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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ENPP6 |
Basic gene info. | Gene symbol | ENPP6 |
Gene name | ectonucleotide pyrophosphatase/phosphodiesterase 6 | |
Synonyms | NPP6 | |
Cytomap | UCSC genome browser: 4q35.1 | |
Genomic location | chr4 :185009858-185139114 | |
Type of gene | protein-coding | |
RefGenes | NM_153343.3, | |
Ensembl id | ENSG00000164303 | |
Description | B830047L21RikE-NPP 6GPC-CpdeNPP-6choline-specific glycerophosphodiester phosphodiesteraseectonucleotide pyrophosphatase/phosphodiesterase family member 6glycerophosphocholine cholinephosphodiesterase | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000164303 | ||
HPRD : 16863 | ||
Vega : OTTHUMG00000160617 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ENPP6 | |
BioGPS: 133121 | ||
Gene Expression Atlas: ENSG00000164303 | ||
The Human Protein Atlas: ENSG00000164303 | ||
Pathway | NCI Pathway Interaction Database: ENPP6 | |
KEGG: ENPP6 | ||
REACTOME: ENPP6 | ||
ConsensusPathDB | ||
Pathway Commons: ENPP6 | ||
Metabolism | MetaCyc: ENPP6 | |
HUMANCyc: ENPP6 | ||
Regulation | Ensembl's Regulation: ENSG00000164303 | |
miRBase: chr4 :185,009,858-185,139,114 | ||
TargetScan: NM_153343 | ||
cisRED: ENSG00000164303 | ||
Context | iHOP: ENPP6 | |
cancer metabolism search in PubMed: ENPP6 | ||
UCL Cancer Institute: ENPP6 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ENPP6(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: ENPP6 |
Familial Cancer Database: ENPP6 |
* 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 | |
Nat Rev Drug Discovery, 2013, 12: 829, doi: 10.1038/nrd4145 |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: ENPP6 |
MedGen: ENPP6 (Human Medical Genetics with Condition) | |
ClinVar: ENPP6 | |
Phenotype | MGI: ENPP6 (International Mouse Phenotyping Consortium) |
PhenomicDB: ENPP6 |
Mutations for ENPP6 |
* 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 |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | ENPP6 | chr4 | 185082443 | 185082463 | ENPP6 | chr4 | 185082916 | 185082936 |
ovary | ENPP6 | chr4 | 185082446 | 185082466 | ENPP6 | chr4 | 185082916 | 185082936 |
pancreas | ENPP6 | chr4 | 185078919 | 185078939 | chr4 | 152917743 | 152917763 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ENPP6 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 |   |   |   |   |   |   |   | 1 |   | 2 |   |   |   |   |   |   | |||
GAIN (# sample) | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   | 1 |   | 2 |   |   |   |   |   |   |
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=51) | (# total SNVs=10) |
(# total SNVs=2) | (# 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 |
chr4:185038131-185038131 | p.D245N | 5 |
chr4:185074883-185074883 | p.R82H | 3 |
chr4:185074732-185074732 | p.R132R | 3 |
chr4:185138817-185138817 | p.E52D | 3 |
chr4:185038147-185038147 | p.S239S | 2 |
chr4:185012504-185012504 | p.I383M | 2 |
chr4:185038182-185038182 | p.G228R | 2 |
chr4:185045347-185045347 | p.A167V | 2 |
chr4:185038965-185038965 | p.D208Y | 2 |
chr4:185038969-185038969 | p.R206R | 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 |   | 2 |   | 9 | 2 |   | 3 |   | 1 |   |   | 10 | 3 |   |   |   | 14 | 5 | 1 | 7 |
# mutation |   | 2 |   | 9 | 2 |   | 3 |   | 1 |   |   | 10 | 3 |   |   |   | 14 | 5 | 1 | 12 |
nonsynonymous SNV |   | 1 |   | 7 | 1 |   | 3 |   |   |   |   | 8 | 3 |   |   |   | 9 | 3 | 1 | 12 |
synonymous SNV |   | 1 |   | 2 | 1 |   |   |   | 1 |   |   | 2 |   |   |   |   | 5 | 2 |   |   |
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 |
chr4:185038131 | p.D245N | 4 |
chr4:185038147 | p.S239S | 2 |
chr4:185138817 | p.R132R | 2 |
chr4:185038965 | p.D208Y | 2 |
chr4:185038969 | p.R206R | 2 |
chr4:185074732 | p.E52D | 2 |
chr4:185018489 | p.S176F | 1 |
chr4:185074884 | p.K51K | 1 |
chr4:185045347 | p.V410G | 1 |
chr4:185012430 | p.G271W | 1 |
Other DBs for Point Mutations |
Copy Number for ENPP6 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 ENPP6 |
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 |
FOXL2NB,MGARP,CYP11A1,CYP17A1,CYP19A1,ENPP6,FOXL2, GRAMD1B,HPCAL4,HSD11B1,INSL3,KLHL4,LHCGR,MBOAT4, MRO,SCARB1,STAR,TCF21,TREML5P,VCAM1,WIPF3 | ASIC1,B3GALT5,CFL1P1,COBL,EGF,ENPP6,ETV3L, ETV5,GLP1R,HPSE2,KCNMB2,LAMA1,LAMC3,LHFPL1, LOC646851,OR6C70,PRSS3,SLC26A5,SNHG4,TMEM178A,ZNF774 |
ADHFE1,AMPD1,ANGPTL1,BMP3,CASR,ENPP6,FAM135B, FGL2,FOXF2,LOC572558,MS4A12,NEGR1,NKX2-3,OTOP2, P2RY14,PDK4,SCARA5,SCNN1B,SDPR,SLC25A34,TMIGD1 | ADAM28,AMPD1,BMP5,LACC1,PRR35,CD163L1,CNTN4, CYP26A1,EFHB,EMID1,EMR4P,ENPP6,FAM135B,GLIS1, GUCY2D,KREMEN1,PDGFD,SALL1,SCUBE1,SMOC1,VSTM2A |
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 ENPP6 |
There's no related Drug. |
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Cross referenced IDs for ENPP6 |
* 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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