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 POLA1

Basic gene info.	Gene symbol	POLA1
	Gene name	polymerase (DNA directed), alpha 1, catalytic subunit
	Synonyms	NSX\|POLA\|p180
	Cytomap	UCSC genome browser: Xp22.1-p21.3
	Genomic location	chrX :24712063-25015102
	Type of gene	protein-coding
	RefGenes	NM_016937.3,
	Ensembl id	ENSG00000101868
	Description	DNA polymerase alpha 1 catalytic subunitDNA polymerase alpha catalytic subunitDNA polymerase alpha catalytic subunit p180DNA polymerase alpha p180 subunitpolymerase (DNA-directed), alpha (70kD)
	Modification date	20141207
dbXrefs	MIM : 312040
	HGNC : HGNC
	Ensembl : ENSG00000101868
	HPRD : 02416
	Vega : OTTHUMG00000021277
Protein	UniProt: P09884 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_POLA1
	BioGPS: 5422
	Gene Expression Atlas: ENSG00000101868
	The Human Protein Atlas: ENSG00000101868
Pathway	NCI Pathway Interaction Database: POLA1
	KEGG: POLA1
	REACTOME: POLA1
	ConsensusPathDB
	Pathway Commons: POLA1
Metabolism	MetaCyc: POLA1
	HUMANCyc: POLA1
Regulation	Ensembl's Regulation: ENSG00000101868
	miRBase: chrX :24,712,063-25,015,102
	TargetScan: NM_016937
	cisRED: ENSG00000101868
Context	iHOP: POLA1
	cancer metabolism search in PubMed: POLA1
	UCL Cancer Institute: POLA1
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for POLA1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: POLA1
	Familial Cancer Database: POLA1

* 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	312040; gene.
Orphanet
Disease	KEGG Disease: POLA1
	MedGen: POLA1 (Human Medical Genetics with Condition)
	ClinVar: POLA1
Phenotype	MGI: POLA1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: POLA1

Mutations for POLA1

* 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 POLA1 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

DW421192

RPL10

232

153627678

153627842

POLA1

231

298

24806747

24806814

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=7)	Stat. for Synonymous SNVs (# total SNVs=2)

Stat. for Deletions (# total SNVs=0)	Stat. for Insertions (# total SNVs=0)
There's no deleted snv.	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
chr23:24828032-24828032	p.K988K	1
chr23:24828831-24828831	p.L996V	1
chr23:24861721-24861721	p.P1319H	1
chr23:24721401-24721401	p.D62N	1
chr23:24732734-24732734	p.P131L	1
chr23:24732754-24732754	p.F138L	1
chr23:24744172-24744172	p.S458S	1
chr23:24751927-24751927	p.E603D	1
chr23:24753579-24753579	p.H627Y	1
chr23:24767006-24767006	p.A948V	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	2	4	1	17	2		3		2			14	8	3		1	4	6		19
# mutation	2	4	1	16	2		3		2			15	9	3		1	4	6		29
nonsynonymous SNV	2	3	1	12	1		2		2			13	5	1		1	2	4		22
synonymous SNV		1		4	1		1					2	4	2			2	2		7

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
chrX:24732734	p.P131L	3
chrX:24751927	p.S458S	2
chrX:24744172	p.R916Q	2
chrX:24760155	p.D62G	2
chrX:24766501	p.Y968Y	2
chrX:24721402	p.S67S	2
chrX:24767067	p.E789K	2
chrX:24721418	p.E603D	2
chrX:24742543	p.K437N	1
chrX:24766430	p.Q729P	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 POLA1 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 POLA1

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


CKAP5,CLSPN,DHX9,FAM111B,FANCB,HELLS,KNTC1, MBTPS2,MED14,NUP155,POLA1,PRIM1,RRM1,SMC1A, SMC2,SMC3,TMEM194A,TOPBP1,TXLNG,WDHD1,WDR76	ADNP,ANKRD17,CNOT1,DHX33,GTF3C4,KDM5A,GLTSCR1L, ICE1,LATS1,MGA,NUP205,PDS5A,POLA1,PUM1, RAPGEF6,RIF1,RNF169,THOC2,TOP2B,WAPAL,WRN

BRCC3,CASK,CXorf56,ELK1,ENOX2,AMER1,FANCB, GNL3L,HUWE1,LAS1L,MBTPS2,JADE3,PHF8,POLA1, RBBP7,SCML1,SUV39H1,TAB3,THOC2,TRMT2B,TXLNG	ANAPC1,BRCA1,CKAP5,DNMT1,FIGNL1,MCM3,MSH6, NCAPD3,NUP107,NUP155,NUP188,NUP205,POLA1,PRKDC, RRM1,RTTN,SMC2,SUPT16H,TTLL5,WBP11,WDHD1

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 POLA1

Cross-referenced pharmacological DB IDs from Uniprot

DB Category	DB Name	DB's ID and Url link
Chemistry	BindingDB	P09884; -.
Chemistry	ChEMBL	CHEMBL2363042; -.
Organism-specific databases	PharmGKB	PA162399856; -.
Organism-specific databases	CTD	5422; -.

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
DB00242	polymerase (DNA directed), alpha 1, catalytic subunit	approved; investigational	Cladribine
DB00631	polymerase (DNA directed), alpha 1, catalytic subunit	approved; investigational	Clofarabine
DB01073	polymerase (DNA directed), alpha 1, catalytic subunit	approved	Fludarabine
DB01280	polymerase (DNA directed), alpha 1, catalytic subunit	approved; investigational	Nelarabine
DB01050	polymerase (DNA directed), alpha 1, catalytic subunit	approved	Ibuprofen

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Cross referenced IDs for POLA1

* 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