Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HPD (4-hydroxyphenylpyruvate dioxygenase)

Identity

Alias_namesPPD
Alias_symbol (synonym)4-HPPD
4HPPD
GLOD3
Other aliasHPPDASE
HGNC (Hugo) HPD
LocusID (NCBI) 3242
Atlas_Id 64413
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121839527 and ends at 121888611 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)
ADAM19 (5q33.3) / HPD (12q24.31)HPD (12q24.31) / HPD (12q24.31)LARP4 (12q13.12) / HPD (12q24.31)

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) [ 1 ]
  t(12;12)(q13;q24) LARP4/HPD

External links

Nomenclature
HGNC (Hugo)HPD   5147
Cards
Entrez_Gene (NCBI)HPD  3242  4-hydroxyphenylpyruvate dioxygenase
Aliases4-HPPD; 4HPPD; GLOD3; HPPDASE; 
PPD
GeneCards (Weizmann)HPD
Ensembl hg19 (Hinxton)ENSG00000158104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158104 [Gene_View]  chr12:121839527-121888611 [Contig_View]  HPD [Vega]
ICGC DataPortalENSG00000158104
TCGA cBioPortalHPD
AceView (NCBI)HPD
Genatlas (Paris)HPD
WikiGenes3242
SOURCE (Princeton)HPD
Genetics Home Reference (NIH)HPD
Genomic and cartography
GoldenPath hg38 (UCSC)HPD  -     chr12:121839527-121888611 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HPD  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblHPD - 12q24.31 [CytoView hg19]  HPD - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIHPD [Mapview hg19]  HPD [Mapview hg38]
OMIM140350   276710   609695   
Gene and transcription
Genbank (Entrez)AK057510 AK290826 BC014790 BC024287 CD675915
RefSeq transcript (Entrez)NM_001171993 NM_002150
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HPD
Cluster EST : UnigeneHs.2899 [ NCBI ]
CGAP (NCI)Hs.2899
Alternative Splicing GalleryENSG00000158104
Gene ExpressionHPD [ NCBI-GEO ]   HPD [ EBI - ARRAY_EXPRESS ]   HPD [ SEEK ]   HPD [ MEM ]
Gene Expression Viewer (FireBrowse)HPD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3242
GTEX Portal (Tissue expression)HPD
Human Protein AtlasENSG00000158104-HPD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32754   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32754  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32754
Splice isoforms : SwissVarP32754
Catalytic activity : Enzyme1.13.11.27 [ Enzyme-Expasy ]   1.13.11.271.13.11.27 [ IntEnz-EBI ]   1.13.11.27 [ BRENDA ]   1.13.11.27 [ KEGG ]   
PhosPhoSitePlusP32754
Domaine pattern : Prosite (Expaxy)VOC (PS51819)   
Domains : Interpro (EBI)4OHPhenylPyrv_dOase    Glyas_Bleomycin-R_OHBP_Dase    Glyas_Fos-R_dOase_dom   
Domain families : Pfam (Sanger)Glyoxalase (PF00903)   
Domain families : Pfam (NCBI)pfam00903   
Conserved Domain (NCBI)HPD
DMDM Disease mutations3242
Blocks (Seattle)HPD
PDB (SRS)3ISQ    5EC3   
PDB (PDBSum)3ISQ    5EC3   
PDB (IMB)3ISQ    5EC3   
PDB (RSDB)3ISQ    5EC3   
Structural Biology KnowledgeBase3ISQ    5EC3   
SCOP (Structural Classification of Proteins)3ISQ    5EC3   
CATH (Classification of proteins structures)3ISQ    5EC3   
SuperfamilyP32754
Human Protein Atlas [tissue]ENSG00000158104-HPD [tissue]
Peptide AtlasP32754
HPRD02041
IPIIPI00218297   IPI00795913   
Protein Interaction databases
DIP (DOE-UCLA)P32754
IntAct (EBI)P32754
FunCoupENSG00000158104
BioGRIDHPD
STRING (EMBL)HPD
ZODIACHPD
Ontologies - Pathways
QuickGOP32754
Ontology : AmiGO###############################################################################################################################################################################################################################################################                          
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                          
Pathways : KEGGTyrosine metabolism    Phenylalanine metabolism   
NDEx NetworkHPD
Atlas of Cancer Signalling NetworkHPD
Wikipedia pathwaysHPD
Orthology - Evolution
OrthoDB3242
GeneTree (enSembl)ENSG00000158104
Phylogenetic Trees/Animal Genes : TreeFamHPD
HOVERGENP32754
HOGENOMP32754
Homologs : HomoloGeneHPD
Homology/Alignments : Family Browser (UCSC)HPD
Gene fusions - Rearrangements
Fusion : QuiverHPD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPD
dbVarHPD
ClinVarHPD
1000_GenomesHPD 
Exome Variant ServerHPD
ExAC (Exome Aggregation Consortium)ENSG00000158104
GNOMAD BrowserENSG00000158104
Genetic variants : HAPMAP3242
Genomic Variants (DGV)HPD [DGVbeta]
DECIPHERHPD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHPD 
Mutations
ICGC Data PortalHPD 
TCGA Data PortalHPD 
Broad Tumor PortalHPD
OASIS PortalHPD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPD
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 HPD
DgiDB (Drug Gene Interaction Database)HPD
DoCM (Curated mutations)HPD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPD (select a term)
intoGenHPD
Cancer3DHPD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM140350    276710    609695   
Orphanet503    10935   
DisGeNETHPD
MedgenHPD
Genetic Testing Registry HPD
NextProtP32754 [Medical]
TSGene3242
GENETestsHPD
Target ValidationHPD
Huge Navigator HPD [HugePedia]
snp3D : Map Gene to Disease3242
BioCentury BCIQHPD
ClinGenHPD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3242
Chemical/Pharm GKB GenePA29420
Clinical trialHPD
Miscellaneous
canSAR (ICR)HPD (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPD
EVEXHPD
GoPubMedHPD
iHOPHPD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:21:34 CET 2018
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