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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for HARS2 |
 Gene summary |
| Gene information | Gene symbol | HARS2 | Gene ID | 23438 |
| Gene name | histidyl-tRNA synthetase 2, mitochondrial | |
| Synonyms | HARSL|HARSR|HO3|HisRS|PRLTS2 | |
| Cytomap | 5q31.3 | |
| Type of gene | protein-coding | |
| Description | probable histidine--tRNA ligase, mitochondrialHARS-relatedhistidine tRNA ligase 2, mitochondrial (putative)histidine translasehistidine-tRNA ligase homologhistidyl-tRNA synthetase 2, mitochondrial (putative)histidyl-tRNA synthetase 2, mitochondrial, | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HARS2 | GO:0006427 | histidyl-tRNA aminoacylation | 21464306 |
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Gene structures and expression levels for HARS2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000112855
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000503873.6 | HARS2-204:protein_coding:HARS2 | 2.808006e+00 | 2.560298e+00 | 4.159390e-04 | 1.466817e-02 |
| CB | DOWN | ENST00000647484.1 | HARS2-220:nonsense_mediated_decay:HARS2 | 4.710164e+02 | -9.096652e-01 | 1.662393e-11 | 1.476985e-09 |
| CB | UP | ENST00000642752.1 | HARS2-214:protein_coding:HARS2 | 1.650745e+02 | 1.224189e+00 | 2.088892e-05 | 1.962532e-04 |
| CB | DOWN | ENST00000503873.6 | HARS2-204:protein_coding:HARS2 | 1.797407e+02 | -1.405303e+00 | 4.694811e-05 | 3.899258e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HARS2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_131976 | chr5 | 140691683:140691756:140693491:140693665:140693935:140693987 | 140693491:140693665 |
| exon_skip_140972 | chr5 | 140691795:140692017:140693491:140693665:140693935:140693987 | 140693491:140693665 |
| exon_skip_167360 | chr5 | 140691484:140691515:140691795:140692017:140693591:140693665 | 140691795:140692017 |
| exon_skip_184212 | chr5 | 140691484:140691515:140691792:140692017:140693491:140693665 | 140691792:140692017 |
| exon_skip_206584 | chr5 | 140691683:140691756:140693491:140693508:140693591:140693665 | 140693491:140693508 |
| exon_skip_22245 | chr5 | 140691795:140692017:140693591:140693665:140693935:140693987 | 140693591:140693665 |
| exon_skip_225517 | chr5 | 140691484:140691515:140693491:140693508:140693591:140693665 | 140693491:140693508 |
| exon_skip_230371 | chr5 | 140691683:140691756:140693591:140693665:140693935:140693987 | 140693591:140693665 |
| exon_skip_285358 | chr5 | 140695738:140695845:140696029:140696201:140696521:140696614 | 140696029:140696201 |
| exon_skip_290523 | chr5 | 140695738:140695845:140696103:140696201:140696521:140696614 | 140696103:140696201 |
| exon_skip_3654 | chr5 | 140691484:140691515:140691795:140691937:140693591:140693665 | 140691795:140691937 |
| exon_skip_3668 | chr5 | 140695738:140695845:140696521:140696614:140696943:140697070 | 140696521:140696614 |
| exon_skip_45000 | chr5 | 140691484:140691515:140691607:140691756:140693591:140693665 | 140691607:140691756 |
| exon_skip_48326 | chr5 | 140691484:140691515:140691795:140692329:140693491:140693564 | 140691795:140692329 |
| exon_skip_78518 | chr5 | 140691484:140691515:140691607:140691756:140693491:140693508 | 140691607:140691756 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_290523 | Mayo_CB | 7.491463e-01 | 8.754286e-01 | -1.262822e-01 | 2.535802e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for HARS2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000230771 | 140693591 | 140693665 | In-frame |
| ENST00000645749 | 140693591 | 140693665 | In-frame |
| ENST00000230771 | 140696103 | 140696201 | In-frame |
| ENST00000645749 | 140696103 | 140696201 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000230771 | 140693591 | 140693665 | In-frame |
| ENST00000645749 | 140693591 | 140693665 | In-frame |
| ENST00000230771 | 140696103 | 140696201 | In-frame |
| ENST00000645749 | 140696103 | 140696201 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000645749 | 140691607 | 140691756 | 5CDS-5UTR |
| ENST00000230771 | 140693591 | 140693665 | In-frame |
| ENST00000645749 | 140693591 | 140693665 | In-frame |
| ENST00000230771 | 140696103 | 140696201 | In-frame |
| ENST00000645749 | 140696103 | 140696201 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HARS2 |
p-ENSG00000112855_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000230771 | 2527 | 506 | 140693591 | 140693665 | 333 | 406 | 36 | 61 |
| ENST00000645749 | 2309 | 506 | 140693591 | 140693665 | 198 | 271 | 36 | 61 |
| ENST00000230771 | 2527 | 506 | 140696103 | 140696201 | 858 | 955 | 211 | 244 |
| ENST00000645749 | 2309 | 506 | 140696103 | 140696201 | 723 | 820 | 211 | 244 |
| Loci of skipped exons in MSBB 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 |
| ENST00000230771 | 2527 | 506 | 140693591 | 140693665 | 333 | 406 | 36 | 61 |
| ENST00000645749 | 2309 | 506 | 140693591 | 140693665 | 198 | 271 | 36 | 61 |
| ENST00000230771 | 2527 | 506 | 140696103 | 140696201 | 858 | 955 | 211 | 244 |
| ENST00000645749 | 2309 | 506 | 140696103 | 140696201 | 723 | 820 | 211 | 244 |
| Loci of skipped exons in Mayo 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 |
| ENST00000230771 | 2527 | 506 | 140693591 | 140693665 | 333 | 406 | 36 | 61 |
| ENST00000645749 | 2309 | 506 | 140693591 | 140693665 | 198 | 271 | 36 | 61 |
| ENST00000230771 | 2527 | 506 | 140696103 | 140696201 | 858 | 955 | 211 | 244 |
| ENST00000645749 | 2309 | 506 | 140696103 | 140696201 | 723 | 820 | 211 | 244 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P49590 | 36 | 61 | 37 | 61 | Alternative sequence | ID=VSP_055133;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P49590 | 36 | 61 | 37 | 61 | Alternative sequence | ID=VSP_055133;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P49590 | 36 | 61 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 36 | 61 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 211 | 244 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 211 | 244 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P49590 | 36 | 61 | 37 | 61 | Alternative sequence | ID=VSP_055133;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P49590 | 36 | 61 | 37 | 61 | Alternative sequence | ID=VSP_055133;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P49590 | 36 | 61 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 36 | 61 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 211 | 244 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 211 | 244 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P49590 | 36 | 61 | 37 | 61 | Alternative sequence | ID=VSP_055133;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P49590 | 36 | 61 | 37 | 61 | Alternative sequence | ID=VSP_055133;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P49590 | 36 | 61 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 36 | 61 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 211 | 244 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
| P49590 | 211 | 244 | 34 | 506 | Chain | ID=PRO_0000136336;Note=Probable histidine--tRNA ligase%2C mitochondrial |
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3'-UTR located exon skipping events that lost miRNA binding sites in HARS2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for HARS2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for HARS2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HARS2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for HARS2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_290523 | -4.742075e-01 | 6.773723e-10 |
| CB | TRA2A | exon_skip_290523 | -5.689730e-01 | 2.047841e-14 |
| CB | KHSRP | exon_skip_290523 | -4.158108e-01 | 9.964103e-08 |
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RelatedDrugs for HARS2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HARS2 |
| 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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