Cancer Cell Metabolism Database ~~ Bioinformatics and Systems Medicine Laboratory ~~

Cancer Cell Metabolism Gene Database

Cancer Cell Metabolism Gene DB

Home

	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 symbol	UGT1A1
	Gene name	UDP glucuronosyltransferase 1 family, polypeptide A1
	Synonyms	BILIQTL1\|GNT1\|HUG-BR1\|UDPGT\|UDPGT 1-1\|UGT1\|UGT1A
	Cytomap	UCSC genome browser: 2q37
	Genomic location	chr2 :234668918-234681945
	Type of gene	protein-coding
	RefGenes	NM_000463.2,
	Ensembl id	ENSG00000241635
	Description	UDP 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 date	20141222
dbXrefs	MIM : 191740
	HGNC : HGNC
	Ensembl : ENSG00000241635
	HPRD : 08933
	Vega : OTTHUMG00000059117
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_UGT1A1
	BioGPS: 54658
	Gene Expression Atlas: ENSG00000241635
	The Human Protein Atlas: ENSG00000241635
Pathway	NCI Pathway Interaction Database: UGT1A1
	KEGG: UGT1A1
	REACTOME: UGT1A1
	ConsensusPathDB
	Pathway Commons: UGT1A1
Metabolism	MetaCyc: UGT1A1
	HUMANCyc: UGT1A1
Regulation	Ensembl's Regulation: ENSG00000241635
	miRBase: chr2 :234,668,918-234,681,945
	TargetScan: NM_000463
	cisRED: ENSG00000241635
Context	iHOP: UGT1A1
	cancer metabolism search in PubMed: UGT1A1
	UCL Cancer Institute: UGT1A1
Assigned class in ccmGDB	C

Top

Phenotypic Information for UGT1A1(metabolism pathway, cancer, disease, phenome)

Cancer 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/

Metabolic 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

Others
OMIM
Orphanet
Disease	KEGG Disease: UGT1A1
	MedGen: UGT1A1 (Human Medical Genetics with Condition)
	ClinVar: UGT1A1
Phenotype	MGI: UGT1A1 (International Mouse Phenotyping Consortium)
Phenotype	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.

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 UGT1A1 related fusion information.

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

Structural Variants in Ensembl: go to Ensembl Structural variation

Structural Variants in dbVar: go to dbVar

Top

Copy Number Variations in COSMIC : go to COSMIC mutation CNV/Expr

There's no copy number variation information in COSMIC data for this gene.

Top

SNV 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

Top

Somatic 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.

Top

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
chr2:234681161-234681161	p.K520E	3
chr2:234676526-234676526	p.S343L	3
chr2:234681041-234681041	p.D480N	2
chr2:234676494-234676494	p.?	2
chr2:234669723-234669723	p.Y264H	2
chr2:234669074-234669074	p.I47I	2
chr2:234680936-234680936	p.S445G	2
chr2:234669794-234669794	p.S287S	2
chr2:234668958-234668958	p.R9C	2
chr2:234669581-234669581	p.A216A	2

Top

SNV 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 ID	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17	18	19	20
# sample	2	1		3	3		2		1	1		6	1	2			9	4	1	11
# mutation	3	1		3	4		2		1	1		7	1	2			10	4	1	11
nonsynonymous SNV	3			1	1				1	1		7	1	1			4	2	1	9
synonymous SNV		1		2	3		2							1			6	2		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])

Top

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
chr2:234669074	p.I159I	2
chr2:234669559	p.E101D	2
chr2:234669236	p.R209L	2
chr2:234669410	p.I47I	2
chr2:234669244	p.A64A	1
chr2:234669446	p.S250C	1
chr2:234669609	p.S65L	1
chr2:234669256	p.F171F	1
chr2:234669456	p.F256L	1
chr2:234669099	p.S258T	1

Other 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

Copy 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]

Top

Gene Expression for UGT1A1

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))

Top

CNV vs Gene Expression Plot

* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types

Top

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

: 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

Co-Expressed gene's Protein-protein interaction Network Plot

: Open all plots for all cancer types

Top

Interacting Genes (from Pathway Commons)

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

Top

Pharmacological Information for UGT1A1

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
DB01234	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Dexamethasone
DB01544	UDP glucuronosyltransferase 1 family, polypeptide A1	illicit; approved	Flunitrazepam
DB00973	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Ezetimibe
DB00317	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Gefitinib
DB00683	UDP glucuronosyltransferase 1 family, polypeptide A1	illicit; approved	Midazolam
DB00184	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Nicotine
DB00196	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Fluconazole
DB01026	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Ketoconazole
DB00318	UDP glucuronosyltransferase 1 family, polypeptide A1	illicit; approved	Codeine
DB00678	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Losartan
DB00530	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Erlotinib
DB01156	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Bupropion
DB00564	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Carbamazepine
DB00531	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Cyclophosphamide
DB00625	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Efavirenz
DB00532	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Mephenytoin
DB00238	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Nevirapine
DB01045	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Rifampin
DB01076	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Atorvastatin
DB00252	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Phenytoin
DB00286	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Conjugated Estrogens
DB01601	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Lopinavir
DB00503	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Ritonavir
DB00322	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Floxuridine
DB00526	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Oxaliplatin
DB00295	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Morphine
DB00958	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Carboplatin
DB01174	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Phenobarbital
DB00987	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Cytarabine
DB00694	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Daunorubicin
DB00773	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Etoposide
DB00650	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Leucovorin
DB01033	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Mercaptopurine
DB00563	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Methotrexate
DB00635	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Prednisone
DB00541	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Vincristine
DB00762	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Irinotecan
DB00224	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Indinavir
DB01072	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Atazanavir
DB00624	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Testosterone
DB00783	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Estradiol
DB00544	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Fluorouracil
DB01101	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Capecitabine
DB01110	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Miconazole
DB00338	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Omeprazole
DB00515	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Cisplatin
DB00316	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Acetaminophen
DB00921	UDP glucuronosyltransferase 1 family, polypeptide A1	illicit; approved; investigational	Buprenorphine
DB00977	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Ethinyl Estradiol
DB00966	UDP glucuronosyltransferase 1 family, polypeptide A1	approved; investigational	Telmisartan
DB00695	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Furosemide
DB00712	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Flurbiprofen
DB01050	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Ibuprofen
DB01009	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Ketoprofen
DB00451	UDP glucuronosyltransferase 1 family, polypeptide A1	approved	Levothyroxine

Top

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