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 ACAA2

Basic gene info.	Gene symbol	ACAA2
	Gene name	acetyl-CoA acyltransferase 2
	Synonyms	DSAEC
	Cytomap	UCSC genome browser: 18q21.1
	Genomic location	chr18 :47309873-47340251
	Type of gene	protein-coding
	RefGenes	NM_006111.2,
	Ensembl id	ENSG00000167315
	Description	3-ketoacyl-CoA thiolase, mitochondrialT1acetyl-Coenzyme A acyltransferase 2beta ketothiolasebeta-ketothiolasemitochondrial 3-oxoacyl-CoA thiolasemitochondrial 3-oxoacyl-Coenzyme A thiolase
	Modification date	20141207
dbXrefs	MIM : 604770
	HGNC : HGNC
	HPRD : 10380
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ACAA2
	BioGPS: 10449
	Gene Expression Atlas: ENSG00000167315
	The Human Protein Atlas: ENSG00000167315
Pathway	NCI Pathway Interaction Database: ACAA2
	KEGG: ACAA2
	REACTOME: ACAA2
	ConsensusPathDB
	Pathway Commons: ACAA2
Metabolism	MetaCyc: ACAA2
	HUMANCyc: ACAA2
Regulation	Ensembl's Regulation: ENSG00000167315
	miRBase: chr18 :47,309,873-47,340,251
	TargetScan: NM_006111
	cisRED: ENSG00000167315
Context	iHOP: ACAA2
	cancer metabolism search in PubMed: ACAA2
	UCL Cancer Institute: ACAA2
Assigned class in ccmGDB	C

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Phenotypic Information for ACAA2(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ACAA2
	Familial Cancer Database: ACAA2

* 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_FATTY_ACID_METABOLISM

Others
OMIM
Orphanet
Disease	KEGG Disease: ACAA2
	MedGen: ACAA2 (Human Medical Genetics with Condition)
	ClinVar: ACAA2
Phenotype	MGI: ACAA2 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ACAA2

Mutations for ACAA2

* 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

There's no inter-chromosomal structural variation.

- 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
ovary	ACAA2	chr18	47337305	47337325	STARD6	chr18	51868789	51868809
pancreas	ACAA2	chr18	47337305	47337325	STARD6	chr18	51868784	51868804
pancreas	ACAA2	chr18	47337305	47337325	STARD6	chr18	51868789	51868809

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 ACAA2 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
BE842124	ACAA2	13	144	18	47313702	47317942	SMG1	137	409	16	18845615	18846340
BQ328229	MAML1	18	302	5	179202226	179202513	ACAA2	294	650	18	47310069	47311692
DA908810	CXorf38	1	353	X	40506259	40506774	ACAA2	352	555	18	47322179	47323966
AV688387	ACAA2	1	438	18	47322176	47339910	LOC100505989	427	449	4	165698716	165698741

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=28)	Stat. for Synonymous SNVs (# total SNVs=7)

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
chr18:47310298-47310298	p.R371R	3
chr18:47320663-47320663	p.Q188H	2
chr18:47320707-47320707	p.I174V	2
chr18:47317852-47317852	p.I291V	2
chr18:47310299-47310299	p.R371H	2
chr18:47322244-47322244	p.C107Y	1
chr18:47310300-47310300	p.R371C	1
chr18:47329180-47329180	p.Y20Y	1
chr18:47318601-47318601	p.P225L	1
chr18:47323856-47323856	p.S98P	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=6

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		8			1					3	1	1			5	4		3
# mutation	1	2		6			1					3	1	1			5	4		3
nonsynonymous SNV	1	2		4			1					2	1	1			2	3		3
synonymous SNV				2								1					3	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
chr18:47310298	p.R371R	3
chr18:47310300	p.R371C	2
chr18:47329180	p.Q326R	1
chr18:47311574	p.H72D	1
chr18:47322138	p.P325S	1
chr18:47329192	p.S63F	1
chr18:47311649	p.A299V	1
chr18:47322175	p.G57G	1
chr18:47329193	p.I291I	1
chr18:47311699	p.Y20Y	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 ACAA2 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 ACAA2

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


ACAA2,ATP5A1,TPGS2,TIMM21,CCNJ,DSC2,DYM, FAM171A1,HDAC2,KDM1A,KIF3C,ME2,MEX3A,MEX3C, MTHFD1L,SKA1,SMAD2,STMN1,TUBA1A,TXNL1,ZC4H2	ABHD15,ACAA2,ACACB,ACO1,ACOT1,ALDH2,AQP7, AQPEP,CIDEC,GBE1,GYG2,KCNIP2,MARC1,PECR, PEX19,PFKFB1,PLA2G16,PNPLA2,PPARG,PPP1R1A,PRDX6

ACAA2,ATP5A1,ATPAF2,C15orf48,LRRC75A,CLDN7,EHD4, FAM118B,GDE1,GGT6,LGALS3,MYO5B,OVCA2,PAFAH2, PPP1R14D,RHOC,RILP,SULT1B1,TAX1BP3,TMEM144,TXNL1	ACAA2,BCAS4,LINC00483,STPG1,CASP7,RHOV___CHP1,MARVELD3, MYL12A,PAPSS2,PKIB,PLAC8,PPP1R14D,RAB9A,RAC1, SFXN1,SPPL2A,TJP3,TMEM45B,TNK1,TPRN,TRIP4

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 ACAA2

There's no related Drug.

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Cross referenced IDs for ACAA2

* 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