TCGA Data PortalEFCAB6 
Broad Tumor PortalEFCAB6
OASIS PortalEFCAB6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFCAB6
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 EFCAB6
DgiDB (Drug Gene Interaction Database)EFCAB6
DoCM (Curated mutations)EFCAB6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB6 (select a term)
intoGenEFCAB6
Cancer3DEFCAB6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFCAB6
Genetic Testing Registry EFCAB6
NextProtQ5THR3 [Medical]
TSGene64800
GENETestsEFCAB6
Huge Navigator EFCAB6 [HugePedia]
snp3D : Map Gene to Disease64800
BioCentury BCIQEFCAB6
ClinGenEFCAB6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64800
Chemical/Pharm GKB GenePA162384324
Clinical trialEFCAB6
Miscellaneous
canSAR (ICR)EFCAB6 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB6
EVEXEFCAB6
GoPubMedEFCAB6
iHOPEFCAB6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:04:17 CET 2017

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