|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for PARK7 |
 Gene summary |
| Gene information | Gene symbol | PARK7 | Gene ID | 11315 |
| Gene name | Parkinsonism associated deglycase | |
| Synonyms | DJ-1|DJ1|GATD2|HEL-S-67p | |
| Cytomap | 1p36.23 | |
| Type of gene | protein-coding | |
| Description | protein/nucleic acid deglycase DJ-1Parkinson disease (autosomal recessive, early onset) 7epididymis secretory sperm binding protein Li 67pmaillard deglycaseoncogene DJ1parkinson protein 7protein DJ-1protein deglycase DJ-1 | |
| Modification date | 20180527 | |
| UniProtAcc | Q99497 | |
| Context | PubMed: PARK7 [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 |
| PARK7 | GO:0006281 | DNA repair | 28596309 |
| PARK7 | GO:0006517 | protein deglycosylation | 25416785 |
| PARK7 | GO:0006517 | protein deglycosylation | 27903648 |
| PARK7 | GO:0009438 | methylglyoxal metabolic process | 22523093 |
| PARK7 | GO:0009438 | methylglyoxal metabolic process | 27903648 |
| PARK7 | GO:0010629 | negative regulation of gene expression | 22683601 |
| PARK7 | GO:0019249 | lactate biosynthetic process | 22523093 |
| PARK7 | GO:0031397 | negative regulation of protein ubiquitination | 17015834|24899725 |
| PARK7 | GO:0032091 | negative regulation of protein binding | 11477070|16731528|17015834|24899725 |
| PARK7 | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 17015834 |
| PARK7 | GO:0032757 | positive regulation of interleukin-8 production | 21097510 |
| PARK7 | GO:0033234 | negative regulation of protein sumoylation | 16731528 |
| PARK7 | GO:0034599 | cellular response to oxidative stress | 15983381|19703902|20969476|22683601 |
| PARK7 | GO:0036471 | cellular response to glyoxal | 22523093 |
| PARK7 | GO:0036526 | peptidyl-cysteine deglycation | 25416785 |
| PARK7 | GO:0036527 | peptidyl-arginine deglycation | 25416785 |
| PARK7 | GO:0036528 | peptidyl-lysine deglycation | 25416785 |
| PARK7 | GO:0036529 | protein deglycation, glyoxal removal | 25416785 |
| PARK7 | GO:0036530 | protein deglycation, methylglyoxal removal | 25416785 |
| PARK7 | GO:0036530 | protein deglycation, methylglyoxal removal | 27903648 |
| PARK7 | GO:0036531 | glutathione deglycation | 25416785 |
| PARK7 | GO:0042743 | hydrogen peroxide metabolic process | 20969476|24567322 |
| PARK7 | GO:0043066 | negative regulation of apoptotic process | 22523093 |
| PARK7 | GO:0043523 | regulation of neuron apoptotic process | 18711745|20304780 |
| PARK7 | GO:0043524 | negative regulation of neuron apoptotic process | 22511790 |
| PARK7 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21097510 |
| PARK7 | GO:0046295 | glycolate biosynthetic process | 22523093 |
| PARK7 | GO:0050821 | protein stabilization | 24947010 |
| PARK7 | GO:0051444 | negative regulation of ubiquitin-protein transferase activity | 24899725 |
| PARK7 | GO:0060548 | negative regulation of cell death | 14749723 |
| PARK7 | GO:0060765 | regulation of androgen receptor signaling pathway | 11477070 |
| PARK7 | GO:0070301 | cellular response to hydrogen peroxide | 14749723 |
| PARK7 | GO:0090073 | positive regulation of protein homodimerization activity | 24947010 |
| PARK7 | GO:0106044 | guanine deglycation | 28596309 |
| PARK7 | GO:0106045 | guanine deglycation, methylglyoxal removal | 28596309 |
| PARK7 | GO:0106046 | guanine deglycation, glyoxal removal | 28596309 |
| PARK7 | GO:1900182 | positive regulation of protein localization to nucleus | 21097510 |
| PARK7 | GO:1901215 | negative regulation of neuron death | 22683601 |
| PARK7 | GO:1901671 | positive regulation of superoxide dismutase activity | 24567322 |
| PARK7 | GO:1901984 | negative regulation of protein acetylation | 22683601 |
| PARK7 | GO:1903094 | negative regulation of protein K48-linked deubiquitination | 21097510 |
| PARK7 | GO:1903168 | positive regulation of pyrroline-5-carboxylate reductase activity | 23743200 |
| PARK7 | GO:1903178 | positive regulation of tyrosine 3-monooxygenase activity | 19703902 |
| PARK7 | GO:1903181 | positive regulation of dopamine biosynthetic process | 19703902 |
| PARK7 | GO:1903189 | glyoxal metabolic process | 22523093 |
| PARK7 | GO:1903200 | positive regulation of L-dopa decarboxylase activity | 19703902 |
| PARK7 | GO:1903202 | negative regulation of oxidative stress-induced cell death | 16632486 |
| PARK7 | GO:1903208 | negative regulation of hydrogen peroxide-induced neuron death | 15983381|24947010 |
| PARK7 | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 15790595 |
| PARK7 | GO:1905259 | negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway | 14752510 |
| PARK7 | GO:2000157 | negative regulation of ubiquitin-specific protease activity | 21097510 |
Top |
Exon skipping events across known transcript of Ensembl for PARK7 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. |
 |
Top |
Gene isoform structures and expression levels for PARK7 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PARK7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_919 | 1 | 8021760:8021795:8022822:8022935:8025383:8025485 | 8022822:8022935 | ENSG00000116288.8 | ENST00000460192.1,ENST00000377493.5,ENST00000493678.1 |
| exon_skip_923 | 1 | 8022826:8022935:8025383:8025485:8029404:8029464 | 8025383:8025485 | ENSG00000116288.8 | ENST00000493373.1,ENST00000377488.1,ENST00000377491.1,ENST00000338639.5,ENST00000465354.1,ENST00000493678.1,ENST00000497113.1 |
| exon_skip_924 | 1 | 8022826:8022935:8025383:8025485:8030953:8031023 | 8025383:8025485 | ENSG00000116288.8 | ENST00000377493.5 |
| exon_skip_931 | 1 | 8025410:8025485:8029144:8029208:8029404:8029464 | 8029144:8029208 | ENSG00000116288.8 | ENST00000460192.1 |
| exon_skip_932 | 1 | 8025410:8025485:8029404:8029464:8030953:8031023 | 8029404:8029464 | ENSG00000116288.8 | ENST00000469225.1,ENST00000493373.1,ENST00000377488.1,ENST00000377491.1,ENST00000338639.5,ENST00000465354.1,ENST00000493678.1,ENST00000497113.1 |
| exon_skip_936 | 1 | 8025410:8025485:8030953:8031023:8037711:8037798 | 8030953:8031023 | ENSG00000116288.8 | ENST00000377493.5 |
| exon_skip_945 | 1 | 8029404:8029464:8030953:8031023:8037711:8037798 | 8030953:8031023 | ENSG00000116288.8 | ENST00000469225.1,ENST00000493373.1,ENST00000377488.1,ENST00000377491.1,ENST00000338639.5,ENST00000493678.1 |
| exon_skip_948 | 1 | 8030953:8031023:8037711:8037798:8044953:8045112 | 8037711:8037798 | ENSG00000116288.8 | ENST00000377493.5,ENST00000493373.1,ENST00000377488.1,ENST00000377491.1,ENST00000338639.5,ENST00000493678.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PARK7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_919 | 1 | 8021760:8021795:8022822:8022935:8025383:8025485 | 8022822:8022935 | ENSG00000116288.8 | ENST00000460192.1,ENST00000493678.1,ENST00000377493.5 |
| exon_skip_923 | 1 | 8022826:8022935:8025383:8025485:8029404:8029464 | 8025383:8025485 | ENSG00000116288.8 | ENST00000493373.1,ENST00000338639.5,ENST00000493678.1,ENST00000465354.1,ENST00000377491.1,ENST00000377488.1,ENST00000497113.1 |
| exon_skip_924 | 1 | 8022826:8022935:8025383:8025485:8030953:8031023 | 8025383:8025485 | ENSG00000116288.8 | ENST00000377493.5 |
| exon_skip_932 | 1 | 8025410:8025485:8029404:8029464:8030953:8031023 | 8029404:8029464 | ENSG00000116288.8 | ENST00000493373.1,ENST00000338639.5,ENST00000493678.1,ENST00000465354.1,ENST00000377491.1,ENST00000377488.1,ENST00000497113.1,ENST00000469225.1 |
| exon_skip_936 | 1 | 8025410:8025485:8030953:8031023:8037711:8037798 | 8030953:8031023 | ENSG00000116288.8 | ENST00000377493.5 |
| exon_skip_945 | 1 | 8029404:8029464:8030953:8031023:8037711:8037798 | 8030953:8031023 | ENSG00000116288.8 | ENST00000493373.1,ENST00000338639.5,ENST00000493678.1,ENST00000377491.1,ENST00000377488.1,ENST00000469225.1 |
| exon_skip_948 | 1 | 8030953:8031023:8037711:8037798:8044953:8045112 | 8037711:8037798 | ENSG00000116288.8 | ENST00000493373.1,ENST00000338639.5,ENST00000493678.1,ENST00000377493.5,ENST00000377491.1,ENST00000377488.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PARK7 |
| 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 |
| ENST00000493678 | 8022822 | 8022935 | 5CDS-5UTR |
| ENST00000338639 | 8030953 | 8031023 | Frame-shift |
| ENST00000377488 | 8030953 | 8031023 | Frame-shift |
| ENST00000377491 | 8030953 | 8031023 | Frame-shift |
| ENST00000493678 | 8030953 | 8031023 | Frame-shift |
| ENST00000338639 | 8025383 | 8025485 | In-frame |
| ENST00000377488 | 8025383 | 8025485 | In-frame |
| ENST00000377491 | 8025383 | 8025485 | In-frame |
| ENST00000493678 | 8025383 | 8025485 | In-frame |
| ENST00000338639 | 8029404 | 8029464 | In-frame |
| ENST00000377488 | 8029404 | 8029464 | In-frame |
| ENST00000377491 | 8029404 | 8029464 | In-frame |
| ENST00000493678 | 8029404 | 8029464 | In-frame |
| ENST00000338639 | 8037711 | 8037798 | In-frame |
| ENST00000377488 | 8037711 | 8037798 | In-frame |
| ENST00000377491 | 8037711 | 8037798 | In-frame |
| ENST00000493678 | 8037711 | 8037798 | 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 |
| ENST00000493678 | 8022822 | 8022935 | 5CDS-5UTR |
| ENST00000338639 | 8030953 | 8031023 | Frame-shift |
| ENST00000377488 | 8030953 | 8031023 | Frame-shift |
| ENST00000377491 | 8030953 | 8031023 | Frame-shift |
| ENST00000493678 | 8030953 | 8031023 | Frame-shift |
| ENST00000338639 | 8025383 | 8025485 | In-frame |
| ENST00000377488 | 8025383 | 8025485 | In-frame |
| ENST00000377491 | 8025383 | 8025485 | In-frame |
| ENST00000493678 | 8025383 | 8025485 | In-frame |
| ENST00000338639 | 8029404 | 8029464 | In-frame |
| ENST00000377488 | 8029404 | 8029464 | In-frame |
| ENST00000377491 | 8029404 | 8029464 | In-frame |
| ENST00000493678 | 8029404 | 8029464 | In-frame |
| ENST00000338639 | 8037711 | 8037798 | In-frame |
| ENST00000377488 | 8037711 | 8037798 | In-frame |
| ENST00000377491 | 8037711 | 8037798 | In-frame |
| ENST00000493678 | 8037711 | 8037798 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PARK7 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000338639 | 966 | 189 | 8025383 | 8025485 | 245 | 346 | 30 | 64 |
| ENST00000377488 | 800 | 189 | 8025383 | 8025485 | 247 | 348 | 30 | 64 |
| ENST00000377491 | 994 | 189 | 8025383 | 8025485 | 302 | 403 | 30 | 64 |
| ENST00000493678 | 1105 | 189 | 8025383 | 8025485 | 158 | 259 | 30 | 64 |
| ENST00000338639 | 966 | 189 | 8029404 | 8029464 | 347 | 406 | 64 | 84 |
| ENST00000377488 | 800 | 189 | 8029404 | 8029464 | 349 | 408 | 64 | 84 |
| ENST00000377491 | 994 | 189 | 8029404 | 8029464 | 404 | 463 | 64 | 84 |
| ENST00000493678 | 1105 | 189 | 8029404 | 8029464 | 260 | 319 | 64 | 84 |
| ENST00000338639 | 966 | 189 | 8037711 | 8037798 | 477 | 563 | 107 | 136 |
| ENST00000377488 | 800 | 189 | 8037711 | 8037798 | 479 | 565 | 107 | 136 |
| ENST00000377491 | 994 | 189 | 8037711 | 8037798 | 534 | 620 | 107 | 136 |
| ENST00000493678 | 1105 | 189 | 8037711 | 8037798 | 390 | 476 | 107 | 136 |
| 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 |
| ENST00000338639 | 966 | 189 | 8025383 | 8025485 | 245 | 346 | 30 | 64 |
| ENST00000377488 | 800 | 189 | 8025383 | 8025485 | 247 | 348 | 30 | 64 |
| ENST00000377491 | 994 | 189 | 8025383 | 8025485 | 302 | 403 | 30 | 64 |
| ENST00000493678 | 1105 | 189 | 8025383 | 8025485 | 158 | 259 | 30 | 64 |
| ENST00000338639 | 966 | 189 | 8029404 | 8029464 | 347 | 406 | 64 | 84 |
| ENST00000377488 | 800 | 189 | 8029404 | 8029464 | 349 | 408 | 64 | 84 |
| ENST00000377491 | 994 | 189 | 8029404 | 8029464 | 404 | 463 | 64 | 84 |
| ENST00000493678 | 1105 | 189 | 8029404 | 8029464 | 260 | 319 | 64 | 84 |
| ENST00000338639 | 966 | 189 | 8037711 | 8037798 | 477 | 563 | 107 | 136 |
| ENST00000377488 | 800 | 189 | 8037711 | 8037798 | 479 | 565 | 107 | 136 |
| ENST00000377491 | 994 | 189 | 8037711 | 8037798 | 534 | 620 | 107 | 136 |
| ENST00000493678 | 1105 | 189 | 8037711 | 8037798 | 390 | 476 | 107 | 136 |
| 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 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| 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 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 32 | 37 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 47 | 49 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N0M |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 51 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OR3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 55 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 58 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 53 | 53 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23847046;Dbxref=PMID:23847046 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduced localization in lipid rafts%3B when associated with A-106. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:2384 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=Reduces protein stability. No effect on oxidation. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:0000269|PubMed:23847046;Dbxref=PMID |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 46 | 46 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:18711745,ECO:00 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 51 | 51 | Mutagenesis | Note=Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749723;Dbxref=PMID:14749723 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide. C->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:000026 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 53 | 53 | Mutagenesis | Note=No effect on mitochondrial translocation neither on deglycase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200,ECO:0000269|PubMed:15502874,ECO:00 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 39 | 39 | Natural variant | ID=VAR_072589;Note=Probable disease-associated mutation found in early-onset Parkinson disease with digenic inheritance%3B the patient also carries PINK1 mutation L-399. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16632486;Dbxref=dbSNP:rs13 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 30 | 64 | 38 | 41 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PDW |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 76 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 67 | 67 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 64 | 84 | 64 | 64 | Natural variant | ID=VAR_020493;Note=In PARK7%3B no apparent effect on protein stability%3B impaired mitochondrial morphology. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14607841,ECO:0000269|PubMed:15365989,ECO:0000269|PubMed:2018633 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 126 | 126 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20304780;Dbxref=PMID:20304780 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 130 | 130 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15976810;Dbxref=PMID:15976810 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 109 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 127 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 130 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 126 | 126 | Mutagenesis | Note=Strongly decreases enzymatic activity. H->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:22523093;Dbxref=PMID:20304780,PMID:22523093 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 130 | 130 | Mutagenesis | Note=Partially compensates for loss of stability%3B when associated with P-166. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12851414;Dbxref=PMID:12851414 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 119 | 119 | Sequence conflict | Note=F->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 106 | 108 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
| Q99497 | 107 | 136 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RK3 |
Top |
SNVs in the skipped exons for PARK7 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| COAD | TCGA-AA-3492-01 | exon_skip_924 exon_skip_923 | 8025384 | 8025485 | 8025476 | 8025476 | Frame_Shift_Del | A | - | p.A61fs |
| STAD | TCGA-CG-5726-01 | exon_skip_924 exon_skip_923 | 8025384 | 8025485 | 8025475 | 8025476 | Frame_Shift_Ins | - | A | p.A61fs |
| STAD | TCGA-CG-5726-01 | exon_skip_924 exon_skip_923 | 8025384 | 8025485 | 8025476 | 8025477 | Frame_Shift_Ins | - | A | p.A61fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_932 | 8029405 | 8029464 | 8029466 | 8029467 | Splice_Site | - | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CG-5726-01 |
| Cancer type: STAD | |
| ESID: exon_skip_923 | |
| Skipped exon start: 8025384 | |
| Skipped exon end: 8025485 | |
| Mutation start: 8025475 | |
| Mutation end: 8025476 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.A61fs | |
| Sample: TCGA-CG-5726-01 |
| Cancer type: STAD | |
| ESID: exon_skip_923 | |
| Skipped exon start: 8025384 | |
| Skipped exon end: 8025485 | |
| Mutation start: 8025476 | |
| Mutation end: 8025477 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.A61fs | |
exon_skip_111498_STAD_TCGA-CG-5726-01.png | |
exon_skip_1165_STAD_TCGA-CG-5726-01.png | |
exon_skip_132841_STAD_TCGA-CG-5726-01.png | |
exon_skip_32368_STAD_TCGA-CG-5726-01.png | |
exon_skip_32369_STAD_TCGA-CG-5726-01.png | |
exon_skip_330351_STAD_TCGA-CG-5726-01.png | |
exon_skip_368289_STAD_TCGA-CG-5726-01.png | |
exon_skip_439047_STAD_TCGA-CG-5726-01.png | |
exon_skip_439048_STAD_TCGA-CG-5726-01.png | |
exon_skip_440332_STAD_TCGA-CG-5726-01.png | |
exon_skip_444132_STAD_TCGA-CG-5726-01.png | |
exon_skip_462138_STAD_TCGA-CG-5726-01.png | |
exon_skip_462144_STAD_TCGA-CG-5726-01.png | |
exon_skip_464954_STAD_TCGA-CG-5726-01.png | |
exon_skip_49506_STAD_TCGA-CG-5726-01.png | |
exon_skip_70838_STAD_TCGA-CG-5726-01.png | |
exon_skip_924_STAD_TCGA-CG-5726-01.png | |
exon_skip_94969_STAD_TCGA-CG-5726-01.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 |
| NCIH630_LARGE_INTESTINE | 8025384 | 8025485 | 8025475 | 8025476 | Frame_Shift_Ins | - | A | p.AK61fs |
| OVKATE_OVARY | 8025384 | 8025485 | 8025400 | 8025400 | Missense_Mutation | C | A | p.A36E |
| SNU1_STOMACH | 8022823 | 8022935 | 8022927 | 8022927 | Nonsense_Mutation | C | T | p.R28* |
| HCC2814_LUNG | 8029405 | 8029464 | 8029462 | 8029462 | Nonsense_Mutation | G | T | p.E84* |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8030954 | 8031023 | 8030955 | 8030955 | Splice_Site | C | G | p.S85C |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PARK7 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARK7 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARK7 |
Top |
RelatedDrugs for PARK7 |
| 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 |
Top |
RelatedDiseases for PARK7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PARK7 | C0030567 | Parkinson Disease | 9 | CTD_human |
| PARK7 | C1853445 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET | 4 | CTD_human;UNIPROT |
| PARK7 | C0029456 | Osteoporosis | 1 | CTD_human |
| PARK7 | C0206160 | Reticulocytosis | 1 | CTD_human |
| PARK7 | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
| PARK7 | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| PARK7 | C2239176 | Liver carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|