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 HMGCL

Basic gene info.	Gene symbol	HMGCL
	Gene name	3-hydroxymethyl-3-methylglutaryl-CoA lyase
	Synonyms	HL
	Cytomap	UCSC genome browser: 1p36.1-p35
	Genomic location	chr1 :24128366-24151949
	Type of gene	protein-coding
	RefGenes	NM_000191.2, NM_001166059.1,
	Ensembl id	ENSG00000117305
	Description	3-hydroxy-3-methylglutarate-CoA lyase3-hydroxy-3-methylglutaryl-CoA lyase3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyaseHMG-CoA lyasehydroxymethylglutaricaciduriahydroxymethylglutaryl-CoA lyase, mitochondrialmitochondrial 3-hydroxy-3-methylglutary
	Modification date	20141207
dbXrefs	MIM : 613898
	HGNC : HGNC
	Ensembl : ENSG00000117305
	HPRD : 02003
	Vega : OTTHUMG00000002963
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HMGCL
	BioGPS: 3155
	Gene Expression Atlas: ENSG00000117305
	The Human Protein Atlas: ENSG00000117305
Pathway	NCI Pathway Interaction Database: HMGCL
	KEGG: HMGCL
	REACTOME: HMGCL
	ConsensusPathDB
	Pathway Commons: HMGCL
Metabolism	MetaCyc: HMGCL
	HUMANCyc: HMGCL
Regulation	Ensembl's Regulation: ENSG00000117305
	miRBase: chr1 :24,128,366-24,151,949
	TargetScan: NM_000191
	cisRED: ENSG00000117305
Context	iHOP: HMGCL
	cancer metabolism search in PubMed: HMGCL
	UCL Cancer Institute: HMGCL
Assigned class in ccmGDB	C

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

Cancer Description
Cancer	CGAP: HMGCL
	Familial Cancer Database: HMGCL

* 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 REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

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

Mutations for HMGCL

* 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 HMGCL 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
AB209902	POLE	1	3576	12	133225513	133254307	HMGCL	3572	5067	1	24128377	24147086
BF749404	HMGCL	30	335	1	24128813	24130950	HMGCL	333	640	1	24128619	24128927
AI202943	HMGCL	10	347	1	24128367	24128704	VPS37B	345	423	12	123379777	123379856

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=2

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=13)	Stat. for Synonymous SNVs (# total SNVs=9)

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
chr1:24137288-24137288	p.Y167H	2
chr1:24140706-24140706	p.A157A	2
chr1:24143254-24143254	p.D87Y	1
chr1:24130916-24130923	p.V282fs*31	1
chr1:24151878-24151878	p.R10W	1
chr1:24137263-24137263	p.P175L	1
chr1:24144012-24144012	p.S69C	1
chr1:24130925-24130925	p.L281L	1
chr1:24144014-24144014	p.L68L	1
chr1:24130960-24130960	p.A269V	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=1

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				4						1			3	1			8	1		4
# mutation				4						1			3	1			8	1		4
nonsynonymous SNV				1						1			1				4			2
synonymous SNV				3									2	1			4	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
chr1:24130925	p.T221T,HMGCL	1
chr1:24143192	p.L59L,HMGCL	1
chr1:24130960	p.L210L,HMGCL	1
chr1:24143197	p.I50I,HMGCL	1
chr1:24130962	p.A198V,HMGCL	1
chr1:24143201	p.R41Q,HMGCL	1
chr1:24130967	p.Y197Y,HMGCL	1
chr1:24144014	p.P40T,HMGCL	1
chr1:24130998	p.P196S,HMGCL	1
chr1:24144041	p.I35M,HMGCL	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 HMGCL 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 HMGCL

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


ACBD4,AKR7A2,CCDC24,CHCHD5,COQ4,GAMT,GHDC, HEXIM2,HMGCL,JMJD8,MYL5,NPRL2,NSMCE1,PARK7, RAB17,STK16,TEX264,TMEM115,TMEM219,TMEM222,ZNF688	ATP5I,COX14,APOPT1,C21orf33,COPS7A,COX6B1,ECH1, HAX1,HMGCL,MAF1,MRPL16,MRPL40,MRPL41,MRPS11, NDUFA8,NDUFB8,PARK7,PRDX2,PSMD4,TACO1,WBSCR16

AKR7A2,ATPIF1,MINOS1,KDF1,STPG1,CPT2,FUCA1, GALE,GPN2,HMGCL,LYPLA2,PAFAH2,PEF1,PIGV, PQLC2,RPS6KA1,TMCO4,TMEM125,TMEM50A,TMEM54,TSPO	ABCC6P2,ACADS,AIFM3,AUH,C11orf71,PPP1R36,KDF1, C21orf33,COX5B,DUSP23,GJB1,HMGCL,MAN1B1,PCTP, PGLS,PXMP2,TEX264,THAP4,TMEM134,TST,TSTD1

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 HMGCL

There's no related Drug.

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Cross referenced IDs for HMGCL

* 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