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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 AARS |
 Gene summary |
| Gene information | Gene symbol | AARS | Gene ID | 16 |
| Gene name | alanyl-tRNA synthetase | |
| Synonyms | CMT2N|EIEE29 | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | alanine--tRNA ligase, cytoplasmicalaRSalanine tRNA ligase 1, cytoplasmicalanyl-tRNA synthetase, cytoplasmicrenal carcinoma antigen NY-REN-42 | |
| Modification date | 20180523 | |
| UniProtAcc | P49588 | |
| Context | PubMed: AARS [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 |
| AARS | GO:0006419 | alanyl-tRNA aminoacylation | 27622773|28493438 |
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Exon skipping events across known transcript of Ensembl for AARS 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 AARS |
| 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 AARS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145708 | 16 | 70287821:70287941:70288523:70288637:70289630:70289739 | 70288523:70288637 | ENSG00000090861.11 | ENST00000261772.8,ENST00000569825.1 |
| exon_skip_145709 | 16 | 70289637:70289739:70291935:70292120:70292882:70293089 | 70291935:70292120 | ENSG00000090861.11 | ENST00000261772.8,ENST00000565361.2 |
| exon_skip_145712 | 16 | 70289637:70289739:70292882:70293089:70294946:70295060 | 70292882:70293089 | ENSG00000090861.11 | ENST00000564359.1 |
| exon_skip_145714 | 16 | 70291935:70292120:70292882:70293089:70294946:70295060 | 70292882:70293089 | ENSG00000090861.11 | ENST00000261772.8,ENST00000565361.2 |
| exon_skip_145717 | 16 | 70292938:70293089:70294946:70295060:70296248:70296264 | 70294946:70295060 | ENSG00000090861.11 | ENST00000261772.8,ENST00000564359.1,ENST00000565361.2 |
| exon_skip_145721 | 16 | 70294946:70295060:70296248:70296387:70298860:70298888 | 70296248:70296387 | ENSG00000090861.11 | ENST00000564359.1 |
| exon_skip_145722 | 16 | 70294946:70295060:70296248:70296427:70298860:70298888 | 70296248:70296427 | ENSG00000090861.11 | ENST00000261772.8 |
| exon_skip_145726 | 16 | 70303520:70303666:70304098:70304243:70305683:70305791 | 70304098:70304243 | ENSG00000090861.11 | ENST00000261772.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AARS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145708 | 16 | 70287821:70287941:70288523:70288637:70289630:70289739 | 70288523:70288637 | ENSG00000090861.11 | ENST00000261772.8,ENST00000569825.1 |
| exon_skip_145709 | 16 | 70289637:70289739:70291935:70292120:70292882:70293089 | 70291935:70292120 | ENSG00000090861.11 | ENST00000261772.8,ENST00000565361.2 |
| exon_skip_145712 | 16 | 70289637:70289739:70292882:70293089:70294946:70295060 | 70292882:70293089 | ENSG00000090861.11 | ENST00000564359.1 |
| exon_skip_145714 | 16 | 70291935:70292120:70292882:70293089:70294946:70295060 | 70292882:70293089 | ENSG00000090861.11 | ENST00000261772.8,ENST00000565361.2 |
| exon_skip_145717 | 16 | 70292938:70293089:70294946:70295060:70296248:70296264 | 70294946:70295060 | ENSG00000090861.11 | ENST00000261772.8,ENST00000565361.2,ENST00000564359.1 |
| exon_skip_145721 | 16 | 70294946:70295060:70296248:70296387:70298860:70298888 | 70296248:70296387 | ENSG00000090861.11 | ENST00000564359.1 |
| exon_skip_145722 | 16 | 70294946:70295060:70296248:70296427:70298860:70298888 | 70296248:70296427 | ENSG00000090861.11 | ENST00000261772.8 |
| exon_skip_145726 | 16 | 70303520:70303666:70304098:70304243:70305683:70305791 | 70304098:70304243 | ENSG00000090861.11 | ENST00000261772.8 |
| 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 AARS |
| 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 |
| ENST00000261772 | 70291935 | 70292120 | Frame-shift |
| ENST00000261772 | 70296248 | 70296427 | Frame-shift |
| ENST00000261772 | 70304098 | 70304243 | Frame-shift |
| ENST00000261772 | 70288523 | 70288637 | In-frame |
| ENST00000261772 | 70292882 | 70293089 | In-frame |
| ENST00000261772 | 70294946 | 70295060 | 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 |
| ENST00000261772 | 70291935 | 70292120 | Frame-shift |
| ENST00000261772 | 70296248 | 70296427 | Frame-shift |
| ENST00000261772 | 70304098 | 70304243 | Frame-shift |
| ENST00000261772 | 70288523 | 70288637 | In-frame |
| ENST00000261772 | 70292882 | 70293089 | In-frame |
| ENST00000261772 | 70294946 | 70295060 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AARS |
| 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 |
| ENST00000261772 | 3494 | 968 | 70294946 | 70295060 | 1816 | 1929 | 557 | 595 |
| ENST00000261772 | 3494 | 968 | 70292882 | 70293089 | 1930 | 2136 | 595 | 664 |
| ENST00000261772 | 3494 | 968 | 70288523 | 70288637 | 2431 | 2544 | 762 | 800 |
| 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 |
| ENST00000261772 | 3494 | 968 | 70294946 | 70295060 | 1816 | 1929 | 557 | 595 |
| ENST00000261772 | 3494 | 968 | 70292882 | 70293089 | 1930 | 2136 | 595 | 664 |
| ENST00000261772 | 3494 | 968 | 70288523 | 70288637 | 2431 | 2544 | 762 | 800 |
| 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 |
| P49588 | 557 | 595 | 1 | 968 | Chain | ID=PRO_0000075281;Note=Alanine--tRNA ligase%2C cytoplasmic |
| P49588 | 595 | 664 | 1 | 968 | Chain | ID=PRO_0000075281;Note=Alanine--tRNA ligase%2C cytoplasmic |
| P49588 | 595 | 664 | 605 | 605 | Metal binding | Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03133 |
| P49588 | 595 | 664 | 609 | 609 | Metal binding | Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03133 |
| P49588 | 595 | 664 | 608 | 608 | Natural variant | ID=VAR_073293;Note=Found in a patient with distal hereditary motor neuropathy%3B unknown pathological significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24627108;Dbxref=PMID:24627108 |
| P49588 | 762 | 800 | 1 | 968 | Chain | ID=PRO_0000075281;Note=Alanine--tRNA ligase%2C cytoplasmic |
| P49588 | 762 | 800 | 759 | 782 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T76 |
| P49588 | 762 | 800 | 789 | 804 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T76 |
| P49588 | 762 | 800 | 763 | 763 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P49588 | 557 | 595 | 1 | 968 | Chain | ID=PRO_0000075281;Note=Alanine--tRNA ligase%2C cytoplasmic |
| P49588 | 595 | 664 | 1 | 968 | Chain | ID=PRO_0000075281;Note=Alanine--tRNA ligase%2C cytoplasmic |
| P49588 | 595 | 664 | 605 | 605 | Metal binding | Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03133 |
| P49588 | 595 | 664 | 609 | 609 | Metal binding | Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03133 |
| P49588 | 595 | 664 | 608 | 608 | Natural variant | ID=VAR_073293;Note=Found in a patient with distal hereditary motor neuropathy%3B unknown pathological significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24627108;Dbxref=PMID:24627108 |
| P49588 | 762 | 800 | 1 | 968 | Chain | ID=PRO_0000075281;Note=Alanine--tRNA ligase%2C cytoplasmic |
| P49588 | 762 | 800 | 759 | 782 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T76 |
| P49588 | 762 | 800 | 789 | 804 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T76 |
| P49588 | 762 | 800 | 763 | 763 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for AARS |
| - 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. |
AARS_COAD_exon_skip_145709_psi_boxplot.png |
AARS_LIHC_exon_skip_145709_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 |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_145708 | 70288524 | 70288637 | 70288530 | 70288530 | Frame_Shift_Del | A | - | p.G799fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_145708 | 70288524 | 70288637 | 70288530 | 70288530 | Frame_Shift_Del | A | - | p.L798fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_145709 | 70291936 | 70292120 | 70292012 | 70292012 | Frame_Shift_Del | C | - | p.V701fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_145712 exon_skip_145714 | 70292883 | 70293089 | 70293086 | 70293086 | Frame_Shift_Del | G | - | p.R599fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_145712 exon_skip_145714 | 70292883 | 70293089 | 70293086 | 70293086 | Frame_Shift_Del | G | - | p.R599fs |
| COAD | TCGA-A6-5665-01 | exon_skip_145709 | 70291936 | 70292120 | 70291982 | 70291983 | Frame_Shift_Ins | - | G | p.S711fs |
| STAD | TCGA-BR-8368-01 | exon_skip_145717 | 70294947 | 70295060 | 70295027 | 70295027 | Nonsense_Mutation | G | A | p.R569* |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_145717 | 70294947 | 70295060 | 70295027 | 70295027 | Nonsense_Mutation | G | A | p.R569* |
| STAD | TCGA-BR-6452-01 | exon_skip_145717 | 70294947 | 70295060 | 70294945 | 70294945 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A6-5665-01 |
| Cancer type: COAD | |
| ESID: exon_skip_145709 | |
| Skipped exon start: 70291936 | |
| Skipped exon end: 70292120 | |
| Mutation start: 70291982 | |
| Mutation end: 70291983 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.S711fs | |
exon_skip_11611_COAD_TCGA-A6-5665-01.png | |
exon_skip_11615_COAD_TCGA-A6-5665-01.png | |
exon_skip_11638_COAD_TCGA-A6-5665-01.png | |
exon_skip_11641_COAD_TCGA-A6-5665-01.png | |
exon_skip_141199_COAD_TCGA-A6-5665-01.png | |
exon_skip_145709_COAD_TCGA-A6-5665-01.png | |
exon_skip_290233_COAD_TCGA-A6-5665-01.png | |
exon_skip_297638_COAD_TCGA-A6-5665-01.png | |
exon_skip_303317_COAD_TCGA-A6-5665-01.png | |
exon_skip_339648_COAD_TCGA-A6-5665-01.png | |
exon_skip_347690_COAD_TCGA-A6-5665-01.png | |
exon_skip_389258_COAD_TCGA-A6-5665-01.png | |
exon_skip_389265_COAD_TCGA-A6-5665-01.png | |
exon_skip_434039_COAD_TCGA-A6-5665-01.png | |
exon_skip_434040_COAD_TCGA-A6-5665-01.png | |
exon_skip_438605_COAD_TCGA-A6-5665-01.png | |
exon_skip_91135_COAD_TCGA-A6-5665-01.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 |
| LN382_CENTRAL_NERVOUS_SYSTEM | 70291936 | 70292120 | 70292024 | 70292024 | Missense_Mutation | C | T | p.V697I |
| LU139_LUNG | 70292883 | 70293089 | 70292926 | 70292926 | Missense_Mutation | T | C | p.K650R |
| EVSAT_BREAST | 70292883 | 70293089 | 70292952 | 70292952 | Missense_Mutation | C | G | p.K641N |
| UOK101_KIDNEY | 70292883 | 70293089 | 70293052 | 70293052 | Missense_Mutation | G | A | p.T608M |
| NCIH196_LUNG | 70292883 | 70293089 | 70293055 | 70293055 | Missense_Mutation | G | A | p.A607V |
| NCIH1155_LUNG | 70296249 | 70296387 | 70296274 | 70296274 | Missense_Mutation | A | G | p.V549A |
| NCIH1155_LUNG | 70296249 | 70296427 | 70296274 | 70296274 | Missense_Mutation | A | G | p.V549A |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70296249 | 70296387 | 70296304 | 70296304 | Missense_Mutation | C | T | p.G539E |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70296249 | 70296427 | 70296304 | 70296304 | Missense_Mutation | C | T | p.G539E |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70296249 | 70296387 | 70296391 | 70296391 | Missense_Mutation | C | T | p.R510H |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70296249 | 70296427 | 70296391 | 70296391 | Missense_Mutation | C | T | p.R510H |
| RMGI_OVARY | 70296249 | 70296387 | 70296391 | 70296391 | Missense_Mutation | C | T | p.R510H |
| RMGI_OVARY | 70296249 | 70296427 | 70296391 | 70296391 | Missense_Mutation | C | T | p.R510H |
| PEDS015T_SOFT_TISSUE | 70296249 | 70296427 | 70296407 | 70296407 | Missense_Mutation | T | C | p.T505A |
| ONCODG1_OVARY | 70304099 | 70304243 | 70304150 | 70304150 | Missense_Mutation | C | A | p.M255I |
| BT474_BREAST | 70304099 | 70304243 | 70304236 | 70304236 | Missense_Mutation | C | T | p.D227N |
| NB13_AUTONOMIC_GANGLIA | 70304099 | 70304243 | 70304240 | 70304240 | Missense_Mutation | T | A | p.E225D |
| HCT15_LARGE_INTESTINE | 70296249 | 70296387 | 70296291 | 70296291 | Nonsense_Mutation | A | C | p.Y543* |
| HCT15_LARGE_INTESTINE | 70296249 | 70296427 | 70296291 | 70296291 | Nonsense_Mutation | A | C | p.Y543* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AARS |
| 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 AARS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AARS |
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RelatedDrugs for AARS |
| 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 AARS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AARS | C2750090 | Charcot-Marie-Tooth Disease, Axonal, Type 2n | 3 | CTD_human;ORPHANET;UNIPROT |
| AARS | C4225361 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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