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Fusion gene ID: 19331 |
FusionGeneSummary for LACRT_PINK1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: LACRT_PINK1 | Fusion gene ID: 19331 | Hgene | Tgene | Gene symbol | LACRT | PINK1 | Gene ID | 90070 | 65018 |
Gene name | lacritin | PTEN induced putative kinase 1 | |
Synonyms | - | BRPK|PARK6 | |
Cytomap | 12q13.2 | 1p36.12 | |
Type of gene | protein-coding | protein-coding | |
Description | extracellular glycoprotein lacritin | serine/threonine-protein kinase PINK1, mitochondrialPTEN-induced putative kinase protein 1protein kinase BRPK | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9GZZ8 | Q9BXM7 | |
Ensembl transtripts involved in fusion gene | ENST00000547511, ENST00000257867, | ENST00000321556, ENST00000492302, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 5 X 2=30 |
# samples | 1 | 5 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: LACRT [Title/Abstract] AND PINK1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | LACRT | GO:0008284 | positive regulation of cell proliferation | 11419941|16982797 |
Hgene | LACRT | GO:0010669 | epithelial structure maintenance | 25034600 |
Hgene | LACRT | GO:0016239 | positive regulation of macroautophagy | 23640897 |
Hgene | LACRT | GO:0019722 | calcium-mediated signaling | 11419941|16923831 |
Hgene | LACRT | GO:0031665 | negative regulation of lipopolysaccharide-mediated signaling pathway | 26670139 |
Hgene | LACRT | GO:0033173 | calcineurin-NFAT signaling cascade | 16923831 |
Hgene | LACRT | GO:0034067 | protein localization to Golgi apparatus | 16923831 |
Hgene | LACRT | GO:0042742 | defense response to bacterium | 24942736 |
Hgene | LACRT | GO:0043066 | negative regulation of apoptotic process | 26670139 |
Hgene | LACRT | GO:0050679 | positive regulation of epithelial cell proliferation | 16923831 |
Hgene | LACRT | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 11419941 |
Hgene | LACRT | GO:0050850 | positive regulation of calcium-mediated signaling | 25530855 |
Hgene | LACRT | GO:0051047 | positive regulation of secretion | 11419941 |
Hgene | LACRT | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol | 16923831 |
Hgene | LACRT | GO:0060054 | positive regulation of epithelial cell proliferation involved in wound healing | 25530855 |
Hgene | LACRT | GO:0070075 | tear secretion | 25034600|25481446 |
Hgene | LACRT | GO:0070886 | positive regulation of calcineurin-NFAT signaling cascade | 16923831 |
Tgene | PINK1 | GO:0001934 | positive regulation of protein phosphorylation | 25244949 |
Tgene | PINK1 | GO:0002082 | regulation of oxidative phosphorylation | 20871098 |
Tgene | PINK1 | GO:0006468 | protein phosphorylation | 14607334|21177249|25527291 |
Tgene | PINK1 | GO:0018105 | peptidyl-serine phosphorylation | 17579517|19880420 |
Tgene | PINK1 | GO:0031396 | regulation of protein ubiquitination | 19880420 |
Tgene | PINK1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 21177249 |
Tgene | PINK1 | GO:0035556 | intracellular signal transduction | 14607334 |
Tgene | PINK1 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 19880420 |
Tgene | PINK1 | GO:0043254 | regulation of protein complex assembly | 19880420 |
Tgene | PINK1 | GO:1903202 | negative regulation of oxidative stress-induced cell death | 16632486 |
Tgene | PINK1 | GO:1903214 | regulation of protein targeting to mitochondrion | 25244949 |
Tgene | PINK1 | GO:1903384 | negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway | 21177249 |
Tgene | PINK1 | GO:1903751 | negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide | 17579517 |
Tgene | PINK1 | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway | 15087508 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | CD723935 | LACRT | chr12 | 55026094 | - | PINK1 | chr1 | 20964531 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000547511 | ENST00000321556 | LACRT | chr12 | 55026094 | - | PINK1 | chr1 | 20964531 | + |
intron-intron | ENST00000547511 | ENST00000492302 | LACRT | chr12 | 55026094 | - | PINK1 | chr1 | 20964531 | + |
intron-3CDS | ENST00000257867 | ENST00000321556 | LACRT | chr12 | 55026094 | - | PINK1 | chr1 | 20964531 | + |
intron-intron | ENST00000257867 | ENST00000492302 | LACRT | chr12 | 55026094 | - | PINK1 | chr1 | 20964531 | + |
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FusionProtFeatures for LACRT_PINK1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
LACRT | PINK1 |
Modulates secretion by lacrimal acinar cells. | Protects against mitochondrial dysfunction duringcellular stress by phosphorylating mitochondrial proteins.Involved in the clearance of damaged mitochondria via selectiveautophagy (mitophagy) by mediating activation and translocation ofPRKN (PubMed:14607334, PubMed:15087508, PubMed:19229105,PubMed:19966284, PubMed:20404107, PubMed:20798600,PubMed:23620051, PubMed:23754282, PubMed:23933751,PubMed:24660806, PubMed:24751536, PubMed:24784582,PubMed:24896179, PubMed:25527291). Targets PRKN to dysfunctionaldepolarized mitochondria through the phosphorylation of MFN2(PubMed:23620051). Activates PRKN in 2 steps: (1) by mediatingphosphorylation at 'Ser-65' of PRKN and (2) mediatingphosphorylation of ubiquitin, converting PRKN to its fully-activeform (PubMed:24660806, PubMed:24751536, PubMed:24784582,PubMed:25527291). Required for ubiquinone reduction bymitochondrial complex I by mediating phosphorylation of complex Isubunit NDUFA10 (By similarity). {ECO:0000250|UniProtKB:Q99MQ3,ECO:0000269|PubMed:14607334, ECO:0000269|PubMed:15087508,ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:19966284,ECO:0000269|PubMed:20404107, ECO:0000269|PubMed:20798600,ECO:0000269|PubMed:23620051, ECO:0000269|PubMed:23754282,ECO:0000269|PubMed:23933751, ECO:0000269|PubMed:24660806,ECO:0000269|PubMed:24751536, ECO:0000269|PubMed:24784582,ECO:0000269|PubMed:24896179, ECO:0000269|PubMed:25527291}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for LACRT_PINK1 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for LACRT_PINK1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for LACRT_PINK1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for LACRT_PINK1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PINK1 | C1853833 | Parkinson Disease 6, Autosomal Recessive Early-Onset | 17 | CTD_human;UNIPROT |
Tgene | PINK1 | C0030567 | Parkinson Disease | 5 | CTD_human |
Tgene | PINK1 | C0242422 | Parkinsonian Disorders | 4 | CTD_human |
Tgene | PINK1 | C0036341 | Schizophrenia | 3 | PSYGENET |
Tgene | PINK1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Tgene | PINK1 | C0027819 | Neuroblastoma | 1 | CTD_human |
Tgene | PINK1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | PINK1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |