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 ACADL

Basic gene info.	Gene symbol	ACADL
	Gene name	acyl-CoA dehydrogenase, long chain
	Synonyms	ACAD4\|LCAD
	Cytomap	UCSC genome browser: 2q34
	Genomic location	chr2 :211052715-211090215
	Type of gene	protein-coding
	RefGenes	NM_001608.3,
	Ensembl id	ENSG00000115361
	Description	acyl-Coenzyme A dehydrogenase, long chainlong-chain specific acyl-CoA dehydrogenase, mitochondrial
	Modification date	20141211
dbXrefs	MIM : 609576
	HGNC : HGNC
	Ensembl : ENSG00000115361
	HPRD : 01939
	Vega : OTTHUMG00000132989
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ACADL
	BioGPS: 33
	Gene Expression Atlas: ENSG00000115361
	The Human Protein Atlas: ENSG00000115361
Pathway	NCI Pathway Interaction Database: ACADL
	KEGG: ACADL
	REACTOME: ACADL
	ConsensusPathDB
	Pathway Commons: ACADL
Metabolism	MetaCyc: ACADL
	HUMANCyc: ACADL
Regulation	Ensembl's Regulation: ENSG00000115361
	miRBase: chr2 :211,052,715-211,090,215
	TargetScan: NM_001608
	cisRED: ENSG00000115361
Context	iHOP: ACADL
	cancer metabolism search in PubMed: ACADL
	UCL Cancer Institute: ACADL
Assigned class in ccmGDB	C

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

Cancer Description
Cancer	CGAP: ACADL
	Familial Cancer Database: ACADL

* 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 REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

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

Mutations for ACADL

* 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	ACADL	chr2	211067574	211067594	KANSL1L	chr2	211003627	211003647

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 ACADL 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

BQ343589

ACADL

338

211069357

211070643

MAML2

335

409

95805569

95805643

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=3

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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=11)

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
chr2:211085456-211085456	p.R50R	2
chr2:211057599-211057599	p.Q376Q	2
chr2:211069397-211069397	p.E260*	1
chr2:211085455-211085455	p.R50Q	1
chr2:211070496-211070496	p.S210G	1
chr2:211081232-211081232	p.A125A	1
chr2:211057600-211057600	p.Q376P	1
chr2:211069401-211069401	p.T258T	1
chr2:211070506-211070506	p.N206N	1
chr2:211082716-211082716	p.Y115F	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				3	1		2		1	2		3	2				6	3		11
# mutation				3	1		2		1	2		3	2				6	3		12
nonsynonymous SNV				3			2			2		2	2				4	2		7
synonymous SNV					1				1			1					2	1		5

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
chr2:211057583	p.T310A	1
chr2:211070506	p.G139S	1
chr2:211082788	p.A125A	1
chr2:211057609	p.R267Q	1
chr2:211070512	p.Y115F	1
chr2:211082789	p.T258T	1
chr2:211068098	p.E91G	1
chr2:211074971	p.D257N	1
chr2:211082805	p.E91K	1
chr2:211068111	p.E236G	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 ACADL 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 ACADL

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


ACADL,ADH1C,ALOX15B,C6orf223,CTNNA2,DBI,EYS, G6PD,GGTLC1,GGTLC2,HAAO,HPD,OR2W5,OXER1, PGC,RLN3,SERHL2,SLED1,SPINK8,SPINT3,UGT2B28	ACADL,ACO1,ANO6,CAT,FAH,FERMT2,GBE1, GNAI1,GYG2,HEPACAM,KCNIP2,LOC283392,MARC1,MTHFD1, PEX19,PFKFB1,PLIN1,RHOBTB3,SIK2,SORT1,TRHDE

ACADL,AGBL1,ASAP1,BMP6,CCDC181,EFR3A,GLRB, GSN,IFNE,KLF15,LUZP2,NKX6-1,PHF20L1,SLITRK5, SPATA8,ST3GAL1,ST8SIA2,TG,TSPAN19,VEPH1,VWDE	ACADL,BBS5,CDO1,DCT,HOXA4,LARP6,LIMCH1, LRRN4CL,MAPK10,MOXD1,MRAS,NRSN2,OSCP1,PABPC4L, REM1,SIX4,SMARCD3,SYT14,TGFB3,TRNP1,UST

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 ACADL

There's no related Drug.

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Cross referenced IDs for ACADL

* 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