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 EXOSC9

Basic gene info.	Gene symbol	EXOSC9
	Gene name	exosome component 9
	Synonyms	PM/Scl-75\|PMSCL1\|RRP45\|Rrp45p\|p5\|p6
	Cytomap	UCSC genome browser: 4q27
	Genomic location	chr4 :122722471-122738176
	Type of gene	protein-coding
	RefGenes	NM_001034194.1, NM_005033.2,
	Ensembl id	ENSG00000123737
	Description	P75 polymyositis-scleroderma overlap syndrome associated autoantigenP75 polymyositis-scleroderma overlap syndrome-associated autoantigenPMSCL autoantigen, 75kDautoantigen PM/Scl 1exosome complex component RRP45exosome complex exonuclease RRP45polymy
	Modification date	20141207
dbXrefs	MIM : 606180
	HGNC : HGNC
	Ensembl : ENSG00000123737
	HPRD : 07315
	Vega : OTTHUMG00000128783
Protein	UniProt: Q06265 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_EXOSC9
	BioGPS: 5393
	Gene Expression Atlas: ENSG00000123737
	The Human Protein Atlas: ENSG00000123737
Pathway	NCI Pathway Interaction Database: EXOSC9
	KEGG: EXOSC9
	REACTOME: EXOSC9
	ConsensusPathDB
	Pathway Commons: EXOSC9
Metabolism	MetaCyc: EXOSC9
	HUMANCyc: EXOSC9
Regulation	Ensembl's Regulation: ENSG00000123737
	miRBase: chr4 :122,722,471-122,738,176
	TargetScan: NM_001034194
	cisRED: ENSG00000123737
Context	iHOP: EXOSC9
	cancer metabolism search in PubMed: EXOSC9
	UCL Cancer Institute: EXOSC9
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for EXOSC9(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: EXOSC9
	Familial Cancer Database: EXOSC9

* 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
REACTOME_METABOLISM_OF_MRNA REACTOME_METABOLISM_OF_RNA

Others
OMIM	606180; gene.
Orphanet
Disease	KEGG Disease: EXOSC9
	MedGen: EXOSC9 (Human Medical Genetics with Condition)
	ClinVar: EXOSC9
Phenotype	MGI: EXOSC9 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: EXOSC9

Mutations for EXOSC9

* 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 EXOSC9 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=3

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=48)	Stat. for Synonymous SNVs (# total SNVs=13)

Stat. for Deletions (# total SNVs=4)	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
chr4:122723894-122723894	p.F78fs*23	3
chr4:122723012-122723012	p.R33G	3
chr4:122731249-122731249	p.D245Y	2
chr4:122734525-122734525	p.P322S	2
chr4:122737561-122737561	p.E415E	2
chr4:122737562-122737562	p.M416V	2
chr4:122728764-122728764	p.F198V	2
chr4:122735086-122735086	p.W347S	2
chr4:122722639-122722639	p.E20D	2
chr4:122723885-122723885	p.E73V	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=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	4	3	2	9	1		1		2	1		1	1				3	5		8
# mutation	4	3	2	9	1		1		2	1		1	1				3	5		9
nonsynonymous SNV	4	3	2	8	1		1		1	1			1				2	3		8
synonymous SNV				1					1			1					1	2		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
chr4:122735121	p.E359K,EXOSC9	2
chr4:122724116	p.D405H,EXOSC9	1
chr4:122731149	p.I35F,EXOSC9	1
chr4:122722619	p.F199Y,EXOSC9	1
chr4:122735086	p.E211E,EXOSC9	1
chr4:122724120	p.P408R,EXOSC9	1
chr4:122731151	p.E49G,EXOSC9	1
chr4:122722621	p.R212Q,EXOSC9	1
chr4:122725790	p.P424S,EXOSC9	1
chr4:122731160	p.F78L,EXOSC9	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 EXOSC9 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 EXOSC9

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


ANAPC10,CCNA2,CENPH,CISD2,EXOSC9,GAR1,H2AFZ, HMGB2,HNRNPD,MAD2L1,CENPU,MND1,MRPL1,PSMC3IP, PTTG1,SRSF2,SRSF3,SRSF7,SNRPD1,TROAP,UBE2T	BRIX1,C3orf33,CDK7,DNAJC2,DNTTIP2,EXOSC9,GTF2B, H3F3B,INTS12,MED6,NAE1,NOP58,PRPF18,RCAN1, TRMT10C,SRSF3,SRSF7,TAF11,TRA2B,YTHDF2,ZNF165

C4orf27,CCNA2,CCNB1,CDC20,CDC45,EXOSC9,H2AFZ, HMGB2,LSM6,MAD2L1,CENPU,MND1,MRPS18C,NDUFC1, PLK4,PSMA4,PSMC3IP,PTTG1,SNRPD1,SPATA5,TIPIN	BRIX1,DNAJC9,EIF4A1,EXOSC9,GTPBP4,KIAA0101,LTV1, MAK16,NME1,NOP58,PA2G4,PNPT1,RANBP1,RFC3, RFC4,SRSF3,SRSF7,SNRPD1,TFDP1,UTP6,VRK1

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 EXOSC9

There's no related Drug.

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Cross referenced IDs for EXOSC9

* 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