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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 LRRK2 |
 Gene summary |
| Gene information | Gene symbol | LRRK2 | Gene ID | 120892 |
| Gene name | leucine rich repeat kinase 2 | |
| Synonyms | AURA17|DARDARIN|PARK8|RIPK7|ROCO2 | |
| Cytomap | 12q12 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat serine/threonine-protein kinase 2augmented in rheumatoid arthritis 17 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5S007 | |
| Context | PubMed: LRRK2 [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 |
| LRRK2 | GO:0000165 | MAPK cascade | 17200152 |
| LRRK2 | GO:0000186 | activation of MAPKK activity | 19302196 |
| LRRK2 | GO:0001934 | positive regulation of protein phosphorylation | 22012985 |
| LRRK2 | GO:0006468 | protein phosphorylation | 25500533 |
| LRRK2 | GO:0010955 | negative regulation of protein processing | 21370995 |
| LRRK2 | GO:0018105 | peptidyl-serine phosphorylation | 19576176 |
| LRRK2 | GO:0018107 | peptidyl-threonine phosphorylation | 21048939 |
| LRRK2 | GO:0031398 | positive regulation of protein ubiquitination | 16352719|20173330 |
| LRRK2 | GO:0032092 | positive regulation of protein binding | 21370995 |
| LRRK2 | GO:0034260 | negative regulation of GTPase activity | 22423108 |
| LRRK2 | GO:0043068 | positive regulation of programmed cell death | 17200152 |
| LRRK2 | GO:0046039 | GTP metabolic process | 21048939 |
| LRRK2 | GO:0046777 | protein autophosphorylation | 16269541|16321986|17200152|17442267 |
| LRRK2 | GO:1902499 | positive regulation of protein autoubiquitination | 16352719 |
| LRRK2 | GO:1903125 | negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation | 21850687 |
| LRRK2 | GO:1903215 | negative regulation of protein targeting to mitochondrion | 21370995 |
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Exon skipping events across known transcript of Ensembl for LRRK2 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 LRRK2 |
| 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 LRRK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_81423 | 12 | 40618875:40619084:40619356:40619442:40626075:40626185 | 40619356:40619442 | ENSG00000188906.9 | ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81424 | 12 | 40619396:40619442:40626075:40626185:40629427:40629516 | 40626075:40626185 | ENSG00000188906.9 | ENST00000416796.1,ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81425 | 12 | 40629427:40629516:40631770:40631905:40634284:40634419 | 40631770:40631905 | ENSG00000188906.9 | ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81427 | 12 | 40631848:40631905:40634284:40634419:40637351:40637483 | 40634284:40634419 | ENSG00000188906.9 | ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81429 | 12 | 40634284:40634419:40637351:40637483:40643627:40643747 | 40637351:40637483 | ENSG00000188906.9 | ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81432 | 12 | 40646766:40646818:40651049:40651179:40653281:40653406 | 40651049:40651179 | ENSG00000188906.9 | ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81435 | 12 | 40646766:40646818:40653281:40653406:40657590:40657703 | 40653281:40653406 | ENSG00000188906.9 | ENST00000416796.1 |
| exon_skip_81436 | 12 | 40653281:40653406:40657590:40657703:40668384:40668529 | 40657590:40657703 | ENSG00000188906.9 | ENST00000416796.1,ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81439 | 12 | 40688646:40688716:40689228:40689446:40692044:40692295 | 40689228:40689446 | ENSG00000188906.9 | ENST00000298910.7,ENST00000343742.2 |
| exon_skip_81442 | 12 | 40692910:40693059:40694614:40694866:40696590:40696684 | 40694614:40694866 | ENSG00000188906.9 | ENST00000430804.1 |
| exon_skip_81444 | 12 | 40697749:40697936:40699586:40699768:40702268:40702498 | 40699586:40699768 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81447 | 12 | 40704232:40704451:40707773:40707975:40709013:40709102 | 40707773:40707975 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81450 | 12 | 40706515:40706710:40707773:40707975:40709013:40709102 | 40707773:40707975 | ENSG00000188906.9 | ENST00000481256.1 |
| exon_skip_81453 | 12 | 40709013:40709102:40713789:40713977:40714835:40714990 | 40713789:40713977 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81455 | 12 | 40728768:40728959:40734095:40734256:40740554:40740725 | 40734095:40734256 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81460 | 12 | 40740554:40740725:40742210:40742311:40745340:40745535 | 40742210:40742311 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81461 | 12 | 40742210:40742311:40745340:40745535:40748100:40748294 | 40745340:40745535 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81462 | 12 | 40745340:40745535:40748100:40748294:40749916:40749989 | 40748100:40748294 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81463 | 12 | 40748100:40748294:40749916:40749989:40753061:40753246 | 40749916:40749989 | ENSG00000188906.9 | ENST00000298910.7,ENST00000479187.1,ENST00000430804.1 |
| exon_skip_81472 | 12 | 40758643:40758852:40760807:40760879:40761445:40761563 | 40760807:40760879 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_81423 | 12 | 40618875:40619084:40619356:40619442:40626075:40626185 | 40619356:40619442 | ENSG00000188906.9 | ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81424 | 12 | 40619396:40619442:40626075:40626185:40629427:40629516 | 40626075:40626185 | ENSG00000188906.9 | ENST00000416796.1,ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81425 | 12 | 40629427:40629516:40631770:40631905:40634284:40634419 | 40631770:40631905 | ENSG00000188906.9 | ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81427 | 12 | 40631848:40631905:40634284:40634419:40637351:40637483 | 40634284:40634419 | ENSG00000188906.9 | ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81429 | 12 | 40634284:40634419:40637351:40637483:40643627:40643747 | 40637351:40637483 | ENSG00000188906.9 | ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81432 | 12 | 40646766:40646818:40651049:40651179:40653281:40653406 | 40651049:40651179 | ENSG00000188906.9 | ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81435 | 12 | 40646766:40646818:40653281:40653406:40657590:40657703 | 40653281:40653406 | ENSG00000188906.9 | ENST00000416796.1 |
| exon_skip_81436 | 12 | 40653281:40653406:40657590:40657703:40668384:40668529 | 40657590:40657703 | ENSG00000188906.9 | ENST00000416796.1,ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81439 | 12 | 40688646:40688716:40689228:40689446:40692044:40692295 | 40689228:40689446 | ENSG00000188906.9 | ENST00000343742.2,ENST00000298910.7 |
| exon_skip_81442 | 12 | 40692910:40693059:40694614:40694866:40696590:40696684 | 40694614:40694866 | ENSG00000188906.9 | ENST00000430804.1 |
| exon_skip_81444 | 12 | 40697749:40697936:40699586:40699768:40702268:40702498 | 40699586:40699768 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81447 | 12 | 40704232:40704451:40707773:40707975:40709013:40709102 | 40707773:40707975 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81450 | 12 | 40706515:40706710:40707773:40707975:40709013:40709102 | 40707773:40707975 | ENSG00000188906.9 | ENST00000481256.1 |
| exon_skip_81453 | 12 | 40709013:40709102:40713789:40713977:40714835:40714990 | 40713789:40713977 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81455 | 12 | 40728768:40728959:40734095:40734256:40740554:40740725 | 40734095:40734256 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81460 | 12 | 40740554:40740725:40742210:40742311:40745340:40745535 | 40742210:40742311 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81461 | 12 | 40742210:40742311:40745340:40745535:40748100:40748294 | 40745340:40745535 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81462 | 12 | 40745340:40745535:40748100:40748294:40749916:40749989 | 40748100:40748294 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81463 | 12 | 40748100:40748294:40749916:40749989:40753061:40753246 | 40749916:40749989 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1,ENST00000479187.1 |
| exon_skip_81472 | 12 | 40758643:40758852:40760807:40760879:40761445:40761563 | 40760807:40760879 | ENSG00000188906.9 | ENST00000298910.7,ENST00000430804.1 |
| 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 LRRK2 |
| 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 |
| ENST00000298910 | 40619356 | 40619442 | Frame-shift |
| ENST00000298910 | 40626075 | 40626185 | Frame-shift |
| ENST00000298910 | 40651049 | 40651179 | Frame-shift |
| ENST00000298910 | 40657590 | 40657703 | Frame-shift |
| ENST00000298910 | 40689228 | 40689446 | Frame-shift |
| ENST00000298910 | 40699586 | 40699768 | Frame-shift |
| ENST00000298910 | 40707773 | 40707975 | Frame-shift |
| ENST00000298910 | 40713789 | 40713977 | Frame-shift |
| ENST00000298910 | 40734095 | 40734256 | Frame-shift |
| ENST00000298910 | 40742210 | 40742311 | Frame-shift |
| ENST00000298910 | 40748100 | 40748294 | Frame-shift |
| ENST00000298910 | 40749916 | 40749989 | Frame-shift |
| ENST00000298910 | 40631770 | 40631905 | In-frame |
| ENST00000298910 | 40634284 | 40634419 | In-frame |
| ENST00000298910 | 40637351 | 40637483 | In-frame |
| ENST00000298910 | 40745340 | 40745535 | In-frame |
| ENST00000298910 | 40760807 | 40760879 | 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 |
| ENST00000298910 | 40619356 | 40619442 | Frame-shift |
| ENST00000298910 | 40626075 | 40626185 | Frame-shift |
| ENST00000298910 | 40651049 | 40651179 | Frame-shift |
| ENST00000298910 | 40657590 | 40657703 | Frame-shift |
| ENST00000298910 | 40689228 | 40689446 | Frame-shift |
| ENST00000298910 | 40699586 | 40699768 | Frame-shift |
| ENST00000298910 | 40707773 | 40707975 | Frame-shift |
| ENST00000298910 | 40713789 | 40713977 | Frame-shift |
| ENST00000298910 | 40734095 | 40734256 | Frame-shift |
| ENST00000298910 | 40742210 | 40742311 | Frame-shift |
| ENST00000298910 | 40748100 | 40748294 | Frame-shift |
| ENST00000298910 | 40749916 | 40749989 | Frame-shift |
| ENST00000298910 | 40631770 | 40631905 | In-frame |
| ENST00000298910 | 40634284 | 40634419 | In-frame |
| ENST00000298910 | 40637351 | 40637483 | In-frame |
| ENST00000298910 | 40745340 | 40745535 | In-frame |
| ENST00000298910 | 40760807 | 40760879 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRK2 |
| 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 |
| ENST00000298910 | 9175 | 2527 | 40631770 | 40631905 | 495 | 629 | 145 | 190 |
| ENST00000298910 | 9175 | 2527 | 40634284 | 40634419 | 630 | 764 | 190 | 235 |
| ENST00000298910 | 9175 | 2527 | 40637351 | 40637483 | 765 | 896 | 235 | 279 |
| ENST00000298910 | 9175 | 2527 | 40745340 | 40745535 | 6440 | 6634 | 2127 | 2192 |
| ENST00000298910 | 9175 | 2527 | 40760807 | 40760879 | 7449 | 7520 | 2463 | 2487 |
| 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 |
| ENST00000298910 | 9175 | 2527 | 40631770 | 40631905 | 495 | 629 | 145 | 190 |
| ENST00000298910 | 9175 | 2527 | 40634284 | 40634419 | 630 | 764 | 190 | 235 |
| ENST00000298910 | 9175 | 2527 | 40637351 | 40637483 | 765 | 896 | 235 | 279 |
| ENST00000298910 | 9175 | 2527 | 40745340 | 40745535 | 6440 | 6634 | 2127 | 2192 |
| ENST00000298910 | 9175 | 2527 | 40760807 | 40760879 | 7449 | 7520 | 2463 | 2487 |
| 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 |
| Q5S007 | 145 | 190 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 190 | 235 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 190 | 235 | 228 | 228 | Natural variant | ID=VAR_054740;Note=C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs56108242,PMID:18213618 |
| Q5S007 | 190 | 235 | 212 | 212 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5S007 | 235 | 279 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 2127 | 2192 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 2127 | 2192 | 1879 | 2138 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q5S007 | 2127 | 2192 | 2141 | 2141 | Natural variant | ID=VAR_054747;Note=In PARK8. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs111691891,PMID:18213618 |
| Q5S007 | 2127 | 2192 | 2143 | 2143 | Natural variant | ID=VAR_054748;Note=In PARK8. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs201271001,PMID:18213618 |
| Q5S007 | 2127 | 2192 | 2139 | 2183 | Repeat | Note=WD 1 |
| Q5S007 | 2127 | 2192 | 2188 | 2228 | Repeat | Note=WD 2 |
| Q5S007 | 2463 | 2487 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 2463 | 2487 | 2466 | 2466 | Natural variant | ID=VAR_054750;Note=In PARK8. L->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs281865057,PMID:18213618 |
| Q5S007 | 2463 | 2487 | 2443 | 2497 | Repeat | Note=WD 7 |
| 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 |
| Q5S007 | 145 | 190 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 190 | 235 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 190 | 235 | 228 | 228 | Natural variant | ID=VAR_054740;Note=C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs56108242,PMID:18213618 |
| Q5S007 | 190 | 235 | 212 | 212 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5S007 | 235 | 279 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 2127 | 2192 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 2127 | 2192 | 1879 | 2138 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q5S007 | 2127 | 2192 | 2141 | 2141 | Natural variant | ID=VAR_054747;Note=In PARK8. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs111691891,PMID:18213618 |
| Q5S007 | 2127 | 2192 | 2143 | 2143 | Natural variant | ID=VAR_054748;Note=In PARK8. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs201271001,PMID:18213618 |
| Q5S007 | 2127 | 2192 | 2139 | 2183 | Repeat | Note=WD 1 |
| Q5S007 | 2127 | 2192 | 2188 | 2228 | Repeat | Note=WD 2 |
| Q5S007 | 2463 | 2487 | 1 | 2527 | Chain | ID=PRO_0000086238;Note=Leucine-rich repeat serine/threonine-protein kinase 2 |
| Q5S007 | 2463 | 2487 | 2466 | 2466 | Natural variant | ID=VAR_054750;Note=In PARK8. L->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18213618;Dbxref=dbSNP:rs281865057,PMID:18213618 |
| Q5S007 | 2463 | 2487 | 2443 | 2497 | Repeat | Note=WD 7 |
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SNVs in the skipped exons for LRRK2 |
| - 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 |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_81423 | 40619357 | 40619442 | 40619416 | 40619416 | Frame_Shift_Del | T | - | p.S70fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_81427 | 40634285 | 40634419 | 40634397 | 40634397 | Frame_Shift_Del | T | - | p.C228fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_81429 | 40637352 | 40637483 | 40637467 | 40637467 | Frame_Shift_Del | C | - | p.L274fs |
| COAD | TCGA-AD-5900-01 | exon_skip_81432 | 40651050 | 40651179 | 40651060 | 40651060 | Frame_Shift_Del | A | - | p.R433fs |
| COAD | TCGA-AD-5900-01 | exon_skip_81436 | 40657591 | 40657703 | 40657647 | 40657647 | Frame_Shift_Del | A | - | p.V533fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_81436 | 40657591 | 40657703 | 40657647 | 40657647 | Frame_Shift_Del | A | - | p.V533fs |
| KIRC | TCGA-CJ-6031-01 | exon_skip_81450 exon_skip_81447 | 40707774 | 40707975 | 40707829 | 40707829 | Frame_Shift_Del | A | - | p.E1531fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_81450 exon_skip_81447 | 40707774 | 40707975 | 40707913 | 40707913 | Frame_Shift_Del | A | - | p.E1559fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_81450 exon_skip_81447 | 40707774 | 40707975 | 40707960 | 40707960 | Frame_Shift_Del | T | - | p.F1575fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_81453 | 40713790 | 40713977 | 40713819 | 40713819 | Frame_Shift_Del | A | - | p.P1619fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_81453 | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_81453 | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636X |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_81453 | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_81453 | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636X |
| KIRP | TCGA-P4-A5EA-01 | exon_skip_81460 | 40742211 | 40742311 | 40742254 | 40742254 | Frame_Shift_Del | G | - | p.E2108fs |
| KIRP | TCGA-P4-A5EA-01 | exon_skip_81460 | 40742211 | 40742311 | 40742258 | 40742261 | Frame_Shift_Del | TTAA | - | p.2109_2110del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_81462 | 40748101 | 40748294 | 40748176 | 40748176 | Frame_Shift_Del | G | - | p.G2218fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_81462 | 40748101 | 40748294 | 40748221 | 40748221 | Frame_Shift_Del | A | - | p.K2234fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_81462 | 40748101 | 40748294 | 40748221 | 40748221 | Frame_Shift_Del | A | - | p.K2234fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_81472 | 40760808 | 40760879 | 40760816 | 40760816 | Frame_Shift_Del | A | - | p.K2467fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_81423 | 40619357 | 40619442 | 40619415 | 40619416 | Frame_Shift_Ins | - | G | p.S70fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_81423 | 40619357 | 40619442 | 40619415 | 40619416 | Frame_Shift_Ins | - | G | p.Y71fs |
| STAD | TCGA-BR-8368-01 | exon_skip_81436 | 40657591 | 40657703 | 40657646 | 40657647 | Frame_Shift_Ins | - | A | p.V533fs |
| STAD | TCGA-BR-8368-01 | exon_skip_81436 | 40657591 | 40657703 | 40657647 | 40657648 | Frame_Shift_Ins | - | A | p.V533fs |
| STAD | TCGA-BR-8078-01 | exon_skip_81444 | 40699587 | 40699768 | 40699672 | 40699673 | Frame_Shift_Ins | - | G | p.M1288fs |
| STAD | TCGA-BR-8078-01 | exon_skip_81444 | 40699587 | 40699768 | 40699673 | 40699674 | Frame_Shift_Ins | - | G | p.M1288fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_81450 exon_skip_81447 | 40707774 | 40707975 | 40707828 | 40707829 | Frame_Shift_Ins | - | A | p.K1531fs |
| COAD | TCGA-AA-3492-01 | exon_skip_81453 | 40713790 | 40713977 | 40713869 | 40713870 | Frame_Shift_Ins | - | A | p.S1636fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_81453 | 40713790 | 40713977 | 40713869 | 40713870 | Frame_Shift_Ins | - | A | p.S1636fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_81463 | 40749917 | 40749989 | 40749921 | 40749922 | Frame_Shift_Ins | - | A | p.Q2259fs |
| HNSC | TCGA-CQ-7071-01 | exon_skip_81424 | 40626076 | 40626185 | 40626086 | 40626086 | Nonsense_Mutation | C | G | p.S83* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_81425 | 40631771 | 40631905 | 40631800 | 40631800 | Nonsense_Mutation | G | T | p.E156* |
| ESCA | TCGA-L5-A8NF-01 | exon_skip_81427 | 40634285 | 40634419 | 40634305 | 40634305 | Nonsense_Mutation | G | T | p.E198* |
| ESCA | TCGA-L5-A8NF-01 | exon_skip_81427 | 40634285 | 40634419 | 40634305 | 40634305 | Nonsense_Mutation | G | T | p.E198X |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_81429 | 40637352 | 40637483 | 40637447 | 40637447 | Nonsense_Mutation | G | T | p.E268* |
| BLCA | TCGA-FD-A5BV-01 | exon_skip_81444 | 40699587 | 40699768 | 40699705 | 40699705 | Nonsense_Mutation | T | A | p.L1299* |
| TGCT | TCGA-X3-A8G4-01 | exon_skip_81453 | 40713790 | 40713977 | 40713816 | 40713816 | Nonsense_Mutation | T | A | p.C1618* |
| TGCT | TCGA-X3-A8G4-01 | exon_skip_81453 | 40713790 | 40713977 | 40713816 | 40713816 | Nonsense_Mutation | T | A | p.C1618X |
| COAD | TCGA-CA-6718-01 | exon_skip_81453 | 40713790 | 40713977 | 40713869 | 40713869 | Nonsense_Mutation | C | A | p.S1636X |
| COAD | TCGA-AZ-6598-01 | exon_skip_81453 | 40713790 | 40713977 | 40713870 | 40713870 | Nonsense_Mutation | A | - | p.S1636X |
| HNSC | TCGA-CV-5978-01 | exon_skip_81455 | 40734096 | 40734256 | 40734242 | 40734242 | Nonsense_Mutation | C | G | p.S2032* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_81460 | 40742211 | 40742311 | 40742222 | 40742222 | Nonsense_Mutation | G | T | p.E2098* |
| STAD | TCGA-BR-8487-01 | exon_skip_81435 | 40653282 | 40653406 | 40653408 | 40653408 | Splice_Site | T | C | . |
| STAD | TCGA-BR-8487-01 | exon_skip_81435 | 40653282 | 40653406 | 40653408 | 40653408 | Splice_Site | T | C | p.G515_splice |
| PRAD | TCGA-EJ-A65B-01 | exon_skip_81439 | 40689229 | 40689446 | 40689228 | 40689228 | Splice_Site | G | A | . |
| STAD | TCGA-VQ-AA6I-01 | exon_skip_81444 | 40699587 | 40699768 | 40699585 | 40699585 | Splice_Site | A | C | . |
| - 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 |
| NCIH1703_LUNG | 40626076 | 40626185 | 40626083 | 40626083 | Frame_Shift_Del | G | - | p.W82fs |
| SNU1040_LARGE_INTESTINE | 40657591 | 40657703 | 40657647 | 40657647 | Frame_Shift_Del | A | - | p.K535fs |
| DV90_LUNG | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636fs |
| SNU324_PANCREAS | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636fs |
| LS411N_LARGE_INTESTINE | 40713790 | 40713977 | 40713870 | 40713870 | Frame_Shift_Del | A | - | p.S1636fs |
| SNU1_STOMACH | 40734096 | 40734256 | 40734234 | 40734234 | Frame_Shift_Del | A | - | p.I2029fs |
| NCIH522_LUNG | 40748101 | 40748294 | 40748133 | 40748145 | Frame_Shift_Del | CTTGGTGCATCTT | - | p.ALVHL2203fs |
| EFO27_OVARY | 40749917 | 40749989 | 40749922 | 40749922 | Frame_Shift_Del | A | - | p.Q2259fs |
| OVK18_OVARY | 40760808 | 40760879 | 40760816 | 40760816 | Frame_Shift_Del | A | - | p.K2467fs |
| LS411N_LARGE_INTESTINE | 40707774 | 40707975 | 40707828 | 40707829 | Frame_Shift_Ins | - | A | p.E1531fs |
| SNU175_LARGE_INTESTINE | 40713790 | 40713977 | 40713869 | 40713870 | Frame_Shift_Ins | - | A | p.SK1636fs |
| SNUC4_LARGE_INTESTINE | 40713790 | 40713977 | 40713869 | 40713870 | Frame_Shift_Ins | - | A | p.SK1636fs |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40713790 | 40713977 | 40713869 | 40713870 | Frame_Shift_Ins | - | A | p.SK1636fs |
| MFE319_ENDOMETRIUM | 40619357 | 40619442 | 40619404 | 40619404 | Missense_Mutation | G | C | p.V67L |
| DU145_PROSTATE | 40626076 | 40626185 | 40626083 | 40626083 | Missense_Mutation | G | C | p.W82S |
| NCIH2342_LUNG | 40626076 | 40626185 | 40626083 | 40626083 | Missense_Mutation | G | T | p.W82L |
| PANC0327_PANCREAS | 40626076 | 40626185 | 40626084 | 40626085 | Missense_Mutation | GT | TG | p.82_83WS>CA |
| ESO51_OESOPHAGUS | 40626076 | 40626185 | 40626147 | 40626147 | Missense_Mutation | G | C | p.Q103H |
| CAL62_THYROID | 40631771 | 40631905 | 40631780 | 40631780 | Missense_Mutation | C | G | p.T149S |
| KYSE510_OESOPHAGUS | 40631771 | 40631905 | 40631806 | 40631806 | Missense_Mutation | G | A | p.D158N |
| CFPAC1_PANCREAS | 40631771 | 40631905 | 40631855 | 40631855 | Missense_Mutation | A | G | p.D174G |
| OE33_OESOPHAGUS | 40634285 | 40634419 | 40634292 | 40634292 | Missense_Mutation | G | T | p.E193D |
| CAPAN2_PANCREAS | 40634285 | 40634419 | 40634317 | 40634317 | Missense_Mutation | A | T | p.N202Y |
| SW1463_LARGE_INTESTINE | 40634285 | 40634419 | 40634318 | 40634318 | Missense_Mutation | A | G | p.N202S |
| BICR16_UPPER_AERODIGESTIVE_TRACT | 40634285 | 40634419 | 40634332 | 40634332 | Missense_Mutation | A | G | p.I207V |
| HCT15_LARGE_INTESTINE | 40634285 | 40634419 | 40634342 | 40634342 | Missense_Mutation | G | A | p.S210N |
| HCC366_LUNG | 40634285 | 40634419 | 40634384 | 40634384 | Missense_Mutation | A | C | p.H224P |
| YAMATO_SOFT_TISSUE | 40637352 | 40637483 | 40637358 | 40637358 | Missense_Mutation | A | T | p.N238I |
| HCC56_LARGE_INTESTINE | 40637352 | 40637483 | 40637358 | 40637358 | Missense_Mutation | A | T | p.N238I |
| HCT116_LARGE_INTESTINE | 40637352 | 40637483 | 40637391 | 40637391 | Missense_Mutation | G | A | p.C249Y |
| BE2M17_AUTONOMIC_GANGLIA | 40637352 | 40637483 | 40637421 | 40637421 | Missense_Mutation | C | A | p.A259E |
| SKNBE2_AUTONOMIC_GANGLIA | 40637352 | 40637483 | 40637421 | 40637421 | Missense_Mutation | C | A | p.A259E |
| LMSU_STOMACH | 40651050 | 40651179 | 40651118 | 40651118 | Missense_Mutation | A | G | p.I453V |
| PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT | 40653282 | 40653406 | 40653286 | 40653286 | Missense_Mutation | A | G | p.T475A |
| NCIH524_LUNG | 40653282 | 40653406 | 40653295 | 40653295 | Missense_Mutation | G | T | p.D478Y |
| MFHINO_SOFT_TISSUE | 40653282 | 40653406 | 40653331 | 40653331 | Missense_Mutation | G | C | p.V490L |
| TK10_KIDNEY | 40653282 | 40653406 | 40653338 | 40653338 | Missense_Mutation | A | C | p.K492T |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40653282 | 40653406 | 40653394 | 40653394 | Missense_Mutation | T | G | p.F511V |
| CS1_BONE | 40657591 | 40657703 | 40657612 | 40657612 | Missense_Mutation | A | T | p.E522V |
| CORL88_LUNG | 40657591 | 40657703 | 40657653 | 40657653 | Missense_Mutation | C | A | p.Q536K |
| OVMIU_OVARY | 40657591 | 40657703 | 40657653 | 40657653 | Missense_Mutation | C | A | p.Q536K |
| SKMEL31_SKIN | 40689229 | 40689446 | 40689265 | 40689265 | Missense_Mutation | A | G | p.D972G |
| GP5D_LARGE_INTESTINE | 40689229 | 40689446 | 40689270 | 40689270 | Missense_Mutation | A | G | p.I974V |
| OCUBM_BREAST | 40689229 | 40689446 | 40689351 | 40689351 | Missense_Mutation | A | G | p.S1001G |
| NCIH2172_LUNG | 40689229 | 40689446 | 40689355 | 40689355 | Missense_Mutation | A | T | p.Q1002L |
| SF539_CENTRAL_NERVOUS_SYSTEM | 40689229 | 40689446 | 40689368 | 40689368 | Missense_Mutation | A | G | p.I1006M |
| KYSE70_OESOPHAGUS | 40699587 | 40699768 | 40699657 | 40699657 | Missense_Mutation | C | T | p.S1283F |
| MERO48A_LUNG | 40699587 | 40699768 | 40699662 | 40699662 | Missense_Mutation | C | T | p.P1285S |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40699587 | 40699768 | 40699720 | 40699720 | Missense_Mutation | T | A | p.L1304H |
| SNUC2A_LARGE_INTESTINE | 40699587 | 40699768 | 40699758 | 40699758 | Missense_Mutation | G | T | p.D1317Y |
| NCIH1339_LUNG | 40707774 | 40707975 | 40707849 | 40707849 | Missense_Mutation | C | T | p.R1538C |
| 201T_LUNG | 40707774 | 40707975 | 40707849 | 40707849 | Missense_Mutation | C | T | p.R1538C |
| M14_SKIN | 40707774 | 40707975 | 40707874 | 40707874 | Missense_Mutation | C | T | p.P1546L |
| MDAMB435S_SKIN | 40707774 | 40707975 | 40707874 | 40707874 | Missense_Mutation | C | T | p.P1546L |
| CORL303_LUNG | 40707774 | 40707975 | 40707910 | 40707910 | Missense_Mutation | G | T | p.R1558I |
| NCIH1915_LUNG | 40713790 | 40713977 | 40713878 | 40713878 | Missense_Mutation | G | C | p.R1639T |
| NCIH661_LUNG | 40713790 | 40713977 | 40713905 | 40713905 | Missense_Mutation | A | C | p.Q1648P |
| NCIH630_LARGE_INTESTINE | 40713790 | 40713977 | 40713962 | 40713962 | Missense_Mutation | T | C | p.L1667S |
| COLO794_SKIN | 40734096 | 40734256 | 40734229 | 40734229 | Missense_Mutation | G | A | p.G2028R |
| COLO800_SKIN | 40734096 | 40734256 | 40734229 | 40734229 | Missense_Mutation | G | A | p.G2028R |
| COLO818_SKIN | 40734096 | 40734256 | 40734229 | 40734229 | Missense_Mutation | G | A | p.G2028R |
| MFE319_ENDOMETRIUM | 40742211 | 40742311 | 40742226 | 40742226 | Missense_Mutation | A | G | p.Y2099C |
| NCIH650_LUNG | 40742211 | 40742311 | 40742237 | 40742237 | Missense_Mutation | C | T | p.P2103S |
| SW684_SOFT_TISSUE | 40742211 | 40742311 | 40742279 | 40742279 | Missense_Mutation | G | A | p.E2117K |
| NCIH661_LUNG | 40742211 | 40742311 | 40742285 | 40742285 | Missense_Mutation | C | A | p.P2119T |
| UMUC6_URINARY_TRACT | 40742211 | 40742311 | 40742304 | 40742304 | Missense_Mutation | C | G | p.S2125C |
| OVISE_OVARY | 40745341 | 40745535 | 40745363 | 40745363 | Missense_Mutation | C | A | p.A2135D |
| HUTU80_SMALL_INTESTINE | 40745341 | 40745535 | 40745381 | 40745381 | Missense_Mutation | C | T | p.T2141M |
| LS180_LARGE_INTESTINE | 40745341 | 40745535 | 40745386 | 40745386 | Missense_Mutation | C | T | p.R2143C |
| HSC39_STOMACH | 40745341 | 40745535 | 40745393 | 40745393 | Missense_Mutation | T | C | p.L2145S |
| SNGM_ENDOMETRIUM | 40745341 | 40745535 | 40745413 | 40745413 | Missense_Mutation | G | A | p.V2152I |
| SKMEL3_SKIN | 40745341 | 40745535 | 40745446 | 40745446 | Missense_Mutation | A | G | p.R2163G |
| NCIH2171_LUNG | 40748101 | 40748294 | 40748176 | 40748176 | Missense_Mutation | G | T | p.G2218W |
| SNU81_LARGE_INTESTINE | 40748101 | 40748294 | 40748226 | 40748226 | Missense_Mutation | G | T | p.K2234N |
| SNU1040_LARGE_INTESTINE | 40760808 | 40760879 | 40760869 | 40760869 | Missense_Mutation | A | C | p.Q2484H |
| KNS62_LUNG | 40626076 | 40626185 | 40626166 | 40626166 | Nonsense_Mutation | G | T | p.E110* |
| EN_ENDOMETRIUM | 40651050 | 40651179 | 40651079 | 40651079 | Nonsense_Mutation | G | T | p.G440* |
| ESS1_ENDOMETRIUM | 40657591 | 40657703 | 40657602 | 40657602 | Nonsense_Mutation | G | T | p.E519* |
| KYM1_SOFT_TISSUE | 40689229 | 40689446 | 40689354 | 40689354 | Nonsense_Mutation | C | T | p.Q1002* |
| 5637_URINARY_TRACT | 40742211 | 40742311 | 40742288 | 40742288 | Nonsense_Mutation | C | T | p.Q2120* |
| EN_ENDOMETRIUM | 40637352 | 40637483 | 40637352 | 40637352 | Splice_Site | G | A | p.C236Y |
| TMK1_STOMACH | 40653282 | 40653406 | 40653282 | 40653282 | Splice_Site | C | A | p.S473R |
| KYSE410_OESOPHAGUS | 40748101 | 40748294 | 40748102 | 40748102 | Splice_Site | A | - | p.E2193fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRK2 |
| 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 LRRK2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRK2 |
Top |
RelatedDrugs for LRRK2 |
| 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 |
| Q5S007 | DB12010 | Fostamatinib | Leucine-rich repeat serine/threonine-protein kinase 2 | small molecule | approved|investigational |
Top |
RelatedDiseases for LRRK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LRRK2 | C0030567 | Parkinson Disease | 10 | CTD_human |
| LRRK2 | C1846862 | PARKINSON DISEASE 8 (disorder) | 10 | CTD_human;UNIPROT |
| LRRK2 | C0242422 | Parkinsonian Disorders | 2 | CTD_human |
| LRRK2 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| LRRK2 | C0014175 | Endometriosis | 1 | CTD_human |
| LRRK2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| LRRK2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| LRRK2 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
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