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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 40139049 and ends at 40289794 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


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]  chr22:40139049-40289794 [Contig_View]  ENTHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000176177 [Gene_View]  chr22:40139049-40289794 [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 hg19 (UCSC)ENTHD1  -     chr22:40139049-40289794 -  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ENTHD1  -     22q13.1   [Description]    (hg38-Dec_2013)
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)NC_000022 NC_018933 NT_011520 NW_004929430
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150350
GTEX Portal (Tissue expression)ENTHD1
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 AtlasENSG00000176177
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: TCGAPOLR3H ENTHD1
Fusion: TCGAKREMEN1 ENTHD1
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)ENTHD1 (select the gene name)
Genetic variants : HAPMAP150350
Genomic Variants (DGV)ENTHD1 [DGVbeta]
DECIPHER (Syndromes)22:40139049-40289794  ENSG00000176177
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
MedgenENTHD1
Genetic Testing Registry ENTHD1
NextProtQ8IYW4 [Medical]
TSGene150350
GENETestsENTHD1
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

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indexed on : Tue Mar 14 12:02:54 CET 2017

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