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 POLR1D

Basic gene info.	Gene symbol	POLR1D
	Gene name	polymerase (RNA) I polypeptide D, 16kDa
	Synonyms	AC19\|POLR1C\|RPA16\|RPA9\|RPAC2\|RPC16\|RPO1-3\|TCS2
	Cytomap	UCSC genome browser: 13q12.2
	Genomic location	chr13 :28194879-28241559
	Type of gene	protein-coding
	RefGenes	NM_001206559.1, NM_015972.3,NM_152705.2,
	Ensembl id	ENSG00000186184
	Description	DNA-directed RNA polymerase I subunit DDNA-directed RNA polymerases I and III subunit RPAC2RNA polymerases I and III subunit AC2
	Modification date	20141219
dbXrefs	MIM : 613715
	HGNC : HGNC
	Ensembl : ENSG00000186184
	HPRD : 14717
	HPRD : 17877
	Vega : OTTHUMG00000016635
Protein	UniProt: Q9Y2S0 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_POLR1D
	BioGPS: 51082
	Gene Expression Atlas: ENSG00000186184
	The Human Protein Atlas: ENSG00000186184
Pathway	NCI Pathway Interaction Database: POLR1D
	KEGG: POLR1D
	REACTOME: POLR1D
	ConsensusPathDB
	Pathway Commons: POLR1D
Metabolism	MetaCyc: POLR1D
	HUMANCyc: POLR1D
Regulation	Ensembl's Regulation: ENSG00000186184
	miRBase: chr13 :28,194,879-28,241,559
	TargetScan: NM_001206559
	cisRED: ENSG00000186184
Context	iHOP: POLR1D
	cancer metabolism search in PubMed: POLR1D
	UCL Cancer Institute: POLR1D
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for POLR1D(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: POLR1D
	Familial Cancer Database: POLR1D

* 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_PURINE_METABOLISM KEGG_PYRIMIDINE_METABOLISM

Others
OMIM	613715; gene. 613717; phenotype.
Orphanet	861; Treacher-Collins syndrome.
Disease	KEGG Disease: POLR1D
	MedGen: POLR1D (Human Medical Genetics with Condition)
	ClinVar: POLR1D
Phenotype	MGI: POLR1D (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: POLR1D

Mutations for POLR1D

* 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 POLR1D 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

BM544526

POLR1D

769

28240082

28240850

CHORDC1

769

993

89944383

89947307

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=10)	Stat. for Synonymous SNVs (# total SNVs=6)

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
chr13:28239940-28239940	p.A73A	4
chr13:28239925-28239925	p.G68G	2
chr13:28239970-28239970	p.P83P	2
chr13:28239829-28239829	p.K36K	1
chr13:28239978-28239978	p.H86L	1
chr13:28239833-28239833	p.P38S	1
chr13:28239997-28239997	p.K92K	1
chr13:28239857-28239857	p.L47fs*1	1
chr13:28240009-28240009	p.R96R	1
chr13:28239860-28239860	p.L47V	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	3		6								2	1					2		5
# mutation	3	3		7								2	1					2		5
nonsynonymous SNV	2	3		7								2	1					1		3
synonymous SNV	1																	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
chr13:28239925	p.R56P	2
chr13:28197152	p.G40G,POLR1D	2
chr13:28197146	p.S54F	1
chr13:28197151	p.A73V,POLR1D	1
chr13:28239962	p.R56C	1
chr13:28239978	p.Y75C,POLR1D	1
chr13:28197186	p.R79Q,POLR1D	1
chr13:28240009	p.F67L	1
chr13:28197203	p.R90L,POLR1D	1
chr13:28240022	p.T73I	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 POLR1D 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 POLR1D

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


ALG5,EBPL,EXOSC8,GTF2F2,GTF3A,HMGB1,LNX2, MRPL57,MTIF3,N6AMT2,PAN3,POLR1D,POMP,RNASEH2B, RPL21,RPL24,RPL38,RPS13,RPS29,SAP18,TPT1	C18orf21,EIF3H,EIF3M,HINT1,IGBP1,LINC00493,LRRC75A-AS1, PCBP2,POLR1D,RPL22,RPL30,RPL32,RPL35A,RPL38, RPL41,RPL6,RPS13,RPS15A,RPS23,RPS29,TIMM9

ALG5,CDK8,COMMD6,MICU2,GTF2F2,GTF3A,GPALPP1, LNX2,MED4,MRPL57,MRPS31,MTIF3,NUFIP1,PAN3, PCID2,POLR1D,POMP,RNASEH2B,RNF6,SAP18,UBAC2	BOLA1,C12orf10,APOPT1,DGCR6L,EEF1A1,ELP2,FAM175A, KBTBD3,KLHDC3,MRPL10,NACA,POLR1D,PPIE,R3HCC1, RBMX2,RPL15,THAP11,THYN1,VPS72,ZDHHC4,ZMAT5

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 POLR1D

There's no related Drug.

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Cross referenced IDs for POLR1D

* 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