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 KDSR

Basic gene info.	Gene symbol	KDSR
	Gene name	3-ketodihydrosphingosine reductase
	Synonyms	DHSR\|FVT1\|SDR35C1
	Cytomap	UCSC genome browser: 18q21.3
	Genomic location	chr18 :60994970-61034506
	Type of gene	protein-coding
	RefGenes	NM_002035.2,
	Ensembl id	ENSG00000119537
	Description	3-dehydrosphinganine reductaseFVT-1KDS reductasefollicular lymphoma variant translocation 1follicular variant translocation protein 1short chain dehydrogenase/reductase family 35C, member 1
	Modification date	20141207
dbXrefs	MIM : 136440
	HGNC : HGNC
	Ensembl : ENSG00000119537
	HPRD : 00640
	Vega : OTTHUMG00000132792
Protein	UniProt: Q06136 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_KDSR
	BioGPS: 2531
	Gene Expression Atlas: ENSG00000119537
	The Human Protein Atlas: ENSG00000119537
Pathway	NCI Pathway Interaction Database: KDSR
	KEGG: KDSR
	REACTOME: KDSR
	ConsensusPathDB
	Pathway Commons: KDSR
Metabolism	MetaCyc: KDSR
	HUMANCyc: KDSR
Regulation	Ensembl's Regulation: ENSG00000119537
	miRBase: chr18 :60,994,970-61,034,506
	TargetScan: NM_002035
	cisRED: ENSG00000119537
Context	iHOP: KDSR
	cancer metabolism search in PubMed: KDSR
	UCL Cancer Institute: KDSR
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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

Cancer Description
Cancer	CGAP: KDSR
	Familial Cancer Database: KDSR

* 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_SPHINGOLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_SPHINGOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

Others
OMIM	136440; gene.
Orphanet
Disease	KEGG Disease: KDSR
	MedGen: KDSR (Human Medical Genetics with Condition)
	ClinVar: KDSR
Phenotype	MGI: KDSR (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: KDSR

Mutations for KDSR

* 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

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- 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
pancreas	KDSR	chr18	60998170	60998190	C18orf34	chr18	30824849	30824869

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 KDSR 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

AA258694

KDSR

60996006

60996073

CNN2

325

1038784

1039041

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=2

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=10)	Stat. for Synonymous SNVs (# total SNVs=4)

Stat. for Deletions (# total SNVs=1)	Stat. for Insertions (# 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
chr18:61022770-61022770	p.V94V	2
chr18:61022447-61022447	p.S136T	2
chr18:61011655-61011655	p.E227D	1
chr18:61018179-61018179	p.T184K	1
chr18:61022791-61022791	p.V87V	1
chr18:61018226-61018226	p.I168I	1
chr18:61027001-61027001	p.E75*	1
chr18:60999039-60999039	p.S325S	1
chr18:61018276-61018276	p.P152S	1
chr18:61030017-61030017	p.N65H	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=1

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			1					1	1				3	2	1	4
# mutation				1			1					1	1				3	2	1	5
nonsynonymous SNV				1								1	1				2	2	1	3
synonymous SNV							1										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
chr18:61018297	p.V104G	1
chr18:61022445	p.L70L	1
chr18:61022457	p.N65H	1
chr18:60999039	p.S325S	1
chr18:61022495	p.R301C	1
chr18:60999113	p.V284V	1
chr18:61022741	p.M273T	1
chr18:61002517	p.F263L	1
chr18:61027014	p.K231N	1
chr18:61002551	p.I168I	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 KDSR 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 KDSR

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


BCL2,C18orf25,HDHD2,IER3IP1,KDSR,TRAPPC8,KIAA1468, LMAN1,MEX3C,NARS,PHLPP1,PIAS2,PIGN,PIK3C3, RPRD1A,SMAD2,SMAD4,TMX3,VPS4B,ZNF24,ZNF271P	CASC4,CLDND1,CTSO,DPYD,EXOC1,FBXL3,HIAT1, IDS,KDSR,LIN7C,LMBRD1,MIER1,NFE2L2,SEPT10, SPTLC1,TM9SF3,TRAM1,TROVE2,TRPC1,TWSG1,YIPF5

ASPHD2,C18orf25,C18orf32,DAPK1,DUSP4,FECH,IER3IP1, KDSR,MBP,MEX3C,NKX3-1,PMP22,RTTN,SLC39A6, SMAD2,SMAD4,SOCS6,TMX3,TRIB2,VPS4B,ZCCHC2	ATP1B2,C1QTNF7,C7,CSDE1,CYP2U1,DDHD2,ECM2, FAM172A,FLJ16779,GABARAPL1,GALNT16,KCND2,KDSR,LHFP, NAP1L5,NR3C1,CPQ,RALYL,SVOP,SYN2,SYT4

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 KDSR

There's no related Drug.

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Cross referenced IDs for KDSR

* 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