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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for POLR3H |
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Phenotypic Information for POLR3H(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: POLR3H |
Familial Cancer Database: POLR3H |
* 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/ |
Metabolic Pathway Description | |
KEGG_PURINE_METABOLISM KEGG_PYRIMIDINE_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: POLR3H |
MedGen: POLR3H (Human Medical Genetics with Condition) | |
ClinVar: POLR3H | |
Phenotype | MGI: POLR3H (International Mouse Phenotyping Consortium) |
PhenomicDB: POLR3H |
Mutations for POLR3H |
* 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 POLR3H 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 |
Other DBs for Structural Variants |
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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 |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=7) | (# total SNVs=4) |
(# total SNVs=1) | (# total SNVs=0) |
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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 |
chr22:41936719-41936719 | p.G64G | 2 |
chr22:41925341-41925341 | p.? | 1 |
chr22:41936800-41936800 | p.? | 1 |
chr22:41926706-41926706 | p.A153A | 1 |
chr22:41940028-41940028 | p.I26I | 1 |
chr22:41926740-41926740 | p.T142I | 1 |
chr22:41940058-41940058 | p.W16* | 1 |
chr22:41926752-41926752 | p.S138L | 1 |
chr22:41940092-41940092 | p.V5G | 1 |
chr22:41926774-41926774 | p.T131A | 1 |
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SNV Counts per Each Loci in TCGA data |
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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 |   |   |   | 2 |   |   | 1 |   |   |   |   | 3 | 4 |   |   |   | 1 |   |   | 2 |
# mutation |   |   |   | 2 |   |   | 1 |   |   |   |   | 3 | 4 |   |   |   | 1 |   |   | 2 |
nonsynonymous SNV |   |   |   | 1 |   |   |   |   |   |   |   | 1 | 2 |   |   |   | 1 |   |   | 2 |
synonymous SNV |   |   |   | 1 |   |   | 1 |   |   |   |   | 2 | 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 |
chr22:41936719 | p.G64G,POLR3H | 2 |
chr22:41926706 | p.A153A,POLR3H | 1 |
chr22:41936785 | p.S138L,POLR3H | 1 |
chr22:41926752 | p.D125Y,POLR3H | 1 |
chr22:41926792 | p.Y102Y,POLR3H | 1 |
chr22:41926859 | p.V97L,POLR3H | 1 |
chr22:41928669 | p.E83G,POLR3H | 1 |
chr22:41928710 | p.D82Y,POLR3H | 1 |
chr22:41928714 | p.L81L,POLR3H | 1 |
chr22:41928717 | p.V75A,POLR3H | 1 |
Other DBs for Point Mutations |
Copy Number for POLR3H 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 POLR3H |
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. |
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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 |
ANKRD54,SMDT1,CDPF1,CBY1,DNAL4,GGA1,L3MBTL2, MCAT,NHP2L1,NOL12,PES1,PICK1,PMM1,POLR3H, PRR5,RANGAP1,RPS19BP1,TAB1,TRMU,TXN2,XRCC6 | AAMP,TEN1,CHCHD6,DDX54,DGCR2,FARSA,GRWD1, GTF2F1,HPS6,PES1,POLR3H,PRKCSH,PRPF31,PUF60, RING1,RRP1,RUVBL2,TBL3,TRIP6,U2AF2,XAB2 |
ATAD3A,EFTUD2,EWSR1,HIRA,L3MBTL2,MCAT,NHP2L1, PES1,PISD,POLR3H,PRR5,RANBP1,RANGAP1,SDF2L1, SELO,SNRPD3,SRM,TAB1,TMEM201,TRMU,ZC3H7B | ABLIM3,ARHGAP23,C17orf51,COL8A1,DDX19A,FAM65A,GALNT18, GAS7,JMJD8,KLC2,KLHL29,LEPRE1,NCDN,OGFOD1, PDGFB,PLEKHA4,POLR3H,SACS,SLC41A1,TMEM109,TSR1 |
Co-Expressed gene's Protein-protein interaction 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 |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for POLR3H |
There's no related Drug. |
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Cross referenced IDs for POLR3H |
* 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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