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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:LRRK2-CDK17 (FusionGDB2 ID:50112)

Fusion Gene Summary for LRRK2-CDK17

check button Fusion gene summary
Fusion gene informationFusion gene name: LRRK2-CDK17
Fusion gene ID: 50112
HgeneTgene
Gene symbol

LRRK2

CDK17

Gene ID

120892

5128

Gene nameleucine rich repeat kinase 2cyclin dependent kinase 17
SynonymsAURA17|DARDARIN|PARK8|RIPK7|ROCO2PCTAIRE2|PCTK2
Cytomap

12q12

12q23.1

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat serine/threonine-protein kinase 2augmented in rheumatoid arthritis 17cyclin-dependent kinase 17PCTAIRE-motif protein kinase 2cell division protein kinase 17protein kinase cdc2-related PCTAIRE-2serine/threonine-protein kinase PCTAIRE-2
Modification date2020032920200313
UniProtAcc

Q5S007

Q00537

Ensembl transtripts involved in fusion geneENST00000343742, ENST00000298910, 
ENST00000481256, 
ENST00000261211, 
ENST00000542666, ENST00000543119, 
ENST00000553042, 
Fusion gene scores* DoF score6 X 6 X 4=1449 X 6 X 4=216
# samples 69
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRRK2 [Title/Abstract] AND CDK17 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLRRK2(40698281)-CDK17(96738195), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneLRRK2

GO:0000165

MAPK cascade

17200152

HgeneLRRK2

GO:0000186

activation of MAPKK activity

19302196

HgeneLRRK2

GO:0001934

positive regulation of protein phosphorylation

22012985

HgeneLRRK2

GO:0006468

protein phosphorylation

25500533

HgeneLRRK2

GO:0010955

negative regulation of protein processing

21370995

HgeneLRRK2

GO:0018105

peptidyl-serine phosphorylation

19576176

HgeneLRRK2

GO:0018107

peptidyl-threonine phosphorylation

21048939

HgeneLRRK2

GO:0031398

positive regulation of protein ubiquitination

16352719|20173330

HgeneLRRK2

GO:0032092

positive regulation of protein binding

21370995

HgeneLRRK2

GO:0034260

negative regulation of GTPase activity

22423108

HgeneLRRK2

GO:0043068

positive regulation of programmed cell death

17200152

HgeneLRRK2

GO:0046039

GTP metabolic process

21048939

HgeneLRRK2

GO:0046777

protein autophosphorylation

16269541|16321986|17200152|17442267

HgeneLRRK2

GO:1902499

positive regulation of protein autoubiquitination

16352719

HgeneLRRK2

GO:1903125

negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation

21850687

HgeneLRRK2

GO:1903215

negative regulation of protein targeting to mitochondrion

21370995


check buttonFusion gene breakpoints across LRRK2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CDK17 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AFN068206LRRK2chr12

40698281

-CDK17chr12

96738195

+


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Fusion Gene ORF analysis for LRRK2-CDK17

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-intronENST00000343742ENST00000261211LRRK2chr12

40698281

-CDK17chr12

96738195

+
3UTR-intronENST00000343742ENST00000542666LRRK2chr12

40698281

-CDK17chr12

96738195

+
3UTR-intronENST00000343742ENST00000543119LRRK2chr12

40698281

-CDK17chr12

96738195

+
3UTR-intronENST00000343742ENST00000553042LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000298910ENST00000261211LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000298910ENST00000542666LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000298910ENST00000543119LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000298910ENST00000553042LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000481256ENST00000261211LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000481256ENST00000542666LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000481256ENST00000543119LRRK2chr12

40698281

-CDK17chr12

96738195

+
intron-intronENST00000481256ENST00000553042LRRK2chr12

40698281

-CDK17chr12

96738195

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for LRRK2-CDK17


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for LRRK2-CDK17


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:40698281/:96738195)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRRK2

Q5S007

CDK17

Q00537

FUNCTION: Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, autophagy, and vesicle trafficking (PubMed:20949042, PubMed:22012985, PubMed:26824392, PubMed:29125462, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:30635421, PubMed:21850687, PubMed:23395371, PubMed:17114044, PubMed:24687852, PubMed:26014385, PubMed:25201882). Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation (PubMed:26824392, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:29125462, PubMed:30635421). Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:26824392, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:29125462, PubMed:30635421, PubMed:23395371). Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A (PubMed:26824392). Inhibits the interaction between RAB8A and GDI1 and/or GDI2 by phosphorylating 'Thr-72' on RAB8A (PubMed:26824392). Regulates primary ciliogenesis through phosphorylation of RAB8A and RAB10, which promotes SHH signaling in the brain (PubMed:29125462, PubMed:30398148). Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose-6-phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:23395371). Regulates neuronal process morphology in the intact central nervous system (CNS) (PubMed:17114044). Plays a role in synaptic vesicle trafficking (PubMed:24687852). Plays an important role in recruiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882). Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway (PubMed:22012985). The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (PubMed:22012985). Phosphorylates PRDX3 (PubMed:21850687). By phosphorylating APP on 'Thr-743', which promotes the production and the nuclear translocation of the APP intracellular domain (AICD), regulates dopaminergic neuron apoptosis (PubMed:28720718). Independent of its kinase activity, inhibits the proteosomal degradation of MAPT, thus promoting MAPT oligomerization and secretion (PubMed:26014385). In addition, has GTPase activity via its Roc domain which regulates LRRK2 kinase activity (PubMed:18230735, PubMed:26824392, PubMed:29125462, PubMed:28720718, PubMed:29212815). {ECO:0000269|PubMed:17114044, ECO:0000269|PubMed:18230735, ECO:0000269|PubMed:20949042, ECO:0000269|PubMed:21850687, ECO:0000269|PubMed:22012985, ECO:0000269|PubMed:23395371, ECO:0000269|PubMed:24687852, ECO:0000269|PubMed:25201882, ECO:0000269|PubMed:26014385, ECO:0000269|PubMed:26824392, ECO:0000269|PubMed:28720718, ECO:0000269|PubMed:29125462, ECO:0000269|PubMed:29127255, ECO:0000269|PubMed:29212815, ECO:0000269|PubMed:30398148, ECO:0000269|PubMed:30635421}.FUNCTION: May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for LRRK2-CDK17


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for LRRK2-CDK17


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for LRRK2-CDK17


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for LRRK2-CDK17


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource