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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:COX18-INPP4B (FusionGDB2 ID:18774)

Fusion Gene Summary for COX18-INPP4B

check button Fusion gene summary
Fusion gene informationFusion gene name: COX18-INPP4B
Fusion gene ID: 18774
HgeneTgene
Gene symbol

COX18

INPP4B

Gene ID

285521

8821

Gene namecytochrome c oxidase assembly factor COX18inositol polyphosphate-4-phosphatase type II B
SynonymsCOX18HS-
Cytomap

4q13.3

4q31.21

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase assembly protein COX18, mitochondrialCOX18, cytochrome c oxidase assembly factorcytochrome c oxidase assembly homolog 18cytochrome c oxidase assembly protein 18mitochondrial inner membrane protein COX18inositol polyphosphate 4-phosphatase type IIinositol polyphosphate 4-phosphatase II; 4-phosphatase IIinositol polyphosphate-4-phosphatase, type II, 105kDatype II inositol 3,4-bisphosphate 4-phosphatase
Modification date2020031320200313
UniProtAcc

Q8N8Q8

O15327

Ensembl transtripts involved in fusion geneENST00000295890, ENST00000507544, 
ENST00000421792, 		ENST00000262992, 
ENST00000507861, ENST00000508116, 
ENST00000509777, ENST00000513000, 
ENST00000308502, ENST00000506217, 
ENST00000508084, 
Fusion gene scores* DoF score2 X 2 X 1=412 X 11 X 6=792
# samples 213
** MAII scorelog2(2/4*10)=2.32192809488736log2(13/792*10)=-2.60698880705116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COX18 [Title/Abstract] AND INPP4B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOX18(73930967)-INPP4B(143383879), # samples:2
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
HgeneCOX18

GO:0032979

protein insertion into mitochondrial inner membrane from matrix side

28330871


check buttonFusion gene breakpoints across COX18 (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 INPP4B (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
ChimerDB4BRCATCGA-C8-A1HN-01ACOX18chr4

73930967

-INPP4Bchr4

143383879

-
ChimerDB4BRCATCGA-C8-A1HN-01ACOX18chr4

73930967

-INPP4Bchr4

143582049

-


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Fusion Gene ORF analysis for COX18-INPP4B

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-5UTRENST00000295890ENST00000262992COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000295890ENST00000507861COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000295890ENST00000508116COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000295890ENST00000509777COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000295890ENST00000513000COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000507544ENST00000262992COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000507544ENST00000507861COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000507544ENST00000508116COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000507544ENST00000509777COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-5UTRENST00000507544ENST00000513000COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000295890ENST00000262992COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000308502COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000295890ENST00000308502COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000506217COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000295890ENST00000506217COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000507861COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000508084COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000295890ENST00000508084COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000508116COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000509777COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000295890ENST00000513000COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000262992COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000308502COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000507544ENST00000308502COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000506217COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000507544ENST00000506217COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000507861COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000508084COX18chr4

73930967

-INPP4Bchr4

143383879

-
5CDS-intronENST00000507544ENST00000508084COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000508116COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000509777COX18chr4

73930967

-INPP4Bchr4

143582049

-
5CDS-intronENST00000507544ENST00000513000COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-5UTRENST00000421792ENST00000262992COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-5UTRENST00000421792ENST00000507861COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-5UTRENST00000421792ENST00000508116COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-5UTRENST00000421792ENST00000509777COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-5UTRENST00000421792ENST00000513000COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-intronENST00000421792ENST00000262992COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000308502COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-intronENST00000421792ENST00000308502COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000506217COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-intronENST00000421792ENST00000506217COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000507861COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000508084COX18chr4

73930967

-INPP4Bchr4

143383879

-
intron-intronENST00000421792ENST00000508084COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000508116COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000509777COX18chr4

73930967

-INPP4Bchr4

143582049

-
intron-intronENST00000421792ENST00000513000COX18chr4

73930967

-INPP4Bchr4

143582049

-

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 COX18-INPP4B


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 COX18-INPP4B


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/:73930967/:143383879)
- 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
COX18

Q8N8Q8

INPP4B

O15327

FUNCTION: Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase). {ECO:0000269|PubMed:16911509, ECO:0000269|PubMed:28330871}.FUNCTION: Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-trisphosphate (PubMed:24070612, PubMed:24591580). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles (PubMed:24591580). The lipid phosphatase activity is critical for tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:19647222, PubMed:24070612). {ECO:0000269|PubMed:19647222, ECO:0000269|PubMed:24070612, ECO:0000269|PubMed:24591580}.

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 COX18-INPP4B


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 COX18-INPP4B


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 COX18-INPP4B


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 COX18-INPP4B


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