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EFCAB7 (EF-hand calcium binding domain 7)

Identity

Alias_symbol (synonym)KIAA1799
RP4-534K7.1
Other alias-
HGNC (Hugo) EFCAB7
LocusID (NCBI) 84455
Atlas_Id 62744
Location 1p31.3  [Link to chromosome band 1p31]
Location_base_pair Starts at 63523301 and ends at 63572693 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)
USP1 (1p31.3) / EFCAB7 (1p31.3)

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)EFCAB7   29379
Cards
Entrez_Gene (NCBI)EFCAB7  84455  EF-hand calcium binding domain 7
Aliases
GeneCards (Weizmann)EFCAB7
Ensembl hg19 (Hinxton)ENSG00000203965 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203965 [Gene_View]  ENSG00000203965 [Sequence]  chr1:63523301-63572693 [Contig_View]  EFCAB7 [Vega]
ICGC DataPortalENSG00000203965
TCGA cBioPortalEFCAB7
AceView (NCBI)EFCAB7
Genatlas (Paris)EFCAB7
WikiGenes84455
SOURCE (Princeton)EFCAB7
Genetics Home Reference (NIH)EFCAB7
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB7  -     chr1:63523301-63572693 +  1p31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB7  -     1p31.3   [Description]    (hg19-Feb_2009)
GoldenPathEFCAB7 - 1p31.3 [CytoView hg19]  EFCAB7 - 1p31.3 [CytoView hg38]
ImmunoBaseENSG00000203965
Mapping of homologs : NCBIEFCAB7 [Mapview hg19]  EFCAB7 [Mapview hg38]
OMIM617632   
Gene and transcription
Genbank (Entrez)AB058702 AK092219 AK292220 AK315850 AL833720
RefSeq transcript (Entrez)NM_032437
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB7
Cluster EST : UnigeneHs.652324 [ NCBI ]
CGAP (NCI)Hs.652324
Alternative Splicing GalleryENSG00000203965
Gene ExpressionEFCAB7 [ NCBI-GEO ]   EFCAB7 [ EBI - ARRAY_EXPRESS ]   EFCAB7 [ SEEK ]   EFCAB7 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84455
GTEX Portal (Tissue expression)EFCAB7
Human Protein AtlasENSG00000203965-EFCAB7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8K855   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8K855  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8K855
Splice isoforms : SwissVarA8K855
PhosPhoSitePlusA8K855
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)EFCAB7
DMDM Disease mutations84455
Blocks (Seattle)EFCAB7
SuperfamilyA8K855
Human Protein Atlas [tissue]ENSG00000203965-EFCAB7 [tissue]
Peptide AtlasA8K855
HPRD17226
IPIIPI00303317   IPI00885200   
Protein Interaction databases
DIP (DOE-UCLA)A8K855
IntAct (EBI)A8K855
FunCoupENSG00000203965
BioGRIDEFCAB7
STRING (EMBL)EFCAB7
ZODIACEFCAB7
Ontologies - Pathways
QuickGOA8K855
Ontology : AmiGOcalcium ion binding  cilium  extrinsic component of membrane  positive regulation of protein import into nucleus  positive regulation of transcription by RNA polymerase II  ciliary membrane  plasma membrane protein complex  positive regulation of protein localization to ciliary membrane  
Ontology : EGO-EBIcalcium ion binding  cilium  extrinsic component of membrane  positive regulation of protein import into nucleus  positive regulation of transcription by RNA polymerase II  ciliary membrane  plasma membrane protein complex  positive regulation of protein localization to ciliary membrane  
NDEx NetworkEFCAB7
Atlas of Cancer Signalling NetworkEFCAB7
Wikipedia pathwaysEFCAB7
Orthology - Evolution
OrthoDB84455
GeneTree (enSembl)ENSG00000203965
Phylogenetic Trees/Animal Genes : TreeFamEFCAB7
HOGENOMA8K855
Homologs : HomoloGeneEFCAB7
Homology/Alignments : Family Browser (UCSC)EFCAB7
Gene fusions - Rearrangements
Fusion : QuiverEFCAB7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB7
dbVarEFCAB7
ClinVarEFCAB7
1000_GenomesEFCAB7 
Exome Variant ServerEFCAB7
ExAC (Exome Aggregation Consortium)ENSG00000203965
GNOMAD BrowserENSG00000203965
Varsome BrowserEFCAB7
Genetic variants : HAPMAP84455
Genomic Variants (DGV)EFCAB7 [DGVbeta]
DECIPHEREFCAB7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB7 
Mutations
ICGC Data PortalEFCAB7 
TCGA Data PortalEFCAB7 
Broad Tumor PortalEFCAB7
OASIS PortalEFCAB7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEFCAB7
Mutations and Diseases : HGMDEFCAB7
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 EFCAB7
DgiDB (Drug Gene Interaction Database)EFCAB7
DoCM (Curated mutations)EFCAB7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB7 (select a term)
intoGenEFCAB7
Cancer3DEFCAB7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617632   
Orphanet
DisGeNETEFCAB7
MedgenEFCAB7
Genetic Testing Registry EFCAB7
NextProtA8K855 [Medical]
TSGene84455
GENETestsEFCAB7
Target ValidationEFCAB7
Huge Navigator EFCAB7 [HugePedia]
snp3D : Map Gene to Disease84455
BioCentury BCIQEFCAB7
ClinGenEFCAB7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84455
Chemical/Pharm GKB GenePA162384389
Clinical trialEFCAB7
Miscellaneous
canSAR (ICR)EFCAB7 (select the gene name)
DataMed IndexEFCAB7
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB7
EVEXEFCAB7
GoPubMedEFCAB7
iHOPEFCAB7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:26:31 CEST 2019
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