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 PNPLA3

Basic gene info.	Gene symbol	PNPLA3
	Gene name	patatin-like phospholipase domain containing 3
	Synonyms	ADPN\|C22orf20\|iPLA(2)epsilon
	Cytomap	UCSC genome browser: 22q13.31
	Genomic location	chr22 :44319618-44343448
	Type of gene	protein-coding
	RefGenes	NM_025225.2,
	Ensembl id	ENSG00000100344
	Description	acylglycerol O-acyltransferaseadiponutrincalcium-independent phospholipase A2-epsiloniPLA2-epsiloniPLA2epsilonpatatin-like phospholipase domain-containing protein 3
	Modification date	20141222
dbXrefs	MIM : 609567
	HGNC : HGNC
	Ensembl : ENSG00000100344
	HPRD : 12430
	Vega : OTTHUMG00000150555
Protein	UniProt: Q9NST1 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_PNPLA3
	BioGPS: 80339
	Gene Expression Atlas: ENSG00000100344
	The Human Protein Atlas: ENSG00000100344
Pathway	NCI Pathway Interaction Database: PNPLA3
	KEGG: PNPLA3
	REACTOME: PNPLA3
	ConsensusPathDB
	Pathway Commons: PNPLA3
Metabolism	MetaCyc: PNPLA3
	HUMANCyc: PNPLA3
Regulation	Ensembl's Regulation: ENSG00000100344
	miRBase: chr22 :44,319,618-44,343,448
	TargetScan: NM_025225
	cisRED: ENSG00000100344
Context	iHOP: PNPLA3
	cancer metabolism search in PubMed: PNPLA3
	UCL Cancer Institute: PNPLA3
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for PNPLA3(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: PNPLA3
	Familial Cancer Database: PNPLA3

* 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 BRCA ⁶,	Therapeutic Vulnerabilities in Cancer⁷

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,
6 http://www.nature.com/nature/journal/v490/n7418/full/nature11412.html,
7Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/

Metabolic Pathway Description
KEGG_GLYCEROLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

Others
OMIM	609567; gene. 613282; phenotype.
Orphanet	33271; Non-alcoholic fatty liver disease.
Disease	KEGG Disease: PNPLA3
	MedGen: PNPLA3 (Human Medical Genetics with Condition)
	ClinVar: PNPLA3
Phenotype	MGI: PNPLA3 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: PNPLA3

Mutations for PNPLA3

* 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

* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'.

- 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	PNPLA3	chr22	44336871	44336891	PNPLA3	chr22	44329431	44329451

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 PNPLA3 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

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=5

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=38)	Stat. for Synonymous SNVs (# total SNVs=20)

Stat. for Deletions (# total SNVs=3)	Stat. for Insertions (# total SNVs=2)

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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
chr22:44324727-44324727	p.I148M	3
chr22:44324730-44324730	p.P149P	2
chr22:44333032-44333032	p.P287S	2
chr22:44333050-44333050	p.A293P	2
chr22:44328871-44328871	p.T200T	2
chr22:44342182-44342182	p.F456I	2
chr22:44342183-44342183	p.F456Y	2
chr22:44324726-44324726	p.I148T	2
chr22:44322960-44322960	p.S111S	1
chr22:44332968-44332968	p.S265S	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=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	3	1	1	11			2		3			5	2				2	2		9
# mutation	3	1	1	11			2		3			5	2				3	2		12
nonsynonymous SNV	2	1		6					2			3	1				1	2		7
synonymous SNV	1		1	5			2		1			2	1				2			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
chr22:44335929	p.L346L	2
chr22:44322980	p.T119T	1
chr22:44340602	p.E251D	1
chr22:44328953	p.L398L	1
chr22:44333018	p.R133R	1
chr22:44322984	p.G253D	1
chr22:44340650	p.L398L	1
chr22:44328958	p.D136N	1
chr22:44333039	p.S264L	1
chr22:44323026	p.L402L	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 PNPLA3 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 PNPLA3

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


ASPM,ATP10A,C1orf105,ADTRP,CARD18,CYP2F1,DHCR7, DIAPH2,ELOVL4,EYA3,FADS2,FAM83D,KRT79,NHSL1, PNPLA1,PNPLA3,PNPLA5,PSAPL1,SOAT1,SULF1,UCHL5	ACACA,ACLY,ACSL1,CDKN2C,CYB5A,ELOVL5,EYS, FADS1,FASN,HIBCH,LSS,MCCC1,ME1,OLFM2, PNPLA3,SEL1L2,SUOX,TF,THRSP,TMEM132B,TSKU

ATP5A1,CA9,CLSPN,ELOVL6,GALNT1,HMGCS1,LPIN1, MAP2K1,ME2,PCSK9,PFKP,PGAM1,PIAS2,PKM, PLA2G3,PNPLA3,POLR2A,RBBP8,SREBF1,STARD4,THRAP3	AKAP14,MFSD12,CCNO,CYP24A1,DDX4,ESX1,BRINP2, FMO9P,GAGE2D,GOLGA8DP,HAR1B,INSL6,IRX2,ITGA2B, LIMS3-LOC440895,PAGE1,PNPLA3,SNORA2B,SPRR2E,TBX18,TDRD12

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 PNPLA3

There's no related Drug.

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Cross referenced IDs for PNPLA3

* 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