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 AKR1C1

Basic gene info.	Gene symbol	AKR1C1
	Gene name	aldo-keto reductase family 1, member C1
	Synonyms	2-ALPHA-HSD\|20-ALPHA-HSD\|C9\|DD1\|DD1/DD2\|DDH\|DDH1\|H-37\|HAKRC\|HBAB\|MBAB
	Cytomap	UCSC genome browser: 10p15-p14
	Genomic location	chr10 :5005453-5020158
	Type of gene	protein-coding
	RefGenes	NM_001353.5,
	Ensembl id	ENSG00000266592
	Description	20 alpha-hydroxysteroid dehydrogenase20-alpha-hydroxysteroid dehydrogenasealdo-keto reductase Caldo-keto reductase family 1 member C1chlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenas
	Modification date	20141207
dbXrefs	MIM : 600449
	HGNC : HGNC
	HPRD : 07194
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_AKR1C1
	BioGPS: 1645
	Gene Expression Atlas: ENSG00000266592
	The Human Protein Atlas: ENSG00000266592
Pathway	NCI Pathway Interaction Database: AKR1C1
	KEGG: AKR1C1
	REACTOME: AKR1C1
	ConsensusPathDB
	Pathway Commons: AKR1C1
Metabolism	MetaCyc: AKR1C1
	HUMANCyc: AKR1C1
Regulation	Ensembl's Regulation: ENSG00000266592
	miRBase: chr10 :5,005,453-5,020,158
	TargetScan: NM_001353
	cisRED: ENSG00000266592
Context	iHOP: AKR1C1
	cancer metabolism search in PubMed: AKR1C1
	UCL Cancer Institute: AKR1C1
Assigned class in ccmGDB	C

Top

Phenotypic Information for AKR1C1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: AKR1C1
	Familial Cancer Database: AKR1C1

* 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_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450

Others
OMIM
Orphanet
Disease	KEGG Disease: AKR1C1
	MedGen: AKR1C1 (Human Medical Genetics with Condition)
	ClinVar: AKR1C1
Phenotype	MGI: AKR1C1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: AKR1C1

Mutations for AKR1C1

* 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

* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'.

- 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	AKR1C1	chr10	5017938	5017958		chr10	5029196	5029216
pancreas	AKR1C1	chr10	5012496	5012516		chr10	86375544	86375564
pancreas	AKR1C1	chr10	5012526	5012546	CTNNA3	chr10	68885220	68885240

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 AKR1C1 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

Mutation type/ Tissue ID

brca

cns

cerv

endome

haematopo

kidn

Lintest

liver

lung

ovary

pancre

prost

skin

stoma

thyro

urina

Total # sample

GAIN (# sample)

LOSS (# sample)

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)

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=5

Top

Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=26)	Stat. for Synonymous SNVs (# total SNVs=14)

Stat. for Deletions (# total SNVs=0)	Stat. for Insertions (# total SNVs=0)
There's no deleted snv.	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
chr10:5010572-5010572	p.T147T	5
chr10:5008132-5008132	p.A37A	3
chr10:5008131-5008131	p.A37D	2
chr10:5014844-5014844	p.R250Q	2
chr10:5014886-5014886	p.G264V	2
chr10:5011017-5011017	p.V151M	2
chr10:5009133-5009133	p.S89S	2
chr10:5011032-5011032	p.D156Y	1
chr10:5008105-5008105	p.?	1
chr10:5014488-5014488	p.H222H	1

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		3	1		1				3			2		4		1	3	4		6
# mutation		3	1		1				3			2		4		1	4	4		6
nonsynonymous SNV		3	1		1				2			1		3			2	3		5
synonymous SNV									1			1		1		1	2	1		1

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
chr10:5014844	p.R250Q	2
chr10:5014864	p.I49V	1
chr10:5008137	p.P233P	1
chr10:5011056	p.N57N	1
chr10:5014882	p.L241H	1
chr10:5008151	p.L94V	1
chr10:5011059	p.D109D	1
chr10:5014915	p.L257L	1
chr10:5008166	p.V128M	1
chr10:5011070	p.R263C	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 AKR1C1 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 AKR1C1

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


ADH7,AKR1B10,AKR1C1,AKR1C2,AKR1C3,ALDH3A1,FOXE1, GAGE2B,GPX2,IL36A,IQCF2,KRT13,LOC285629,NAPSA, RBMXL2,SFTPA1,SFTPB,TMPRSS11B,UGT1A5,VCX,VCX3A	AIFM2,AKR1C1,AKR1C2,AKR1C3,ANXA5,BHMT2,BTD, CAV1,DHDDS,EPHX1,GCOM1,GLYAT,ITGB1BP1,ITIH5, ITPK1,MCAM,PALMD,SPARC,TK2,TMEM37,VKORC1L1

AKR1C1,AKR1C2,AKR1C3,AKR1C4,BEX5,BST1,CDH12, CST1,DEFB104A,ENPP2,HAO2,LRRC69,N6AMT2,OR10X1, OR13H1,S100Z,SLC12A1,SLC28A1,TEKT3,UGT1A9,UNC5D	AKR1C1,ARPP21,NYAP1,CELF6,CNTN5,CPLX2,CRIPAK, DDX25,EGFL8,GAL,HCN1,HMP19,JPH3,LOC157627, MYT1,NDRG4,PTPRN,RPH3A,RSPO4,STMN4,TTC9B

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 AKR1C1

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
DB00157	aldo-keto reductase family 1, member C1	approved; nutraceutical	NADH
DB00936	aldo-keto reductase family 1, member C1	approved	Salicyclic acid
DB00945	aldo-keto reductase family 1, member C1	approved	Acetylsalicylic acid
DB03461	aldo-keto reductase family 1, member C1	experimental	2'-Monophosphoadenosine 5'-Diphosphoribose
DB04674	aldo-keto reductase family 1, member C1	experimental	2-HYDROXY-3,5-DIIODOBENZOIC ACID
DB07768	aldo-keto reductase family 1, member C1	experimental	(10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE
DB07931	aldo-keto reductase family 1, member C1	experimental	4-[(1R,2S)-1-ethyl-2-(4-hydroxyphenyl)butyl]phenol

Top

Cross referenced IDs for AKR1C1

* 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