Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ENTHD1 (ENTH domain containing 1)

Identity

Alias_symbol (synonym)FLJ25421
Other aliasCACNA1I
dJ370M22.3
HGNC (Hugo) ENTHD1
LocusID (NCBI) 150350
Atlas_Id 62839
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 39743044 and ends at 39893790 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)
KREMEN1 (22q12.1) / ENTHD1 (22q13.1)POLR3H (22q13.2) / ENTHD1 (22q13.1)POLR3H ENTHD1
KREMEN1 ENTHD1

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) [ 2 ]
  t(22;22)(q12;q13) KREMEN1/ENTHD1
t(22;22)(q13;q13) POLR3H/ENTHD1


External links

Nomenclature
HGNC (Hugo)ENTHD1   26352
Cards
Entrez_Gene (NCBI)ENTHD1  150350  ENTH domain containing 1
AliasesCACNA1I; dJ370M22.3
GeneCards (Weizmann)ENTHD1
Ensembl hg19 (Hinxton)ENSG00000176177 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176177 [Gene_View]  chr22:39743044-39893790 [Contig_View]  ENTHD1 [Vega]
ICGC DataPortalENSG00000176177
TCGA cBioPortalENTHD1
AceView (NCBI)ENTHD1
Genatlas (Paris)ENTHD1
WikiGenes150350
SOURCE (Princeton)ENTHD1
Genetics Home Reference (NIH)ENTHD1
Genomic and cartography
GoldenPath hg38 (UCSC)ENTHD1  -     chr22:39743044-39893790 -  22q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ENTHD1  -     22q13.1   [Description]    (hg19-Feb_2009)
EnsemblENTHD1 - 22q13.1 [CytoView hg19]  ENTHD1 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIENTHD1 [Mapview hg19]  ENTHD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK058150 AK093154 BC033895 CR456452 JF432529
RefSeq transcript (Entrez)NM_152512
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ENTHD1
Cluster EST : UnigeneHs.474869 [ NCBI ]
CGAP (NCI)Hs.474869
Alternative Splicing GalleryENSG00000176177
Gene ExpressionENTHD1 [ NCBI-GEO ]   ENTHD1 [ EBI - ARRAY_EXPRESS ]   ENTHD1 [ SEEK ]   ENTHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)ENTHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150350
GTEX Portal (Tissue expression)ENTHD1
Human Protein AtlasENSG00000176177-ENTHD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYW4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYW4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYW4
Splice isoforms : SwissVarQ8IYW4
PhosPhoSitePlusQ8IYW4
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)   
Domains : Interpro (EBI)ENTH    ENTH_VHS   
Domain families : Pfam (Sanger)ENTH (PF01417)   
Domain families : Pfam (NCBI)pfam01417   
Domain families : Smart (EMBL)ENTH (SM00273)  
Conserved Domain (NCBI)ENTHD1
DMDM Disease mutations150350
Blocks (Seattle)ENTHD1
SuperfamilyQ8IYW4
Human Protein Atlas [tissue]ENSG00000176177-ENTHD1 [tissue]
Peptide AtlasQ8IYW4
HPRD08063
IPIIPI00217897   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYW4
IntAct (EBI)Q8IYW4
FunCoupENSG00000176177
BioGRIDENTHD1
STRING (EMBL)ENTHD1
ZODIACENTHD1
Ontologies - Pathways
QuickGOQ8IYW4
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkENTHD1
Atlas of Cancer Signalling NetworkENTHD1
Wikipedia pathwaysENTHD1
Orthology - Evolution
OrthoDB150350
GeneTree (enSembl)ENSG00000176177
Phylogenetic Trees/Animal Genes : TreeFamENTHD1
HOVERGENQ8IYW4
HOGENOMQ8IYW4
Homologs : HomoloGeneENTHD1
Homology/Alignments : Family Browser (UCSC)ENTHD1
Gene fusions - Rearrangements
Fusion: TCGA_MDACCPOLR3H ENTHD1
Fusion: TCGA_MDACCKREMEN1 ENTHD1
Fusion PortalPOLR3H ENTHD1
Fusion PortalKREMEN1 ENTHD1
Fusion : QuiverENTHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENTHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENTHD1
dbVarENTHD1
ClinVarENTHD1
1000_GenomesENTHD1 
Exome Variant ServerENTHD1
ExAC (Exome Aggregation Consortium)ENSG00000176177
GNOMAD BrowserENSG00000176177
Genetic variants : HAPMAP150350
Genomic Variants (DGV)ENTHD1 [DGVbeta]
DECIPHERENTHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisENTHD1 
Mutations
ICGC Data PortalENTHD1 
TCGA Data PortalENTHD1 
Broad Tumor PortalENTHD1
OASIS PortalENTHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENTHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENTHD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ENTHD1
DgiDB (Drug Gene Interaction Database)ENTHD1
DoCM (Curated mutations)ENTHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENTHD1 (select a term)
intoGenENTHD1
Cancer3DENTHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETENTHD1
MedgenENTHD1
Genetic Testing Registry ENTHD1
NextProtQ8IYW4 [Medical]
TSGene150350
GENETestsENTHD1
Target ValidationENTHD1
Huge Navigator ENTHD1 [HugePedia]
snp3D : Map Gene to Disease150350
BioCentury BCIQENTHD1
ClinGenENTHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD150350
Chemical/Pharm GKB GenePA145148940
Clinical trialENTHD1
Miscellaneous
canSAR (ICR)ENTHD1 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENTHD1
EVEXENTHD1
GoPubMedENTHD1
iHOPENTHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Feb 23 18:17:24 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.