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EFCC1 (EF-hand and coiled-coil domain containing 1)

Identity

Alias_namesC3orf73
CCDC48
chromosome 3 open reading frame 73
coiled-coil domain containing 48
Alias_symbol (synonym)FLJ12057
Other alias
HGNC (Hugo) EFCC1
LocusID (NCBI) 79825
Atlas_Id 62746
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 128720472 and ends at 128759585 bp from pter ( according to hg19-Feb_2009)

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)EFCC1   25692
Cards
Entrez_Gene (NCBI)EFCC1  79825  EF-hand and coiled-coil domain containing 1
AliasesC3orf73; CCDC48
GeneCards (Weizmann)EFCC1
Ensembl hg19 (Hinxton)ENSG00000114654 [Gene_View]  chr3:128720472-128759585 [Contig_View]  EFCC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114654 [Gene_View]  chr3:128720472-128759585 [Contig_View]  EFCC1 [Vega]
ICGC DataPortalENSG00000114654
TCGA cBioPortalEFCC1
AceView (NCBI)EFCC1
Genatlas (Paris)EFCC1
WikiGenes79825
SOURCE (Princeton)EFCC1
Genetics Home Reference (NIH)EFCC1
Genomic and cartography
GoldenPath hg19 (UCSC)EFCC1  -     chr3:128720472-128759585 +  3q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFCC1  -     3q21.3   [Description]    (hg38-Dec_2013)
EnsemblEFCC1 - 3q21.3 [CytoView hg19]  EFCC1 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIEFCC1 [Mapview hg19]  EFCC1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK022115 AK022119 BC093800 BC112195 BX649124
RefSeq transcript (Entrez)NM_024768
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)EFCC1
Cluster EST : UnigeneHs.134807 [ NCBI ]
CGAP (NCI)Hs.134807
Alternative Splicing GalleryENSG00000114654
Gene ExpressionEFCC1 [ NCBI-GEO ]   EFCC1 [ EBI - ARRAY_EXPRESS ]   EFCC1 [ SEEK ]   EFCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79825
GTEX Portal (Tissue expression)EFCC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HA90   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HA90  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HA90
Splice isoforms : SwissVarQ9HA90
PhosPhoSitePlusQ9HA90
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF_hand_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EFCC1
DMDM Disease mutations79825
Blocks (Seattle)EFCC1
SuperfamilyQ9HA90
Human Protein AtlasENSG00000114654
Peptide AtlasQ9HA90
HPRD08569
IPIIPI00946049   IPI00944556   
Protein Interaction databases
DIP (DOE-UCLA)Q9HA90
IntAct (EBI)Q9HA90
FunCoupENSG00000114654
BioGRIDEFCC1
STRING (EMBL)EFCC1
ZODIACEFCC1
Ontologies - Pathways
QuickGOQ9HA90
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCC1
Atlas of Cancer Signalling NetworkEFCC1
Wikipedia pathwaysEFCC1
Orthology - Evolution
OrthoDB79825
GeneTree (enSembl)ENSG00000114654
Phylogenetic Trees/Animal Genes : TreeFamEFCC1
HOVERGENQ9HA90
HOGENOMQ9HA90
Homologs : HomoloGeneEFCC1
Homology/Alignments : Family Browser (UCSC)EFCC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCC1
dbVarEFCC1
ClinVarEFCC1
1000_GenomesEFCC1 
Exome Variant ServerEFCC1
ExAC (Exome Aggregation Consortium)EFCC1 (select the gene name)
Genetic variants : HAPMAP79825
Genomic Variants (DGV)EFCC1 [DGVbeta]
DECIPHER (Syndromes)3:128720472-128759585  ENSG00000114654
CONAN: Copy Number AnalysisEFCC1 
Mutations
ICGC Data PortalEFCC1 
TCGA Data PortalEFCC1 
Broad Tumor PortalEFCC1
OASIS PortalEFCC1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEFCC1
BioMutasearch EFCC1
DgiDB (Drug Gene Interaction Database)EFCC1
DoCM (Curated mutations)EFCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCC1 (select a term)
intoGenEFCC1
Cancer3DEFCC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFCC1
Genetic Testing Registry EFCC1
NextProtQ9HA90 [Medical]
TSGene79825
GENETestsEFCC1
Huge Navigator EFCC1 [HugePedia]
snp3D : Map Gene to Disease79825
BioCentury BCIQEFCC1
ClinGenEFCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79825
Chemical/Pharm GKB GenePA142672165
Clinical trialEFCC1
Miscellaneous
canSAR (ICR)EFCC1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCC1
EVEXEFCC1
GoPubMedEFCC1
iHOPEFCC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:02:35 CET 2017

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