Cancer Cell Metabolism Gene Database

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Gene Summary

Phenotypic Information (metabolism pathway, cancer, disease, phenome)

Mutations: SVs, CNVs, SNVs

Gene expression: GE, Protein, DEGE, CNV vs GE

Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG

Pharmacological Information: Drug-Gene Network

Cross referenced IDs

Gene Summary for UGT1A1
Basic gene info.Gene symbolUGT1A1
Gene nameUDP glucuronosyltransferase 1 family, polypeptide A1
SynonymsBILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A
CytomapUCSC genome browser: 2q37
Genomic locationchr2 :234668918-234681945
Type of geneprotein-coding
RefGenesNM_000463.2,
Ensembl idENSG00000241635
DescriptionUDP glycosyltransferase 1 family, polypeptide A1UDP-glucuronosyltransferase 1-1UDP-glucuronosyltransferase 1-AUDP-glucuronosyltransferase 1A1UGT-1AUGT1*1UGT1-01UGT1.1bilirubin UDP-glucuronosyltransferase 1-1bilirubin UDP-glucuronosyltransferase i
Modification date20141222
dbXrefs MIM : 191740
HGNC : HGNC
Ensembl : ENSG00000241635
HPRD : 08933
Vega : OTTHUMG00000059117
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_UGT1A1
BioGPS: 54658
Gene Expression Atlas: ENSG00000241635
The Human Protein Atlas: ENSG00000241635
PathwayNCI Pathway Interaction Database: UGT1A1
KEGG: UGT1A1
REACTOME: UGT1A1
ConsensusPathDB
Pathway Commons: UGT1A1
MetabolismMetaCyc: UGT1A1
HUMANCyc: UGT1A1
RegulationEnsembl's Regulation: ENSG00000241635
miRBase: chr2 :234,668,918-234,681,945
TargetScan: NM_000463
cisRED: ENSG00000241635
ContextiHOP: UGT1A1
cancer metabolism search in PubMed: UGT1A1
UCL Cancer Institute: UGT1A1
Assigned class in ccmGDBC

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Phenotypic Information for UGT1A1(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: UGT1A1
Familial Cancer Database: UGT1A1
* This gene is included in those cancer gene databases.

.

Oncogene 1

Tumor Suppressor gene 2

Cancer Gene Census 3

CancerGenes 4

Network of Cancer Gene 5

Significant driver gene in

Therapeutic Vulnerabilities in Cancer1

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/

check002.gifMetabolic Pathway Description
KEGG_ASCORBATE_AND_ALDARATE_METABOLISM
KEGG_STARCH_AND_SUCROSE_METABOLISM
KEGG_RETINOL_METABOLISM
KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM
KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450
KEGG_DRUG_METABOLISM_CYTOCHROME_P450
KEGG_DRUG_METABOLISM_OTHER_ENZYMES
REACTOME_METABOLISM_OF_PORPHYRINS

check002.gifOthers
OMIM
Orphanet
DiseaseKEGG Disease: UGT1A1
MedGen: UGT1A1 (Human Medical Genetics with Condition)
ClinVar: UGT1A1
PhenotypeMGI: UGT1A1 (International Mouse Phenotyping Consortium)
PhenomicDB: UGT1A1

Mutations for UGT1A1
* 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.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram
There's no structural variation information in COSMIC data for this gene.

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows UGT1A1 related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy 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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check002.gifSNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation

 : Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=4

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=61)
Stat. for Synonymous SNVs
(# total SNVs=23)
Stat. for Deletions
(# total SNVs=2)
Stat. for Insertions
(# total SNVs=0)
There's no inserted snv.

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check002.gifTop 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 positionMutation(aa)Unique sampleID count
chr2:234676526-234676526p.S343L3
chr2:234681161-234681161p.K520E3
chr2:234669794-234669794p.S287S2
chr2:234680936-234680936p.S445G2
chr2:234668958-234668958p.R9C2
chr2:234669581-234669581p.A216A2
chr2:234669127-234669127p.S65*2
chr2:234675694-234675694p.Y293Y2
chr2:234676536-234676536p.A346A2
chr2:234669619-234669619p.P229Q2

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check002.gifSNV Counts per Each Loci in TCGA data

 : non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=2

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample21 33 2 11 612  94111
# mutation31 34 2 11 712  104111
nonsynonymous SNV3  11   11 711  4219
synonymous SNV 1 23 2      1  62 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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check002.gifTop 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 PositionMutation(aa)Unique sampleID count
chr2:234669559p.E101D2
chr2:234669236p.R209L2
chr2:234669410p.I47I2
chr2:234669074p.I159I2
chr2:234669110p.R9C1
chr2:234669619p.G96R1
chr2:234669287p.F190L1
chr2:234668958p.R9H1
chr2:234669503p.S191S1
chr2:234669123p.L17L1

check002.gifOther DBs for Point Mutations
Point Mutation Table of Ensembl: go to Ensembl variation table
Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

check002.gifCopy Number for UGT1A1 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 UGT1A1

check002.gifGene 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.

check002.gifDifferential 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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check002.gifCNV vs Gene Expression Plot
* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types


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Gene-Gene Network Information
check002.gifCo-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

: Open all plots for all cancer types

AKR1C3,ALDH3A1,BCL2L10,CCL11,DSCR4,GAGE12J,GAGE2B,
GAGE8,GPR50,GPX2,IQCF2,KRTAP5-4,LOC285629,PRAMEF12,
RBMXL2,UGT1A10,UGT1A5,VCX,VCX3A,VCX3B,VCY
ANXA10,BAAT,GKN2,KRTAP13-1,LGSN,MAGEA4,NAPSA,
NKX2-1,PAEP,BPIFA1,PSAPL1,SCGB3A2,SFTA2,SFTA3,
SFTPB,SFTPC,SLC26A9,SPINK1,TM4SF20,TM4SF5,UGT1A10

ABCC3,AKR1B10,AXDND1,EHHADH,ENTPD5,KRAS,LYRM5,
MOGAT2,PLCE1,PROL1,SGK2,SLC17A8,SLC23A3,SLC25A34,
SULT1B1,TMEM131,UGP2,UGT1A10,UGT1A6,UGT1A8,UGT1A9
ABCD3,ABHD5,ACOX1,AGFG2,ALAS1,CDH17,RHOV___CHP1,
CUL3,EHHADH,HSD17B2,IQGAP2,OPN3,PAPSS2,SFXN1,
SLC22A5,SLC41A2,STK38,TGFA,UGT1A10,UGT1A8,VDAC1
check002.gifCo-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

: Open all plots for all cancer types

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check002.gifInteracting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for UGT1A1
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB01234UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalDexamethasone
DB01544UDP glucuronosyltransferase 1 family, polypeptide A1illicit; approvedFlunitrazepam
DB00973UDP glucuronosyltransferase 1 family, polypeptide A1approvedEzetimibe
DB00317UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalGefitinib
DB00683UDP glucuronosyltransferase 1 family, polypeptide A1illicit; approvedMidazolam
DB00184UDP glucuronosyltransferase 1 family, polypeptide A1approvedNicotine
DB00196UDP glucuronosyltransferase 1 family, polypeptide A1approvedFluconazole
DB01026UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalKetoconazole
DB00318UDP glucuronosyltransferase 1 family, polypeptide A1illicit; approvedCodeine
DB00678UDP glucuronosyltransferase 1 family, polypeptide A1approvedLosartan
DB00530UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalErlotinib
DB01156UDP glucuronosyltransferase 1 family, polypeptide A1approvedBupropion
DB00564UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalCarbamazepine
DB00531UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalCyclophosphamide
DB00625UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalEfavirenz
DB00532UDP glucuronosyltransferase 1 family, polypeptide A1approvedMephenytoin
DB00238UDP glucuronosyltransferase 1 family, polypeptide A1approvedNevirapine
DB01045UDP glucuronosyltransferase 1 family, polypeptide A1approvedRifampin
DB01076UDP glucuronosyltransferase 1 family, polypeptide A1approvedAtorvastatin
DB00252UDP glucuronosyltransferase 1 family, polypeptide A1approvedPhenytoin
DB00286UDP glucuronosyltransferase 1 family, polypeptide A1approvedConjugated Estrogens
DB01601UDP glucuronosyltransferase 1 family, polypeptide A1approvedLopinavir
DB00503UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalRitonavir
DB00322UDP glucuronosyltransferase 1 family, polypeptide A1approvedFloxuridine
DB00526UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalOxaliplatin
DB00295UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalMorphine
DB00958UDP glucuronosyltransferase 1 family, polypeptide A1approvedCarboplatin
DB01174UDP glucuronosyltransferase 1 family, polypeptide A1approvedPhenobarbital
DB00987UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalCytarabine
DB00694UDP glucuronosyltransferase 1 family, polypeptide A1approvedDaunorubicin
DB00773UDP glucuronosyltransferase 1 family, polypeptide A1approvedEtoposide
DB00650UDP glucuronosyltransferase 1 family, polypeptide A1approvedLeucovorin
DB01033UDP glucuronosyltransferase 1 family, polypeptide A1approvedMercaptopurine
DB00563UDP glucuronosyltransferase 1 family, polypeptide A1approvedMethotrexate
DB00635UDP glucuronosyltransferase 1 family, polypeptide A1approvedPrednisone
DB00541UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalVincristine
DB00762UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalIrinotecan
DB00224UDP glucuronosyltransferase 1 family, polypeptide A1approvedIndinavir
DB01072UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalAtazanavir
DB00624UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalTestosterone
DB00783UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalEstradiol
DB00544UDP glucuronosyltransferase 1 family, polypeptide A1approvedFluorouracil
DB01101UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalCapecitabine
DB01110UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalMiconazole
DB00338UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalOmeprazole
DB00515UDP glucuronosyltransferase 1 family, polypeptide A1approvedCisplatin
DB00316UDP glucuronosyltransferase 1 family, polypeptide A1approvedAcetaminophen
DB00921UDP glucuronosyltransferase 1 family, polypeptide A1illicit; approved; investigationalBuprenorphine
DB00977UDP glucuronosyltransferase 1 family, polypeptide A1approvedEthinyl Estradiol
DB00966UDP glucuronosyltransferase 1 family, polypeptide A1approved; investigationalTelmisartan
DB00695UDP glucuronosyltransferase 1 family, polypeptide A1approvedFurosemide
DB00712UDP glucuronosyltransferase 1 family, polypeptide A1approvedFlurbiprofen
DB01050UDP glucuronosyltransferase 1 family, polypeptide A1approvedIbuprofen
DB01009UDP glucuronosyltransferase 1 family, polypeptide A1approvedKetoprofen
DB00451UDP glucuronosyltransferase 1 family, polypeptide A1approvedLevothyroxine


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Cross referenced IDs for UGT1A1
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information



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