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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CES1 |
Basic gene info. | Gene symbol | CES1 |
Gene name | carboxylesterase 1 | |
Synonyms | ACAT|CE-1|CEH|CES2|HMSE|HMSE1|PCE-1|REH|SES1|TGH|hCE-1 | |
Cytomap | UCSC genome browser: 16q22.2 | |
Genomic location | chr16 :55836763-55867075 | |
Type of gene | protein-coding | |
RefGenes | NM_001025194.1, NM_001025195.1,NM_001266.4, | |
Ensembl id | ENSG00000262243 | |
Description | acyl coenzyme A:cholesterol acyltransferaseacyl-coenzyme A:cholesterol acyltransferasebrain carboxylesterase hBr1carboxylesterase 1 (monocyte/macrophage serine esterase 1)carboxylesterase 2 (liver)cholesteryl ester hydrolasecocaine carboxylesterase | |
Modification date | 20141222 | |
dbXrefs | MIM : 114835 | |
HGNC : HGNC | ||
Ensembl : ENSG00000198848 | ||
HPRD : 00268 | ||
Vega : OTTHUMG00000176718 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CES1 | |
BioGPS: 1066 | ||
Gene Expression Atlas: ENSG00000262243 | ||
The Human Protein Atlas: ENSG00000262243 | ||
Pathway | NCI Pathway Interaction Database: CES1 | |
KEGG: CES1 | ||
REACTOME: CES1 | ||
ConsensusPathDB | ||
Pathway Commons: CES1 | ||
Metabolism | MetaCyc: CES1 | |
HUMANCyc: CES1 | ||
Regulation | Ensembl's Regulation: ENSG00000262243 | |
miRBase: chr16 :55,836,763-55,867,075 | ||
TargetScan: NM_001025194 | ||
cisRED: ENSG00000262243 | ||
Context | iHOP: CES1 | |
cancer metabolism search in PubMed: CES1 | ||
UCL Cancer Institute: CES1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for CES1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: CES1 |
Familial Cancer Database: CES1 |
* This gene is included in those cancer gene databases. |
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_DRUG_METABOLISM_OTHER_ENZYMES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: CES1 |
MedGen: CES1 (Human Medical Genetics with Condition) | |
ClinVar: CES1 | |
Phenotype | MGI: CES1 (International Mouse Phenotyping Consortium) |
PhenomicDB: CES1 |
Mutations for CES1 |
* 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 CES1 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 |
BP241894 | CES1 | 1 | 504 | 16 | 55837485 | 55846928 | H2AFY2 | 504 | 579 | 10 | 71851077 | 71851152 |
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 |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) | 1 |   |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   |
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=0) | (# total SNVs=0) |
(# total SNVs=0) | (# 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 |
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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 | 1 | 13 | 2 |   | 4 |   | 6 |   |   | 9 | 3 | 2 |   | 1 | 20 | 8 |   | 12 |
# mutation |   | 2 | 2 | 13 | 2 |   | 4 |   | 6 |   |   | 9 | 3 | 2 |   | 1 | 19 | 10 |   | 15 |
nonsynonymous SNV |   | 2 | 2 | 12 | 2 |   | 3 |   | 5 |   |   | 6 | 2 | 1 |   | 1 | 15 | 7 |   | 12 |
synonymous SNV |   |   |   | 1 |   |   | 1 |   | 1 |   |   | 3 | 1 | 1 |   |   | 4 | 3 |   | 3 |
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 |
chr16:55855282 | p.L230I,CES1 | 3 |
chr16:55857517 | p.E161K,CES1 | 3 |
chr16:55860205 | p.C87Y,CES1 | 2 |
chr16:55855305 | p.A222V,CES1 | 2 |
chr16:55853460 | p.S214F,CES1 | 2 |
chr16:55855329 | p.A148V,CES1 | 2 |
chr16:55855375 | p.R199C,CES1 | 2 |
chr16:55844493 | p.F417L,CES1 | 2 |
chr16:55857555 | p.T297M,CES1 | 2 |
chr16:55844438 | p.G18V,CES1 | 1 |
Other DBs for Point Mutations |
Copy Number for CES1 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 CES1 |
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 |
AKR1B10,AKR1C1,ALDH3A1,CES1,CES1P1,CSH1,CSHL1, DDX52,DUSP14,GPX2,HIST2H3C,HIST2H3D,LYZL4,PPP1R9B, PSMD11,RBMXL2,SP2,SYNRG,UTP6,VCX,ZP1 | AKR1C2,AKR1C3,BHMT2,CES1,DHDDS,EPB42,EPHX1, FADS3,GCOM1,GLYAT,HSPA12A,ITIH5,ITPK1,LEP, PMEPA1,PYGL,TK2,TNS3,TPST2,UCHL1,VLDLR | ||||
ABCC2,ATP4A,BCAM,C1orf64,CES1,CES1P1,CHRND, EMID1,F2,GYPB,HHATL,HIST1H4G,IGDCC3,LCN12, NAALADL1,NKD1,NOD2,OC90,OR6C68,PMFBP1,SNAR-F | ACTA2,BVES,CES1,CORO6,CTXN1,DACT3,FAM46B, HRASLS5,ILDR2,KCNK3,KCNMB1,KCTD8,MPP2,NPTXR, PDLIM7,PNCK,REEP2,TAGLN,TGFB1I1,TMEM35,TUBA1A |
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 CES1 |
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 |
DB00198 | carboxylesterase 1 | approved | Oseltamivir | ||
DB00583 | carboxylesterase 1 | approved | L-Carnitine | ||
DB01599 | carboxylesterase 1 | approved | Probucol | ||
DB02161 | carboxylesterase 1 | experimental | Hydroxy-Phenyl-Acetic Acid 8-Methyl-8-Aza-Bicyclo[3.2.1]Oct-3-Yl Ester | ||
DB02659 | carboxylesterase 1 | experimental | Cholic Acid | ||
DB02944 | carboxylesterase 1 | experimental | Alpha-D-Mannose | ||
DB03056 | carboxylesterase 1 | experimental | 4-Piperidino-Piperidine | ||
DB03721 | carboxylesterase 1 | experimental | O-Sialic Acid | ||
DB04509 | carboxylesterase 1 | experimental | N-Methylnaloxonium | ||
DB04795 | carboxylesterase 1 | experimental | Thenoyltrifluoroacetone | ||
DB04838 | carboxylesterase 1 | approved | Cyclandelate | ||
DB07821 | carboxylesterase 1 | experimental | (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE | ||
DB08224 | carboxylesterase 1 | experimental | (1S,7S,8S,8AR)-1,2,3,7,8,8A-HEXAHYDRO-7-METHYL-8-[2-[(2R,4R)-TETRAHYDRO-4-HY DROXY-6-OXO-2H-PYRAN-2-YL]ETHYL]-1-NAPHTHALENOL | ||
DB00951 | carboxylesterase 1 | approved | Isoniazid | ||
DB00422 | carboxylesterase 1 | approved; investigational | Methylphenidate | ||
DB06209 | carboxylesterase 1 | approved; investigational | Prasugrel | ||
DB01101 | carboxylesterase 1 | approved; investigational | Capecitabine | ||
DB00544 | carboxylesterase 1 | approved | Fluorouracil | ||
DB00762 | carboxylesterase 1 | approved; investigational | Irinotecan | ||
DB00519 | carboxylesterase 1 | approved | Trandolapril |
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Cross referenced IDs for CES1 |
* 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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