Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HECTD4 (HECT domain E3 ubiquitin protein ligase 4)

Identity

Alias_namesC12orf51
chromosome 12 open reading frame 51
HECT domain containing E3 ubiquitin protein ligase 4
Alias_symbol (synonym)FLJ34154
KIAA0614
Other aliasC12ord51
HEEL
POTAGE
HGNC (Hugo) HECTD4
LocusID (NCBI) 283450
Atlas_Id 55498
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 112160188 and ends at 112382092 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)
HECTD4 (12q24.13) / PEBP1 (12q24.23)HECTD4 (12q24.13) / REC114 (15q24.1)HECTD4 (12q24.13) / SBNO1 (12q24.31)
HECTD4 (12q24.13) / SRRM4 (12q24.23)IFT81 (12q24.11) / HECTD4 (12q24.13)OAS2 (12q24.13) / HECTD4 (12q24.13)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(12)(q24q24) IFT81/HECTD4


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  HECTD4/PEBP1 (12q24)
HECTD4/SBNO1 (12q24)
HECTD4/SRRM4 (12q24)
OAS2/HECTD4 (12q24)


External links

Nomenclature
HGNC (Hugo)HECTD4   26611
Cards
Entrez_Gene (NCBI)HECTD4  283450  HECT domain E3 ubiquitin protein ligase 4
AliasesC12ord51; C12orf51; HEEL; POTAGE
GeneCards (Weizmann)HECTD4
Ensembl hg19 (Hinxton)ENSG00000173064 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173064 [Gene_View]  ENSG00000173064 [Sequence]  chr12:112160188-112382092 [Contig_View]  HECTD4 [Vega]
ICGC DataPortalENSG00000173064
TCGA cBioPortalHECTD4
AceView (NCBI)HECTD4
Genatlas (Paris)HECTD4
WikiGenes283450
SOURCE (Princeton)HECTD4
Genetics Home Reference (NIH)HECTD4
Genomic and cartography
GoldenPath hg38 (UCSC)HECTD4  -     chr12:112160188-112382092 -  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HECTD4  -     12q24.13   [Description]    (hg19-Feb_2009)
EnsemblHECTD4 - 12q24.13 [CytoView hg19]  HECTD4 - 12q24.13 [CytoView hg38]
Mapping of homologs : NCBIHECTD4 [Mapview hg19]  HECTD4 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB014514 AB745119 AB745120 AB777655 AF086006
RefSeq transcript (Entrez)NM_001109662 NM_173813
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HECTD4
Cluster EST : UnigeneHs.530943 [ NCBI ]
CGAP (NCI)Hs.530943
Alternative Splicing GalleryENSG00000173064
Gene ExpressionHECTD4 [ NCBI-GEO ]   HECTD4 [ EBI - ARRAY_EXPRESS ]   HECTD4 [ SEEK ]   HECTD4 [ MEM ]
Gene Expression Viewer (FireBrowse)HECTD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283450
GTEX Portal (Tissue expression)HECTD4
Human Protein AtlasENSG00000173064-HECTD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4D8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4D8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4D8
Splice isoforms : SwissVarQ9Y4D8
Catalytic activity : Enzyme2.3.2.26 [ Enzyme-Expasy ]   2.3.2.262.3.2.26 [ IntEnz-EBI ]   2.3.2.26 [ BRENDA ]   2.3.2.26 [ KEGG ]   
PhosPhoSitePlusQ9Y4D8
Domaine pattern : Prosite (Expaxy)HECT (PS50237)   
Domains : Interpro (EBI)HECT_dom    Hect_E3_ubiquitin_ligase    SPRY_HECTD4   
Domain families : Pfam (Sanger)HECT (PF00632)   
Domain families : Pfam (NCBI)pfam00632   
Domain families : Smart (EMBL)HECTc (SM00119)  
Conserved Domain (NCBI)HECTD4
DMDM Disease mutations283450
Blocks (Seattle)HECTD4
SuperfamilyQ9Y4D8
Human Protein Atlas [tissue]ENSG00000173064-HECTD4 [tissue]
Peptide AtlasQ9Y4D8
HPRD08170
IPIIPI00942832   IPI01020688   IPI01022853   IPI01022735   IPI01021759   IPI01021451   IPI01021556   IPI00869000   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4D8
IntAct (EBI)Q9Y4D8
FunCoupENSG00000173064
BioGRIDHECTD4
STRING (EMBL)HECTD4
ZODIACHECTD4
Ontologies - Pathways
QuickGOQ9Y4D8
Ontology : AmiGOubiquitin-protein transferase activity  glucose metabolic process  integral component of membrane  protein ubiquitination  glucose homeostasis  
Ontology : EGO-EBIubiquitin-protein transferase activity  glucose metabolic process  integral component of membrane  protein ubiquitination  glucose homeostasis  
NDEx NetworkHECTD4
Atlas of Cancer Signalling NetworkHECTD4
Wikipedia pathwaysHECTD4
Orthology - Evolution
OrthoDB283450
GeneTree (enSembl)ENSG00000173064
Phylogenetic Trees/Animal Genes : TreeFamHECTD4
HOVERGENQ9Y4D8
HOGENOMQ9Y4D8
Homologs : HomoloGeneHECTD4
Homology/Alignments : Family Browser (UCSC)HECTD4
Gene fusions - Rearrangements
Fusion : QuiverHECTD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHECTD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HECTD4
dbVarHECTD4
ClinVarHECTD4
1000_GenomesHECTD4 
Exome Variant ServerHECTD4
ExAC (Exome Aggregation Consortium)ENSG00000173064
GNOMAD BrowserENSG00000173064
Varsome BrowserHECTD4
Genetic variants : HAPMAP283450
Genomic Variants (DGV)HECTD4 [DGVbeta]
DECIPHERHECTD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHECTD4 
Mutations
ICGC Data PortalHECTD4 
TCGA Data PortalHECTD4 
Broad Tumor PortalHECTD4
OASIS PortalHECTD4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDHECTD4
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 HECTD4
DgiDB (Drug Gene Interaction Database)HECTD4
DoCM (Curated mutations)HECTD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HECTD4 (select a term)
intoGenHECTD4
Cancer3DHECTD4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHECTD4
MedgenHECTD4
Genetic Testing Registry HECTD4
NextProtQ9Y4D8 [Medical]
TSGene283450
GENETestsHECTD4
Target ValidationHECTD4
Huge Navigator HECTD4 [HugePedia]
snp3D : Map Gene to Disease283450
BioCentury BCIQHECTD4
ClinGenHECTD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD283450
Chemical/Pharm GKB GenePA143485380
Clinical trialHECTD4
Miscellaneous
canSAR (ICR)HECTD4 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHECTD4
EVEXHECTD4
GoPubMedHECTD4
iHOPHECTD4
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 : Tue Nov 6 11:10:28 CET 2018

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