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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:LONP1-CATSPERD (FusionGDB2 ID:49411)

Fusion Gene Summary for LONP1-CATSPERD

check button Fusion gene summary
Fusion gene informationFusion gene name: LONP1-CATSPERD
Fusion gene ID: 49411
HgeneTgene
Gene symbol

LONP1

CATSPERD

Gene ID

9361

257062

Gene namelon peptidase 1, mitochondrialcation channel sperm associated auxiliary subunit delta
SynonymsCODASS|LON|LONP|LonHS|PIM1|PRSS15|hLONTMEM146
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionlon protease homolog, mitochondrialhLON ATP-dependent proteaselon protease-like proteinmitochondrial ATP-dependent protease Lonmitochondrial lon protease-like proteinserine protease 15cation channel sperm-associated protein subunit deltacatSper-deltacatSperdeltacatsper channel auxiliary subunit deltatransmembrane protein 146
Modification date2020031320200313
UniProtAcc

P36776

Q86XM0

Ensembl transtripts involved in fusion geneENST00000360614, ENST00000585374, 
ENST00000590729, ENST00000593119, 
ENST00000590511, ENST00000540670, 
ENST00000381614, ENST00000381624, 
ENST00000309164, 
Fusion gene scores* DoF score18 X 14 X 12=30242 X 3 X 2=12
# samples 233
** MAII scorelog2(23/3024*10)=-3.7167523732767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LONP1 [Title/Abstract] AND CATSPERD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLONP1(5719715)-CATSPERD(5727279), # samples:1
LONP1(5719714)-CATSPERD(5727278), # 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
HgeneLONP1

GO:0034599

cellular response to oxidative stress

17420247

HgeneLONP1

GO:0051603

proteolysis involved in cellular protein catabolic process

8248235|17420247


check buttonFusion gene breakpoints across LONP1 (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 CATSPERD (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
ChimerDB4OVTCGA-13-1487-01ALONP1chr19

5719715

-CATSPERDchr19

5727279

+
ChimerDB4OVTCGA-13-1487LONP1chr19

5719714

-CATSPERDchr19

5727278

+


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Fusion Gene ORF analysis for LONP1-CATSPERD

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
5CDS-5UTRENST00000360614ENST00000381614LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000360614ENST00000381614LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000360614ENST00000381624LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000360614ENST00000381624LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000585374ENST00000381614LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000585374ENST00000381614LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000585374ENST00000381624LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000585374ENST00000381624LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000590729ENST00000381614LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000590729ENST00000381614LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000590729ENST00000381624LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000590729ENST00000381624LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000593119ENST00000381614LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000593119ENST00000381614LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-5UTRENST00000593119ENST00000381624LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-5UTRENST00000593119ENST00000381624LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-intronENST00000360614ENST00000309164LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-intronENST00000360614ENST00000309164LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-intronENST00000585374ENST00000309164LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-intronENST00000585374ENST00000309164LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-intronENST00000590729ENST00000309164LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-intronENST00000590729ENST00000309164LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5CDS-intronENST00000593119ENST00000309164LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5CDS-intronENST00000593119ENST00000309164LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5UTR-5UTRENST00000590511ENST00000381614LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5UTR-5UTRENST00000590511ENST00000381614LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5UTR-5UTRENST00000590511ENST00000381624LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5UTR-5UTRENST00000590511ENST00000381624LONP1chr19

5719714

-CATSPERDchr19

5727278

+
5UTR-intronENST00000590511ENST00000309164LONP1chr19

5719715

-CATSPERDchr19

5727279

+
5UTR-intronENST00000590511ENST00000309164LONP1chr19

5719714

-CATSPERDchr19

5727278

+
intron-5UTRENST00000540670ENST00000381614LONP1chr19

5719715

-CATSPERDchr19

5727279

+
intron-5UTRENST00000540670ENST00000381614LONP1chr19

5719714

-CATSPERDchr19

5727278

+
intron-5UTRENST00000540670ENST00000381624LONP1chr19

5719715

-CATSPERDchr19

5727279

+
intron-5UTRENST00000540670ENST00000381624LONP1chr19

5719714

-CATSPERDchr19

5727278

+
intron-intronENST00000540670ENST00000309164LONP1chr19

5719715

-CATSPERDchr19

5727279

+
intron-intronENST00000540670ENST00000309164LONP1chr19

5719714

-CATSPERDchr19

5727278

+

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 LONP1-CATSPERD


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)
LONP1chr195719714-CATSPERDchr195727278+1.03E-091
LONP1chr195719714-CATSPERDchr195727278+1.03E-091
LONP1chr195719714-CATSPERDchr195727278+1.03E-091
LONP1chr195719714-CATSPERDchr195727278+1.03E-091

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for LONP1-CATSPERD


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/:5719715/:5727279)
- 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
LONP1

P36776

CATSPERD

Q86XM0

FUNCTION: ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (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}.FUNCTION: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane. {ECO:0000250|UniProtKB:E9Q9F6}.

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 LONP1-CATSPERD


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 LONP1-CATSPERD


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 LONP1-CATSPERD


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 LONP1-CATSPERD


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