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EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1)

Identity

Alias_symbol (synonym)KIAA1706
Other aliasHSPC107
HGNC (Hugo) EEPD1
LocusID (NCBI) 80820
Atlas_Id 50948
Location 7p14.2  [Link to chromosome band 7p14]
Location_base_pair Starts at 36153227 and ends at 36301543 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)
ANLN (7p14.2) / EEPD1 (7p14.2)FAM114A1 (4p14) / EEPD1 (7p14.2)PRPSAP2 (17p11.2) / EEPD1 (7p14.2)
ANLN 7p14.2 / EEPD1 7p14.2FAM114A1 4p14 / EEPD1 7p14.2PRPSAP2 17p11.2 / EEPD1 7p14.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(4;7)(p14;p14) FAM114A1/EEPD1
ANLN/EEPD1 (7p14)
t(7;17)(p14;p11) PRPSAP2/EEPD1


External links

Nomenclature
HGNC (Hugo)EEPD1   22223
Cards
Entrez_Gene (NCBI)EEPD1  80820  endonuclease/exonuclease/phosphatase family domain containing 1
AliasesHSPC107
GeneCards (Weizmann)EEPD1
Ensembl hg19 (Hinxton)ENSG00000122547 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122547 [Gene_View]  ENSG00000122547 [Sequence]  chr7:36153227-36301543 [Contig_View]  EEPD1 [Vega]
ICGC DataPortalENSG00000122547
TCGA cBioPortalEEPD1
AceView (NCBI)EEPD1
Genatlas (Paris)EEPD1
WikiGenes80820
SOURCE (Princeton)EEPD1
Genetics Home Reference (NIH)EEPD1
Genomic and cartography
GoldenPath hg38 (UCSC)EEPD1  -     chr7:36153227-36301543 +  7p14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EEPD1  -     7p14.2   [Description]    (hg19-Feb_2009)
EnsemblEEPD1 - 7p14.2 [CytoView hg19]  EEPD1 - 7p14.2 [CytoView hg38]
Mapping of homologs : NCBIEEPD1 [Mapview hg19]  EEPD1 [Mapview hg38]
OMIM617192   
Gene and transcription
Genbank (Entrez)AB051493 AF161370 AK027386 BC011692 BC065518
RefSeq transcript (Entrez)NM_030636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EEPD1
Cluster EST : UnigeneHs.670591 [ NCBI ]
CGAP (NCI)Hs.670591
Alternative Splicing GalleryENSG00000122547
Gene ExpressionEEPD1 [ NCBI-GEO ]   EEPD1 [ EBI - ARRAY_EXPRESS ]   EEPD1 [ SEEK ]   EEPD1 [ MEM ]
Gene Expression Viewer (FireBrowse)EEPD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80820
GTEX Portal (Tissue expression)EEPD1
Human Protein AtlasENSG00000122547-EEPD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L9B9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L9B9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L9B9
Splice isoforms : SwissVarQ7L9B9
PhosPhoSitePlusQ7L9B9
Domains : Interpro (EBI)Competence_ComEA_HhH    Endo/exonu/phosph_ase_sf    Hlx-hairpin-Hlx_DNA-bd_motif    RuvA_2-like   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)HhH1 (SM00278)  
Conserved Domain (NCBI)EEPD1
DMDM Disease mutations80820
Blocks (Seattle)EEPD1
SuperfamilyQ7L9B9
Human Protein Atlas [tissue]ENSG00000122547-EEPD1 [tissue]
Peptide AtlasQ7L9B9
HPRD13884
IPIIPI00885036   IPI00304661   IPI00925274   
Protein Interaction databases
DIP (DOE-UCLA)Q7L9B9
IntAct (EBI)Q7L9B9
FunCoupENSG00000122547
BioGRIDEEPD1
STRING (EMBL)EEPD1
ZODIACEEPD1
Ontologies - Pathways
QuickGOQ7L9B9
Ontology : AmiGODNA binding  DNA repair  
Ontology : EGO-EBIDNA binding  DNA repair  
NDEx NetworkEEPD1
Atlas of Cancer Signalling NetworkEEPD1
Wikipedia pathwaysEEPD1
Orthology - Evolution
OrthoDB80820
GeneTree (enSembl)ENSG00000122547
Phylogenetic Trees/Animal Genes : TreeFamEEPD1
HOVERGENQ7L9B9
HOGENOMQ7L9B9
Homologs : HomoloGeneEEPD1
Homology/Alignments : Family Browser (UCSC)EEPD1
Gene fusions - Rearrangements
Fusion : MitelmanANLN/EEPD1 [7p14.2/7p14.2]  [t(7;7)(p14;p14)]  
Fusion : MitelmanFAM114A1/EEPD1 [4p14/7p14.2]  [t(4;7)(p14;p14)]  
Fusion : MitelmanPRPSAP2/EEPD1 [17p11.2/7p14.2]  [t(7;17)(p14;p11)]  
Fusion PortalANLN 7p14.2 EEPD1 7p14.2 LUAD
Fusion PortalFAM114A1 4p14 EEPD1 7p14.2 LUSC
Fusion PortalPRPSAP2 17p11.2 EEPD1 7p14.2 LUAD
Fusion : QuiverEEPD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEEPD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EEPD1
dbVarEEPD1
ClinVarEEPD1
1000_GenomesEEPD1 
Exome Variant ServerEEPD1
ExAC (Exome Aggregation Consortium)ENSG00000122547
GNOMAD BrowserENSG00000122547
Varsome BrowserEEPD1
Genetic variants : HAPMAP80820
Genomic Variants (DGV)EEPD1 [DGVbeta]
DECIPHEREEPD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEEPD1 
Mutations
ICGC Data PortalEEPD1 
TCGA Data PortalEEPD1 
Broad Tumor PortalEEPD1
OASIS PortalEEPD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEEPD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEEPD1
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 EEPD1
DgiDB (Drug Gene Interaction Database)EEPD1
DoCM (Curated mutations)EEPD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EEPD1 (select a term)
intoGenEEPD1
Cancer3DEEPD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617192   
Orphanet
DisGeNETEEPD1
MedgenEEPD1
Genetic Testing Registry EEPD1
NextProtQ7L9B9 [Medical]
TSGene80820
GENETestsEEPD1
Target ValidationEEPD1
Huge Navigator EEPD1 [HugePedia]
snp3D : Map Gene to Disease80820
BioCentury BCIQEEPD1
ClinGenEEPD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80820
Chemical/Pharm GKB GenePA162384303
Clinical trialEEPD1
Miscellaneous
canSAR (ICR)EEPD1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEEPD1
EVEXEEPD1
GoPubMedEEPD1
iHOPEEPD1
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 Nov 6 11:03:55 CET 2018

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