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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 EPRS |
 Gene summary |
| Gene information | Gene symbol | EPRS | Gene ID | 2058 |
| Gene name | glutamyl-prolyl-tRNA synthetase | |
| Synonyms | EARS|GLUPRORS|HLD15|PARS|PIG32|QARS|QPRS | |
| Cytomap | 1q41 | |
| Type of gene | protein-coding | |
| Description | bifunctional glutamate/proline--tRNA ligasebifunctional aminoacyl-tRNA synthetasecell proliferation-inducing gene 32 proteinglutamate tRNA ligaseglutamatyl-prolyl-tRNA synthetaseglutaminyl-tRNA synthetaseproliferation-inducing gene 32 proteinprolif | |
| Modification date | 20180523 | |
| UniProtAcc | P07814 | |
| Context | PubMed: EPRS [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 |
| EPRS | GO:0006433 | prolyl-tRNA aminoacylation | 24100331 |
| EPRS | GO:0017148 | negative regulation of translation | 23071094 |
| EPRS | GO:0071346 | cellular response to interferon-gamma | 15479637 |
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Exon skipping events across known transcript of Ensembl for EPRS 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 EPRS |
| 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 EPRS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_37052 | 1 | 220142399:220142464:220145410:220145489:220146579:220146740 | 220145410:220145489 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37053 | 1 | 220146579:220146740:220151887:220152061:220152759:220152957 | 220151887:220152061 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37055 | 1 | 220154719:220154799:220156113:220156186:220156530:220156740 | 220156113:220156186 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37056 | 1 | 220161931:220162165:220170324:220170684:220174479:220174597 | 220170324:220170684 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37058 | 1 | 220170517:220170684:220174479:220174597:220178589:220178702 | 220174479:220174597 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1,ENST00000464052.1 |
| exon_skip_37059 | 1 | 220184287:220184398:220191467:220191488:220191790:220191850 | 220191467:220191488 | ENSG00000136628.13 | ENST00000609181.1 |
| exon_skip_37060 | 1 | 220184287:220184398:220191790:220191850:220192336:220192421 | 220191790:220191850 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37061 | 1 | 220192336:220192421:220193329:220193563:220195688:220195860 | 220193329:220193563 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37063 | 1 | 220197605:220197798:220198473:220198600:220203727:220203822 | 220198473:220198600 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37064 | 1 | 220198473:220198600:220203727:220203822:220205728:220205868 | 220203727:220203822 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37066 | 1 | 220205728:220205868:220206843:220207000:220208255:220208355 | 220206843:220207000 | ENSG00000136628.13 | ENST00000477030.2,ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37067 | 1 | 220208255:220208355:220213526:220213611:220219684:220219793 | 220213526:220213611 | ENSG00000136628.13 | ENST00000477030.2,ENST00000609181.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPRS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_37052 | 1 | 220142399:220142464:220145410:220145489:220146579:220146740 | 220145410:220145489 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37053 | 1 | 220146579:220146740:220151887:220152061:220152759:220152957 | 220151887:220152061 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37055 | 1 | 220154719:220154799:220156113:220156186:220156530:220156740 | 220156113:220156186 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37056 | 1 | 220161931:220162165:220170324:220170684:220174479:220174597 | 220170324:220170684 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37058 | 1 | 220170517:220170684:220174479:220174597:220178589:220178702 | 220174479:220174597 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1,ENST00000464052.1 |
| exon_skip_37059 | 1 | 220184287:220184398:220191467:220191488:220191790:220191850 | 220191467:220191488 | ENSG00000136628.13 | ENST00000609181.1 |
| exon_skip_37060 | 1 | 220184287:220184398:220191790:220191850:220192336:220192421 | 220191790:220191850 | ENSG00000136628.13 | ENST00000366923.3 |
| exon_skip_37061 | 1 | 220192336:220192421:220193329:220193563:220195688:220195860 | 220193329:220193563 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37063 | 1 | 220197605:220197798:220198473:220198600:220203727:220203822 | 220198473:220198600 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37064 | 1 | 220198473:220198600:220203727:220203822:220205728:220205868 | 220203727:220203822 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1 |
| exon_skip_37066 | 1 | 220205728:220205868:220206843:220207000:220208255:220208355 | 220206843:220207000 | ENSG00000136628.13 | ENST00000366923.3,ENST00000609181.1,ENST00000477030.2 |
| exon_skip_37067 | 1 | 220208255:220208355:220213526:220213611:220219684:220219793 | 220213526:220213611 | ENSG00000136628.13 | ENST00000609181.1,ENST00000477030.2 |
| 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 EPRS |
| 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 |
| ENST00000366923 | 220145410 | 220145489 | Frame-shift |
| ENST00000366923 | 220156113 | 220156186 | Frame-shift |
| ENST00000366923 | 220174479 | 220174597 | Frame-shift |
| ENST00000366923 | 220198473 | 220198600 | Frame-shift |
| ENST00000366923 | 220203727 | 220203822 | Frame-shift |
| ENST00000366923 | 220206843 | 220207000 | Frame-shift |
| ENST00000366923 | 220151887 | 220152061 | In-frame |
| ENST00000366923 | 220170324 | 220170684 | In-frame |
| ENST00000366923 | 220191790 | 220191850 | In-frame |
| ENST00000366923 | 220193329 | 220193563 | 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 |
| ENST00000366923 | 220145410 | 220145489 | Frame-shift |
| ENST00000366923 | 220156113 | 220156186 | Frame-shift |
| ENST00000366923 | 220174479 | 220174597 | Frame-shift |
| ENST00000366923 | 220198473 | 220198600 | Frame-shift |
| ENST00000366923 | 220203727 | 220203822 | Frame-shift |
| ENST00000366923 | 220206843 | 220207000 | Frame-shift |
| ENST00000366923 | 220151887 | 220152061 | In-frame |
| ENST00000366923 | 220170324 | 220170684 | In-frame |
| ENST00000366923 | 220191790 | 220191850 | In-frame |
| ENST00000366923 | 220193329 | 220193563 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPRS |
| 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 |
| ENST00000366923 | 5031 | 1512 | 220193329 | 220193563 | 1386 | 1619 | 372 | 449 |
| ENST00000366923 | 5031 | 1512 | 220191790 | 220191850 | 1705 | 1764 | 478 | 498 |
| ENST00000366923 | 5031 | 1512 | 220170324 | 220170684 | 2452 | 2811 | 727 | 847 |
| ENST00000366923 | 5031 | 1512 | 220151887 | 220152061 | 4180 | 4353 | 1303 | 1361 |
| 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 |
| ENST00000366923 | 5031 | 1512 | 220193329 | 220193563 | 1386 | 1619 | 372 | 449 |
| ENST00000366923 | 5031 | 1512 | 220191790 | 220191850 | 1705 | 1764 | 478 | 498 |
| ENST00000366923 | 5031 | 1512 | 220170324 | 220170684 | 2452 | 2811 | 727 | 847 |
| ENST00000366923 | 5031 | 1512 | 220151887 | 220152061 | 4180 | 4353 | 1303 | 1361 |
| 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 |
| 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 |
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SNVs in the skipped exons for EPRS |
| - 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. |
EPRS_LIHC_exon_skip_37056_psi_boxplot.png |
| - 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 |
| COAD | TCGA-AD-6895-01 | exon_skip_37058 | 220174480 | 220174597 | 220174484 | 220174484 | Frame_Shift_Del | T | - | p.N726fs |
| STAD | TCGA-B7-A5TI-01 | exon_skip_37058 | 220174480 | 220174597 | 220174484 | 220174484 | Frame_Shift_Del | T | - | p.N726fs |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_37058 | 220174480 | 220174597 | 220174574 | 220174574 | Frame_Shift_Del | G | - | p.P696fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_37064 | 220203728 | 220203822 | 220203779 | 220203779 | Frame_Shift_Del | G | - | p.P191fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_37064 | 220203728 | 220203822 | 220203793 | 220203793 | Frame_Shift_Del | T | - | p.K186fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_37064 | 220203728 | 220203822 | 220203809 | 220203809 | Frame_Shift_Del | T | - | p.K181fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_37066 | 220206844 | 220207000 | 220206845 | 220206845 | Frame_Shift_Del | T | - | p.G130_splice |
| LIHC | TCGA-BC-A112-01 | exon_skip_37056 | 220170325 | 220170684 | 220170662 | 220170663 | Frame_Shift_Ins | - | T | p.T735fs |
| UCEC | TCGA-AP-A0LD-01 | exon_skip_37053 | 220151888 | 220152061 | 220151974 | 220151974 | Nonsense_Mutation | G | A | p.R1333* |
| SKCM | TCGA-GN-A262-06 | exon_skip_37056 | 220170325 | 220170684 | 220170519 | 220170519 | Nonsense_Mutation | G | A | p.Q783* |
| SKCM | TCGA-GN-A262-06 | exon_skip_37056 | 220170325 | 220170684 | 220170519 | 220170519 | Nonsense_Mutation | G | A | p.Q783X |
| BLCA | TCGA-GV-A3JX-01 | exon_skip_37058 | 220174480 | 220174597 | 220174523 | 220174523 | Nonsense_Mutation | G | T | p.S713* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_37061 | 220193330 | 220193563 | 220193455 | 220193455 | Nonsense_Mutation | C | T | p.W408* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_37061 | 220193330 | 220193563 | 220193455 | 220193455 | Nonsense_Mutation | C | T | p.W408X |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_37061 | 220193330 | 220193563 | 220193456 | 220193456 | Nonsense_Mutation | C | T | p.W408* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_37061 | 220193330 | 220193563 | 220193456 | 220193456 | Nonsense_Mutation | C | T | p.W408X |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_37053 | 220151888 | 220152061 | 220152063 | 220152063 | Splice_Site | T | C | . |
| LIHC | TCGA-EP-A2KB-01 | exon_skip_37056 | 220170325 | 220170684 | 220170686 | 220170686 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EP-A2KB-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_37056 | |
| Skipped exon start: 220170325 | |
| Skipped exon end: 220170684 | |
| Mutation start: 220170686 | |
| Mutation end: 220170686 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_368737_LIHC_TCGA-EP-A2KB-01.png | |
exon_skip_368739_LIHC_TCGA-EP-A2KB-01.png | |
exon_skip_37056_LIHC_TCGA-EP-A2KB-01.png | |
 | Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_37056 | |
| Skipped exon start: 220170325 | |
| Skipped exon end: 220170684 | |
| Mutation start: 220170662 | |
| Mutation end: 220170663 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.T735fs | |
exon_skip_114200_LIHC_TCGA-BC-A112-01.png | |
exon_skip_131894_LIHC_TCGA-BC-A112-01.png | |
exon_skip_135820_LIHC_TCGA-BC-A112-01.png | |
exon_skip_138911_LIHC_TCGA-BC-A112-01.png | |
exon_skip_141587_LIHC_TCGA-BC-A112-01.png | |
exon_skip_142606_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146695_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146697_LIHC_TCGA-BC-A112-01.png | |
exon_skip_152962_LIHC_TCGA-BC-A112-01.png | |
exon_skip_155765_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1757_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1879_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1881_LIHC_TCGA-BC-A112-01.png | |
exon_skip_266_LIHC_TCGA-BC-A112-01.png | |
exon_skip_284527_LIHC_TCGA-BC-A112-01.png | |
exon_skip_286998_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293546_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293549_LIHC_TCGA-BC-A112-01.png | |
exon_skip_306900_LIHC_TCGA-BC-A112-01.png | |
exon_skip_311841_LIHC_TCGA-BC-A112-01.png | |
exon_skip_325884_LIHC_TCGA-BC-A112-01.png | |
exon_skip_326432_LIHC_TCGA-BC-A112-01.png | |
exon_skip_32825_LIHC_TCGA-BC-A112-01.png | |
exon_skip_331787_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337208_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337747_LIHC_TCGA-BC-A112-01.png | |
exon_skip_339045_LIHC_TCGA-BC-A112-01.png | |
exon_skip_344031_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35548_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35556_LIHC_TCGA-BC-A112-01.png | |
exon_skip_359720_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37056_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37483_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37491_LIHC_TCGA-BC-A112-01.png | |
exon_skip_375724_LIHC_TCGA-BC-A112-01.png | |
exon_skip_378789_LIHC_TCGA-BC-A112-01.png | |
exon_skip_386291_LIHC_TCGA-BC-A112-01.png | |
exon_skip_41850_LIHC_TCGA-BC-A112-01.png | |
exon_skip_435931_LIHC_TCGA-BC-A112-01.png | |
exon_skip_436296_LIHC_TCGA-BC-A112-01.png | |
exon_skip_438393_LIHC_TCGA-BC-A112-01.png | |
exon_skip_443977_LIHC_TCGA-BC-A112-01.png | |
exon_skip_444190_LIHC_TCGA-BC-A112-01.png | |
exon_skip_44538_LIHC_TCGA-BC-A112-01.png | |
exon_skip_449944_LIHC_TCGA-BC-A112-01.png | |
exon_skip_458520_LIHC_TCGA-BC-A112-01.png | |
exon_skip_460075_LIHC_TCGA-BC-A112-01.png | |
exon_skip_472635_LIHC_TCGA-BC-A112-01.png | |
exon_skip_489149_LIHC_TCGA-BC-A112-01.png | |
exon_skip_492152_LIHC_TCGA-BC-A112-01.png | |
exon_skip_49506_LIHC_TCGA-BC-A112-01.png | |
exon_skip_5044_LIHC_TCGA-BC-A112-01.png | |
exon_skip_512559_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514460_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514990_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55171_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55175_LIHC_TCGA-BC-A112-01.png | |
exon_skip_56847_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57586_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57892_LIHC_TCGA-BC-A112-01.png | |
exon_skip_58035_LIHC_TCGA-BC-A112-01.png | |
exon_skip_6399_LIHC_TCGA-BC-A112-01.png | |
exon_skip_77132_LIHC_TCGA-BC-A112-01.png | |
| - 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 |
| D336MG_CENTRAL_NERVOUS_SYSTEM | 220156114 | 220156186 | 220156177 | 220156177 | Frame_Shift_Del | C | - | p.V1104fs |
| UMUC14_URINARY_TRACT | 220170325 | 220170684 | 220170387 | 220170388 | Frame_Shift_Del | AC | - | p.Y827fs |
| LXF289_LUNG | 220145411 | 220145489 | 220145467 | 220145467 | Missense_Mutation | G | C | p.H1423D |
| HCC2450_LUNG | 220151888 | 220152061 | 220151896 | 220151896 | Missense_Mutation | C | T | p.E1359K |
| D341MED_CENTRAL_NERVOUS_SYSTEM | 220151888 | 220152061 | 220151973 | 220151973 | Missense_Mutation | C | T | p.R1333Q |
| HCC1569_BREAST | 220151888 | 220152061 | 220152006 | 220152006 | Missense_Mutation | G | A | p.A1322V |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220151888 | 220152061 | 220152010 | 220152010 | Missense_Mutation | C | T | p.E1321K |
| TGBC11TKB_STOMACH | 220151888 | 220152061 | 220152030 | 220152030 | Missense_Mutation | G | A | p.A1314V |
| SNU1040_LARGE_INTESTINE | 220151888 | 220152061 | 220152037 | 220152037 | Missense_Mutation | T | C | p.T1312A |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220151888 | 220152061 | 220152058 | 220152058 | Missense_Mutation | C | A | p.V1305L |
| ACN_AUTONOMIC_GANGLIA | 220170325 | 220170684 | 220170405 | 220170405 | Missense_Mutation | G | T | p.L821M |
| CCK81_LARGE_INTESTINE | 220170325 | 220170684 | 220170584 | 220170584 | Missense_Mutation | C | G | p.G761A |
| DMS454_LUNG | 220170325 | 220170684 | 220170597 | 220170597 | Missense_Mutation | C | A | p.V757L |
| HEC251_ENDOMETRIUM | 220170325 | 220170684 | 220170650 | 220170650 | Missense_Mutation | G | T | p.S739Y |
| NCIH2087_LUNG | 220170325 | 220170684 | 220170662 | 220170662 | Missense_Mutation | C | T | p.R735K |
| NCIH1703_LUNG | 220174480 | 220174597 | 220174502 | 220174502 | Missense_Mutation | T | G | p.K720T |
| CORL321_PLEURA | 220193330 | 220193563 | 220193337 | 220193337 | Missense_Mutation | C | G | p.D448H |
| SNU81_LARGE_INTESTINE | 220193330 | 220193563 | 220193357 | 220193357 | Missense_Mutation | A | G | p.F441S |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220193330 | 220193563 | 220193412 | 220193412 | Missense_Mutation | A | C | p.Y423D |
| TE9_OESOPHAGUS | 220193330 | 220193563 | 220193448 | 220193448 | Missense_Mutation | C | T | p.E411K |
| EFM19_BREAST | 220193330 | 220193563 | 220193514 | 220193514 | Missense_Mutation | C | A | p.G389C |
| SNU1040_LARGE_INTESTINE | 220193330 | 220193563 | 220193540 | 220193540 | Missense_Mutation | G | T | p.A380D |
| JHUEM1_ENDOMETRIUM | 220198474 | 220198600 | 220198489 | 220198489 | Missense_Mutation | C | A | p.K245N |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220198474 | 220198600 | 220198549 | 220198549 | Missense_Mutation | C | A | p.Q225H |
| NCIH2110_LUNG | 220198474 | 220198600 | 220198574 | 220198574 | Missense_Mutation | G | C | p.A217G |
| CW2_LARGE_INTESTINE | 220203728 | 220203822 | 220203756 | 220203756 | Missense_Mutation | T | C | p.T199A |
| LS411N_LARGE_INTESTINE | 220213527 | 220213611 | 220213533 | 220213533 | Missense_Mutation | A | T | p.V42D |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220213527 | 220213611 | 220213570 | 220213570 | Missense_Mutation | T | C | p.I30V |
| GSU_STOMACH | 220213527 | 220213611 | 220213580 | 220213580 | Missense_Mutation | G | C | p.D26E |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220151888 | 220152061 | 220151974 | 220151974 | Nonsense_Mutation | G | A | p.R1333* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220151888 | 220152061 | 220151974 | 220151974 | Nonsense_Mutation | G | A | p.R1333* |
| NCIH2066_LUNG | 220193330 | 220193563 | 220193433 | 220193433 | Nonsense_Mutation | T | A | p.R416* |
| KYSE450_OESOPHAGUS | 220203728 | 220203822 | 220203729 | 220203729 | Splice_Site | C | G | p.G208R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPRS |
| 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 EPRS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPRS |
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RelatedDrugs for EPRS |
| 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 |
| P07814 | DB00142 | Glutamic Acid | Bifunctional glutamate/proline--tRNA ligase | small molecule | approved|nutraceutical |
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RelatedDiseases for EPRS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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