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EFCAB12 (EF-hand calcium binding domain 12)

Identity

Alias_namesC3orf25
chromosome 3 open reading frame 25
Other alias
HGNC (Hugo) EFCAB12
LocusID (NCBI) 90288
Atlas_Id 62737
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 129401321 and ends at 129428651 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EFCAB12 (3q21.3) / MBD4 (3q21.3)

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)EFCAB12   28061
Cards
Entrez_Gene (NCBI)EFCAB12  90288  EF-hand calcium binding domain 12
AliasesC3orf25
GeneCards (Weizmann)EFCAB12
Ensembl hg19 (Hinxton)ENSG00000172771 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172771 [Gene_View]  chr3:129401321-129428651 [Contig_View]  EFCAB12 [Vega]
ICGC DataPortalENSG00000172771
TCGA cBioPortalEFCAB12
AceView (NCBI)EFCAB12
Genatlas (Paris)EFCAB12
WikiGenes90288
SOURCE (Princeton)EFCAB12
Genetics Home Reference (NIH)EFCAB12
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB12  -     chr3:129401321-129428651 -  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB12  -     3q21.3   [Description]    (hg19-Feb_2009)
EnsemblEFCAB12 - 3q21.3 [CytoView hg19]  EFCAB12 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIEFCAB12 [Mapview hg19]  EFCAB12 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057281 AK096099 AK127968 AL133011 BC031104
RefSeq transcript (Entrez)NM_207307
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB12
Cluster EST : UnigeneHs.652347 [ NCBI ]
CGAP (NCI)Hs.652347
Alternative Splicing GalleryENSG00000172771
Gene ExpressionEFCAB12 [ NCBI-GEO ]   EFCAB12 [ EBI - ARRAY_EXPRESS ]   EFCAB12 [ SEEK ]   EFCAB12 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90288
GTEX Portal (Tissue expression)EFCAB12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NXP0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NXP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NXP0
Splice isoforms : SwissVarQ6NXP0
PhosPhoSitePlusQ6NXP0
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EFCAB12
DMDM Disease mutations90288
Blocks (Seattle)EFCAB12
SuperfamilyQ6NXP0
Human Protein AtlasENSG00000172771
Peptide AtlasQ6NXP0
HPRD11276
IPIIPI00181214   IPI00798395   IPI00796295   
Protein Interaction databases
DIP (DOE-UCLA)Q6NXP0
IntAct (EBI)Q6NXP0
FunCoupENSG00000172771
BioGRIDEFCAB12
STRING (EMBL)EFCAB12
ZODIACEFCAB12
Ontologies - Pathways
QuickGOQ6NXP0
Ontology : AmiGOcalcium ion binding  protein binding  
Ontology : EGO-EBIcalcium ion binding  protein binding  
NDEx NetworkEFCAB12
Atlas of Cancer Signalling NetworkEFCAB12
Wikipedia pathwaysEFCAB12
Orthology - Evolution
OrthoDB90288
GeneTree (enSembl)ENSG00000172771
Phylogenetic Trees/Animal Genes : TreeFamEFCAB12
HOVERGENQ6NXP0
HOGENOMQ6NXP0
Homologs : HomoloGeneEFCAB12
Homology/Alignments : Family Browser (UCSC)EFCAB12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB12
dbVarEFCAB12
ClinVarEFCAB12
1000_GenomesEFCAB12 
Exome Variant ServerEFCAB12
ExAC (Exome Aggregation Consortium)EFCAB12 (select the gene name)
Genetic variants : HAPMAP90288
Genomic Variants (DGV)EFCAB12 [DGVbeta]
DECIPHEREFCAB12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB12 
Mutations
ICGC Data PortalEFCAB12 
TCGA Data PortalEFCAB12 
Broad Tumor PortalEFCAB12
OASIS PortalEFCAB12 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEFCAB12
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 EFCAB12
DgiDB (Drug Gene Interaction Database)EFCAB12
DoCM (Curated mutations)EFCAB12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB12 (select a term)
intoGenEFCAB12
Cancer3DEFCAB12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFCAB12
Genetic Testing Registry EFCAB12
NextProtQ6NXP0 [Medical]
TSGene90288
GENETestsEFCAB12
Target ValidationEFCAB12
Huge Navigator EFCAB12 [HugePedia]
snp3D : Map Gene to Disease90288
BioCentury BCIQEFCAB12
ClinGenEFCAB12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90288
Chemical/Pharm GKB GenePA142672386
Clinical trialEFCAB12
Miscellaneous
canSAR (ICR)EFCAB12 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB12
EVEXEFCAB12
GoPubMedEFCAB12
iHOPEFCAB12
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 13:06:52 CEST 2017

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