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EFCAB13 (EF-hand calcium binding domain 13)

Identity

Alias_namesC17orf57
chromosome 17 open reading frame 57
Alias_symbol (synonym)FLJ40342
Other alias
HGNC (Hugo) EFCAB13
LocusID (NCBI) 124989
Atlas_Id 62738
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 47323961 and ends at 47430710 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EFCAB13 (17q21.32) / MYL4 (17q21.32)NSF (17q21.31) / EFCAB13 (17q21.32)

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)EFCAB13   26864
Cards
Entrez_Gene (NCBI)EFCAB13  124989  EF-hand calcium binding domain 13
AliasesC17orf57
GeneCards (Weizmann)EFCAB13
Ensembl hg19 (Hinxton)ENSG00000178852 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178852 [Gene_View]  chr17:47323961-47430710 [Contig_View]  EFCAB13 [Vega]
ICGC DataPortalENSG00000178852
TCGA cBioPortalEFCAB13
AceView (NCBI)EFCAB13
Genatlas (Paris)EFCAB13
WikiGenes124989
SOURCE (Princeton)EFCAB13
Genetics Home Reference (NIH)EFCAB13
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB13  -     chr17:47323961-47430710 +  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB13  -     17q21.32   [Description]    (hg19-Feb_2009)
EnsemblEFCAB13 - 17q21.32 [CytoView hg19]  EFCAB13 - 17q21.32 [CytoView hg38]
Mapping of homologs : NCBIEFCAB13 [Mapview hg19]  EFCAB13 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK097661 BC036407 BC037876 BC044604 BX471329
RefSeq transcript (Entrez)NM_001195192 NM_152347
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB13
Cluster EST : UnigeneHs.463303 [ NCBI ]
CGAP (NCI)Hs.463303
Alternative Splicing GalleryENSG00000178852
Gene ExpressionEFCAB13 [ NCBI-GEO ]   EFCAB13 [ EBI - ARRAY_EXPRESS ]   EFCAB13 [ SEEK ]   EFCAB13 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124989
GTEX Portal (Tissue expression)EFCAB13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IY85   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IY85  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IY85
Splice isoforms : SwissVarQ8IY85
PhosPhoSitePlusQ8IY85
Domains : Interpro (EBI)EF-hand-dom_pair   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EFCAB13
DMDM Disease mutations124989
Blocks (Seattle)EFCAB13
SuperfamilyQ8IY85
Human Protein AtlasENSG00000178852
Peptide AtlasQ8IY85
HPRD08278
IPIIPI00217691   IPI01015923   IPI00983843   IPI00984711   IPI00794001   IPI00984148   
Protein Interaction databases
DIP (DOE-UCLA)Q8IY85
IntAct (EBI)Q8IY85
FunCoupENSG00000178852
BioGRIDEFCAB13
STRING (EMBL)EFCAB13
ZODIACEFCAB13
Ontologies - Pathways
QuickGOQ8IY85
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkEFCAB13
Atlas of Cancer Signalling NetworkEFCAB13
Wikipedia pathwaysEFCAB13
Orthology - Evolution
OrthoDB124989
GeneTree (enSembl)ENSG00000178852
Phylogenetic Trees/Animal Genes : TreeFamEFCAB13
HOVERGENQ8IY85
HOGENOMQ8IY85
Homologs : HomoloGeneEFCAB13
Homology/Alignments : Family Browser (UCSC)EFCAB13
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB13
dbVarEFCAB13
ClinVarEFCAB13
1000_GenomesEFCAB13 
Exome Variant ServerEFCAB13
ExAC (Exome Aggregation Consortium)EFCAB13 (select the gene name)
Genetic variants : HAPMAP124989
Genomic Variants (DGV)EFCAB13 [DGVbeta]
DECIPHEREFCAB13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB13 
Mutations
ICGC Data PortalEFCAB13 
TCGA Data PortalEFCAB13 
Broad Tumor PortalEFCAB13
OASIS PortalEFCAB13 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEFCAB13
BioMutasearch EFCAB13
DgiDB (Drug Gene Interaction Database)EFCAB13
DoCM (Curated mutations)EFCAB13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB13 (select a term)
intoGenEFCAB13
Cancer3DEFCAB13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFCAB13
Genetic Testing Registry EFCAB13
NextProtQ8IY85 [Medical]
TSGene124989
GENETestsEFCAB13
Target ValidationEFCAB13
Huge Navigator EFCAB13 [HugePedia]
snp3D : Map Gene to Disease124989
BioCentury BCIQEFCAB13
ClinGenEFCAB13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124989
Chemical/Pharm GKB GenePA142672240
Clinical trialEFCAB13
Miscellaneous
canSAR (ICR)EFCAB13 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB13
EVEXEFCAB13
GoPubMedEFCAB13
iHOPEFCAB13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:06:53 CEST 2017

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