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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for POLR2I |
Basic gene info. | Gene symbol | POLR2I |
Gene name | polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa | |
Synonyms | RPB9|hRPB14.5 | |
Cytomap | UCSC genome browser: 19q12 | |
Genomic location | chr19 :36604610-36606206 | |
Type of gene | protein-coding | |
RefGenes | NM_006233.4, | |
Ensembl id | ENSG00000105258 | |
Description | DNA-directed RNA polymerase II 14.5 kDa polypeptideDNA-directed RNA polymerase II subunit IDNA-directed RNA polymerase II subunit RPB9RNA polymerase II 14.5 kDa subunitRNA polymerase II subunit B9RPB14.5 | |
Modification date | 20141207 | |
dbXrefs | MIM : 180662 | |
HGNC : HGNC | ||
Ensembl : ENSG00000105258 | ||
HPRD : 15944 | ||
Vega : OTTHUMG00000181749 | ||
Protein | UniProt: P36954 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_POLR2I | |
BioGPS: 5438 | ||
Gene Expression Atlas: ENSG00000105258 | ||
The Human Protein Atlas: ENSG00000105258 | ||
Pathway | NCI Pathway Interaction Database: POLR2I | |
KEGG: POLR2I | ||
REACTOME: POLR2I | ||
ConsensusPathDB | ||
Pathway Commons: POLR2I | ||
Metabolism | MetaCyc: POLR2I | |
HUMANCyc: POLR2I | ||
Regulation | Ensembl's Regulation: ENSG00000105258 | |
miRBase: chr19 :36,604,610-36,606,206 | ||
TargetScan: NM_006233 | ||
cisRED: ENSG00000105258 | ||
Context | iHOP: POLR2I | |
cancer metabolism search in PubMed: POLR2I | ||
UCL Cancer Institute: POLR2I | ||
Assigned class in ccmGDB | B - This gene belongs to cancer gene. |
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Phenotypic Information for POLR2I(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: POLR2I |
Familial Cancer Database: POLR2I |
* 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 | 180662; gene. |
Orphanet | |
Disease | KEGG Disease: POLR2I |
MedGen: POLR2I (Human Medical Genetics with Condition) | |
ClinVar: POLR2I | |
Phenotype | MGI: POLR2I (International Mouse Phenotyping Consortium) |
PhenomicDB: POLR2I |
Mutations for POLR2I |
* 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 POLR2I 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 |
DA230064 | POLR2I | 1 | 266 | 19 | 36605858 | 36606123 | LAMP2 | 262 | 547 | X | 119589342 | 119603043 | |
AA165636 | POLR2I | 3 | 145 | 19 | 36604616 | 36604957 | DBI | 142 | 532 | 2 | 120124574 | 120129966 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=9) | (# total SNVs=5) |
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(# total SNVs=0) | (# 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 |
chr19:36605572-36605572 | p.L35V | 2 |
chr19:36605602-36605602 | p.Y25H | 2 |
chr19:36605261-36605261 | p.N56K | 2 |
chr19:36604659-36604659 | p.*126R | 1 |
chr19:36605582-36605582 | p.E31E | 1 |
chr19:36604687-36604687 | p.A116A | 1 |
chr19:36604927-36604927 | p.A102V | 1 |
chr19:36605708-36605708 | p.C17C | 1 |
chr19:36604944-36604944 | p.F96F | 1 |
chr19:36605736-36605736 | p.E8V | 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 | 1 | 1 |   | 1 |   |   |   |   | 1 |   |   |   |   |   |   |   | 2 |   |   | 1 |
# mutation | 1 | 1 |   | 1 |   |   |   |   | 1 |   |   |   |   |   |   |   | 2 |   |   | 1 |
nonsynonymous SNV | 1 |   |   | 1 |   |   |   |   | 1 |   |   |   |   |   |   |   | 1 |   |   |   |
synonymous SNV |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   | 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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* 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 |
chr19:36604687 | p.A116A | 1 |
chr19:36604927 | p.A102V | 1 |
chr19:36604965 | p.C89C | 1 |
chr19:36605705 | p.Q18H | 1 |
chr19:36605708 | p.C17C | 1 |
chr19:36605736 | p.E8V | 1 |
chr19:36605737 | p.E8Q | 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 POLR2I |
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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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C19orf43,LAMTOR4,CAPNS1,CCDC12,COX6B1,ETV2,GADD45GIP1, LIN37,LSM7,NDUFA11,NDUFA13,NDUFB11,NDUFB7,POLR2I, RBM42,RFXANK,RPS16,SDHAF1,SNRPD2,TBCB,TMEM147 | ALKBH7,RPP25L,CHCHD2,COX4I1,ECI1,DCTN3,ECSIT, EIF3K,IDH3G,MRPL11,MRPL43,MRPL51,MRPS18A,NDUFA11, NDUFA13,NDUFB7,NOSIP,POLR2I,TXN2,UBE2M,ZNF511 |
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ANAPC11,CLPP,COX6B1,EXOSC5,GADD45GIP1,GEMIN7,LSM7, MRPS12,NDUFA11,NDUFA13,POLR2I,PRMT1,RPL18,RPS16, RUVBL2,SDHAF1,SNRPD2,TBCB,TIMM50,TMEM147,TRAPPC5 | ANAPC11,ARL6IP4,BABAM1,FAU,FIS1,MRPL57,MRPL43, MRPS24,LINC00116,NDUFA11,NDUFA13,NDUFB7,NUBP2,POLR2F, POLR2I,PQBP1,PRDX2,RPP21,RPS16,THAP7,TIMM17B |
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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 POLR2I |
There's no related Drug. |
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Cross referenced IDs for POLR2I |
* 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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