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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 PACRG |
 Gene summary |
| Gene information | Gene symbol | PACRG | Gene ID | 135138 |
| Gene name | parkin coregulated | |
| Synonyms | GLUP|HAK005771|PARK2CRG | |
| Cytomap | 6q26 | |
| Type of gene | protein-coding | |
| Description | parkin coregulated gene proteinPARK2 co-regulatedPARK2 coregulatedmolecular chaperone/chaperonin-binding proteinparkin co-regulated gene protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q96M98 | |
| Context | PubMed: PACRG [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 PACRG 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 PACRG |
| 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 PACRG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455370 | 6 | 163148163:163148311:163149191:163149423:163235178:163235313 | 163149191:163149423 | ENSG00000112530.7 | ENST00000366889.2 |
| exon_skip_455372 | 6 | 163149191:163149423:163235178:163235313:163483181:163483353 | 163235178:163235313 | ENSG00000112530.7 | ENST00000366888.2,ENST00000337019.3,ENST00000366889.2 |
| exon_skip_455373 | 6 | 163235276:163235313:163418437:163418576:163483181:163483353 | 163418437:163418576 | ENSG00000112530.7 | ENST00000541974.1 |
| exon_skip_455374 | 6 | 163483317:163483353:163510290:163510440:163735858:163736174 | 163510290:163510440 | ENSG00000112530.7 | ENST00000366888.2,ENST00000366889.2,ENST00000541974.1 |
| exon_skip_455376 | 6 | 163510290:163510440:163733810:163733927:163735858:163736174 | 163733810:163733927 | ENSG00000112530.7 | ENST00000337019.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PACRG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455370 | 6 | 163148163:163148311:163149191:163149423:163235178:163235313 | 163149191:163149423 | ENSG00000112530.7 | ENST00000366889.2 |
| exon_skip_455373 | 6 | 163235276:163235313:163418437:163418576:163483181:163483353 | 163418437:163418576 | ENSG00000112530.7 | ENST00000541974.1 |
| exon_skip_455374 | 6 | 163483317:163483353:163510290:163510440:163735858:163736174 | 163510290:163510440 | ENSG00000112530.7 | ENST00000366889.2,ENST00000366888.2,ENST00000541974.1 |
| exon_skip_455376 | 6 | 163510290:163510440:163733810:163733927:163735858:163736174 | 163733810:163733927 | ENSG00000112530.7 | ENST00000337019.3 |
| 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 PACRG |
| 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 |
| ENST00000337019 | 163235178 | 163235313 | In-frame |
| ENST00000337019 | 163733810 | 163733927 | 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 |
| ENST00000337019 | 163733810 | 163733927 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PACRG |
| 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 |
| ENST00000337019 | 1636 | 296 | 163235178 | 163235313 | 381 | 515 | 52 | 97 |
| ENST00000337019 | 1636 | 296 | 163733810 | 163733927 | 838 | 954 | 204 | 243 |
| 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 |
| ENST00000337019 | 1636 | 296 | 163733810 | 163733927 | 838 | 954 | 204 | 243 |
| 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 |
| Q96M98 | 52 | 97 | 1 | 296 | Chain | ID=PRO_0000058169;Note=Parkin coregulated gene protein |
| Q96M98 | 52 | 97 | 93 | 93 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96M98 | 204 | 243 | 205 | 243 | Alternative sequence | ID=VSP_010033;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12547187,ECO:0000303|PubMed:15489334;Dbxref=PMID:12547187,PMID:15489334 |
| Q96M98 | 204 | 243 | 1 | 296 | Chain | ID=PRO_0000058169;Note=Parkin coregulated gene protein |
| 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 |
| Q96M98 | 204 | 243 | 205 | 243 | Alternative sequence | ID=VSP_010033;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12547187,ECO:0000303|PubMed:15489334;Dbxref=PMID:12547187,PMID:15489334 |
| Q96M98 | 204 | 243 | 1 | 296 | Chain | ID=PRO_0000058169;Note=Parkin coregulated gene protein |
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SNVs in the skipped exons for PACRG |
| - 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_455372 | 163235179 | 163235313 | 163235273 | 163235273 | Frame_Shift_Del | C | - | p.A84fs |
| COAD | TCGA-D5-6540-01 | exon_skip_455372 | 163235179 | 163235313 | 163235223 | 163235224 | Frame_Shift_Ins | - | A | p.T67fs |
| SKCM | TCGA-3N-A9WC-06 | exon_skip_455372 | 163235179 | 163235313 | 163235239 | 163235239 | Nonsense_Mutation | C | T | p.R73* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_455372 | 163235179 | 163235313 | 163235239 | 163235239 | Nonsense_Mutation | C | T | p.R73* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_455372 | 163235179 | 163235313 | 163235239 | 163235239 | Nonsense_Mutation | C | T | p.R73X |
| GBM | TCGA-32-2634-01 | exon_skip_455372 | 163235179 | 163235313 | 163235309 | 163235309 | Nonsense_Mutation | G | A | p.W96* |
| COAD | TCGA-G4-6586-01 | exon_skip_455374 | 163510291 | 163510440 | 163510305 | 163510305 | Nonsense_Mutation | C | T | p.R160X |
| PAAD | TCGA-FB-AAQ6-01 | exon_skip_455374 | 163510291 | 163510440 | 163510311 | 163510311 | Nonsense_Mutation | C | T | p.R162* |
| UCEC | TCGA-AP-A0LF-01 | exon_skip_455374 | 163510291 | 163510440 | 163510311 | 163510311 | Nonsense_Mutation | C | T | p.R162* |
| LGG | TCGA-DU-6392-01 | exon_skip_455374 | 163510291 | 163510440 | 163510401 | 163510401 | Nonsense_Mutation | C | T | p.Q192* |
| - 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 |
| HEC1A_ENDOMETRIUM | 163149192 | 163149423 | 163149407 | 163149407 | Missense_Mutation | T | C | p.M47T |
| HEC1_ENDOMETRIUM | 163149192 | 163149423 | 163149407 | 163149407 | Missense_Mutation | T | C | p.M47T |
| HEC1B_ENDOMETRIUM | 163149192 | 163149423 | 163149407 | 163149407 | Missense_Mutation | T | C | p.M47T |
| SW13_ADRENAL_CORTEX | 163235179 | 163235313 | 163235194 | 163235194 | Missense_Mutation | G | T | p.A58S |
| KM12_LARGE_INTESTINE | 163235179 | 163235313 | 163235197 | 163235197 | Missense_Mutation | G | A | p.A59T |
| SNU81_LARGE_INTESTINE | 163235179 | 163235313 | 163235240 | 163235240 | Missense_Mutation | G | A | p.R73Q |
| NCIH1648_LUNG | 163235179 | 163235313 | 163235305 | 163235305 | Missense_Mutation | G | T | p.A95S |
| AU565_BREAST | 163510291 | 163510440 | 163510330 | 163510330 | Missense_Mutation | C | T | p.T168I |
| BIN67_OVARY | 163510291 | 163510440 | 163510344 | 163510344 | Missense_Mutation | C | A | p.Q173K |
| HUO3N1_BONE | 163510291 | 163510440 | 163510398 | 163510398 | Missense_Mutation | C | T | p.R191C |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 163510291 | 163510440 | 163510399 | 163510399 | Missense_Mutation | G | A | p.R191H |
| TGBC11TKB_STOMACH | 163510291 | 163510440 | 163510405 | 163510405 | Missense_Mutation | T | A | p.I193N |
| IGROV1_OVARY | 163733811 | 163733927 | 163733835 | 163733835 | Missense_Mutation | A | G | p.E213G |
| GP2D_LARGE_INTESTINE | 163733811 | 163733927 | 163733849 | 163733849 | Missense_Mutation | A | C | p.I218L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PACRG |
| 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 PACRG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PACRG |
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RelatedDrugs for PACRG |
| 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 PACRG |
| 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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