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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 DARS2 |
 Gene summary |
| Gene information | Gene symbol | DARS2 | Gene ID | 55157 |
| Gene name | aspartyl-tRNA synthetase 2, mitochondrial | |
| Synonyms | ASPRS|LBSL|MT-ASPRS | |
| Cytomap | 1q25.1 | |
| Type of gene | protein-coding | |
| Description | aspartate--tRNA ligase, mitochondrialaspartate tRNA ligase 2, mitochondrialaspartyl-tRNA synthetase, mitochondrial | |
| Modification date | 20180519 | |
| UniProtAcc | Q6PI48 | |
| Context | PubMed: DARS2 [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 |
| DARS2 | GO:0043039 | tRNA aminoacylation | 15779907|17384640 |
| DARS2 | GO:0070145 | mitochondrial asparaginyl-tRNA aminoacylation | 23275545 |
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Exon skipping events across known transcript of Ensembl for DARS2 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 DARS2 |
| 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 DARS2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14229 | 1 | 173795824:173795924:173797470:173797537:173799797:173799899 | 173797470:173797537 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14230 | 1 | 173797470:173797537:173799797:173799899:173800672:173800768 | 173799797:173799899 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14234 | 1 | 173799797:173799899:173800672:173800768:173802513:173802637 | 173800672:173800768 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14235 | 1 | 173800672:173800768:173802513:173802637:173803610:173803657 | 173802513:173802637 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14236 | 1 | 173802513:173802637:173803610:173803657:173806077:173806184 | 173803610:173803657 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14237 | 1 | 173803610:173803657:173806077:173806184:173807327:173807397 | 173806077:173806184 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14239 | 1 | 173808504:173808684:173810003:173810111:173814366:173814429 | 173810003:173810111 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14241 | 1 | 173810050:173810111:173814366:173814429:173819464:173819617 | 173814366:173814429 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5,ENST00000471476.1 |
| exon_skip_14248 | 1 | 173814366:173814429:173819464:173819617:173822486:173822705 | 173819464:173819617 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5,ENST00000471476.1 |
| exon_skip_14251 | 1 | 173819507:173819617:173822486:173822705:173825803:173825879 | 173822486:173822705 | ENSG00000117593.8 | ENST00000239457.5,ENST00000471476.1 |
| exon_skip_14254 | 1 | 173822582:173822705:173822932:173823043:173825803:173825879 | 173822932:173823043 | ENSG00000117593.8 | ENST00000361951.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DARS2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14229 | 1 | 173795824:173795924:173797470:173797537:173799797:173799899 | 173797470:173797537 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14230 | 1 | 173797470:173797537:173799797:173799899:173800672:173800768 | 173799797:173799899 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14234 | 1 | 173799797:173799899:173800672:173800768:173802513:173802637 | 173800672:173800768 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14235 | 1 | 173800672:173800768:173802513:173802637:173803610:173803657 | 173802513:173802637 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14236 | 1 | 173802513:173802637:173803610:173803657:173806077:173806184 | 173803610:173803657 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14237 | 1 | 173803610:173803657:173806077:173806184:173807327:173807397 | 173806077:173806184 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14239 | 1 | 173808504:173808684:173810003:173810111:173814366:173814429 | 173810003:173810111 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5 |
| exon_skip_14241 | 1 | 173810050:173810111:173814366:173814429:173819464:173819617 | 173814366:173814429 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5,ENST00000471476.1 |
| exon_skip_14248 | 1 | 173814366:173814429:173819464:173819617:173822486:173822705 | 173819464:173819617 | ENSG00000117593.8 | ENST00000361951.4,ENST00000239457.5,ENST00000471476.1 |
| exon_skip_14251 | 1 | 173819507:173819617:173822486:173822705:173825803:173825879 | 173822486:173822705 | ENSG00000117593.8 | ENST00000239457.5,ENST00000471476.1 |
| exon_skip_14254 | 1 | 173822582:173822705:173822932:173823043:173825803:173825879 | 173822932:173823043 | ENSG00000117593.8 | ENST00000361951.4 |
| 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 DARS2 |
| 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 |
| ENST00000361951 | 173797470 | 173797537 | Frame-shift |
| ENST00000361951 | 173802513 | 173802637 | Frame-shift |
| ENST00000361951 | 173803610 | 173803657 | Frame-shift |
| ENST00000361951 | 173806077 | 173806184 | Frame-shift |
| ENST00000361951 | 173799797 | 173799899 | In-frame |
| ENST00000361951 | 173800672 | 173800768 | In-frame |
| ENST00000361951 | 173810003 | 173810111 | In-frame |
| ENST00000361951 | 173814366 | 173814429 | In-frame |
| ENST00000361951 | 173819464 | 173819617 | In-frame |
| ENST00000361951 | 173822932 | 173823043 | 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 |
| ENST00000361951 | 173797470 | 173797537 | Frame-shift |
| ENST00000361951 | 173802513 | 173802637 | Frame-shift |
| ENST00000361951 | 173803610 | 173803657 | Frame-shift |
| ENST00000361951 | 173806077 | 173806184 | Frame-shift |
| ENST00000361951 | 173799797 | 173799899 | In-frame |
| ENST00000361951 | 173800672 | 173800768 | In-frame |
| ENST00000361951 | 173810003 | 173810111 | In-frame |
| ENST00000361951 | 173814366 | 173814429 | In-frame |
| ENST00000361951 | 173819464 | 173819617 | In-frame |
| ENST00000361951 | 173822932 | 173823043 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DARS2 |
| 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 |
| ENST00000361951 | 3523 | 645 | 173799797 | 173799899 | 1022 | 1123 | 98 | 132 |
| ENST00000361951 | 3523 | 645 | 173800672 | 173800768 | 1124 | 1219 | 132 | 164 |
| ENST00000361951 | 3523 | 645 | 173810003 | 173810111 | 1748 | 1855 | 340 | 376 |
| ENST00000361951 | 3523 | 645 | 173814366 | 173814429 | 1856 | 1918 | 376 | 397 |
| ENST00000361951 | 3523 | 645 | 173819464 | 173819617 | 1919 | 2071 | 397 | 448 |
| ENST00000361951 | 3523 | 645 | 173822932 | 173823043 | 2291 | 2401 | 521 | 558 |
| 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 |
| ENST00000361951 | 3523 | 645 | 173799797 | 173799899 | 1022 | 1123 | 98 | 132 |
| ENST00000361951 | 3523 | 645 | 173800672 | 173800768 | 1124 | 1219 | 132 | 164 |
| ENST00000361951 | 3523 | 645 | 173810003 | 173810111 | 1748 | 1855 | 340 | 376 |
| ENST00000361951 | 3523 | 645 | 173814366 | 173814429 | 1856 | 1918 | 376 | 397 |
| ENST00000361951 | 3523 | 645 | 173819464 | 173819617 | 1919 | 2071 | 397 | 448 |
| ENST00000361951 | 3523 | 645 | 173822932 | 173823043 | 2291 | 2401 | 521 | 558 |
| 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 |
| Q6PI48 | 98 | 132 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 132 | 164 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 132 | 164 | 152 | 152 | Natural variant | ID=VAR_037016;Note=In LBSL. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17384640;Dbxref=dbSNP:rs121918208,PMID:17384640 |
| Q6PI48 | 340 | 376 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 376 | 397 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 376 | 397 | 382 | 382 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q6PI48 | 397 | 448 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 521 | 558 | 535 | 535 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6PI48 | 521 | 558 | 542 | 542 | Binding site | Note=Aspartate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6PI48 | 521 | 558 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| 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 |
| Q6PI48 | 98 | 132 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 132 | 164 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 132 | 164 | 152 | 152 | Natural variant | ID=VAR_037016;Note=In LBSL. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17384640;Dbxref=dbSNP:rs121918208,PMID:17384640 |
| Q6PI48 | 340 | 376 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 376 | 397 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 376 | 397 | 382 | 382 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q6PI48 | 397 | 448 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
| Q6PI48 | 521 | 558 | 535 | 535 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6PI48 | 521 | 558 | 542 | 542 | Binding site | Note=Aspartate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6PI48 | 521 | 558 | 48 | 645 | Chain | ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial |
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SNVs in the skipped exons for DARS2 |
| - 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. |
DARS2_LIHC_exon_skip_14237_psi_boxplot.png |
DARS2_LUSC_exon_skip_14237_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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_14229 | 173797471 | 173797537 | 173797505 | 173797505 | Frame_Shift_Del | G | - | p.G88fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14230 | 173799798 | 173799899 | 173799820 | 173799820 | Frame_Shift_Del | T | - | p.I106fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_14234 | 173800673 | 173800768 | 173800706 | 173800706 | Frame_Shift_Del | A | - | p.K144fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14235 | 173802514 | 173802637 | 173802607 | 173802607 | Frame_Shift_Del | A | - | p.K196fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14236 | 173803611 | 173803657 | 173803629 | 173803629 | Frame_Shift_Del | C | - | p.T212fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_14236 | 173803611 | 173803657 | 173803629 | 173803629 | Frame_Shift_Del | C | - | p.T212fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_14237 | 173806078 | 173806184 | 173806090 | 173806090 | Frame_Shift_Del | T | - | p.F226fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14237 | 173806078 | 173806184 | 173806120 | 173806120 | Frame_Shift_Del | T | - | p.F236fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_14241 | 173814367 | 173814429 | 173814420 | 173814420 | Frame_Shift_Del | T | - | p.H394fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_14254 | 173822933 | 173823043 | 173822962 | 173822962 | Frame_Shift_Del | A | - | p.L531fs |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_14239 | 173810004 | 173810111 | 173810069 | 173810070 | Frame_Shift_Ins | - | C | p.K362fs |
| LUSC | TCGA-85-6561-01 | exon_skip_14234 | 173800673 | 173800768 | 173800688 | 173800688 | Nonsense_Mutation | G | T | p.E138* |
| LUSC | TCGA-66-2795-01 | exon_skip_14237 | 173806078 | 173806184 | 173806114 | 173806114 | Nonsense_Mutation | G | T | p.G234* |
| BLCA | TCGA-2F-A9KR-01 | exon_skip_14237 | 173806078 | 173806184 | 173806135 | 173806135 | Nonsense_Mutation | C | T | p.Q241* |
| BLCA | TCGA-XF-AAML-01 | exon_skip_14248 | 173819465 | 173819617 | 173819576 | 173819576 | Nonsense_Mutation | G | T | p.E435* |
| UCEC | TCGA-AP-A056-01 | exon_skip_14254 | 173822933 | 173823043 | 173822993 | 173822993 | Nonsense_Mutation | C | T | p.R542* |
| LUSC | TCGA-66-2786-01 | exon_skip_14235 | 173802514 | 173802637 | 173802512 | 173802512 | Splice_Site | A | G | p.K165_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-66-2795-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_14237 | |
| Skipped exon start: 173806078 | |
| Skipped exon end: 173806184 | |
| Mutation start: 173806114 | |
| Mutation end: 173806114 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.G234* | |
exon_skip_14237_LUSC_TCGA-66-2795-01.png | |
exon_skip_289186_LUSC_TCGA-66-2795-01.png | |
exon_skip_289188_LUSC_TCGA-66-2795-01.png | |
exon_skip_289189_LUSC_TCGA-66-2795-01.png | |
exon_skip_289190_LUSC_TCGA-66-2795-01.png | |
exon_skip_433949_LUSC_TCGA-66-2795-01.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 |
| RCM1_LARGE_INTESTINE | 173797471 | 173797537 | 173797494 | 173797494 | Missense_Mutation | G | A | p.R84K |
| NCIH23_LUNG | 173797471 | 173797537 | 173797533 | 173797533 | Missense_Mutation | A | G | p.D97G |
| HEC251_ENDOMETRIUM | 173799798 | 173799899 | 173799822 | 173799822 | Missense_Mutation | T | G | p.L107V |
| KMRC3_KIDNEY | 173799798 | 173799899 | 173799831 | 173799831 | Missense_Mutation | G | A | p.A110T |
| LNCAPCLONEFGC_PROSTATE | 173799798 | 173799899 | 173799891 | 173799891 | Missense_Mutation | G | A | p.E130K |
| HT115_LARGE_INTESTINE | 173802514 | 173802637 | 173802529 | 173802529 | Missense_Mutation | C | T | p.R170W |
| HS939T_SKIN | 173803611 | 173803657 | 173803655 | 173803655 | Missense_Mutation | G | A | p.G221R |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173806078 | 173806184 | 173806081 | 173806081 | Missense_Mutation | G | A | p.A223T |
| COLO684_ENDOMETRIUM | 173806078 | 173806184 | 173806118 | 173806118 | Missense_Mutation | A | G | p.K235R |
| HEC251_ENDOMETRIUM | 173806078 | 173806184 | 173806127 | 173806127 | Missense_Mutation | C | A | p.S238Y |
| LS411N_LARGE_INTESTINE | 173819465 | 173819617 | 173819489 | 173819489 | Missense_Mutation | G | A | p.A406T |
| HT115_LARGE_INTESTINE | 173819465 | 173819617 | 173819508 | 173819508 | Missense_Mutation | C | T | p.S412F |
| MFE319_ENDOMETRIUM | 173819465 | 173819617 | 173819519 | 173819519 | Missense_Mutation | A | G | p.N416D |
| SNU1040_LARGE_INTESTINE | 173819465 | 173819617 | 173819531 | 173819531 | Missense_Mutation | G | A | p.E420K |
| SNU1040_LARGE_INTESTINE | 173819465 | 173819617 | 173819615 | 173819615 | Missense_Mutation | G | A | p.A448T |
| C33A_CERVIX | 173822487 | 173822705 | 173822525 | 173822525 | Missense_Mutation | C | A | p.D461E |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173822487 | 173822705 | 173822661 | 173822661 | Missense_Mutation | C | T | p.P507S |
| MEWO_SKIN | 173822487 | 173822705 | 173822662 | 173822662 | Missense_Mutation | C | T | p.P507L |
| HSC1_SKIN | 173822933 | 173823043 | 173823032 | 173823032 | Missense_Mutation | A | G | p.T555A |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173802514 | 173802637 | 173802583 | 173802583 | Nonsense_Mutation | C | T | p.R188* |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 173822487 | 173822705 | 173822508 | 173822508 | Nonsense_Mutation | C | T | p.R456* |
| HCC2998_LARGE_INTESTINE | 173822933 | 173823043 | 173822993 | 173822993 | Nonsense_Mutation | C | T | p.R542* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DARS2 |
| 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 DARS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DARS2 |
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RelatedDrugs for DARS2 |
| 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 DARS2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DARS2 | C1970180 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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