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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for TH |
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Phenotypic Information for TH(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: TH |
Familial Cancer Database: TH |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
KEGG_TYROSINE_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Others | |
OMIM | 191290; gene. 191290; gene. 605407; phenotype. 605407; phenotype. |
Orphanet | 101150; Autosomal recessive dopa-responsive dystonia. 101150; Autosomal recessive dopa-responsive dystonia. |
Disease | KEGG Disease: TH |
MedGen: TH (Human Medical Genetics with Condition) | |
ClinVar: TH | |
Phenotype | MGI: TH (International Mouse Phenotyping Consortium) |
PhenomicDB: TH |
Mutations for TH |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows TH related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=33) | (# total SNVs=18) |
(# total SNVs=1) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr11:2189733-2189733 | p.A190S | 2 |
chr11:2186909-2186909 | p.G428W | 2 |
chr11:2193002-2193002 | p.D5D | 2 |
chr11:2193005-2193005 | p.P4P | 2 |
chr11:2189794-2189794 | p.R169R | 2 |
chr11:2188238-2188238 | p.K271K | 2 |
chr11:2185608-2185608 | p.R481H | 2 |
chr11:2191098-2191098 | p.P63T | 2 |
chr11:2186500-2186500 | p.F463F | 2 |
chr11:2186573-2186573 | p.E439A | 2 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 1 |   | 6 | 1 |   | 2 |   |   |   |   | 5 | 4 | 1 |   |   | 11 | 4 |   | 3 |
# mutation |   | 1 |   | 7 | 1 |   | 2 |   |   |   |   | 5 | 4 | 1 |   |   | 12 | 5 |   | 4 |
nonsynonymous SNV |   | 1 |   | 2 |   |   | 1 |   |   |   |   | 4 | 2 | 1 |   |   | 9 | 2 |   | 3 |
synonymous SNV |   |   |   | 5 | 1 |   | 1 |   |   |   |   | 1 | 2 |   |   |   | 3 | 3 |   | 1 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr11:2191098 | p.P32T,TH | 2 |
chr11:2186990 | p.D439D,TH | 1 |
chr11:2189848 | p.R137R,TH | 1 |
chr11:2185590 | p.F432F,TH | 1 |
chr11:2193002 | p.G125A,TH | 1 |
chr11:2188139 | p.A417A,TH | 1 |
chr11:2190907 | p.R120R,TH | 1 |
chr11:2185600 | p.L403L,TH | 1 |
chr11:2193006 | p.A95A,TH | 1 |
chr11:2188191 | p.G397R,TH | 1 |
Other DBs for Point Mutations |
Copy Number for TH in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for TH |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
AP1G2,C14orf93,DCAF11,FBP1,GHDC,GMPR2,HAUS4, HOMEZ,HSD17B8,LRP10,MDP1,ZNF205-AS1,NEDD8,RAB17, RBM23,RNF31,SDR39U1,THTPA,TINF2,TM9SF1,WDR25 | AARS,ACAD9,ASCC2,BCAP31,CRELD1,GRHPR,HINT2, HOOK2,IFI27L1,ITFG3,KLHL22,LOC729991,MRPL24,NME4, POLR2L,PRR5,PSMD8,SNX17,THTPA,TST,UROD | ||||
AP4S1,APEX1,DNAAF2,TMEM251,C14orf119,CCDC71,CHMP4A, GMPR2,LOC100009676,MDP1,MGAT2,NEDD8,NGDN,PSMB5, RBM23,SCAF11___GEMIN2___ZEB2,THTPA,TINF2,TMEM55B,TOX4,TTC5 | AIP,AMZ2,ARL2,BBS4,BCL7C,BOLA1,FAM216A, C1orf54,C6orf1,CAMLG,CUEDC2,MPV17,MRPL40,MYL6B, SNAPIN,SNRPN,THTPA,TMSB15B,TRMT112,UROD,ZNF32 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for TH |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P07101; -. |
Chemistry | ChEMBL | CHEMBL1969; -. |
Chemistry | GuidetoPHARMACOLOGY | 1243; -. |
Chemistry | BindingDB | P07101; -. |
Chemistry | ChEMBL | CHEMBL1969; -. |
Chemistry | GuidetoPHARMACOLOGY | 1243; -. |
Organism-specific databases | PharmGKB | PA351; -. |
Organism-specific databases | PharmGKB | PA351; -. |
Organism-specific databases | CTD | 7054; -. |
Organism-specific databases | CTD | 7054; -. |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00120 | tyrosine hydroxylase | approved; nutraceutical | L-Phenylalanine | ||
DB00135 | tyrosine hydroxylase | approved; nutraceutical | L-Tyrosine | ||
DB00360 | tyrosine hydroxylase | approved; investigational | Tetrahydrobiopterin | ||
DB00765 | tyrosine hydroxylase | approved | Metyrosine | ||
DB03552 | tyrosine hydroxylase | experimental | Meta-Tyrosine | ||
DB04400 | tyrosine hydroxylase | experimental | 7,8-Dihydrobiopterin | ||
DB01394 | tyrosine hydroxylase | approved | Colchicine | ||
DB00988 | tyrosine hydroxylase | approved | Dopamine | ||
DB00864 | tyrosine hydroxylase | approved; investigational | Tacrolimus | ||
DB01235 | tyrosine hydroxylase | approved | Levodopa | ||
DB00368 | tyrosine hydroxylase | approved | Norepinephrine |
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Cross referenced IDs for TH |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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