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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CEL |
Basic gene info. | Gene symbol | CEL |
Gene name | carboxyl ester lipase | |
Synonyms | BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8 | |
Cytomap | UCSC genome browser: 9q34.3 | |
Genomic location | chr9 :135937364-135947248 | |
Type of gene | protein-coding | |
RefGenes | NM_001807.4, | |
Ensembl id | ENSG00000170835 | |
Description | bile salt-activated lipasebile salt-dependent lipase, oncofetal isoformbucelipasecarboxyl ester hydrolasecarboxyl ester lipase (bile salt-stimulated lipase)cholesterol esterasefetoacinar pancreatic proteinlysophospholipase, pancreaticsterol estera | |
Modification date | 20141207 | |
dbXrefs | MIM : 114840 | |
HGNC : HGNC | ||
Ensembl : ENSG00000170835 | ||
HPRD : 07509 | ||
Vega : OTTHUMG00000020855 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CEL | |
BioGPS: 1056 | ||
Gene Expression Atlas: ENSG00000170835 | ||
The Human Protein Atlas: ENSG00000170835 | ||
Pathway | NCI Pathway Interaction Database: CEL | |
KEGG: CEL | ||
REACTOME: CEL | ||
ConsensusPathDB | ||
Pathway Commons: CEL | ||
Metabolism | MetaCyc: CEL | |
HUMANCyc: CEL | ||
Regulation | Ensembl's Regulation: ENSG00000170835 | |
miRBase: chr9 :135,937,364-135,947,248 | ||
TargetScan: NM_001807 | ||
cisRED: ENSG00000170835 | ||
Context | iHOP: CEL | |
cancer metabolism search in PubMed: CEL | ||
UCL Cancer Institute: CEL | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for CEL(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: CEL |
Familial Cancer Database: CEL |
* 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_GLYCEROLIPID_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: CEL |
MedGen: CEL (Human Medical Genetics with Condition) | |
ClinVar: CEL | |
Phenotype | MGI: CEL (International Mouse Phenotyping Consortium) |
PhenomicDB: CEL |
Mutations for CEL |
* 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 CEL 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 |
M54994 | PCYOX1 | 1 | 667 | 2 | 70488361 | 70504008 | CEL | 654 | 3004 | 9 | 135937365 | 135947248 |
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=46) | (# total SNVs=34) |
(# total SNVs=8) | (# 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 |
chr9:135947054-135947054 | p.P727fs*>30 | 3 |
chr9:135940544-135940544 | p.R156H | 3 |
chr9:135939897-135939897 | p.P61L | 3 |
chr9:135947032-135947032 | p.P718T | 3 |
chr9:135944195-135944195 | p.F347F | 3 |
chr9:135947053-135947053 | p.A725P | 3 |
chr9:135946986-135946986 | p.G702G | 2 |
chr9:135942255-135942255 | p.R237W | 2 |
chr9:135947065-135947065 | p.T731fs*>26 | 2 |
chr9:135942011-135942011 | p.F214F | 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 | 2 |   | 9 | 3 |   | 1 |   |   | 1 |   | 6 | 3 | 2 | 1 |   | 14 | 7 | 1 | 9 |
# mutation | 2 | 2 |   | 9 | 3 |   | 1 |   |   | 1 |   | 6 | 3 | 2 | 1 |   | 14 | 8 | 1 | 11 |
nonsynonymous SNV | 1 | 2 |   | 5 | 2 |   | 1 |   |   | 1 |   | 4 | 1 | 1 |   |   | 11 | 7 | 1 | 6 |
synonymous SNV | 1 |   |   | 4 | 1 |   |   |   |   |   |   | 2 | 2 | 1 | 1 |   | 3 | 1 |   | 5 |
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 |
chr9:135947053 | p.A725P | 3 |
chr9:135946427 | p.F214F | 2 |
chr9:135942011 | p.P718T | 2 |
chr9:135947032 | p.T516M | 2 |
chr9:135942234 | p.W196L | 1 |
chr9:135947049 | p.I350I | 1 |
chr9:135944204 | p.G592G | 1 |
chr9:135939856 | p.G47G | 1 |
chr9:135940563 | p.P208P | 1 |
chr9:135942235 | p.V414I | 1 |
Other DBs for Point Mutations |
Copy Number for CEL 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 CEL |
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 |
ALDH1L1,BTN1A1,C17orf77,CEL,CELP,CSN1S1,CSN1S2AP, CSN2,CSRNP3,CXCL2,FAM196B,TMEM236,GREM2,KCTD16, LALBA,MRC1,NPFFR2,OLAH,OR5E1P,SGCZ,SLC9A4 | ASIC5,BTN1A1,CEL,CELP,CHRDL2,CSN1S1,CSN1S2AP, CSN2,CSN3,GC,GPRC6A,KRTAP5-10,LALBA,OLAH, OR52A5,SLC17A2,SLC9A4,SLCO4C1,STATH,TMEM171,XDH |
ANKK1,APCDD1,BBS5,MCMDC2,CAB39L,CEL,CELP, GGT7,GPR143,GTF2IRD1,IMMP2L,LINC01512,LOC100190940,LOC728743, MYH7B,NXPH3,PALM3,RNF43,SLC5A6,TOP1MT,WNT6 | ALB,AMBP,APOA2,C3P1,C8B,CEL,CELP, CFHR2,DNAJB8,F9,FGG,HAO1,HRG,KIR3DP1, KRTAP4-11,KRTAP5-3,LECT2,LOC100129935,LINC00160,OR1N1,PLG |
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 CEL |
There's no related Drug. |
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Cross referenced IDs for CEL |
* 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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