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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for POLR3F |
 Gene summary |
| Gene information | Gene symbol | POLR3F | Gene ID | 10621 |
| Gene name | RNA polymerase III subunit F | |
| Synonyms | RPC39|RPC6 | |
| Cytomap | 20p11.23 | |
| Type of gene | protein-coding | |
| Description | DNA-directed RNA polymerase III subunit RPC6RNA polymerase III C39 subunitRNA polymerase III subunit C6polymerase (RNA) III (DNA directed) polypeptide F, 39 kDapolymerase (RNA) III subunit F | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H1D9 | |
| Context | PubMed: POLR3F [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for POLR3F from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for POLR3F |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for POLR3F |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349393 | 20 | 18448091:18448212:18449587:18449705:18453485:18453553 | 18449587:18449705 | ENSG00000132664.7 | ENST00000475192.1 |
| exon_skip_349397 | 20 | 18454034:18454102:18455718:18455831:18460681:18460825 | 18455718:18455831 | ENSG00000132664.7 | ENST00000377603.4,ENST00000489753.1,ENST00000462997.1 |
| exon_skip_349398 | 20 | 18455718:18455831:18460681:18460825:18461045:18461153 | 18460681:18460825 | ENSG00000132664.7 | ENST00000377603.4,ENST00000489753.1,ENST00000462997.1 |
| exon_skip_349402 | 20 | 18461045:18461153:18462262:18462454:18464124:18464207 | 18462262:18462454 | ENSG00000132664.7 | ENST00000377603.4,ENST00000462997.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POLR3F |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349393 | 20 | 18448091:18448212:18449587:18449705:18453485:18453553 | 18449587:18449705 | ENSG00000132664.7 | ENST00000475192.1 |
| exon_skip_349397 | 20 | 18454034:18454102:18455718:18455831:18460681:18460825 | 18455718:18455831 | ENSG00000132664.7 | ENST00000377603.4,ENST00000462997.1,ENST00000489753.1 |
| exon_skip_349398 | 20 | 18455718:18455831:18460681:18460825:18461045:18461153 | 18460681:18460825 | ENSG00000132664.7 | ENST00000377603.4,ENST00000462997.1,ENST00000489753.1 |
| exon_skip_349402 | 20 | 18461045:18461153:18462262:18462454:18464124:18464207 | 18462262:18462454 | ENSG00000132664.7 | ENST00000377603.4,ENST00000462997.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for POLR3F |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000377603 | 18455718 | 18455831 | Frame-shift |
| ENST00000377603 | 18460681 | 18460825 | In-frame |
| ENST00000377603 | 18462262 | 18462454 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000377603 | 18455718 | 18455831 | Frame-shift |
| ENST00000377603 | 18460681 | 18460825 | In-frame |
| ENST00000377603 | 18462262 | 18462454 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POLR3F |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000377603 | 2433 | 316 | 18460681 | 18460825 | 810 | 953 | 143 | 191 |
| ENST00000377603 | 2433 | 316 | 18462262 | 18462454 | 1062 | 1253 | 227 | 291 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000377603 | 2433 | 316 | 18460681 | 18460825 | 810 | 953 | 143 | 191 |
| ENST00000377603 | 2433 | 316 | 18462262 | 18462454 | 1062 | 1253 | 227 | 291 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9H1D9 | 143 | 191 | 149 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DK5 |
| Q9H1D9 | 143 | 191 | 2 | 316 | Chain | ID=PRO_0000073972;Note=DNA-directed RNA polymerase III subunit RPC6 |
| Q9H1D9 | 143 | 191 | 173 | 175 | Mutagenesis | Note=Strongly impaired dsDNA-binding. No effect on interaction with POLR3C. ESE->KSK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21358628;Dbxref=PMID:21358628 |
| Q9H1D9 | 227 | 291 | 2 | 316 | Chain | ID=PRO_0000073972;Note=DNA-directed RNA polymerase III subunit RPC6 |
| Q9H1D9 | 227 | 291 | 255 | 290 | Sequence conflict | Note=AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC->CKRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9H1D9 | 143 | 191 | 149 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DK5 |
| Q9H1D9 | 143 | 191 | 2 | 316 | Chain | ID=PRO_0000073972;Note=DNA-directed RNA polymerase III subunit RPC6 |
| Q9H1D9 | 143 | 191 | 173 | 175 | Mutagenesis | Note=Strongly impaired dsDNA-binding. No effect on interaction with POLR3C. ESE->KSK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21358628;Dbxref=PMID:21358628 |
| Q9H1D9 | 227 | 291 | 2 | 316 | Chain | ID=PRO_0000073972;Note=DNA-directed RNA polymerase III subunit RPC6 |
| Q9H1D9 | 227 | 291 | 255 | 290 | Sequence conflict | Note=AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC->CKRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for POLR3F |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_349398 | 18460682 | 18460825 | 18460687 | 18460687 | Frame_Shift_Del | A | - | p.S145fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_349398 | 18460682 | 18460825 | 18460765 | 18460765 | Frame_Shift_Del | T | - | p.D171fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_349398 | 18460682 | 18460825 | 18460813 | 18460813 | Frame_Shift_Del | C | - | p.F187fs |
| BRCA | TCGA-B6-A0IB-01 | exon_skip_349402 | 18462263 | 18462454 | 18462391 | 18462391 | Frame_Shift_Del | C | - | p.Y270fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_349397 | 18455719 | 18455831 | 18455798 | 18455799 | Frame_Shift_Ins | - | A | p.RK132fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_349397 | 18455719 | 18455831 | 18455766 | 18455766 | Nonsense_Mutation | G | T | p.E122* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC1_ENDOMETRIUM | 18449588 | 18449705 | 18449692 | 18449692 | Missense_Mutation | G | T | p.R56M |
| SNU81_LARGE_INTESTINE | 18460682 | 18460825 | 18460808 | 18460808 | Missense_Mutation | A | G | p.K186E |
| SNU1040_LARGE_INTESTINE | 18462263 | 18462454 | 18462414 | 18462414 | Missense_Mutation | C | T | p.P278L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 18449588 | 18449705 | 18449588 | 18449588 | Splice_Site | G | A | p.R21R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POLR3F |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLR3F |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLR3F |
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RelatedDrugs for POLR3F |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for POLR3F |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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