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| TissGeneSummary for DBH |
 Gene summary |
| Basic gene information | Gene symbol | DBH |
| Gene name | dopamine beta-hydroxylase (dopamine beta-monooxygenase) | |
| Synonyms | DBM | |
| Cytomap | UCSC genome browser: 9q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000787.3, | |
| Description | dopamine beta-hydroxylase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 609312 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000123454 | ||
| HPRD : 01963 | ||
| Vega : OTTHUMG00000020878 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DBH | |
| BioGPS: 1621 | ||
| Pathway | NCI Pathway Interaction Database: DBH | |
| KEGG: DBH | ||
| REACTOME: DBH | ||
| Pathway Commons: DBH | ||
| Context | iHOP: DBH | |
| ligand binding site mutation search in PubMed: DBH | ||
| UCL Cancer Institute: DBH | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,TiGER | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BrainAdrenal gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGGPCPG,ACC | |
| Reference showing the relevant tissue of DBH | ||
| Description by TissGene annotations | Protective TissGene in RFS Have significant anti-correlated miRNA TissgsKTS Fused withTSGene | |
| * 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 DBH |
| 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 |
| LUSC | -1.88460293 | -0.060555871 | -1.824047059 | 1.97E-13 | 9.86E-13 |
| KIRC | -1.236480462 | 0.29540426 | -1.531884722 | 6.62E-19 | 4.68E-18 |
| KICH | -2.695282851 | 0.371553149 | -3.066836 | 8.43E-16 | 2.09E-14 |
| LIHC | 0.974679149 | 5.930451149 | -4.955772 | 1.47E-23 | 1.92E-21 |
| THCA | -0.44033058 | 0.592889759 | -1.033220339 | 4.66E-07 | 1.85E-06 |
| KIRP | -1.458631851 | 0.826808774 | -2.285440625 | 1.38E-09 | 1.26E-08 |
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| TissGene-miRNA for DBH |
| 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 |
| THYM | hsa-miR-204-5p | MIMAT0000265 | 0.00033 | -0.32 | 122 |
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| TissGeneMut for DBH |
| TissGeneSNV for DBH |
| 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.E265K | SKCM | 2 |
| p.V370A | UCEC | 1 |
| p.R138K | UCEC | 1 |
| p.L386F | SKCM | 1 |
| p.P219S | SKCM | 1 |
| p.W63R | LUAD | 1 |
| p.W577X | SKCM | 1 |
| p.V276I | PRAD | 1 |
| p.G417E | SKCM | 1 |
| p.R358Q | PRAD | 1 |
| p.P200R | LGG | 1 |
| p.D427N | SKCM | 1 |
| p.A270T | LGG | 1 |
| p.H412Q | BRCA | 1 |
| p.D106N | COAD | 1 |
| p.R92H | UCEC | 1 |
| p.R329H | BLCA | 1 |
| p.E215A | UCS | 1 |
| p.P52L | SKCM | 1 |
| p.T498K | LUAD | 1 |
| p.A36S | LUAD | 1 |
| p.E250K | SKCM | 1 |
| p.G39D | SKCM | 1 |
| p.R350L | ESCA | 1 |
| p.D345N | UCEC | 1 |
| p.G459E | HNSC | 1 |
| p.P55Q | LUSC | 1 |
| p.D158N | KIRC | 1 |
| p.S9R | LUAD | 1 |
| p.P219S | SARC | 1 |
| p.A211V | PRAD | 1 |
| p.V276I | PAAD | 1 |
| p.A71V | SKCM | 1 |
| p.G316S | LUAD | 1 |
| p.I234V | BLCA | 1 |
| p.D472Y | ACC | 1 |
| p.S45N | BLCA | 1 |
| p.D274N | SKCM | 1 |
| p.G323W | LUAD | 1 |
| p.S209* | BLCA | 1 |
| p.E204K | SKCM | 1 |
| p.M89I | HNSC | 1 |
| p.P42L | SKCM | 1 |
| p.Q128* | LGG | 1 |
| p.A35D | LUAD | 1 |
| p.V85F | LUAD | 1 |
| p.S9I | LUAD | 1 |
| p.S40* | LUAD | 1 |
| p.R359C | UCEC | 1 |
| p.Q497H | UCEC | 1 |
| p.P48S | SKCM | 1 |
| p.A506S | LUAD | 1 |
| p.R572G | HNSC | 1 |
| p.R296H | UCEC | 1 |
| p.T228I | SKCM | 1 |
| p.V253I | LUSC | 1 |
| p.W104* | SKCM | 1 |
| p.V31F | ACC | 1 |
| p.G39S | SKCM | 1 |
| p.R243W | HNSC | 1 |
| p.S587F | SKCM | 1 |
| p.M273I | SKCM | 1 |
| p.A3T | STAD | 1 |
| p.G363E | SKCM | 1 |
| p.W104X | SKCM | 1 |
| p.R350H | UCEC | 1 |
| p.R448H | GBM | 1 |
| p.E486X | THYM | 1 |
| p.R572H | THYM | 1 |
| p.L197F | OV | 1 |
| p.R326K | ESCA | 1 |
| p.A113V | CESC | 1 |
| p.L299M | UCS | 1 |
| p.A506T | ESCA | 1 |
| p.P224H | UCEC | 1 |
| p.D345N | COAD | 1 |
| p.G368* | STAD | 1 |
| p.W577* | SKCM | 1 |
| p.D106N | SKCM | 1 |
| p.F558L | HNSC | 1 |
| p.S40L | STAD | 1 |
| p.I223T | COAD | 1 |
| p.Y49C | PRAD | 1 |
| p.A315V | PRAD | 1 |
| p.A270T | STAD | 1 |
| p.R178Q | BRCA | 1 |
| p.P42T | HNSC | 1 |
| p.V276I | BRCA | 1 |
| p.P140T | HNSC | 1 |
| p.A408T | STAD | 1 |
| p.G171R | SKCM | 1 |
| p.A113V | STAD | 1 |
| p.E525G | KIRC | 1 |
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| TissGeneCNV for DBH |
| 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 DBH |
| 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 | TopHat-Fusion | SARC | TCGA-DX-A23Z-01A | CIZ1-DBH | In-Frame | chr9:130947825 | chr9:136521658 |
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| TissGeneNet for DBH |
| 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) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
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| COAD (tumor) | COAD (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (tumor) | DBH, SP1, FOS, CREB1, YY1, PHOX2A, ITSN1 (normal) |
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| TissGeneProg for DBH |
| 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 DBH |
| TissGeneDrug for DBH |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00822 | Disulfiram | Inhibitor | Small molecule | Approved |
| DB00988 | Dopamine | Ligand | Small molecule | Approved |
| DB00126 | Vitamin C | Small molecule | Approved|Nutraceutical |
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| TissGeneDisease for DBH |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1263846 | Attention deficit hyperactivity disorder | 30 | BeFree,GAD |
| umls:C0036341 | Schizophrenia | 25 | BeFree,GAD |
| umls:C0001973 | Alcoholic Intoxication, Chronic | 9 | BeFree,GAD |
| umls:C0027819 | Neuroblastoma | 9 | BeFree,CTD_human |
| umls:C0149931 | Migraine Disorders | 8 | BeFree,GAD |
| umls:C0600427 | Cocaine Dependence | 7 | BeFree |
| umls:C0700095 | Central neuroblastoma | 6 | BeFree |
| umls:C0871189 | Psychotic symptom | 6 | BeFree |
| umls:C0004352 | Autistic Disorder | 5 | BeFree,GAD |
| umls:C0013423 | Dystonia Musculorum Deformans | 5 | BeFree |
| umls:C0028043 | Nicotine Dependence | 5 | BeFree,GAD |
| umls:C0031511 | Pheochromocytoma | 5 | BeFree,CTD_human |
| umls:C0040517 | Gilles de la Tourette syndrome | 5 | BeFree,GAD |
| umls:C1456784 | Paranoia | 5 | BeFree,CTD_human,GAD |
| umls:C0004936 | Mental disorders | 4 | BeFree |
| umls:C0005586 | Bipolar Disorder | 4 | BeFree |
| umls:C0030567 | Parkinson Disease | 4 | BeFree,GAD,LHGDN |
| umls:C0003944 | As If Personality | 3 | GAD |
| umls:C0011581 | Depressive disorder | 3 | BeFree,RGD |
| umls:C0020538 | Hypertensive disease | 3 | BeFree,GAD,LHGDN,RGD |
| umls:C0022716 | Menkes Kinky Hair Syndrome | 3 | BeFree |
| umls:C0041696 | Unipolar Depression | 3 | BeFree |
| umls:C0152115 | Lingual-Facial-Buccal Dyskinesia | 3 | BeFree |
| umls:C0393911 | Pure Autonomic Failure | 3 | BeFree |
| umls:C0525045 | Mood Disorders | 3 | BeFree |
| umls:C0686347 | Tardive Dyskinesia | 3 | BeFree |
| umls:C1269683 | Major Depressive Disorder | 3 | BeFree |
| umls:C0003469 | Anxiety Disorders | 2 | BeFree |
| umls:C0011570 | Mental Depression | 2 | BeFree |
| umls:C0013421 | Dystonia | 2 | BeFree |
| umls:C0023434 | Chronic Lymphocytic Leukemia | 2 | BeFree |
| umls:C0030975 | Perceptual Disorders | 2 | GAD |
| umls:C0038436 | Post-Traumatic Stress Disorder | 2 | BeFree,LHGDN |
| umls:C0085580 | Essential Hypertension | 2 | BeFree |
| umls:C0154723 | Migraine with Aura | 2 | BeFree,GAD |
| umls:C0221765 | Chronic schizophrenia | 2 | BeFree |
| umls:C0236663 | Alcohol withdrawal syndrome | 2 | BeFree,GAD |
| umls:C0342687 | dopamine beta hydroxylase deficiency | 2 | BeFree,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0393593 | Dystonia Disorders | 2 | BeFree |
| umls:C1275808 | Congenital central hypoventilation | 2 | BeFree |
| umls:C1839839 | MAJOR AFFECTIVE DISORDER 2 | 2 | BeFree |
| umls:C0001957 | Alcohol Withdrawal Delirium | 1 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 1 | GAD |
| umls:C0003123 | Anorexia | 1 | RGD |
| umls:C0003431 | Antisocial Personality Disorder | 1 | BeFree |
| umls:C0006111 | Brain Diseases | 1 | BeFree |
| umls:C0007222 | Cardiovascular Diseases | 1 | BeFree |
| umls:C0007786 | Brain Ischemia | 1 | RGD |
| umls:C0011573 | Endogenous depression | 1 | BeFree |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
| umls:C0014130 | Endocrine System Diseases | 1 | GAD |
| umls:C0014544 | Epilepsy | 1 | BeFree |
| umls:C0018801 | Heart failure | 1 | BeFree |
| umls:C0018802 | Congestive heart failure | 1 | BeFree |
| umls:C0020541 | Hypertension, Portal | 1 | RGD |
| umls:C0022658 | Kidney Diseases | 1 | BeFree |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | RGD |
| umls:C0025202 | melanoma | 1 | GAD |
| umls:C0025269 | Multiple Endocrine Neoplasia Type 2b | 1 | BeFree |
| umls:C0025322 | Premature Menopause | 1 | BeFree |
| umls:C0026267 | Mitral Valve Prolapse Syndrome | 1 | BeFree |
| umls:C0026769 | Multiple Sclerosis | 1 | GAD |
| umls:C0027765 | nervous system disorder | 1 | BeFree |
| umls:C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| umls:C0032002 | Pituitary Diseases | 1 | BeFree |
| umls:C0033975 | Psychotic Disorders | 1 | BeFree |
| umls:C0038454 | Cerebrovascular accident | 1 | GAD |
| umls:C0038525 | Subarachnoid Hemorrhage | 1 | GAD |
| umls:C0038586 | Substance Use Disorders | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0041341 | Tuberous Sclerosis | 1 | BeFree |
| umls:C0041671 | Attention Deficit Disorder | 1 | BeFree |
| umls:C0043094 | Weight Gain | 1 | GAD |
| umls:C0085215 | Ovarian Failure, Premature | 1 | BeFree |
| umls:C0087169 | Withdrawal Symptoms | 1 | BeFree |
| umls:C0151699 | Intracranial Hemorrhages | 1 | GAD |
| umls:C0270458 | Severe major depression with psychotic features | 1 | BeFree |
| umls:C0524851 | Neurodegenerative Disorders | 1 | BeFree |
| umls:C0679225 | multiple pathologies | 1 | BeFree |
| umls:C0687131 | Psychoticism | 1 | GAD |
| umls:C0743072 | Depression, psychotic | 1 | BeFree |
| umls:C0747249 | Paranoid ideation | 1 | BeFree,GAD |
| umls:C0751265 | Learning Disabilities | 1 | BeFree |
| umls:C0752207 | Familial Dystonia | 1 | BeFree |
| umls:C0752347 | Lewy Body Disease | 1 | BeFree |
| umls:C1145628 | Autonomic nervous system disorders | 1 | BeFree |
| umls:C1270972 | Mild cognitive disorder | 1 | BeFree |
| umls:C1299624 | Postural Orthostatic Tachycardia Syndrome | 1 | BeFree |
| umls:C1834570 | Myoclonic dystonia | 1 | BeFree |
| umls:C1842981 | NEUROTICISM | 1 | BeFree |
| umls:C2911647 | Weight Gain Adverse Event | 1 | GAD |
| umls:C2937358 | Cerebral Hemorrhage | 1 | GAD |
| umls:C3160718 | PARKINSON DISEASE, LATE-ONSET | 0 | CTD_human |
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