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| TissGeneSummary for HPD |
 Gene summary |
| Basic gene information | Gene symbol | HPD |
| Gene name | 4-hydroxyphenylpyruvate dioxygenase | |
| Synonyms | 4-HPPD|4HPPD|GLOD3|HPPDASE|PPD | |
| Cytomap | UCSC genome browser: 12q24.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001171993.1, NM_002150.2, | |
| Description | 4-hydroxyphenylpyruvic acid oxidaseglyoxalase domain containing 3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609695 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000158104 | ||
| HPRD : 02041 | ||
| Vega : OTTHUMG00000169081 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HPD | |
| BioGPS: 3242 | ||
| Pathway | NCI Pathway Interaction Database: HPD | |
| KEGG: HPD | ||
| REACTOME: HPD | ||
| Pathway Commons: HPD | ||
| Context | iHOP: HPD | |
| ligand binding site mutation search in PubMed: HPD | ||
| UCL Cancer Institute: HPD | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of HPD | ||
| Description by TissGene annotations | TissgsKTS | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for HPD |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LIHC | 10.05460294 | 12.26406694 | -2.209464 | 2.31E-05 | 8.94E-05 |
| LUAD | -1.746859959 | -0.085863408 | -1.660996552 | 8.79E-11 | 5.27E-10 |
| KIRP | 2.148246937 | 7.858034437 | -5.7097875 | 4.85E-10 | 4.81E-09 |
| BRCA | -2.360454817 | 0.492912727 | -2.853367544 | 4.78E-23 | 4.23E-22 |
| KICH | 0.568858937 | 6.296642937 | -5.727784 | 6.79E-09 | 3.75E-08 |
| KIRC | 2.036189993 | 6.642248326 | -4.606058333 | 7.44E-14 | 3.47E-13 |
| PRAD | -0.892856909 | 1.492100783 | -2.384957692 | 9.67E-16 | 1.55E-13 |
| LUSC | -1.514341298 | 0.579811643 | -2.094152941 | 3.92E-08 | 1.15E-07 |
| STAD | -1.251562438 | -0.071674938 | -1.1798875 | 0.00472 | 0.018365536 |
| BLCA | -1.990310958 | 1.391036411 | -3.381347368 | 1.04E-05 | 0.000199393 |
| COAD | -2.594103063 | -1.419553063 | -1.17455 | 3.38E-05 | 0.00013714 |
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| TissGene-miRNA for HPD |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for HPD |
| TissGeneSNV for HPD |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.E254K | SKCM | 1 |
| p.T23I | SKCM | 1 |
| p.Q298P | KIRP | 1 |
| p.E372Q | CESC | 1 |
| p.A33V | STAD | 1 |
| p.I96T | STAD | 1 |
| p.R240H | PAAD | 1 |
| p.G147E | SKCM | 1 |
| p.A76T | PRAD | 1 |
| p.N202S | LIHC | 1 |
| p.A267T | KIRC | 1 |
| p.I153V | LIHC | 1 |
| p.P339L | BRCA | 1 |
| p.G75S | SKCM | 1 |
| p.S54F | SKCM | 1 |
| p.P150T | BLCA | 1 |
| p.G26R | SKCM | 1 |
| p.Q108K | HNSC | 1 |
| p.E73K | THCA | 1 |
| p.T2K | THYM | 1 |
| p.L250F | LUAD | 1 |
| p.V310L | OV | 1 |
| p.L367R | UCEC | 1 |
| p.R279H | PAAD | 1 |
| p.F16S | KIRP | 1 |
| p.G53R | LGG | 1 |
| p.G221R | SARC | 1 |
| p.T2M | SKCM | 1 |
| p.E112K | THCA | 1 |
| p.N241S | LIHC | 1 |
| p.P189T | BLCA | 1 |
| p.Q69K | HNSC | 1 |
| p.F332L | HNSC | 1 |
| p.S20N | PAAD | 1 |
| p.Q302R | BLCA | 1 |
| p.I114V | LIHC | 1 |
| p.S293F | BLCA | 1 |
| p.M180I | READ | 1 |
| p.L328M | PRAD | 1 |
| p.S254F | BLCA | 1 |
| p.G14S | BLCA | 1 |
| p.T138M | COAD | 1 |
| p.S15F | SKCM | 1 |
| p.A115T | PRAD | 1 |
| p.A164V | COAD | 1 |
| p.A115T | KIRP | 1 |
| p.P292L | LUSC | 1 |
| p.A134V | PAAD | 1 |
| p.R279H | OV | 1 |
| p.S59N | PAAD | 1 |
| p.S172F | SKCM | 1 |
| p.T33M | STAD | 1 |
| p.R80W | STAD | 1 |
| p.G65R | SKCM | 1 |
| p.I57T | STAD | 1 |
| p.K172N | OV | 1 |
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| TissGeneCNV for HPD |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for HPD |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | CD614163 | ADAM19-HPD | chr5:156907969 | chr12:122285045 | |
| Chimerdb3.0 | ChiTaRs | NA | BP348274 | HPD-HPD | chr12:122296765 | chr12:122287652 | |
| TCGAfusionPortal | PRADA | PRAD | TCGA-YL-A8HO-01A | LARP4-HPD | In-frame | Chr12:50824353 | Chr12:122285120 |
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| TissGeneNet for HPD |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| COAD (tumor) | COAD (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| KICH (tumor) | KICH (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| STAD (tumor) | STAD (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| THCA (tumor) | THCA (normal) |
| HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (tumor) | HPD, UBC, CDKN1A, SUMO2, IKBKG, SUMO1, HOXD4, HIVEP1, UBA2, HRSP12, RFWD2, SAE1 (normal) |
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| TissGeneProg for HPD |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for HPD |
| TissGeneDrug for HPD |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for HPD |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1851920 | Dopa-Responsive Dystonia | 5 | BeFree |
| umls:C0041296 | Tuberculosis | 4 | BeFree |
| umls:C0268623 | Tyrosinemia, Type III | 4 | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT |
| umls:C0013421 | Dystonia | 2 | BeFree |
| umls:C0020445 | Hypercholesterolemia, Familial | 2 | BeFree |
| umls:C0021400 | Influenza | 2 | BeFree |
| umls:C0041327 | Tuberculosis, Pulmonary | 2 | BeFree |
| umls:C0265220 | Pallister-Hall syndrome | 2 | BeFree |
| umls:C0268490 | Tyrosinemia, Type I | 2 | BeFree |
| umls:C0345354 | Radial polydactyly | 2 | BeFree |
| umls:C0393593 | Dystonia Disorders | 2 | BeFree |
| umls:C0860207 | Drug-Induced Liver Injury | 2 | CTD_human |
| umls:C2931042 | Hawkinsinuria | 2 | BeFree,CLINVAR,CTD_human,ORPHANET |
| umls:C0007222 | Cardiovascular Diseases | 1 | BeFree |
| umls:C0017563 | Gingival Diseases | 1 | BeFree |
| umls:C0017668 | Focal glomerulosclerosis | 1 | BeFree |
| umls:C0019348 | Herpes Simplex Infections | 1 | BeFree |
| umls:C0022658 | Kidney Diseases | 1 | BeFree |
| umls:C0023890 | Liver Cirrhosis | 1 | BeFree |
| umls:C0031090 | Periodontal Diseases | 1 | BeFree |
| umls:C0036341 | Schizophrenia | 1 | BeFree |
| umls:C0039075 | Syndactyly | 1 | BeFree |
| umls:C0041309 | Tuberculosis, Cutaneous | 1 | BeFree |
| umls:C0041318 | Tuberculosis, Meningeal | 1 | BeFree |
| umls:C0085568 | Buruli Ulcer | 1 | BeFree |
| umls:C0151332 | Active tuberculosis | 1 | BeFree |
| umls:C0152427 | Polydactyly | 1 | BeFree |
| umls:C0220697 | POLYDACTYLY, POSTAXIAL | 1 | BeFree |
| umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
| umls:C0268483 | Tyrosinemias | 1 | BeFree,CTD_human |
| umls:C0278134 | Absence of sensation | 1 | BeFree |
| umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
| umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
| umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
| umls:C0375023 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0525045 | Mood Disorders | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0751435 | Hyperphenylalaninaemia | 1 | BeFree |
| umls:C1609538 | Latent Tuberculosis | 1 | BeFree |
| umls:C1654637 | androgen independent prostate cancer | 1 | BeFree |
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