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EFCAB8 (EF-hand calcium binding domain 8)

Identity

Alias (NCBI)-
HGNC (Hugo) EFCAB8
LocusID (NCBI) 388795
Atlas_Id 79254
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 32858923 and ends at 32961609 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)EFCAB8   34532
Cards
Entrez_Gene (NCBI)EFCAB8    EF-hand calcium binding domain 8
Aliases
GeneCards (Weizmann)EFCAB8
Ensembl hg19 (Hinxton)ENSG00000215529 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215529 [Gene_View]  ENSG00000215529 [Sequence]  chr20:32858923-32961609 [Contig_View]  EFCAB8 [Vega]
ICGC DataPortalENSG00000215529
TCGA cBioPortalEFCAB8
AceView (NCBI)EFCAB8
Genatlas (Paris)EFCAB8
SOURCE (Princeton)EFCAB8
Genetics Home Reference (NIH)EFCAB8
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB8  -     chr20:32858923-32961609 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB8  -     20q11.21   [Description]    (hg19-Feb_2009)
GoldenPathEFCAB8 - 20q11.21 [CytoView hg19]  EFCAB8 - 20q11.21 [CytoView hg38]
ImmunoBaseENSG00000215529
Genome Data Viewer NCBIEFCAB8 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001143967
Consensus coding sequences : CCDS (NCBI)EFCAB8
Gene ExpressionEFCAB8 [ NCBI-GEO ]   EFCAB8 [ EBI - ARRAY_EXPRESS ]   EFCAB8 [ SEEK ]   EFCAB8 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB8 [ Firebrowse - Broad ]
GenevisibleExpression of EFCAB8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388795
GTEX Portal (Tissue expression)EFCAB8
Human Protein AtlasENSG00000215529-EFCAB8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8MWE9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8MWE9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8MWE9
PhosPhoSitePlusA8MWE9
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)EFCAB8
SuperfamilyA8MWE9
AlphaFold pdb e-kbA8MWE9   
Human Protein Atlas [tissue]ENSG00000215529-EFCAB8 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)A8MWE9
IntAct (EBI)A8MWE9
BioGRIDEFCAB8
STRING (EMBL)EFCAB8
ZODIACEFCAB8
Ontologies - Pathways
QuickGOA8MWE9
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCAB8
Atlas of Cancer Signalling NetworkEFCAB8
Wikipedia pathwaysEFCAB8
Orthology - Evolution
OrthoDB388795
GeneTree (enSembl)ENSG00000215529
Phylogenetic Trees/Animal Genes : TreeFamEFCAB8
Homologs : HomoloGeneEFCAB8
Homology/Alignments : Family Browser (UCSC)EFCAB8
Gene fusions - Rearrangements
Fusion : QuiverEFCAB8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB8
dbVarEFCAB8
ClinVarEFCAB8
MonarchEFCAB8
1000_GenomesEFCAB8 
Exome Variant ServerEFCAB8
GNOMAD BrowserENSG00000215529
Varsome BrowserEFCAB8
ACMGEFCAB8 variants
VarityA8MWE9
Genomic Variants (DGV)EFCAB8 [DGVbeta]
DECIPHEREFCAB8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB8 
Mutations
ICGC Data PortalEFCAB8 
TCGA Data PortalEFCAB8 
Broad Tumor PortalEFCAB8
OASIS PortalEFCAB8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEFCAB8
Mutations and Diseases : HGMDEFCAB8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEFCAB8
DgiDB (Drug Gene Interaction Database)EFCAB8
DoCM (Curated mutations)EFCAB8
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB8
Cancer3DEFCAB8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEFCAB8
MedgenEFCAB8
Genetic Testing Registry EFCAB8
NextProtA8MWE9 [Medical]
GENETestsEFCAB8
Target ValidationEFCAB8
Huge Navigator EFCAB8 [HugePedia]
ClinGenEFCAB8
Clinical trials, drugs, therapy
MyCancerGenomeEFCAB8
Protein Interactions : CTDEFCAB8
Pharm GKB GenePA164718907
PharosA8MWE9
Clinical trialEFCAB8
Miscellaneous
canSAR (ICR)EFCAB8
HarmonizomeEFCAB8
DataMed IndexEFCAB8
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEFCAB8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:48:42 CEST 2021

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