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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for PNMT |
Basic gene info. | Gene symbol | PNMT |
Gene name | phenylethanolamine N-methyltransferase | |
Synonyms | PENT|PNMTase | |
Cytomap | UCSC genome browser: 17q12 | |
Genomic location | chr17 :37824506-37826728 | |
Type of gene | protein-coding | |
RefGenes | NM_002686.4, NR_073461.1, | |
Ensembl id | ENSG00000141744 | |
Description | noradrenaline N-methyltransferasephenylethanolamine N-methylase | |
Modification date | 20141207 | |
dbXrefs | MIM : 171190 | |
HGNC : HGNC | ||
HPRD : 07176 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PNMT | |
BioGPS: 5409 | ||
Gene Expression Atlas: ENSG00000141744 | ||
The Human Protein Atlas: ENSG00000141744 | ||
Pathway | NCI Pathway Interaction Database: PNMT | |
KEGG: PNMT | ||
REACTOME: PNMT | ||
ConsensusPathDB | ||
Pathway Commons: PNMT | ||
Metabolism | MetaCyc: PNMT | |
HUMANCyc: PNMT | ||
Regulation | Ensembl's Regulation: ENSG00000141744 | |
miRBase: chr17 :37,824,506-37,826,728 | ||
TargetScan: NM_002686 | ||
cisRED: ENSG00000141744 | ||
Context | iHOP: PNMT | |
cancer metabolism search in PubMed: PNMT | ||
UCL Cancer Institute: PNMT | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for PNMT(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: PNMT |
Familial Cancer Database: PNMT |
* 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 | |
Orphanet | |
Disease | KEGG Disease: PNMT |
MedGen: PNMT (Human Medical Genetics with Condition) | |
ClinVar: PNMT | |
Phenotype | MGI: PNMT (International Mouse Phenotyping Consortium) |
PhenomicDB: PNMT |
Mutations for PNMT |
* 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 PNMT 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 |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   |   |   |   |   |   |   |   | 1 |   |   |   | 2 |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   | 1 |   |   |   | 2 |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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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=10) | (# total SNVs=7) |
(# total SNVs=1) | (# total SNVs=1) |
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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 |
chr17:37826401-37826401 | p.T203M | 2 |
chr17:37824917-37824917 | p.Q63H | 2 |
chr17:37826527-37826527 | p.R245H | 2 |
chr17:37825897-37825897 | p.R73H | 2 |
chr17:37826360-37826360 | p.P189P | 2 |
chr17:37826577-37826577 | p.L262F | 1 |
chr17:37825990-37825990 | p.E104G | 1 |
chr17:37826411-37826411 | p.R206R | 1 |
chr17:37826627-37826627 | p.Q278H | 1 |
chr17:37825994-37825994 | p.V105V | 1 |
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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 |   | 2 |   |   | 2 |   | 1 |   |   | 1 | 3 | 1 |   |   | 5 | 8 |   | 1 |
# mutation |   | 1 |   | 2 |   |   | 2 |   | 1 |   |   | 1 | 3 | 1 |   |   | 5 | 7 |   | 1 |
nonsynonymous SNV |   |   |   | 2 |   |   | 1 |   |   |   |   |   | 2 |   |   |   | 4 | 7 |   | 1 |
synonymous SNV |   | 1 |   |   |   |   | 1 |   | 1 |   |   | 1 | 1 | 1 |   |   | 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 |
chr17:37826360 | p.P189P | 2 |
chr17:37826401 | p.T203M | 2 |
chr17:37826511 | p.A149V | 1 |
chr17:37826226 | p.P164H | 1 |
chr17:37826527 | p.A181V | 1 |
chr17:37826227 | p.D199H | 1 |
chr17:37826571 | p.R33H | 1 |
chr17:37826239 | p.S220L | 1 |
chr17:37826577 | p.R37R | 1 |
chr17:37824826 | p.V232V | 1 |
Other DBs for Point Mutations |
Copy Number for PNMT 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 PNMT |
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 |
ARHGAP8,BMS1,DDIT4,DHRS2,HIST1H1D,HIST1H2BM,IFT20, KRT26,KRTAP4-1,LAS1L,LOC146481,NME1,PNMT,POLDIP2, SEC14L2,TCAP,TLCD1,TMEM199,TNFAIP1,TYSND1,ZNF689 | AMPH,CALML3,CDSN,CWH43,CYP4F22,DIO2,DLX1, DNAJB3,FOXL2,HMGB4,KRTAP15-1,KRTAP5-5,LOC286359,MEPE, OR10G8,OR4P4,PNMT,SLC18A3,TNFSF11,WNT4,ZNF689 | ||||
ADAMTSL2,AMBN,CACNA1S,CST5,DBH,DLX3,FGF8, KLK14,KRT31,LIPM,MYH7B,NELL2,PNMT,RASL11B, RPTN,S100A3,SERPINI1,SEZ6L,TCHHL1,TSG1,TULP2 | ADRA2B,APOD,CA5B,CACNG4,CELF3,CPLX2,CPNE4, CYP4B1,FAM107A,FKBP5,GAL,KLF15,MCHR2,PDK4, PNMT,SCG2,SCGN,SCNN1G,SELV,SLC7A2,ZBTB16 |
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 PNMT |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
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 |
DB01752 | phenylethanolamine N-methyltransferase | experimental | S-Adenosyl-L-Homocysteine | ||
DB03468 | phenylethanolamine N-methyltransferase | experimental | 1,2,3,4-Tetrahydro-Isoquinoline-7-Sulfonic Acid Amide | ||
DB03824 | phenylethanolamine N-methyltransferase | experimental | 7-Iodo-1,2,3,4-Tetrahydro-Isoquinoline | ||
DB04273 | phenylethanolamine N-methyltransferase | experimental | 8,9-Dichloro-2,3,4,5-Tetrahydro-1h-Benzo[C]Azepine | ||
DB07597 | phenylethanolamine N-methyltransferase | experimental | CIS-(1R,2S)-2-AMINO-1,2,3,4-TETRAHYDRONAPHTHALEN-1-OL | ||
DB07739 | phenylethanolamine N-methyltransferase | experimental | (3R)-3-(FLUOROMETHYL)-7-(THIOMORPHOLIN-4-YLSULFONYL)-1,2,3,4-TETRAHYDROISOQUINOLINE | ||
DB07747 | phenylethanolamine N-methyltransferase | experimental | (3R)-N-(4-CHLOROPHENYL)-3-(HYDROXYMETHYL)-1,2,3,4-TETRAHYDROISOQUINOLINE-7-SULFONAMIDE | ||
DB07798 | phenylethanolamine N-methyltransferase | experimental | (3R)-3-(FLUOROMETHYL)-N-(3,3,3-TRIFLUOROPROPYL)-1,2,3,4-TETRAHYDROISOQUINOLINE-7-SULFONAMIDE | ||
DB07906 | phenylethanolamine N-methyltransferase | experimental | [(3R)-7-NITRO-1,2,3,4-TETRAHYDROISOQUINOLIN-3-YL]METHANOL | ||
DB08128 | phenylethanolamine N-methyltransferase | experimental | (1S,4R,9S)-5-(trifluoromethyl)-1,2,3,4-tetrahydro-1,4-methanonaphthalen-9-amine | ||
DB08129 | phenylethanolamine N-methyltransferase | experimental | (1R)-2-amino-1-[3-(trifluoromethyl)phenyl]ethanol | ||
DB08550 | phenylethanolamine N-methyltransferase | experimental | 7,8-DICHLORO-1,2,3,4-TETRAHYDROISOQUINOLINE | ||
DB08631 | phenylethanolamine N-methyltransferase | experimental | N-(4-CHLOROPHENYL)-1,2,3,4-TETRAHYDROISOQUINOLINE-7-SULFONAMIDE | ||
DB08654 | phenylethanolamine N-methyltransferase | experimental | TRANS-(1S,2S)-2-AMINO-1,2,3,4-TETRAHYDRONAPHTHALEN-1-OL | ||
DB00988 | phenylethanolamine N-methyltransferase | approved | Dopamine | ||
DB00135 | phenylethanolamine N-methyltransferase | approved; nutraceutical | L-Tyrosine | ||
DB00360 | phenylethanolamine N-methyltransferase | approved; investigational | Tetrahydrobiopterin | ||
DB00126 | phenylethanolamine N-methyltransferase | approved; nutraceutical | Vitamin C | ||
DB01105 | phenylethanolamine N-methyltransferase | illicit; approved; withdrawn; investigational | Sibutramine | ||
DB00668 | phenylethanolamine N-methyltransferase | approved | Epinephrine | ||
DB00368 | phenylethanolamine N-methyltransferase | approved | Norepinephrine | ||
DB01454 | phenylethanolamine N-methyltransferase | illicit; experimental | 3,4-Methylenedioxymethamphetamine | ||
DB01033 | phenylethanolamine N-methyltransferase | approved | Mercaptopurine |
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Cross referenced IDs for PNMT |
* 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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