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 ACSM3

Basic gene info.	Gene symbol	ACSM3
	Gene name	acyl-CoA synthetase medium-chain family member 3
	Synonyms	SA\|SAH
	Cytomap	UCSC genome browser: 16p13.11
	Genomic location	chr16 :20775311-20797638
	Type of gene	protein-coding
	RefGenes	NM_005622.3, NM_202000.2,
	Ensembl id	ENSG00000005187
	Description	SA (rat hypertension-associated) homologSA hypertension-associated homologacyl-coenzyme A synthetase ACSM3, mitochondrialbutyrate--CoA ligase 3butyryl-coenzyme A synthetase 3middle-chain acyl-CoA synthetase 3protein SA homolog
	Modification date	20141207
dbXrefs	MIM : 145505
	HGNC : HGNC
	Ensembl : ENSG00000005187
	HPRD : 07033
	Vega : OTTHUMG00000131552
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ACSM3
	BioGPS: 6296
	Gene Expression Atlas: ENSG00000005187
	The Human Protein Atlas: ENSG00000005187
Pathway	NCI Pathway Interaction Database: ACSM3
	KEGG: ACSM3
	REACTOME: ACSM3
	ConsensusPathDB
	Pathway Commons: ACSM3
Metabolism	MetaCyc: ACSM3
	HUMANCyc: ACSM3
Regulation	Ensembl's Regulation: ENSG00000005187
	miRBase: chr16 :20,775,311-20,797,638
	TargetScan: NM_005622
	cisRED: ENSG00000005187
Context	iHOP: ACSM3
	cancer metabolism search in PubMed: ACSM3
	UCL Cancer Institute: ACSM3
Assigned class in ccmGDB	C

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Phenotypic Information for ACSM3(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ACSM3
	Familial Cancer Database: ACSM3

* 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_BUTANOATE_METABOLISM

Others
OMIM
Orphanet
Disease	KEGG Disease: ACSM3
	MedGen: ACSM3 (Human Medical Genetics with Condition)
	ClinVar: ACSM3
Phenotype	MGI: ACSM3 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ACSM3

Mutations for ACSM3

* 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 ACSM3 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

BQ316181

MLH3

416

75483703

75485719

ACSM3

411

641

20792103

20792449

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=13

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=66)	Stat. for Synonymous SNVs (# total SNVs=13)

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
chr16:20803451-20803451	p.G485V	13
chr16:20793081-20793081	p.R331*	3
chr16:20796428-20796428	p.T381M	3
chr16:20803563-20803563	p.R487Q	3
chr16:20781479-20781479	p.S41S	3
chr16:20781555-20781555	p.Q67*	2
chr16:20781559-20781559	p.W68*	2
chr16:20796405-20796405	p.Y373Y	2
chr16:20792168-20792168	p.S257S	2
chr16:20803392-20803392	p.M465I	2

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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	1	1		8	1		4		2	1		4	4	2			7	4		13
# mutation	1	1		7	1		4		2	1		5	4	2			7	4		17
nonsynonymous SNV		1		5	1		1		2			4	4	1			7	3		15
synonymous SNV	1			2			3			1		1		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
chr16:20781479	p.S41S,ACSM3	3
chr16:20796428	p.R487Q	2
chr16:20803563	p.T381M,ACSM3	2
chr16:20807792	p.C349G,ACSM3	1
chr16:20788733	p.A475A	1
chr16:20796340	p.R88I,ACSM3	1
chr16:20803376	p.A352S,ACSM3	1
chr16:20781555	p.D479N	1
chr16:20807798	p.R94R,ACSM3	1
chr16:20788787	p.I356T,ACSM3	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 ACSM3 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 ACSM3

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


ACSM3,ADH1C,AFF2,AKR1B15,CHRNA2,EML5,EYS, GNAL,ISX,IYD,KLRF1,KPNA7,LOC255167,ME1, PLD5,RLN3,SC5D,SPINK8,SRD5A1,VSX2,WDR64	ABCC11,ABCC2,ACSM3,AFMID,AKR1D1,B3GAT1,C6orf223, CHRNA2,CHST1,CLDN14,GSTT2,HMGCR,INSM2,LOC255167, OR4N4,RIMS1,SLC5A11,SLCO1B1,SYCP1,TRPC7,ZP2

ACSM1,ACSM3,CRYM,GNG13,HTR3C,HTR3E,LOC100189589, NPY6R,NXF3,OR2T34,PRH1,PRH2,RGS13,RGS21, SH2D6,SH2D7,TAS1R1,TAS1R2,TCL6,THUMPD1,USP26	ACSM3,BSPRY,HMGN2P46,CDC25C,CEP70,CNOT10,COX5A, EHF,ERLIN1,FRAT2,MLEC,MTIF2,MYB,RTN4IP1, SCO1,STARD7,STIL,TAF5,TRIM34,WIPI1,ZNF695

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 ACSM3

There's no related Drug.

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Cross referenced IDs for ACSM3

* 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