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 TBCC

Basic gene info.	Gene symbol	TBCC
	Gene name	tubulin folding cofactor C
	Synonyms	CFC
	Cytomap	UCSC genome browser: 6p21.1
	Genomic location	chr6 :42712233-42713884
	Type of gene	protein-coding
	RefGenes	NM_003192.2,
	Ensembl id	ENSG00000124659
	Description	tubulin-folding cofactor Ctubulin-specific chaperone C
	Modification date	20141207
dbXrefs	MIM : 602971
	HGNC : HGNC
	Ensembl : ENSG00000124659
	HPRD : 04276
	Vega : OTTHUMG00000014704
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_TBCC
	BioGPS: 6903
	Gene Expression Atlas: ENSG00000124659
	The Human Protein Atlas: ENSG00000124659
Pathway	NCI Pathway Interaction Database: TBCC
	KEGG: TBCC
	REACTOME: TBCC
	ConsensusPathDB
	Pathway Commons: TBCC
Metabolism	MetaCyc: TBCC
	HUMANCyc: TBCC
Regulation	Ensembl's Regulation: ENSG00000124659
	miRBase: chr6 :42,712,233-42,713,884
	TargetScan: NM_003192
	cisRED: ENSG00000124659
Context	iHOP: TBCC
	cancer metabolism search in PubMed: TBCC
	UCL Cancer Institute: TBCC
Assigned class in ccmGDB	C

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

Cancer Description
Cancer	CGAP: TBCC
	Familial Cancer Database: TBCC

* 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_PROTEINS

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

Mutations for TBCC

* 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 TBCC related fusion information.

ID	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
BQ670175	TBCC	1	439	6	42712531	42712968	TNFRSF12A	440	565	16	3072058	3072183
BQ052721	ISG20	1	107	15	89182271	89182642	TBCC	108	374	6	42713447	42713713
BE349632	TBCC	8	249	6	42712236	42712477	ELMO1	247	451	7	36954372	36954576

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

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

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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=21)	Stat. for Synonymous SNVs (# total SNVs=5)

Stat. for Deletions (# total SNVs=1)	Stat. for Insertions (# total SNVs=0)
	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
chr6:42713803-42713803	p.S3S	3
chr6:42712887-42712887	p.D309H	1
chr6:42713214-42713214	p.E200Q	1
chr6:42713543-42713543	p.R90P	1
chr6:42712914-42712914	p.D300N	1
chr6:42713228-42713228	p.E195V	1
chr6:42713552-42713552	p.A87E	1
chr6:42712916-42712916	p.I299T	1
chr6:42713244-42713244	p.E190*	1
chr6:42713573-42713573	p.S80L	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	2	3		4				1	1			2	3		1			1	1	2
# mutation	4	3		4				1	1			2	3		1			1	1	2
nonsynonymous SNV	3	3		4				1				2	1		1			1		1
synonymous SNV	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])

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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
chr6:42713803	p.S3S	2
chr6:42712938	p.E247Q	1
chr6:42713552	p.E200Q	1
chr6:42712981	p.K172N	1
chr6:42713573	p.P159S	1
chr6:42713039	p.F137F	1
chr6:42713641	p.A122A	1
chr6:42713073	p.Q121H	1
chr6:42713653	p.A329A	1
chr6:42713214	p.R90P	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 TBCC 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 TBCC

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


BYSL,OARD1,CCND3,CUL7,FLJ41941,KLC4,KLHDC3, SKOR1,MED20,MRPL2,NFYA,OLIG1,OLIG2,POLR1C, RPL7L1,SLC29A1,TBCC,TJAP1,TOMM6,UCMA,USP49	ATP5G2,BANF1,CLP1,IMP3,LCMT1,LSM2,MAD2L1BP, MRPL57,MRPL18,MRPL9,NHP2L1,PDXP,RNF5,SCNM1, SNRPC,TBCC,THAP11,TMEM203,UBL7,ZCCHC3,ZNRD1

ABT1,ASF1A,KLHDC3,LSM2,LYRM4,MAD2L1BP,MEA1, MRPL14,MRPS10,POLR1C,PPIL1,NELFE,RPS10,RPS18, SNRPC,TAF11,TBCC,TMEM14C,TOMM6,UBL5,ZNRD1	AAMP,BAK1,BCL2L10,CASP3,CXCR2P1,DAO,HARBI1, HCCS,IFI27L1,NCR1,NT5C3A,RRAGC,SNORA72,SOD1, TBCC,TDRD7,TMEM54,TMSB4XP8,TRIM31,UBB,USF1

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 TBCC

There's no related Drug.

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Cross referenced IDs for TBCC

* 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