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 CSPG4

Basic gene info.	Gene symbol	CSPG4
	Gene name	chondroitin sulfate proteoglycan 4
	Synonyms	HMW-MAA\|MCSP\|MCSPG\|MEL-CSPG\|MSK16\|NG2
	Cytomap	UCSC genome browser: 15q24.2
	Genomic location	chr15 :75966662-76005189
	Type of gene	protein-coding
	RefGenes	NM_001897.4,
	Ensembl id	ENSG00000173546
	Description	chondroitin sulfate proteoglycan 4 (melanoma-associated)chondroitin sulfate proteoglycan NG2melanoma chondroitin sulfate proteoglycanmelanoma-associated chondroitin sulfate proteoglycan
	Modification date	20141207
dbXrefs	MIM : 601172
	HGNC : HGNC
	Ensembl : ENSG00000173546
	HPRD : 03105
	Vega : OTTHUMG00000142836
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CSPG4
	BioGPS: 1464
	Gene Expression Atlas: ENSG00000173546
	The Human Protein Atlas: ENSG00000173546
Pathway	NCI Pathway Interaction Database: CSPG4
	KEGG: CSPG4
	REACTOME: CSPG4
	ConsensusPathDB
	Pathway Commons: CSPG4
Metabolism	MetaCyc: CSPG4
	HUMANCyc: CSPG4
Regulation	Ensembl's Regulation: ENSG00000173546
	miRBase: chr15 :75,966,662-76,005,189
	TargetScan: NM_001897
	cisRED: ENSG00000173546
Context	iHOP: CSPG4
	cancer metabolism search in PubMed: CSPG4
	UCL Cancer Institute: CSPG4
Assigned class in ccmGDB	C

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Phenotypic Information for CSPG4(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: CSPG4
	Familial Cancer Database: CSPG4

* 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_CARBOHYDRATES

Others
OMIM
Orphanet
Disease	KEGG Disease: CSPG4
	MedGen: CSPG4 (Human Medical Genetics with Condition)
	ClinVar: CSPG4
Phenotype	MGI: CSPG4 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: CSPG4

Mutations for CSPG4

* 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 CSPG4 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

CD172355

CSPG4

508

75977076

75977889

SON

506

806

34945612

34948153

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=6

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=133)	Stat. for Synonymous SNVs (# total SNVs=74)

Stat. for Deletions (# total SNVs=3)	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
chr15:75982085-75982085	p.E441K	6
chr15:75981507-75981507	p.G633G	3
chr15:75982239-75982239	p.D389D	3
chr15:75968340-75968340	p.A2174P	3
chr15:75981976-75981976	p.R477H	3
chr15:75982513-75982513	p.I298T	3
chr15:75968836-75968836	p.G2008G	3
chr15:75982428-75982428	p.G326G	3
chr15:75982058-75982058	p.R450W	3
chr15:75982072-75982072	p.A445V	3

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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=3

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	12	1	15	4		6		5	1	1	23	5	3		3	14	18	1	18
# mutation	3	12	2	18	4		6		5	1	1	26	7	3		3	16	24	1	23
nonsynonymous SNV	2	5	1	11	3		3		4	1	1	17	3	2		2	7	17	1	14
synonymous SNV	1	7	1	7	1		3		1			9	4	1		1	9	7		9

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
chr15:75968105	p.G2008G	2
chr15:75979817	p.D498E	2
chr15:75968313	p.T102M	2
chr15:75968836	p.V1197I	2
chr15:75981912	p.T2252M	2
chr15:75968548	p.R2183W	2
chr15:75982632	p.G258G	2
chr15:75983101	p.P2104P	2
chr15:75969124	p.V549V	1
chr15:75983118	p.A1787D	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 CSPG4 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 CSPG4

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


ARL10,CHST3,CMTM5,COL4A2,CSPG4,EVX2,EXTL1, EVA1A,FAM19A3,GPX6,HAPLN4,LIX1,MFGE8,NRXN2, PMP2,RLBP1,SHC4,SOX6,TIAM2,TRPV4,UBL4B	ABHD15,ACACB,AFAP1L1,AGPAT2,ALDH1L1,AQP7P1,C14orf180, CAMK1,CEBPA,CIDEC,COL4A2,CSPG4,ITGA7,LIPE, MLXIPL,PC,PKDCC,PLA2G16,PNPLA2,RXRA,TMEM132C

ARHGEF17,CNTNAP1,CSPG4,CXorf36,DAAM2,DIXDC1,EHD2, FAM129A,FILIP1,GJC1,HSPG2,ITGB3,JPH2,KIAA1462, MAP1A,MAP1B,MCAM,MMRN2,MRVI1,MSRB3,TGFB1I1	ADARB1,AHNAK2,COL4A1,CSPG4,DCHS1,DMD,DOCK3, EHD2,EVC,FRMPD4,FYCO1,GLI2,LAMA5,LAMB2, MAP4,NBEA,POU3F4,PRICKLE2,RNF150,RYR3,TEAD1

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 CSPG4

There's no related Drug.

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Cross referenced IDs for CSPG4

* 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