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| TissGeneSummary for PAH |
 Gene summary |
| Basic gene information | Gene symbol | PAH |
| Gene name | phenylalanine hydroxylase | |
| Synonyms | PH|PKU|PKU1 | |
| Cytomap | UCSC genome browser: 12q22-q24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000277.1, | |
| Description | phe-4-monooxygenasephenylalanine 4-monooxygenasephenylalanine-4-hydroxylase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 612349 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000171759 | ||
| HPRD : 08943 | ||
| Vega : OTTHUMG00000169966 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PAH | |
| BioGPS: 5053 | ||
| Pathway | NCI Pathway Interaction Database: PAH | |
| KEGG: PAH | ||
| REACTOME: PAH | ||
| Pathway Commons: PAH | ||
| Context | iHOP: PAH | |
| ligand binding site mutation search in PubMed: PAH | ||
| UCL Cancer Institute: PAH | ||
| 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) | KidneyLiver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHLIHC | |
| Reference showing the relevant tissue of PAH | ||
| Description by TissGene annotations | Cancer gene Significant down-regulated DEG TissgsKTS CNV lost TissGeneKTS | |
| * 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 PAH |
| 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 |
| LUAD | -1.880464663 | -4.05660087 | 2.176136207 | 1.76E-07 | 6.65E-07 |
| LIHC | 8.94253713 | 10.44170113 | -1.499164 | 1.05E-05 | 4.41E-05 |
| KIRP | 1.324652255 | 6.61934288 | -5.294690625 | 6.94E-07 | 3.64E-06 |
| COAD | -0.990397024 | -4.076027793 | 3.085630769 | 6.60E-06 | 3.14E-05 |
| THCA | -2.619962734 | -1.267423751 | -1.352538983 | 5.65E-09 | 2.91E-08 |
| KIRC | 1.690135241 | 5.260379685 | -3.570244444 | 8.23E-08 | 2.31E-07 |
| KICH | -0.15449887 | 4.91643313 | -5.070932 | 4.83E-06 | 1.61E-05 |
| LUSC | -2.948829301 | -4.003080282 | 1.05425098 | 0.000585 | 0.001125038 |
| Top |
| TissGene-miRNA for PAH |
| 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 PAH |
| TissGeneSNV for PAH |
| 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.S303F | SKCM | 3 |
| p.P211S | SKCM | 3 |
| p.R111Q | BLCA | 2 |
| p.E305K | SKCM | 2 |
| p.D415N | SKCM | 2 |
| p.V329L | LUAD | 1 |
| p.R111Q | SKCM | 1 |
| p.Y216N | BLCA | 1 |
| p.R241C | STAD | 1 |
| p.G257D | LGG | 1 |
| p.L213F | LUAD | 1 |
| p.E319X | KIRC | 1 |
| p.V190L | COAD | 1 |
| p.R261* | BLCA | 1 |
| p.L365F | SKCM | 1 |
| p.R243* | SKCM | 1 |
| p.K215M | COAD | 1 |
| p.I94T | BLCA | 1 |
| p.S196F | SKCM | 1 |
| p.R408W | SKCM | 1 |
| p.V45D | KIRC | 1 |
| p.R130K | READ | 1 |
| p.A322T | SARC | 1 |
| p.F191C | CESC | 1 |
| p.A322V | STAD | 1 |
| p.G442R | READ | 1 |
| p.K274M | GBM | 1 |
| p.P69S | BRCA | 1 |
| p.E78D | COAD | 1 |
| p.A104D | DLBC | 1 |
| p.G272R | HNSC | 1 |
| p.R53C | PAAD | 1 |
| p.G289R | SKCM | 1 |
| p.E286K | SKCM | 1 |
| p.K335E | ESCA | 1 |
| p.K192N | STAD | 1 |
| p.E221K | SKCM | 1 |
| p.D143Y | LUAD | 1 |
| p.V412A | KIRP | 1 |
| p.F299Y | LUAD | 1 |
| p.T193I | LIHC | 1 |
| p.L62R | ESCA | 1 |
| p.T186P | STAD | 1 |
| p.E182K | READ | 1 |
| p.L444F | SKCM | 1 |
| p.P279L | LUAD | 1 |
| p.E422K | SKCM | 1 |
| p.P409H | BRCA | 1 |
| p.I125F | KIRP | 1 |
| p.G344S | LUAD | 1 |
| p.A373V | ESCA | 1 |
| p.S295L | ESCA | 1 |
| p.V153G | HNSC | 1 |
| p.E316K | SKCM | 1 |
| p.A447V | HNSC | 1 |
| p.R111Q | UCEC | 1 |
| p.G10S | COAD | 1 |
| p.S23I | STAD | 1 |
| p.L385P | LUSC | 1 |
| p.R261Q | SKCM | 1 |
| p.E214* | BLCA | 1 |
| p.E228K | READ | 1 |
| p.E319* | KIRC | 1 |
| p.R297C | UCEC | 1 |
| p.R400T | ESCA | 1 |
| p.D425N | BLCA | 1 |
| p.R243* | OV | 1 |
| p.T236S | HNSC | 1 |
| p.S16F | LIHC | 1 |
| p.S67C | READ | 1 |
| p.V423A | COAD | 1 |
| p.R408W | PRAD | 1 |
| p.C445F | READ | 1 |
| p.H290Y | HNSC | 1 |
| p.M180L | BLCA | 1 |
| p.F80I | SKCM | 1 |
| p.R71H | BLCA | 1 |
| p.S40L | BLCA | 1 |
| p.F210Y | KIRP | 1 |
| p.A395S | LUSC | 1 |
| p.E280K | GBM | 1 |
| p.L136I | COAD | 1 |
| p.E368K | SARC | 1 |
| p.D151Y | COAD | 1 |
| p.R270T | HNSC | 1 |
| p.P9Q | SKCM | 1 |
| p.G247S | LUSC | 1 |
| p.K398N | SKCM | 1 |
| p.E381K | SKCM | 1 |
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| TissGeneCNV for PAH |
| 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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| Top |
| TissGeneFusions for PAH |
| 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 | FusionScan | BRCA | TCGA-BH-A0B7-01A | EEA1-PAH | In-Frame | chr12:93258635 | chr12:103249110 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-BH-A0B7-01A | EEA1-PAH | In-frame | Chr12:93258636 | Chr12:103249110 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-OL-A66I-01A | PAH-NINJ2 | In-frame | Chr12:103306569 | Chr12:675344 |
| TCGAfusionPortal | PRADA | PRAD | TCGA-XQ-A8TA-01A | ANAPC7-PAH | Out-of-frame | Chr12:110841332 | Chr12:103271328 |
| Top |
| TissGeneNet for PAH |
| 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) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| COAD (tumor) | COAD (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| HNSC (tumor) | HNSC (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| KICH (tumor) | KICH (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| KIRC (tumor) | KIRC (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| KIRP (tumor) | KIRP (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| LIHC (tumor) | LIHC (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| LUAD (tumor) | LUAD (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| LUSC (tumor) | LUSC (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| PRAD (tumor) | PRAD (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| STAD (tumor) | STAD (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| THCA (tumor) | THCA (normal) |
| PAH, PCBD1, RPS24, QDPR (tumor) | PAH, PCBD1, RPS24, QDPR (normal) |
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| Top |
| TissGeneProg for PAH |
| 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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| Top |
| TissGeneClin for PAH |
| TissGeneDrug for PAH |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00368 | Norepinephrine | Inhibitor | Small molecule | Approved |
| DB00360 | Sapropterin | Cofactor | Small molecule | Approved|Investigational |
| DB06262 | Droxidopa | Inhibitor | Small molecule | Approved|Investigational |
| DB00120 | L-Phenylalanine | Small molecule | Approved|Nutraceutical | |
| DB00668 | Epinephrine | Antagonist | Small molecule | Approved|Vet_approved |
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| TissGeneDisease for PAH |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0031485 | Phenylketonurias | 269 | BeFree,CLINVAR,CTD_human,GAD,LHGDN |
| umls:C0751434 | Classical phenylketonuria | 255 | BeFree,GAD,MGD,ORPHANET,UNIPROT |
| umls:C0751435 | Hyperphenylalaninaemia | 104 | BeFree,CLINVAR,GAD |
| umls:C0025517 | Metabolic Diseases | 13 | BeFree |
| umls:C0085547 | Phenylketonuria, Maternal | 8 | BeFree,ORPHANET |
| umls:C0023903 | Liver neoplasms | 7 | BeFree |
| umls:C2239176 | Liver carcinoma | 7 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 6 | BeFree |
| umls:C0036341 | Schizophrenia | 6 | BeFree,GAD |
| umls:C0152171 | Idiopathic pulmonary hypertension | 6 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 6 | BeFree |
| umls:C0678222 | Breast Carcinoma | 6 | BeFree |
| umls:C0684249 | Carcinoma of lung | 6 | BeFree |
| umls:C0596263 | Carcinogenesis | 5 | BeFree |
| umls:C0025362 | Mental Retardation | 4 | BeFree |
| umls:C0025521 | Inborn Errors of Metabolism | 4 | BeFree |
| umls:C0036857 | Severe mental retardation (I.Q. 20-34) | 4 | BeFree |
| umls:C2973725 | Pulmonary arterial hypertension | 4 | BeFree |
| umls:C3714844 | Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 4 | BeFree |
| umls:C0002514 | Amino Acid Metabolism, Inborn Errors | 3 | BeFree |
| umls:C0004352 | Autistic Disorder | 3 | BeFree,GAD |
| umls:C0015230 | Exanthema | 3 | BeFree |
| umls:C0268463 | Persistent hyperphenylalaninemia | 3 | BeFree |
| umls:C0848332 | Spots on skin | 3 | BeFree |
| umls:C0858970 | Carcinogenicity | 3 | BeFree |
| umls:C0004936 | Mental disorders | 2 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 2 | BeFree |
| umls:C0011253 | Delusions | 2 | BeFree |
| umls:C0016952 | Galactosemias | 2 | BeFree,GAD |
| umls:C0018524 | Hallucinations | 2 | BeFree,GAD |
| umls:C0042900 | Vitiligo | 2 | BeFree |
| umls:C0231367 | Activity intolerance | 2 | BeFree |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 2 | BeFree |
| umls:C0699885 | Carcinoma of bladder | 2 | BeFree |
| umls:C1847835 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 2 | BeFree |
| umls:C3203102 | Idiopathic pulmonary arterial hypertension | 2 | BeFree |
| umls:C0004096 | Asthma | 1 | BeFree |
| umls:C0004134 | Ataxia | 1 | BeFree |
| umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | BeFree |
| umls:C0010674 | Cystic Fibrosis | 1 | BeFree |
| umls:C0014859 | Esophageal Neoplasms | 1 | BeFree |
| umls:C0020459 | Hyperinsulinism | 1 | BeFree |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | BeFree |
| umls:C0024408 | Machado-Joseph Disease | 1 | BeFree |
| umls:C0025322 | Premature Menopause | 1 | BeFree |
| umls:C0027498 | Nausea and vomiting | 1 | BeFree |
| umls:C0030587 | Paroxysmal atrial tachycardia | 1 | BeFree |
| umls:C0041341 | Tuberous Sclerosis | 1 | BeFree |
| umls:C0042373 | Vascular Diseases | 1 | BeFree |
| umls:C0152018 | Esophageal carcinoma | 1 | BeFree |
| umls:C0152021 | Congenital heart disease | 1 | BeFree |
| umls:C0152115 | Lingual-Facial-Buccal Dyskinesia | 1 | BeFree,GAD |
| umls:C0162429 | Malnutrition | 1 | BeFree |
| umls:C0162739 | HELLP Syndrome | 1 | BeFree |
| umls:C0235031 | Neurologic Symptoms | 1 | BeFree |
| umls:C0264408 | Childhood asthma | 1 | BeFree |
| umls:C0268151 | Classical galactosemia | 1 | BeFree |
| umls:C0339573 | Glaucoma, Primary Open Angle | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | GAD |
| umls:C0393610 | Dystonia, Diurnal | 1 | BeFree |
| umls:C0524620 | Metabolic Syndrome X | 1 | BeFree |
| umls:C0546837 | Malignant neoplasm of esophagus | 1 | BeFree |
| umls:C0686347 | Tardive Dyskinesia | 1 | BeFree,GAD |
| umls:C0699790 | Colon Carcinoma | 1 | BeFree |
| umls:C0747102 | Ovarian failure | 1 | BeFree |
| umls:C1851920 | Dopa-Responsive Dystonia | 1 | BeFree |
| umls:C3714756 | Intellectual Disability | 1 | BeFree |
| umls:C2678416 | Hyperphenylalaninemia, Non-Pku Mild | 0 | CLINVAR |
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