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

Cancer Cell Metabolism Gene Database

Cancer Cell Metabolism Gene DB

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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 SRD5A3

Basic gene info.	Gene symbol	SRD5A3
	Gene name	steroid 5 alpha-reductase 3
	Synonyms	CDG1P\|CDG1Q\|KRIZI\|SRD5A2L\|SRD5A2L1
	Cytomap	UCSC genome browser: 4q12
	Genomic location	chr4 :56212387-56239266
	Type of gene	protein-coding
	RefGenes	NM_024592.4,
	Ensembl id	ENSG00000128039
	Description	3-oxo-5-alpha-steroid 4-dehydrogenase 3S5AR 3SR type 3polyprenol reductaseprobable polyprenol reductase
	Modification date	20141219
dbXrefs	MIM : 611715
	HGNC : HGNC
	Ensembl : ENSG00000128039
	HPRD : 07825
	Vega : OTTHUMG00000128733
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_SRD5A3
	BioGPS: 79644
	Gene Expression Atlas: ENSG00000128039
	The Human Protein Atlas: ENSG00000128039
Pathway	NCI Pathway Interaction Database: SRD5A3
	KEGG: SRD5A3
	REACTOME: SRD5A3
	ConsensusPathDB
	Pathway Commons: SRD5A3
Metabolism	MetaCyc: SRD5A3
	HUMANCyc: SRD5A3
Regulation	Ensembl's Regulation: ENSG00000128039
	miRBase: chr4 :56,212,387-56,239,266
	TargetScan: NM_024592
	cisRED: ENSG00000128039
Context	iHOP: SRD5A3
	cancer metabolism search in PubMed: SRD5A3
	UCL Cancer Institute: SRD5A3
Assigned class in ccmGDB	C

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Phenotypic Information for SRD5A3(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: SRD5A3
	Familial Cancer Database: SRD5A3

* 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
REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

Others
OMIM
Orphanet
Disease	KEGG Disease: SRD5A3
	MedGen: SRD5A3 (Human Medical Genetics with Condition)
	ClinVar: SRD5A3
Phenotype	MGI: SRD5A3 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: SRD5A3

Mutations for SRD5A3

* 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 SRD5A3 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

AI906091

SRD5A3

56225564

56225650

SRD5A3

241

56230240

56230397

Other DBs for Structural Variants

Structural Variants in Ensembl: go to Ensembl Structural variation

Structural Variants in dbVar: go to dbVar

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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

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)

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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=3

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=19)	Stat. for Synonymous SNVs (# total SNVs=8)

Stat. for Deletions (# total SNVs=0)	Stat. for Insertions (# total SNVs=0)
There's no deleted snv.	There's no inserted snv.

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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
chr4:56230311-56230311	p.F145F	3
chr4:56212685-56212685	p.S61L	2
chr4:56236183-56236183	p.L294L	2
chr4:56225634-56225634	p.L115I	2
chr4:56236065-56236065	p.N255I	2
chr4:56230247-56230247	p.E124G	1
chr4:56236091-56236091	p.V264I	1
chr4:56230251-56230251	p.L125L	1
chr4:56236103-56236103	p.V268I	1
chr4:56225519-56225519	p.F76L	1

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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	1		2	3	1		2		1			8	2				2	4		3
# mutation	1		2	3	1		2		1			8	2				2	4		3
nonsynonymous SNV			1	1			1					4	2				1	2		3
synonymous SNV	1		1	2	1		1		1			4					1	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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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
chr4:56230311	p.L294L	2
chr4:56225634	p.L115F	2
chr4:56236183	p.F145F	2
chr4:56230251	p.K56K	1
chr4:56236191	p.C238S	1
chr4:56212671	p.S61L	1
chr4:56236195	p.E249K	1
chr4:56212685	p.P63P	1
chr4:56230347	p.V264I	1
chr4:56236243	p.S83P	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 SRD5A3 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 SRD5A3

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.

: Open all plots for all cancer types

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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

: Open all plots for all cancer types


ABCC12,MAB21L3,HILPDA,DBI,ERO1L,FABP6,FUT3, GGCT,GGT1,GGTLC1,IDH1,KMO,KYNU,MUCL1, PDZK1IP1,MSMO1,SERHL2,SLC31A1,SRD5A3,TMEM165,TRPV6	AGA,C14orf1,COMMD7,DERL2,DPAGT1,G6PC3,GGPS1, HIST1H2BK,MPDU1,MPV17,ORMDL2,PGRMC1,PRDX1,SLC50A1, REEP5,SLC25A17,SPCS1,SRD5A3,TMBIM6,TMCO1,TMEM59

AGR2,ANG,ARFGAP3,TMEM263,GSKIP,CD55,CHST5, CREB3L1,FAM177B,GALNT3,GALNT7,KDELR3,MLPH,REG4, RNASE4,SDR16C5,SLC35A1,SRD5A3,TC2N,TSPAN13,UAP1	ACAT2,C20orf141,NCOR1P1,BPIFA2,CLEC4G,FDFT1,GPX5, KPRP,LCE2C,MEPE,CHODL-AS1,OR1F2P,OR2D2,PGLYRP3, PLA2G4D,RARRES1,SNORA79,SPATS1,SRD5A3,TRIM6-TRIM34,ZSWIM2

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

: Open all plots for all cancer types

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Interacting 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 SRD5A3

There's no related Drug.

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Cross referenced IDs for SRD5A3

* 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