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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 POLQ |
 Gene summary |
| Gene information | Gene symbol | POLQ | Gene ID | 10721 |
| Gene name | DNA polymerase theta | |
| Synonyms | PRO0327 | |
| Cytomap | 3q13.33 | |
| Type of gene | protein-coding | |
| Description | DNA polymerase thetapolymerase (DNA directed), thetapolymerase (DNA) theta | |
| Modification date | 20180523 | |
| UniProtAcc | O75417 | |
| Context | PubMed: POLQ [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 |
| POLQ | GO:0006284 | base-excision repair | 19188258 |
| POLQ | GO:0006302 | double-strand break repair | 22135286 |
| POLQ | GO:0006974 | cellular response to DNA damage stimulus | 25642963|25643323 |
| POLQ | GO:0051260 | protein homooligomerization | 25643323 |
| POLQ | GO:0097681 | double-strand break repair via alternative nonhomologous end joining | 25643323 |
| POLQ | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 25642963 |
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Exon skipping events across known transcript of Ensembl for POLQ 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 POLQ |
| 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 POLQ |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386924 | 3 | 121151764:121151880:121154968:121155122:121158838:121158963 | 121154968:121155122 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386928 | 3 | 121158930:121158963:121168161:121168273:121178896:121179081 | 121168161:121168273 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386929 | 3 | 121158930:121158963:121168161:121168273:121186365:121186487 | 121168161:121168273 | ENSG00000051341.9 | ENST00000474243.1 |
| exon_skip_386931 | 3 | 121168161:121168273:121178896:121179081:121186365:121186487 | 121178896:121179081 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386934 | 3 | 121187151:121187278:121190836:121191011:121192196:121192334 | 121190836:121191011 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386939 | 3 | 121187151:121187278:121195386:121195580:121200418:121200443 | 121195386:121195580 | ENSG00000051341.9 | ENST00000474243.1 |
| exon_skip_386940 | 3 | 121190836:121191011:121192196:121192334:121195386:121195580 | 121192196:121192334 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386944 | 3 | 121200418:121200659:121202232:121202429:121203887:121204031 | 121202232:121202429 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386948 | 3 | 121212324:121212568:121215654:121215779:121217323:121217517 | 121215654:121215779 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386950 | 3 | 121240849:121240996:121248491:121248639:121251836:121252056 | 121248491:121248639 | ENSG00000051341.9 | ENST00000264233.5,ENST00000488282.1 |
| exon_skip_386951 | 3 | 121258279:121258436:121260195:121260326:121263573:121263753 | 121260195:121260326 | ENSG00000051341.9 | ENST00000264233.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POLQ |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386924 | 3 | 121151764:121151880:121154968:121155122:121158838:121158963 | 121154968:121155122 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386929 | 3 | 121158930:121158963:121168161:121168273:121186365:121186487 | 121168161:121168273 | ENSG00000051341.9 | ENST00000474243.1 |
| exon_skip_386931 | 3 | 121168161:121168273:121178896:121179081:121186365:121186487 | 121178896:121179081 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386939 | 3 | 121187151:121187278:121195386:121195580:121200418:121200443 | 121195386:121195580 | ENSG00000051341.9 | ENST00000474243.1 |
| exon_skip_386940 | 3 | 121190836:121191011:121192196:121192334:121195386:121195580 | 121192196:121192334 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386944 | 3 | 121200418:121200659:121202232:121202429:121203887:121204031 | 121202232:121202429 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386948 | 3 | 121212324:121212568:121215654:121215779:121217323:121217517 | 121215654:121215779 | ENSG00000051341.9 | ENST00000264233.5 |
| exon_skip_386950 | 3 | 121240849:121240996:121248491:121248639:121251836:121252056 | 121248491:121248639 | ENSG00000051341.9 | ENST00000264233.5,ENST00000488282.1 |
| exon_skip_386951 | 3 | 121258279:121258436:121260195:121260326:121263573:121263753 | 121260195:121260326 | ENSG00000051341.9 | ENST00000264233.5 |
| 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 POLQ |
| 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 |
| ENST00000264233 | 121154968 | 121155122 | Frame-shift |
| ENST00000264233 | 121168161 | 121168273 | Frame-shift |
| ENST00000264233 | 121178896 | 121179081 | Frame-shift |
| ENST00000264233 | 121190836 | 121191011 | Frame-shift |
| ENST00000264233 | 121202232 | 121202429 | Frame-shift |
| ENST00000264233 | 121215654 | 121215779 | Frame-shift |
| ENST00000264233 | 121248491 | 121248639 | Frame-shift |
| ENST00000264233 | 121260195 | 121260326 | Frame-shift |
| ENST00000264233 | 121192196 | 121192334 | 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 |
| ENST00000264233 | 121154968 | 121155122 | Frame-shift |
| ENST00000264233 | 121178896 | 121179081 | Frame-shift |
| ENST00000264233 | 121202232 | 121202429 | Frame-shift |
| ENST00000264233 | 121215654 | 121215779 | Frame-shift |
| ENST00000264233 | 121248491 | 121248639 | Frame-shift |
| ENST00000264233 | 121260195 | 121260326 | Frame-shift |
| ENST00000264233 | 121192196 | 121192334 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POLQ |
| 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 |
| ENST00000264233 | 8792 | 2590 | 121192196 | 121192334 | 6535 | 6672 | 2135 | 2181 |
| 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 |
| ENST00000264233 | 8792 | 2590 | 121192196 | 121192334 | 6535 | 6672 | 2135 | 2181 |
| 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 |
| O75417 | 2135 | 2181 | 1 | 2590 | Chain | ID=PRO_0000101279;Note=DNA polymerase theta |
| O75417 | 2135 | 2181 | 2142 | 2177 | Region | Note=Loop 1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21050863;Dbxref=PMID:21050863 |
| 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 |
| O75417 | 2135 | 2181 | 1 | 2590 | Chain | ID=PRO_0000101279;Note=DNA polymerase theta |
| O75417 | 2135 | 2181 | 2142 | 2177 | Region | Note=Loop 1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21050863;Dbxref=PMID:21050863 |
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SNVs in the skipped exons for POLQ |
| - 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-A39Y-01 | exon_skip_386924 | 121154969 | 121155122 | 121154972 | 121154972 | Frame_Shift_Del | T | - | p.T2514fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_386929 exon_skip_386928 | 121168162 | 121168273 | 121168175 | 121168175 | Frame_Shift_Del | T | - | p.K2417fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386931 | 121178897 | 121179081 | 121178973 | 121178973 | Frame_Shift_Del | A | - | p.F2359fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_386934 | 121190837 | 121191011 | 121190886 | 121190886 | Frame_Shift_Del | A | - | p.F2223fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_386940 | 121192197 | 121192334 | 121192271 | 121192271 | Frame_Shift_Del | T | - | p.T2157fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386940 | 121192197 | 121192334 | 121192306 | 121192306 | Frame_Shift_Del | G | - | p.P2145fs |
| STAD | TCGA-BR-6452-01 | exon_skip_386940 | 121192197 | 121192334 | 121192306 | 121192306 | Frame_Shift_Del | G | - | p.P2145fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_386939 | 121195387 | 121195580 | 121195412 | 121195412 | Frame_Shift_Del | A | - | p.F2127fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_386939 | 121195387 | 121195580 | 121195416 | 121195416 | Frame_Shift_Del | A | - | p.S2126fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_386939 | 121195387 | 121195580 | 121195416 | 121195416 | Frame_Shift_Del | A | - | p.S2126fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386944 | 121202233 | 121202429 | 121202381 | 121202381 | Frame_Shift_Del | A | - | p.L1941fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_386944 | 121202233 | 121202429 | 121202381 | 121202381 | Frame_Shift_Del | A | - | p.L1941fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_386944 | 121202233 | 121202429 | 121202381 | 121202381 | Frame_Shift_Del | A | - | p.L1941fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386950 | 121248492 | 121248639 | 121248570 | 121248570 | Frame_Shift_Del | A | - | p.C344fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_386951 | 121260196 | 121260326 | 121260297 | 121260297 | Frame_Shift_Del | C | - | p.A125fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_386944 | 121202233 | 121202429 | 121202409 | 121202410 | Frame_Shift_Ins | - | A | p.T1932fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_386944 | 121202233 | 121202429 | 121202413 | 121202414 | Frame_Shift_Ins | - | A | p.C1930fs |
| CESC | TCGA-Q1-A73P-01 | exon_skip_386934 | 121190837 | 121191011 | 121190912 | 121190912 | Nonsense_Mutation | G | A | p.Q2215* |
| BLCA | TCGA-E7-A7XN-01 | exon_skip_386948 | 121215655 | 121215779 | 121215688 | 121215688 | Nonsense_Mutation | G | A | p.Q749* |
| SKCM | TCGA-WE-A8K5-06 | exon_skip_386948 | 121215655 | 121215779 | 121215718 | 121215718 | Nonsense_Mutation | G | A | p.Q739* |
| STAD | TCGA-BR-4257-01 | exon_skip_386950 | 121248492 | 121248639 | 121248525 | 121248525 | Nonsense_Mutation | G | A | p.R359* |
| STAD | TCGA-BR-4257-01 | exon_skip_386950 | 121248492 | 121248639 | 121248525 | 121248525 | Nonsense_Mutation | G | A | p.R359X |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_386950 | 121248492 | 121248639 | 121248606 | 121248606 | Nonsense_Mutation | C | A | p.E332* |
| UCS | TCGA-N8-A4PI-01 | exon_skip_386951 | 121260196 | 121260326 | 121260219 | 121260219 | Nonsense_Mutation | T | A | p.K151* |
| UCS | TCGA-N8-A4PI-01 | exon_skip_386951 | 121260196 | 121260326 | 121260219 | 121260219 | Nonsense_Mutation | T | A | p.K151X |
| SARC | TCGA-X6-A8C4-01 | exon_skip_386944 | 121202233 | 121202429 | 121202431 | 121202431 | Splice_Site | T | - | e18-2 |
| STAD | TCGA-B7-5816-01 | exon_skip_386950 | 121248492 | 121248639 | 121248490 | 121248490 | Splice_Site | A | G | . |
| STAD | TCGA-B7-5816-01 | exon_skip_386950 | 121248492 | 121248639 | 121248490 | 121248490 | Splice_Site | A | G | p.G370_splice |
| - 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 |
| SNU503_LARGE_INTESTINE | 121154969 | 121155122 | 121155002 | 121155002 | Missense_Mutation | G | A | p.H2504Y |
| HCT15_LARGE_INTESTINE | 121154969 | 121155122 | 121155034 | 121155034 | Missense_Mutation | T | C | p.E2493G |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 121168162 | 121168273 | 121168164 | 121168164 | Missense_Mutation | G | C | p.T2421R |
| HCT15_LARGE_INTESTINE | 121168162 | 121168273 | 121168251 | 121168251 | Missense_Mutation | C | T | p.G2392E |
| NCIH2804_PLEURA | 121190837 | 121191011 | 121190861 | 121190861 | Missense_Mutation | C | T | p.V2232I |
| PK45H_PANCREAS | 121190837 | 121191011 | 121190882 | 121190882 | Missense_Mutation | C | T | p.G2225R |
| GP2D_LARGE_INTESTINE | 121192197 | 121192334 | 121192294 | 121192294 | Missense_Mutation | A | G | p.M2149T |
| GP5D_LARGE_INTESTINE | 121192197 | 121192334 | 121192294 | 121192294 | Missense_Mutation | A | G | p.M2149T |
| NCIH1650_LUNG | 121195387 | 121195580 | 121195392 | 121195392 | Missense_Mutation | C | T | p.A2134T |
| SNU1040_LARGE_INTESTINE | 121195387 | 121195580 | 121195392 | 121195392 | Missense_Mutation | C | T | p.A2134T |
| HCC1438_LUNG | 121195387 | 121195580 | 121195475 | 121195475 | Missense_Mutation | A | G | p.M2106T |
| NCIH661_LUNG | 121195387 | 121195580 | 121195494 | 121195494 | Missense_Mutation | C | G | p.E2100Q |
| KM12_LARGE_INTESTINE | 121195387 | 121195580 | 121195559 | 121195559 | Missense_Mutation | A | T | p.M2078K |
| UMUC5_URINARY_TRACT | 121195387 | 121195580 | 121195563 | 121195563 | Missense_Mutation | C | G | p.E2077Q |
| JHUEM7_ENDOMETRIUM | 121202233 | 121202429 | 121202288 | 121202288 | Missense_Mutation | T | G | p.K1972T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121202233 | 121202429 | 121202331 | 121202331 | Missense_Mutation | T | C | p.K1958E |
| SKNMC_BONE | 121202233 | 121202429 | 121202397 | 121202397 | Missense_Mutation | C | A | p.D1936Y |
| MCIXC_AUTONOMIC_GANGLIA | 121202233 | 121202429 | 121202397 | 121202397 | Missense_Mutation | C | A | p.D1936Y |
| NCIH1694_LUNG | 121202233 | 121202429 | 121202427 | 121202427 | Missense_Mutation | T | C | p.I1926V |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121215655 | 121215779 | 121215699 | 121215699 | Missense_Mutation | C | T | p.R745H |
| RH30_SOFT_TISSUE | 121215655 | 121215779 | 121215754 | 121215754 | Missense_Mutation | C | A | p.D727Y |
| SJRH30_SOFT_TISSUE | 121215655 | 121215779 | 121215754 | 121215754 | Missense_Mutation | C | A | p.D727Y |
| HOP62_LUNG | 121248492 | 121248639 | 121248549 | 121248549 | Missense_Mutation | C | T | p.E351K |
| SF172_CENTRAL_NERVOUS_SYSTEM | 121248492 | 121248639 | 121248566 | 121248566 | Missense_Mutation | G | A | p.P345L |
| HEC251_ENDOMETRIUM | 121248492 | 121248639 | 121248587 | 121248587 | Missense_Mutation | T | C | p.H338R |
| RERFLCAD2_LUNG | 121248492 | 121248639 | 121248613 | 121248613 | Missense_Mutation | T | G | p.L329F |
| VMRCLCD_LUNG | 121260196 | 121260326 | 121260257 | 121260257 | Missense_Mutation | T | G | p.K138T |
| HCET_UPPER_AERODIGESTIVE_TRACT | 121260196 | 121260326 | 121260276 | 121260276 | Missense_Mutation | G | A | p.R132W |
| DU145_PROSTATE | 121260196 | 121260326 | 121260300 | 121260300 | Missense_Mutation | C | T | p.V124M |
| IPC298_SKIN | 121154969 | 121155122 | 121155092 | 121155092 | Nonsense_Mutation | G | A | p.Q2474* |
| KPNSI9S_AUTONOMIC_GANGLIA | 121202233 | 121202429 | 121202233 | 121202233 | Splice_Site | C | T | p.K1990K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POLQ |
| 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 |
| exon_skip_386924 | 3 | 121151764:121151880:121154968:121155122:121158838:121158963 | 121154968:121155122 | ENST00000264233.5 | ESCA | rs1381057 | chr3:121154974 | A/G | 1.18e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLQ |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLQ |
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RelatedDrugs for POLQ |
| 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 POLQ |
| 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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