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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 AARS2 |
 Gene summary |
| Gene information | Gene symbol | AARS2 | Gene ID | 57505 |
| Gene name | alanyl-tRNA synthetase 2, mitochondrial | |
| Synonyms | AARSL|COXPD8|LKENP|MT-ALARS|MTALARS | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | alanine--tRNA ligase, mitochondrialalanine tRNA ligase 2, mitochondrial (putative)alanyl-tRNA synthetase 2, mitochondrial (putative)alanyl-tRNA synthetase likeprobable alanyl-tRNA synthetase, mitochondrial | |
| Modification date | 20180523 | |
| UniProtAcc | Q5JTZ9 | |
| Context | PubMed: AARS2 [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 AARS2 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 AARS2 |
| 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 AARS2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459874 | 6 | 44267390:44268448:44268892:44269003:44269117:44269157 | 44268892:44269003 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459875 | 6 | 44269796:44269907:44270127:44270250:44270538:44270647 | 44270127:44270250 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459876 | 6 | 44270127:44270250:44270538:44270647:44270802:44270912 | 44270538:44270647 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459877 | 6 | 44270538:44270647:44270802:44270912:44271022:44271160 | 44270802:44270912 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459882 | 6 | 44274016:44274128:44274230:44274269:44274659:44274768 | 44274230:44274269 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459885 | 6 | 44274659:44274768:44274985:44275131:44278035:44278180 | 44274985:44275131 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459889 | 6 | 44274985:44275131:44278035:44278180:44278730:44278898 | 44278035:44278180 | ENSG00000124608.4 | ENST00000244571.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AARS2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459874 | 6 | 44267390:44268448:44268892:44269003:44269117:44269157 | 44268892:44269003 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459875 | 6 | 44269796:44269907:44270127:44270250:44270538:44270647 | 44270127:44270250 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459876 | 6 | 44270127:44270250:44270538:44270647:44270802:44270912 | 44270538:44270647 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459877 | 6 | 44270538:44270647:44270802:44270912:44271022:44271160 | 44270802:44270912 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459882 | 6 | 44274016:44274128:44274230:44274269:44274659:44274768 | 44274230:44274269 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459885 | 6 | 44274659:44274768:44274985:44275131:44278035:44278180 | 44274985:44275131 | ENSG00000124608.4 | ENST00000244571.4 |
| exon_skip_459889 | 6 | 44274985:44275131:44278035:44278180:44278730:44278898 | 44278035:44278180 | ENSG00000124608.4 | ENST00000244571.4 |
| 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 AARS2 |
| 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 |
| ENST00000244571 | 44270538 | 44270647 | Frame-shift |
| ENST00000244571 | 44270802 | 44270912 | Frame-shift |
| ENST00000244571 | 44274985 | 44275131 | Frame-shift |
| ENST00000244571 | 44278035 | 44278180 | Frame-shift |
| ENST00000244571 | 44268892 | 44269003 | In-frame |
| ENST00000244571 | 44270127 | 44270250 | In-frame |
| ENST00000244571 | 44274230 | 44274269 | 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 |
| ENST00000244571 | 44270538 | 44270647 | Frame-shift |
| ENST00000244571 | 44270802 | 44270912 | Frame-shift |
| ENST00000244571 | 44274985 | 44275131 | Frame-shift |
| ENST00000244571 | 44278035 | 44278180 | Frame-shift |
| ENST00000244571 | 44268892 | 44269003 | In-frame |
| ENST00000244571 | 44270127 | 44270250 | In-frame |
| ENST00000244571 | 44274230 | 44274269 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AARS2 |
| 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 |
| ENST00000244571 | 3871 | 985 | 44274230 | 44274269 | 1153 | 1191 | 383 | 396 |
| ENST00000244571 | 3871 | 985 | 44270127 | 44270250 | 2368 | 2490 | 788 | 829 |
| ENST00000244571 | 3871 | 985 | 44268892 | 44269003 | 2686 | 2796 | 894 | 931 |
| 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 |
| ENST00000244571 | 3871 | 985 | 44274230 | 44274269 | 1153 | 1191 | 383 | 396 |
| ENST00000244571 | 3871 | 985 | 44270127 | 44270250 | 2368 | 2490 | 788 | 829 |
| ENST00000244571 | 3871 | 985 | 44268892 | 44269003 | 2686 | 2796 | 894 | 931 |
| 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 |
| Q5JTZ9 | 383 | 396 | 24 | 985 | Chain | ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial |
| Q5JTZ9 | 788 | 829 | 24 | 985 | Chain | ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial |
| Q5JTZ9 | 894 | 931 | 24 | 985 | Chain | ID=PRO_0000250725;Note=Alanine--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 |
| Q5JTZ9 | 383 | 396 | 24 | 985 | Chain | ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial |
| Q5JTZ9 | 788 | 829 | 24 | 985 | Chain | ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial |
| Q5JTZ9 | 894 | 931 | 24 | 985 | Chain | ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial |
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SNVs in the skipped exons for AARS2 |
| - 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_459874 | 44268893 | 44269003 | 44268923 | 44268923 | Frame_Shift_Del | C | - | p.G921fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_459874 | 44268893 | 44269003 | 44268923 | 44268923 | Frame_Shift_Del | C | - | p.K922fs |
| GBM | TCGA-06-0743-01 | exon_skip_459877 | 44270803 | 44270912 | 44270876 | 44270876 | Frame_Shift_Del | C | - | p.V728fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_459877 | 44270803 | 44270912 | 44270876 | 44270876 | Frame_Shift_Del | C | - | p.V728fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_459889 | 44278036 | 44278180 | 44278107 | 44278107 | Frame_Shift_Del | C | - | p.A275fs |
| LUAD | TCGA-78-7537-01 | exon_skip_459889 | 44278036 | 44278180 | 44278144 | 44278144 | Frame_Shift_Del | C | - | p.R262fs |
| KIRP | TCGA-IA-A83V-01 | exon_skip_459889 | 44278036 | 44278180 | 44278164 | 44278164 | Frame_Shift_Del | G | - | p.L256fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_459885 | 44274986 | 44275131 | 44275104 | 44275104 | Nonsense_Mutation | G | A | p.R308* |
| SARC | TCGA-DX-A3UE-01 | exon_skip_459889 | 44278036 | 44278180 | 44278041 | 44278041 | Nonsense_Mutation | G | A | p.Q297* |
| KIRC | TCGA-B0-5085-01 | exon_skip_459877 | 44270803 | 44270912 | 44270802 | 44270802 | Splice_Site | C | A | . |
| STAD | TCGA-BR-A4IY-01 | exon_skip_459882 | 44274231 | 44274269 | 44274230 | 44274230 | Splice_Site | C | G | p.Q396_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 |
| SNUC5_LARGE_INTESTINE | 44270128 | 44270250 | 44270139 | 44270139 | Missense_Mutation | G | C | p.R826G |
| MEWO_SKIN | 44270128 | 44270250 | 44270204 | 44270204 | Missense_Mutation | G | A | p.T804I |
| SNUC2A_LARGE_INTESTINE | 44270539 | 44270647 | 44270562 | 44270562 | Missense_Mutation | C | T | p.V781I |
| SNUC2B_LARGE_INTESTINE | 44270539 | 44270647 | 44270562 | 44270562 | Missense_Mutation | C | T | p.V781I |
| SNUC2A_LARGE_INTESTINE | 44270539 | 44270647 | 44270573 | 44270573 | Missense_Mutation | C | T | p.R777H |
| SNUC2B_LARGE_INTESTINE | 44270539 | 44270647 | 44270573 | 44270573 | Missense_Mutation | C | T | p.R777H |
| TE4_OESOPHAGUS | 44270539 | 44270647 | 44270598 | 44270598 | Missense_Mutation | G | A | p.R769C |
| NCIH358_LUNG | 44270803 | 44270912 | 44270861 | 44270861 | Missense_Mutation | C | A | p.A733S |
| MKN7_STOMACH | 44270803 | 44270912 | 44270894 | 44270894 | Missense_Mutation | G | A | p.R722W |
| SNUC5_LARGE_INTESTINE | 44274986 | 44275131 | 44275061 | 44275061 | Missense_Mutation | C | T | p.R322H |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44274986 | 44275131 | 44275064 | 44275064 | Missense_Mutation | T | C | p.Y321C |
| NUGC4_STOMACH | 44278036 | 44278180 | 44278058 | 44278058 | Missense_Mutation | G | A | p.P291L |
| RL952_ENDOMETRIUM | 44270128 | 44270250 | 44270139 | 44270139 | Nonsense_Mutation | G | A | p.R826* |
| TE6_OESOPHAGUS | 44270128 | 44270250 | 44270139 | 44270139 | Nonsense_Mutation | G | A | p.R826* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AARS2 |
| 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 AARS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AARS2 |
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RelatedDrugs for AARS2 |
| 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 AARS2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AARS2 | C3279793 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 | 1 | ORPHANET;UNIPROT |
| AARS2 | C4014588 | LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE | 1 | UNIPROT |
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