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 HADHA

Basic gene info.	Gene symbol	HADHA
	Gene name	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
	Synonyms	ECHA\|GBP\|HADH\|LCEH\|LCHAD\|MTPA\|TP-ALPHA
	Cytomap	UCSC genome browser: 2p23
	Genomic location	chr2 :26413503-26467594
	Type of gene	protein-coding
	RefGenes	NM_000182.4,
	Ensembl id	ENSG00000084754
	Description	3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit3-oxoacyl-CoA thiolase78 kDa gastrin-binding proteingastrin-binding proteinhydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha
	Modification date	20141207
dbXrefs	MIM : 600890
	HGNC : HGNC
	Ensembl : ENSG00000084754
	HPRD : 02934
	Vega : OTTHUMG00000096979
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HADHA
	BioGPS: 3030
	Gene Expression Atlas: ENSG00000084754
	The Human Protein Atlas: ENSG00000084754
Pathway	NCI Pathway Interaction Database: HADHA
	KEGG: HADHA
	REACTOME: HADHA
	ConsensusPathDB
	Pathway Commons: HADHA
Metabolism	MetaCyc: HADHA
	HUMANCyc: HADHA
Regulation	Ensembl's Regulation: ENSG00000084754
	miRBase: chr2 :26,413,503-26,467,594
	TargetScan: NM_000182
	cisRED: ENSG00000084754
Context	iHOP: HADHA
	cancer metabolism search in PubMed: HADHA
	UCL Cancer Institute: HADHA
Assigned class in ccmGDB	C

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

Cancer Description
Cancer	CGAP: HADHA
	Familial Cancer Database: HADHA

* 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 KEGG_TRYPTOPHAN_METABOLISM KEGG_BETA_ALANINE_METABOLISM KEGG_PROPANOATE_METABOLISM KEGG_BUTANOATE_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

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

Mutations for HADHA

* 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	HADHA	chr2	26442008	26442028	HADHA	chr2	26442999	26443019

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 HADHA 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
AI110722	NID1	1	88	1	236206110	236206197	HADHA	76	569	2	26426936	26437998
AA873450	HADHA	1	357	2	26413742	26414098	CHID1	358	437	11	904706	904786
AF074629	NID1	1	88	1	236206110	236206197	HADHA	76	569	2	26426936	26437998
BF804747	GAS5	11	98	1	173833812	173834423	HADHA	86	107	2	26462649	26462671
BQ330936	HADHA	48	257	2	26417980	26420647	HADHA	254	346	2	26416589	26417478

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=4

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=49)	Stat. for Synonymous SNVs (# total SNVs=19)

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
chr2:26437359-26437359	p.R291*	3
chr2:26424110-26424110	p.D434N	3
chr2:26420604-26420604	p.L479F	2
chr2:26453065-26453065	p.P224L	2
chr2:26457131-26457131	p.P136H	2
chr2:26453103-26453103	p.R211R	2
chr2:26414192-26414192	p.Y740C	2
chr2:26417473-26417473	p.A552V	2
chr2:26437420-26437420	p.A270A	2
chr2:26461797-26461797	p.?	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=4

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	2	1	10	1		2		2	1		4	1	1			6	3	1	7
# mutation	3	2	1	11	1		2		2	1		5	1	1			6	3	1	8
nonsynonymous SNV	3		1	7	1		2		2	1		2		1			6	2	1	7
synonymous SNV		2		4								3	1					1		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
chr2:26424110	p.D434N	3
chr2:26414471	p.R676H	2
chr2:26417502	p.S756S	1
chr2:26462001	p.S453I	1
chr2:26426956	p.M191V	1
chr2:26414143	p.G725G	1
chr2:26455030	p.E439Q	1
chr2:26417961	p.S155L	1
chr2:26462002	p.P711P	1
chr2:26426964	p.D434D	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 HADHA 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 HADHA

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


BRE,SLC35F6,CAD,CCT4,COX7A2L,EEF1A1,EEF1B2, EIF2B4,FAM98A,GPN1,GTF3C2,HADHA,HADHB,IMMT, NBAS,RPS27A,RPS7,SNX17,SUCLG1,TMEM214,TTC27	ACAT1,ADHFE1,ATP5B,ATP5G3,ATPAF1,CHCHD3,DLST, ETFDH,HADHA,HADHB,HOXA10,PDHA1,PDK2,GATB, PGM1,PHYH,SAMM50,SDHB,SLC2A4,ST3GAL3,UQCRC2

ATP5G3,BRE,CCT7,FASTKD1,GTF3C2,HADHA,HADHB, IMMT,LRPPRC,MDH1,MRPL19,MRPL30,MRPL35,MRPS5, MRPS9,MTIF2,NDUFA10,NDUFS1,PTCD3,SUCLG1,TSSC1	ACO2,ACOX1,ACSL5,AGPAT3,ANKS4B,ANO10,DAPK2, GDPD2,HADHA,HADHB,KALRN,KBTBD11,LASP1,LPCAT3, MGAT4A,PBLD,POR,SLC27A4,SLC41A2,SPHK2,TOR1AIP2

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 HADHA

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
DB00157	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	approved; nutraceutical	NADH

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Cross referenced IDs for HADHA

* 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