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Fusion gene ID: 19946 |
FusionGeneSummary for LONP1_CATSPERD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LONP1_CATSPERD | Fusion gene ID: 19946 | Hgene | Tgene | Gene symbol | LONP1 | CATSPERD | Gene ID | 9361 | 257062 |
| Gene name | lon peptidase 1, mitochondrial | cation channel sperm associated auxiliary subunit delta | |
| Synonyms | CODASS|LON|LONP|LonHS|PIM1|PRSS15|hLON | TMEM146 | |
| Cytomap | 19p13.3 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lon protease homolog, mitochondrialhLON ATP-dependent proteaselon protease-like proteinmitochondrial ATP-dependent protease Lonmitochondrial lon protease-like proteinserine protease 15 | cation channel sperm-associated protein subunit deltacatSper-deltacatSperdeltacatsper channel auxiliary subunit deltatransmembrane protein 146 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P36776 | Q86XM0 | |
| Ensembl transtripts involved in fusion gene | ENST00000360614, ENST00000585374, ENST00000593119, ENST00000540670, ENST00000590729, ENST00000590511, | ENST00000381614, ENST00000381624, ENST00000309164, | |
| Fusion gene scores | * DoF score | 14 X 10 X 11=1540 | 1 X 1 X 1=1 |
| # samples | 15 | 1 | |
| ** MAII score | log2(15/1540*10)=-3.35989594508638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: LONP1 [Title/Abstract] AND CATSPERD [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 | LONP1 | GO:0034599 | cellular response to oxidative stress | 17420247 |
| Hgene | LONP1 | GO:0051260 | protein homooligomerization | 14739292 |
| Hgene | LONP1 | GO:0051603 | proteolysis involved in cellular protein catabolic process | 8248235|17420247 |
| 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 |
| TCGA | LD | OV | TCGA-13-1487-01A | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| * 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 |
| 5CDS-5UTR | ENST00000360614 | ENST00000381614 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000360614 | ENST00000381624 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-intron | ENST00000360614 | ENST00000309164 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000585374 | ENST00000381614 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000585374 | ENST00000381624 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-intron | ENST00000585374 | ENST00000309164 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000593119 | ENST00000381614 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000593119 | ENST00000381624 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-intron | ENST00000593119 | ENST00000309164 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| intron-5UTR | ENST00000540670 | ENST00000381614 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| intron-5UTR | ENST00000540670 | ENST00000381624 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| intron-intron | ENST00000540670 | ENST00000309164 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000590729 | ENST00000381614 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-5UTR | ENST00000590729 | ENST00000381624 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5CDS-intron | ENST00000590729 | ENST00000309164 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5UTR-5UTR | ENST00000590511 | ENST00000381614 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5UTR-5UTR | ENST00000590511 | ENST00000381624 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
| 5UTR-intron | ENST00000590511 | ENST00000309164 | LONP1 | chr19 | 5719715 | - | CATSPERD | chr19 | 5727279 | + |
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FusionProtFeatures for LONP1_CATSPERD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LONP1 | CATSPERD |
| ATP-dependent serine protease that mediates theselective degradation of misfolded, unassembled or oxidativelydamaged polypeptides as well as certain short-lived regulatoryproteins in the mitochondrial matrix. May also have a chaperonefunction in the assembly of inner membrane protein complexes.Participates in the regulation of mitochondrial gene expressionand in the maintenance of the integrity of the mitochondrialgenome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulatemitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation ofregulatory proteins binding to adjacent sites in mitochondrialpromoters (PubMed:12198491, PubMed:15870080, PubMed:17420247,PubMed:8248235). Endogenous substrates include mitochondrialsteroidogenic acute regulatory (StAR) protein, helicase Twinkle(TWNK) and the large ribosomal subunit protein bL32m. bL32m isprotected from degradation by LONP1 when it is bound to a nucleicacid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575).{ECO:0000255|HAMAP-Rule:MF_03120, ECO:0000269|PubMed:12198491,ECO:0000269|PubMed:15870080, ECO:0000269|PubMed:17420247,ECO:0000269|PubMed:17579211, ECO:0000269|PubMed:28377575,ECO:0000269|PubMed:8248235}. | Auxiliary component of the CatSper complex, a complexinvolved in sperm cell hyperactivation. Sperm cell hyperactivationis needed for sperm motility which is essential late in thepreparation of sperm for fertilization. Required for CATSPER1stability before intraflagellar transport and/or incorporation ofthe CatSper complex channel into the flagellar membrane.{ECO:0000250|UniProtKB:E9Q9F6}. |
| 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 LONP1_CATSPERD |
| 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 LONP1_CATSPERD |
| 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 |
| LONP1 | USP2, ATG101, GBAS, MYC, ICT1, MME, PSMA3, SIRT7, CUL1, A2M, CDC37, CYP2C8, ECSIT, IFIT3, IFIT5, LOXL4, MAST1, RNF32, APOE, DYNC1H1, C1QBP, ITGA4, SOX2, ADRB2, LATS2, ILK, TUBG1, CUL7, EGFR, C9orf173, GCAT, CLPX, PSMC4, PSMC5, SF3B1, TATDN1, NTRK1, CEP162, OFD1, CEP164, CNTRL, RPGRIP1L, DCTN1, NDUFS7, LRPPRC, ATL3, MTMR11, KLHDC8A, C19orf45, RASL10B, DCAF12L2, MRPL4, DCAF4, NEU4, FOXRED1, UPF3A, C9orf24, MRPS24, MKLN1, COQ2, TRIM25 | CATSPERD | LNX1, HLCS |
| - 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 LONP1_CATSPERD |
| 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 LONP1_CATSPERD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LONP1 | C1838180 | CODAS syndrome | 2 | ORPHANET;UNIPROT |
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