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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for POLD2 |
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Phenotypic Information for POLD2(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: POLD2 |
Familial Cancer Database: POLD2 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
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/ |
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KEGG_PURINE_METABOLISM KEGG_PYRIMIDINE_METABOLISM |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: POLD2 |
MedGen: POLD2 (Human Medical Genetics with Condition) | |
ClinVar: POLD2 | |
Phenotype | MGI: POLD2 (International Mouse Phenotyping Consortium) |
PhenomicDB: POLD2 |
Mutations for POLD2 |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows POLD2 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 |
BQ447574 | POLD2 | 18 | 138 | 7 | 44154286 | 44154406 | CHST14 | 134 | 568 | 15 | 40763884 | 40764316 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   | 1 |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   | 1 |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   | |||
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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Stat. for Non-Synonymous SNVs (# total SNVs=22) | (# total SNVs=11) |
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(# total SNVs=1) | (# total SNVs=0) |
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* 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 |
chr7:44156512-44156512 | p.D228D | 2 |
chr7:44156578-44156578 | p.G206G | 2 |
chr7:44157611-44157611 | p.C91W | 2 |
chr7:44156474-44156474 | p.V241G | 1 |
chr7:44157329-44157329 | p.P119S | 1 |
chr7:44161455-44161455 | p.E66D | 1 |
chr7:44155788-44155788 | p.M315I | 1 |
chr7:44156480-44156480 | p.S239F | 1 |
chr7:44157330-44157330 | p.L118L | 1 |
chr7:44161473-44161473 | p.Q60Q | 1 |
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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 |   | 2 |   |   | 1 |   | 1 |   |   | 5 | 1 | 3 |   |   | 3 | 2 |   | 6 |
# mutation | 3 | 3 |   | 2 |   |   | 1 |   | 1 |   |   | 5 | 1 | 3 |   |   | 3 | 2 |   | 7 |
nonsynonymous SNV | 3 | 1 |   | 1 |   |   | 1 |   | 1 |   |   | 2 | 1 | 3 |   |   | 2 | 1 |   | 5 |
synonymous SNV |   | 2 |   | 1 |   |   |   |   |   |   |   | 3 |   |   |   |   | 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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* 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 |
chr7:44156578 | p.G206G,POLD2 | 2 |
chr7:44156512 | p.A270V,POLD2 | 1 |
chr7:44157622 | p.C91W,POLD2 | 1 |
chr7:44155788 | p.L247L,POLD2 | 1 |
chr7:44156543 | p.E88K,POLD2 | 1 |
chr7:44161448 | p.L243L,POLD2 | 1 |
chr7:44155818 | p.A69S,POLD2 | 1 |
chr7:44156568 | p.V241A,POLD2 | 1 |
chr7:44161501 | p.A51G,POLD2 | 1 |
chr7:44155847 | p.L467M,POLD2 | 1 |
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* 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. |
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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 POLD2 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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 |
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BUD31,UQCC3,C14orf80,SNHG15,C7orf50,CCM2,CLPP, DDX56,EIF3B,MRPL4,MRPS24,NDUFA11,NDUFS6,NSUN5, NUDT1,POLD2,PPIA,PSMG3,NELFE,TBRG4,YKT6 | ALKBH7,DNPH1,CLPP,COX4I1,EIF3I,EXOSC5,GRHPR, IDH3G,MLST8,MRPL43,MRPL4,MRPS18A,MRPS2,NDUFA11, PHB2,PHB,POLD2,RPS16,TIMM13,TUFM,TXN2 | ||||
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AIMP2,BZW2,MALSU1,DDX56,EIF3B,FTSJ2,GGCT, HEATR2,LSM5,MRPS17,MRPS24,NUDT1,POLD2,PPIA, PSMG3,RANBP1,RPA3,SLC25A39,TBRG4,TIMM13,ZMYND19 | ASF1B,C16orf59,CDC45,CDC7,CHAF1B,FEN1,HAUS7, KIAA1524,MCM7,MTHFD1,PKMYT1,POLD2,RAD54L,RANBP1, RNASEH2A,RUVBL1,SNRPA,SSRP1,TCF19,TK1,TRAP1 |
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* 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 |
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Pharmacological Information for POLD2 |
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DB Category | DB Name | DB's ID and Url link |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB01050 | polymerase (DNA directed), delta 2, accessory subunit | approved | Ibuprofen | ![]() | ![]() |
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Cross referenced IDs for POLD2 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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