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 IVD

Basic gene info.	Gene symbol	IVD
	Gene name	isovaleryl-CoA dehydrogenase
	Synonyms	ACAD2
	Cytomap	UCSC genome browser: 15q14-q15
	Genomic location	chr15 :40697685-40713512
	Type of gene	protein-coding
	RefGenes	NM_001159508.1, NM_002225.3,
	Ensembl id	ENSG00000128928
	Description	isovaleryl CoA dehydrogenaseisovaleryl Coenzyme A dehydrogenaseisovaleryl-CoA dehydrogenase, mitochondrial
	Modification date	20141211
dbXrefs	MIM : 607036
	HGNC : HGNC
	Ensembl : ENSG00000128928
	HPRD : 09516
	Vega : OTTHUMG00000129984
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_IVD
	BioGPS: 3712
	Gene Expression Atlas: ENSG00000128928
	The Human Protein Atlas: ENSG00000128928
Pathway	NCI Pathway Interaction Database: IVD
	KEGG: IVD
	REACTOME: IVD
	ConsensusPathDB
	Pathway Commons: IVD
Metabolism	MetaCyc: IVD
	HUMANCyc: IVD
Regulation	Ensembl's Regulation: ENSG00000128928
	miRBase: chr15 :40,697,685-40,713,512
	TargetScan: NM_001159508
	cisRED: ENSG00000128928
Context	iHOP: IVD
	cancer metabolism search in PubMed: IVD
	UCL Cancer Institute: IVD
Assigned class in ccmGDB	C

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

Cancer Description
Cancer	CGAP: IVD
	Familial Cancer Database: IVD

* 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_AMINO_ACIDS_AND_DERIVATIVES

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

Mutations for IVD

* 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 IVD 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
AA232469	IVD	1	86	15	40703459	40703544	IVD	81	197	15	40702909	40703487
BM797058	IVD	1	103	15	40711358	40711460	PTGES	99	434	9	132500840	132501175
AI928420	IVD	1	375	15	40713130	40713505	MALAT1	372	456	11	65267923	65268007
AA618569	IVD	1	374	15	40713130	40713505	MALAT1	371	523	11	65267855	65268007

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=5

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=27)	Stat. for Synonymous SNVs (# total SNVs=5)

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
chr15:40699846-40699846	p.T55A	5
chr15:40707606-40707606	p.M298I	2
chr15:40710373-40710373	p.R398*	2
chr15:40702862-40702862	p.H111Y	2
chr15:40710412-40710412	p.E411K	2
chr15:40702940-40702940	p.I137V	2
chr15:40707160-40707160	p.V289G	2
chr15:40699897-40699897	p.D72N	1
chr15:40703778-40703778	p.N195S	1
chr15:40707610-40707610	p.A300T	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=5

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			5			1		1			5	2	2		1	3	7		2
# mutation	1			2			1		1			5	2	2		1	4	8		2
nonsynonymous SNV	1			2			1		1			4		2		1	2	4		1
synonymous SNV												1	2				2	4		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
chr15:40699846	p.T55A	5
chr15:40710403	p.K78K	1
chr15:40700156	p.A270V,IVD	1
chr15:40705252	p.G58R,IVD	1
chr15:40710429	p.M295V,IVD	1
chr15:40702870	p.L83L,IVD	1
chr15:40705279	p.A308T,IVD	1
chr15:40702942	p.I107I,IVD	1
chr15:40707145	p.E322G,IVD	1
chr15:40702993	p.P124P,IVD	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 IVD 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 IVD

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


ARFIP2,BBS4,FAM174B,RMDN3,FOXA1,IVD,KIAA0319L, LCMT2,MFAP1,MOAP1,MPI,FAN1,NDUFAF1,P4HTM, PNPLA4,SPG11,SUOX,TADA2B,TMEM25,TTC8,VPS39	AACS,ACSL3,ADAM2,B3GAT1,DHCR7,DHRS2,FDFT1, GGT1,HIST1H4H,HPGD,IDI1,IVD,LONP2,MPV17L, MVK,PNLIPRP3,PPEF1,SERHL2,SERHL,SULT1C3,UGT2B28

AQR,BAHD1,HYPK,CDAN1,EIF2AK4,RMDN3,FAM98B, GALK2,INO80,IVD,LOC729082,MPI,PAK6,PDIA3, PDIA3P1,PPIP5K1,RPAP1,RPUSD2,RTF1,SFXN2,SPATA5L1	BEND3,C19orf57,EPHB2,FKTN,FOXA1,IVD,LIMD1, LRPPRC,MLEC,MRPS25,PLAGL1,PPM1H,PROM2,RPS10P7, SLC12A2,SUPV3L1,TARS2,TAS1R3,TP53,TRPM5,VGLL4

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 IVD

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
DB03147	isovaleryl-CoA dehydrogenase	experimental	Flavin-Adenine Dinucleotide
DB04036	isovaleryl-CoA dehydrogenase	experimental	Coenzyme a Persulfide
DB00121	isovaleryl-CoA dehydrogenase	approved; nutraceutical	Biotin
DB00149	isovaleryl-CoA dehydrogenase	approved; nutraceutical	L-Leucine

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Cross referenced IDs for IVD

* 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