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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 PINK1 |
 Gene summary |
| Gene information | Gene symbol | PINK1 | Gene ID | 65018 |
| Gene name | PTEN induced putative kinase 1 | |
| Synonyms | BRPK|PARK6 | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase PINK1, mitochondrialPTEN-induced putative kinase protein 1protein kinase BRPK | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BXM7 | |
| Context | PubMed: PINK1 [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 |
| PINK1 | GO:0001934 | positive regulation of protein phosphorylation | 25244949 |
| PINK1 | GO:0002082 | regulation of oxidative phosphorylation | 20871098 |
| PINK1 | GO:0006468 | protein phosphorylation | 14607334|21177249|25527291 |
| PINK1 | GO:0018105 | peptidyl-serine phosphorylation | 17579517|19880420 |
| PINK1 | GO:0031396 | regulation of protein ubiquitination | 19880420 |
| PINK1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 21177249 |
| PINK1 | GO:0035556 | intracellular signal transduction | 14607334 |
| PINK1 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 19880420 |
| PINK1 | GO:0043254 | regulation of protein complex assembly | 19880420 |
| PINK1 | GO:1903202 | negative regulation of oxidative stress-induced cell death | 16632486 |
| PINK1 | GO:1903214 | regulation of protein targeting to mitochondrion | 25244949 |
| PINK1 | GO:1903384 | negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway | 21177249 |
| PINK1 | GO:1903751 | negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide | 17579517 |
| PINK1 | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway | 15087508 |
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Exon skipping events across known transcript of Ensembl for PINK1 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 PINK1 |
| 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 PINK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2241 | 1 | 20966384:20966485:20970982:20971165:20972052:20972216 | 20970982:20971165 | ENSG00000158828.5 | ENST00000492302.1,ENST00000321556.4 |
| exon_skip_2242 | 1 | 20970982:20971165:20972052:20972216:20974997:20975125 | 20972052:20972216 | ENSG00000158828.5 | ENST00000492302.1,ENST00000321556.4 |
| exon_skip_2245 | 1 | 20972052:20972216:20974997:20975125:20975487:20975724 | 20974997:20975125 | ENSG00000158828.5 | ENST00000400490.2,ENST00000321556.4 |
| exon_skip_2248 | 1 | 20972052:20972216:20974997:20975724:20976926:20977809 | 20974997:20975724 | ENSG00000158828.5 | ENST00000492302.1 |
| exon_skip_2251 | 1 | 20974997:20975125:20975487:20975724:20976926:20977809 | 20975487:20975724 | ENSG00000158828.5 | ENST00000400490.2,ENST00000321556.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PINK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2241 | 1 | 20966384:20966485:20970982:20971165:20972052:20972216 | 20970982:20971165 | ENSG00000158828.5 | ENST00000321556.4,ENST00000492302.1 |
| exon_skip_2242 | 1 | 20970982:20971165:20972052:20972216:20974997:20975125 | 20972052:20972216 | ENSG00000158828.5 | ENST00000321556.4,ENST00000492302.1 |
| exon_skip_2245 | 1 | 20972052:20972216:20974997:20975125:20975487:20975724 | 20974997:20975125 | ENSG00000158828.5 | ENST00000321556.4,ENST00000400490.2 |
| exon_skip_2248 | 1 | 20972052:20972216:20974997:20975724:20976926:20977809 | 20974997:20975724 | ENSG00000158828.5 | ENST00000492302.1 |
| exon_skip_2251 | 1 | 20974997:20975125:20975487:20975724:20976926:20977809 | 20975487:20975724 | ENSG00000158828.5 | ENST00000321556.4,ENST00000400490.2 |
| 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 PINK1 |
| 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 |
| ENST00000321556 | 20972052 | 20972216 | Frame-shift |
| ENST00000321556 | 20974997 | 20975125 | Frame-shift |
| ENST00000321556 | 20970982 | 20971165 | In-frame |
| ENST00000321556 | 20975487 | 20975724 | 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 |
| ENST00000321556 | 20972052 | 20972216 | Frame-shift |
| ENST00000321556 | 20974997 | 20975125 | Frame-shift |
| ENST00000321556 | 20970982 | 20971165 | In-frame |
| ENST00000321556 | 20975487 | 20975724 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PINK1 |
| 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 |
| ENST00000321556 | 2677 | 581 | 20970982 | 20971165 | 871 | 1053 | 259 | 319 |
| ENST00000321556 | 2677 | 581 | 20975487 | 20975724 | 1346 | 1582 | 417 | 496 |
| 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 |
| ENST00000321556 | 2677 | 581 | 20970982 | 20971165 | 871 | 1053 | 259 | 319 |
| ENST00000321556 | 2677 | 581 | 20975487 | 20975724 | 1346 | 1582 | 417 | 496 |
| 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 |
| Q9BXM7 | 259 | 319 | 1 | 307 | Alternative sequence | ID=VSP_050754;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXM7 | 259 | 319 | 308 | 320 | Alternative sequence | ID=VSP_050755;Note=In isoform 2. LGHGRTLFLVMKN->MCGSQRPSPLSTS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXM7 | 259 | 319 | 78 | 581 | Chain | ID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial |
| Q9BXM7 | 259 | 319 | 156 | 511 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305 |
| Q9BXM7 | 259 | 319 | 263 | 263 | Natural variant | ID=VAR_046583;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610 |
| Q9BXM7 | 259 | 319 | 268 | 268 | Natural variant | ID=VAR_046584;Note=In PARK6. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16207217,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs372280083,PMID:16207217,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 271 | 271 | Natural variant | ID=VAR_046585;Note=In PARK6. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=dbSNP:rs28940284,PMID:15349870 |
| Q9BXM7 | 259 | 319 | 276 | 276 | Natural variant | ID=VAR_046586;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs548506734,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 279 | 279 | Natural variant | ID=VAR_046587;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15970950;Dbxref=dbSNP:rs74315358,PMID:15970950 |
| Q9BXM7 | 259 | 319 | 280 | 280 | Natural variant | ID=VAR_062774;Note=In PARK6%3B early-onset. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16482571;Dbxref=dbSNP:rs772510148,PMID:16482571 |
| Q9BXM7 | 259 | 319 | 296 | 296 | Natural variant | ID=VAR_046588;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs779060308,PMID:15349860,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 305 | 305 | Natural variant | ID=VAR_018993;Note=P->L;Dbxref=dbSNP:rs7349186 |
| Q9BXM7 | 259 | 319 | 309 | 309 | Natural variant | ID=VAR_018994;Note=In PARK6%3B fails to maintain mitochondrial membrane potential%3B full-length mutant has no effect on autophosphorylation%3B strongly reduces interaction with PRKN%3B decreases PRKN and SNCAIP ubiquitination and degradation. G->D;Ontolo |
| Q9BXM7 | 259 | 319 | 313 | 313 | Natural variant | ID=VAR_046589;Note=In PARK6%3B decreases PRKN and SNCAIP ubiquitination and degradation. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17030667,ECO:0000269|PubMed:19229105;Dbxref=dbSNP:rs74315359,PMID:17030667,PMID:19229105 |
| Q9BXM7 | 259 | 319 | 317 | 317 | Natural variant | ID=VAR_046590;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs200949139,PMID:16969854,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 318 | 318 | Natural variant | ID=VAR_046591;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs139226733,PMID:15596610 |
| Q9BXM7 | 259 | 319 | 111 | 581 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXM7 | 417 | 496 | 78 | 581 | Chain | ID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial |
| Q9BXM7 | 417 | 496 | 156 | 511 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305 |
| Q9BXM7 | 417 | 496 | 417 | 417 | Natural variant | ID=VAR_046599;Note=In PARK6. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=PMID:15349870 |
| Q9BXM7 | 417 | 496 | 425 | 425 | Natural variant | ID=VAR_046600;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs554114655,PMID:15596610 |
| Q9BXM7 | 417 | 496 | 431 | 431 | Natural variant | ID=VAR_046601;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs74315361,PMID:16969854 |
| Q9BXM7 | 417 | 496 | 442 | 442 | Natural variant | ID=VAR_046602;Note=I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=PMID:15349860,PMID:18330912 |
| Q9BXM7 | 417 | 496 | 451 | 451 | Natural variant | ID=VAR_046603;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs747400197,PMID:16969854 |
| Q9BXM7 | 417 | 496 | 456 | 581 | Natural variant | ID=VAR_078935;Note=In PARK6. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24652937;Dbxref=PMID:24652937 |
| Q9BXM7 | 417 | 496 | 461 | 461 | Natural variant | ID=VAR_046604;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=PMID:16969854 |
| Q9BXM7 | 417 | 496 | 464 | 464 | Natural variant | ID=VAR_046605;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349860;Dbxref=dbSNP:rs764328076,PMID:15349860 |
| Q9BXM7 | 417 | 496 | 476 | 476 | Natural variant | ID=VAR_046606;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1534 |
| Q9BXM7 | 417 | 496 | 477 | 477 | Natural variant | ID=VAR_041017;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34416410,PMID:17344846 |
| Q9BXM7 | 417 | 496 | 489 | 489 | Natural variant | ID=VAR_046607;Note=In PARK6. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610 |
| Q9BXM7 | 417 | 496 | 419 | 419 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BXM7 | 417 | 496 | 111 | 581 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BXM7 | 259 | 319 | 1 | 307 | Alternative sequence | ID=VSP_050754;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXM7 | 259 | 319 | 308 | 320 | Alternative sequence | ID=VSP_050755;Note=In isoform 2. LGHGRTLFLVMKN->MCGSQRPSPLSTS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXM7 | 259 | 319 | 78 | 581 | Chain | ID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial |
| Q9BXM7 | 259 | 319 | 156 | 511 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305 |
| Q9BXM7 | 259 | 319 | 263 | 263 | Natural variant | ID=VAR_046583;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610 |
| Q9BXM7 | 259 | 319 | 268 | 268 | Natural variant | ID=VAR_046584;Note=In PARK6. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16207217,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs372280083,PMID:16207217,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 271 | 271 | Natural variant | ID=VAR_046585;Note=In PARK6. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=dbSNP:rs28940284,PMID:15349870 |
| Q9BXM7 | 259 | 319 | 276 | 276 | Natural variant | ID=VAR_046586;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs548506734,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 279 | 279 | Natural variant | ID=VAR_046587;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15970950;Dbxref=dbSNP:rs74315358,PMID:15970950 |
| Q9BXM7 | 259 | 319 | 280 | 280 | Natural variant | ID=VAR_062774;Note=In PARK6%3B early-onset. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16482571;Dbxref=dbSNP:rs772510148,PMID:16482571 |
| Q9BXM7 | 259 | 319 | 296 | 296 | Natural variant | ID=VAR_046588;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs779060308,PMID:15349860,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 305 | 305 | Natural variant | ID=VAR_018993;Note=P->L;Dbxref=dbSNP:rs7349186 |
| Q9BXM7 | 259 | 319 | 309 | 309 | Natural variant | ID=VAR_018994;Note=In PARK6%3B fails to maintain mitochondrial membrane potential%3B full-length mutant has no effect on autophosphorylation%3B strongly reduces interaction with PRKN%3B decreases PRKN and SNCAIP ubiquitination and degradation. G->D;Ontolo |
| Q9BXM7 | 259 | 319 | 313 | 313 | Natural variant | ID=VAR_046589;Note=In PARK6%3B decreases PRKN and SNCAIP ubiquitination and degradation. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17030667,ECO:0000269|PubMed:19229105;Dbxref=dbSNP:rs74315359,PMID:17030667,PMID:19229105 |
| Q9BXM7 | 259 | 319 | 317 | 317 | Natural variant | ID=VAR_046590;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs200949139,PMID:16969854,PMID:18330912 |
| Q9BXM7 | 259 | 319 | 318 | 318 | Natural variant | ID=VAR_046591;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs139226733,PMID:15596610 |
| Q9BXM7 | 259 | 319 | 111 | 581 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXM7 | 417 | 496 | 78 | 581 | Chain | ID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial |
| Q9BXM7 | 417 | 496 | 156 | 511 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305 |
| Q9BXM7 | 417 | 496 | 417 | 417 | Natural variant | ID=VAR_046599;Note=In PARK6. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=PMID:15349870 |
| Q9BXM7 | 417 | 496 | 425 | 425 | Natural variant | ID=VAR_046600;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs554114655,PMID:15596610 |
| Q9BXM7 | 417 | 496 | 431 | 431 | Natural variant | ID=VAR_046601;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs74315361,PMID:16969854 |
| Q9BXM7 | 417 | 496 | 442 | 442 | Natural variant | ID=VAR_046602;Note=I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=PMID:15349860,PMID:18330912 |
| Q9BXM7 | 417 | 496 | 451 | 451 | Natural variant | ID=VAR_046603;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs747400197,PMID:16969854 |
| Q9BXM7 | 417 | 496 | 456 | 581 | Natural variant | ID=VAR_078935;Note=In PARK6. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24652937;Dbxref=PMID:24652937 |
| Q9BXM7 | 417 | 496 | 461 | 461 | Natural variant | ID=VAR_046604;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=PMID:16969854 |
| Q9BXM7 | 417 | 496 | 464 | 464 | Natural variant | ID=VAR_046605;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349860;Dbxref=dbSNP:rs764328076,PMID:15349860 |
| Q9BXM7 | 417 | 496 | 476 | 476 | Natural variant | ID=VAR_046606;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1534 |
| Q9BXM7 | 417 | 496 | 477 | 477 | Natural variant | ID=VAR_041017;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34416410,PMID:17344846 |
| Q9BXM7 | 417 | 496 | 489 | 489 | Natural variant | ID=VAR_046607;Note=In PARK6. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610 |
| Q9BXM7 | 417 | 496 | 419 | 419 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BXM7 | 417 | 496 | 111 | 581 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PINK1 |
| - 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. |
PINK1_DLBC_exon_skip_2248_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 |
| BLCA | TCGA-ZF-A9R3-01 | exon_skip_2242 | 20972053 | 20972216 | 20972134 | 20972134 | Frame_Shift_Del | G | - | p.L347fs |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_2248 | 20974998 | 20975724 | 20975644 | 20975644 | Nonsense_Mutation | C | T | p.Q470X |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_2251 | 20975488 | 20975724 | 20975644 | 20975644 | Nonsense_Mutation | C | T | p.Q470X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-GS-A9TW-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_2248 | |
| Skipped exon start: 20974998 | |
| Skipped exon end: 20975724 | |
| Mutation start: 20975644 | |
| Mutation end: 20975644 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q470X | |
| Sample: TCGA-GS-A9TW-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_2251 | |
| Skipped exon start: 20975488 | |
| Skipped exon end: 20975724 | |
| Mutation start: 20975644 | |
| Mutation end: 20975644 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q470X | |
exon_skip_112432_DLBC_TCGA-GS-A9TW-01.png | |
exon_skip_2248_DLBC_TCGA-GS-A9TW-01.png | |
exon_skip_439861_DLBC_TCGA-GS-A9TW-01.png | |
exon_skip_90007_DLBC_TCGA-GS-A9TW-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 |
| HSC39_STOMACH | 20970983 | 20971165 | 20971003 | 20971003 | Missense_Mutation | A | G | p.K266R |
| SKNFI_AUTONOMIC_GANGLIA | 20970983 | 20971165 | 20971110 | 20971110 | Missense_Mutation | C | T | p.R302C |
| 786O_KIDNEY | 20972053 | 20972216 | 20972061 | 20972061 | Missense_Mutation | G | T | p.C323F |
| EW1_BONE | 20972053 | 20972216 | 20972061 | 20972061 | Missense_Mutation | G | A | p.C323Y |
| SNU1040_LARGE_INTESTINE | 20972053 | 20972216 | 20972069 | 20972069 | Missense_Mutation | C | T | p.R326C |
| JIMT1_BREAST | 20972053 | 20972216 | 20972141 | 20972141 | Missense_Mutation | G | A | p.V350M |
| CAL148_BREAST | 20972053 | 20972216 | 20972199 | 20972199 | Missense_Mutation | T | C | p.L369P |
| TT2609C02_THYROID | 20974998 | 20975724 | 20975070 | 20975070 | Missense_Mutation | C | T | p.P399L |
| TT2609C02_THYROID | 20974998 | 20975125 | 20975070 | 20975070 | Missense_Mutation | C | T | p.P399L |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20974998 | 20975724 | 20975108 | 20975108 | Missense_Mutation | T | C | p.C412R |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20974998 | 20975125 | 20975108 | 20975108 | Missense_Mutation | T | C | p.C412R |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20974998 | 20975724 | 20975500 | 20975500 | Missense_Mutation | C | T | p.R422C |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20975488 | 20975724 | 20975500 | 20975500 | Missense_Mutation | C | T | p.R422C |
| HEC59_ENDOMETRIUM | 20974998 | 20975724 | 20975560 | 20975560 | Missense_Mutation | A | G | p.I442V |
| HEC59_ENDOMETRIUM | 20975488 | 20975724 | 20975560 | 20975560 | Missense_Mutation | A | G | p.I442V |
| SNU1040_LARGE_INTESTINE | 20974998 | 20975724 | 20975563 | 20975563 | Missense_Mutation | G | A | p.A443T |
| SNU1040_LARGE_INTESTINE | 20975488 | 20975724 | 20975563 | 20975563 | Missense_Mutation | G | A | p.A443T |
| SJSA1_BONE | 20974998 | 20975724 | 20975564 | 20975564 | Missense_Mutation | C | T | p.A443V |
| SJSA1_BONE | 20975488 | 20975724 | 20975564 | 20975564 | Missense_Mutation | C | T | p.A443V |
| CW2_LARGE_INTESTINE | 20974998 | 20975724 | 20975575 | 20975575 | Missense_Mutation | T | C | p.F447L |
| CW2_LARGE_INTESTINE | 20975488 | 20975724 | 20975575 | 20975575 | Missense_Mutation | T | C | p.F447L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20974998 | 20975724 | 20975642 | 20975642 | Missense_Mutation | C | T | p.A469V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20975488 | 20975724 | 20975642 | 20975642 | Missense_Mutation | C | T | p.A469V |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20974998 | 20975724 | 20975680 | 20975680 | Missense_Mutation | G | A | p.V482M |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20975488 | 20975724 | 20975680 | 20975680 | Missense_Mutation | G | A | p.V482M |
| TE10_OESOPHAGUS | 20974998 | 20975724 | 20975680 | 20975680 | Missense_Mutation | G | A | p.V482M |
| TE10_OESOPHAGUS | 20975488 | 20975724 | 20975680 | 20975680 | Missense_Mutation | G | A | p.V482M |
| RL952_ENDOMETRIUM | 20974998 | 20975724 | 20975710 | 20975710 | Nonsense_Mutation | C | T | p.R492* |
| RL952_ENDOMETRIUM | 20975488 | 20975724 | 20975710 | 20975710 | Nonsense_Mutation | C | T | p.R492* |
| SNUC2A_LARGE_INTESTINE | 20974998 | 20975724 | 20974999 | 20974999 | Splice_Site | C | T | p.D375D |
| SNUC2A_LARGE_INTESTINE | 20974998 | 20975125 | 20974999 | 20974999 | Splice_Site | C | T | p.D375D |
| SNUC2B_LARGE_INTESTINE | 20974998 | 20975724 | 20974999 | 20974999 | Splice_Site | C | T | p.D375D |
| SNUC2B_LARGE_INTESTINE | 20974998 | 20975125 | 20974999 | 20974999 | Splice_Site | C | T | p.D375D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PINK1 |
| 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 PINK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PINK1 |
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RelatedDrugs for PINK1 |
| 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 PINK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PINK1 | C1853833 | Parkinson Disease 6, Autosomal Recessive Early-Onset | 17 | CTD_human;UNIPROT |
| PINK1 | C0030567 | Parkinson Disease | 5 | CTD_human |
| PINK1 | C0242422 | Parkinsonian Disorders | 4 | CTD_human |
| PINK1 | C0036341 | Schizophrenia | 3 | PSYGENET |
| PINK1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| PINK1 | C0027819 | Neuroblastoma | 1 | CTD_human |
| PINK1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| PINK1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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