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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 POLR3A |
 Gene summary |
| Gene information | Gene symbol | POLR3A | Gene ID | 11128 |
| Gene name | RNA polymerase III subunit A | |
| Synonyms | ADDH|HLD7|RPC1|RPC155|hRPC155 | |
| Cytomap | 10q22.3 | |
| Type of gene | protein-coding | |
| Description | DNA-directed RNA polymerase III subunit RPC1DNA-directed RNA polymerase III largest subunitDNA-directed RNA polymerase III subunit ARNA polymerase III 155 kDa subunitRNA polymerase III subunit C1RNA polymerase III subunit C160RNA polymerase III subu | |
| Modification date | 20180523 | |
| UniProtAcc | O14802 | |
| Context | PubMed: POLR3A [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 POLR3A 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 POLR3A |
| 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 POLR3A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_51407 | 10 | 79741185:79741317:79741911:79742076:79742410:79742575 | 79741911:79742076 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51409 | 10 | 79742410:79742575:79743677:79743770:79743962:79744056 | 79743677:79743770 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51410 | 10 | 79744927:79745098:79745660:79745743:79745830:79745917 | 79745660:79745743 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51412 | 10 | 79750866:79750925:79752954:79753125:79759738:79759876 | 79752954:79753125 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51414 | 10 | 79760733:79760852:79761954:79762066:79764473:79764646 | 79761954:79762066 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51415 | 10 | 79767459:79767624:79769294:79769433:79769621:79769749 | 79769294:79769433 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51416 | 10 | 79767459:79767624:79769621:79769749:79770228:79770298 | 79769621:79769749 | ENSG00000148606.8 | ENST00000473588.2 |
| exon_skip_51418 | 10 | 79770228:79770298:79773407:79773548:79777332:79777474 | 79773407:79773548 | ENSG00000148606.8 | ENST00000473588.2,ENST00000372371.3 |
| exon_skip_51419 | 10 | 79778919:79779023:79781303:79781440:79781617:79781780 | 79781303:79781440 | ENSG00000148606.8 | ENST00000372371.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POLR3A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_51407 | 10 | 79741185:79741317:79741911:79742076:79742410:79742575 | 79741911:79742076 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51409 | 10 | 79742410:79742575:79743677:79743770:79743962:79744056 | 79743677:79743770 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51410 | 10 | 79744927:79745098:79745660:79745743:79745830:79745917 | 79745660:79745743 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51412 | 10 | 79750866:79750925:79752954:79753125:79759738:79759876 | 79752954:79753125 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51414 | 10 | 79760733:79760852:79761954:79762066:79764473:79764646 | 79761954:79762066 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51415 | 10 | 79767459:79767624:79769294:79769433:79769621:79769749 | 79769294:79769433 | ENSG00000148606.8 | ENST00000372371.3 |
| exon_skip_51416 | 10 | 79767459:79767624:79769621:79769749:79770228:79770298 | 79769621:79769749 | ENSG00000148606.8 | ENST00000473588.2 |
| exon_skip_51418 | 10 | 79770228:79770298:79773407:79773548:79777332:79777474 | 79773407:79773548 | ENSG00000148606.8 | ENST00000372371.3,ENST00000473588.2 |
| exon_skip_51419 | 10 | 79778919:79779023:79781303:79781440:79781617:79781780 | 79781303:79781440 | ENSG00000148606.8 | ENST00000372371.3 |
| 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 POLR3A |
| 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 |
| ENST00000372371 | 79745660 | 79745743 | Frame-shift |
| ENST00000372371 | 79761954 | 79762066 | Frame-shift |
| ENST00000372371 | 79769294 | 79769433 | Frame-shift |
| ENST00000372371 | 79781303 | 79781440 | Frame-shift |
| ENST00000372371 | 79741911 | 79742076 | In-frame |
| ENST00000372371 | 79743677 | 79743770 | In-frame |
| ENST00000372371 | 79752954 | 79753125 | In-frame |
| ENST00000372371 | 79773407 | 79773548 | 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 |
| ENST00000372371 | 79745660 | 79745743 | Frame-shift |
| ENST00000372371 | 79761954 | 79762066 | Frame-shift |
| ENST00000372371 | 79769294 | 79769433 | Frame-shift |
| ENST00000372371 | 79781303 | 79781440 | Frame-shift |
| ENST00000372371 | 79741911 | 79742076 | In-frame |
| ENST00000372371 | 79743677 | 79743770 | In-frame |
| ENST00000372371 | 79752954 | 79753125 | In-frame |
| ENST00000372371 | 79773407 | 79773548 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POLR3A |
| 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 |
| ENST00000372371 | 6657 | 1390 | 79773407 | 79773548 | 1570 | 1710 | 477 | 524 |
| ENST00000372371 | 6657 | 1390 | 79752954 | 79753125 | 2755 | 2925 | 872 | 929 |
| ENST00000372371 | 6657 | 1390 | 79743677 | 79743770 | 3475 | 3567 | 1112 | 1143 |
| ENST00000372371 | 6657 | 1390 | 79741911 | 79742076 | 3733 | 3897 | 1198 | 1253 |
| 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 |
| ENST00000372371 | 6657 | 1390 | 79773407 | 79773548 | 1570 | 1710 | 477 | 524 |
| ENST00000372371 | 6657 | 1390 | 79752954 | 79753125 | 2755 | 2925 | 872 | 929 |
| ENST00000372371 | 6657 | 1390 | 79743677 | 79743770 | 3475 | 3567 | 1112 | 1143 |
| ENST00000372371 | 6657 | 1390 | 79741911 | 79742076 | 3733 | 3897 | 1198 | 1253 |
| 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 |
| O14802 | 477 | 524 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 477 | 524 | 499 | 499 | Metal binding | Note=Magnesium%3B catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14802 | 477 | 524 | 501 | 501 | Metal binding | Note=Magnesium%3B catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14802 | 477 | 524 | 503 | 503 | Metal binding | Note=Magnesium%3B catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14802 | 872 | 929 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 872 | 929 | 897 | 897 | Natural variant | ID=VAR_067004;Note=In HLD7. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22036171;Dbxref=dbSNP:rs267608681,PMID:22036171 |
| O14802 | 1112 | 1143 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 1198 | 1253 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 1198 | 1253 | 1247 | 1247 | Natural variant | ID=VAR_066524;Note=In HLD7. T->TT;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21855841;Dbxref=PMID:21855841 |
| 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 |
| O14802 | 477 | 524 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 477 | 524 | 499 | 499 | Metal binding | Note=Magnesium%3B catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14802 | 477 | 524 | 501 | 501 | Metal binding | Note=Magnesium%3B catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14802 | 477 | 524 | 503 | 503 | Metal binding | Note=Magnesium%3B catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14802 | 872 | 929 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 872 | 929 | 897 | 897 | Natural variant | ID=VAR_067004;Note=In HLD7. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22036171;Dbxref=dbSNP:rs267608681,PMID:22036171 |
| O14802 | 1112 | 1143 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 1198 | 1253 | 1 | 1390 | Chain | ID=PRO_0000073947;Note=DNA-directed RNA polymerase III subunit RPC1 |
| O14802 | 1198 | 1253 | 1247 | 1247 | Natural variant | ID=VAR_066524;Note=In HLD7. T->TT;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21855841;Dbxref=PMID:21855841 |
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SNVs in the skipped exons for POLR3A |
| - 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 |
| LUAD | TCGA-55-8094-01 | exon_skip_51415 | 79769295 | 79769433 | 79769363 | 79769364 | Frame_Shift_Del | CT | - | p.R614fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_51416 | 79769622 | 79769749 | 79769657 | 79769657 | Frame_Shift_Del | T | - | p.I579fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_51419 | 79781304 | 79781440 | 79781322 | 79781322 | Frame_Shift_Del | A | - | p.I389fs |
| BLCA | TCGA-4Z-AA89-01 | exon_skip_51409 | 79743678 | 79743770 | 79743752 | 79743752 | Nonsense_Mutation | C | A | p.E1119* |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_51412 | 79752955 | 79753125 | 79753093 | 79753093 | Nonsense_Mutation | G | T | p.C883* |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_51412 | 79752955 | 79753125 | 79753093 | 79753093 | Nonsense_Mutation | G | T | p.C883X |
| COAD | TCGA-AA-3516-01 | exon_skip_51416 | 79769622 | 79769749 | 79769711 | 79769711 | Nonsense_Mutation | G | A | p.R561X |
| - 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 |
| PC9_LUNG | 79743678 | 79743770 | 79743754 | 79743757 | Frame_Shift_Del | TCAA | - | p.IE1117fs |
| PC14_LUNG | 79743678 | 79743770 | 79743754 | 79743757 | Frame_Shift_Del | TCAA | - | p.IE1117fs |
| ESO51_OESOPHAGUS | 79741912 | 79742076 | 79741953 | 79741953 | Missense_Mutation | C | T | p.G1240S |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 79741912 | 79742076 | 79741953 | 79741953 | Missense_Mutation | C | T | p.G1240S |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79741912 | 79742076 | 79741953 | 79741953 | Missense_Mutation | C | T | p.G1240S |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79741912 | 79742076 | 79742037 | 79742037 | Missense_Mutation | T | A | p.I1212F |
| TE441T_SOFT_TISSUE | 79745661 | 79745743 | 79745679 | 79745679 | Missense_Mutation | C | A | p.C1018F |
| HEC251_ENDOMETRIUM | 79752955 | 79753125 | 79752980 | 79752980 | Missense_Mutation | A | C | p.F921C |
| PEO1_OVARY | 79752955 | 79753125 | 79753011 | 79753011 | Missense_Mutation | C | G | p.A911P |
| SNU1040_LARGE_INTESTINE | 79769295 | 79769433 | 79769426 | 79769426 | Missense_Mutation | G | A | p.T593I |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79769622 | 79769749 | 79769697 | 79769697 | Missense_Mutation | G | C | p.C565W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79769622 | 79769749 | 79769698 | 79769698 | Missense_Mutation | C | T | p.C565Y |
| PC9_LUNG | 79769622 | 79769749 | 79769743 | 79769743 | Missense_Mutation | T | C | p.Y550C |
| PC14_LUNG | 79769622 | 79769749 | 79769743 | 79769743 | Missense_Mutation | T | C | p.Y550C |
| NCIH520_LUNG | 79773408 | 79773548 | 79773503 | 79773503 | Missense_Mutation | A | T | p.C493S |
| KMRC1_KIDNEY | 79781304 | 79781440 | 79781335 | 79781335 | Missense_Mutation | T | C | p.H385R |
| OC316_OVARY | 79781304 | 79781440 | 79781380 | 79781380 | Missense_Mutation | G | A | p.S370L |
| OC314_OVARY | 79781304 | 79781440 | 79781380 | 79781380 | Missense_Mutation | G | A | p.S370L |
| MET2B | 79781304 | 79781440 | 79781419 | 79781419 | Missense_Mutation | G | A | p.S357L |
| KMH2_THYROID | 79781304 | 79781440 | 79781432 | 79781432 | Missense_Mutation | T | C | p.R353G |
| TOV21G_OVARY | 79741912 | 79742076 | 79741914 | 79741914 | Nonsense_Mutation | C | A | p.E1253* |
| SNU175_LARGE_INTESTINE | 79769295 | 79769433 | 79769352 | 79769352 | Nonsense_Mutation | G | A | p.R618* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POLR3A |
| 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 POLR3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLR3A |
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RelatedDrugs for POLR3A |
| 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 POLR3A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| POLR3A | C2676243 | Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | 4 | ORPHANET;UNIPROT |
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