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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:ARHGAP18-COX7A2 (FusionGDB2 ID:HG93663TG1347)

Fusion Gene Summary for ARHGAP18-COX7A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP18-COX7A2
Fusion gene ID: hg93663tg1347
HgeneTgene
Gene symbol

ARHGAP18

COX7A2

Gene ID

93663

1347

Gene nameRho GTPase activating protein 18cytochrome c oxidase subunit 7A2
SynonymsMacGAP|SENEX|bA307O14.2COX7AL|COX7AL1|COXVIIAL|COXVIIa-L|VIIAL
Cytomap('ARHGAP18')('COX7A2')

6q22.33

6q14.1

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 18rho-type GTPase-activating protein 18cytochrome c oxidase subunit 7A2, mitochondrialcytochrome c oxidase polypeptide 7A2, mitochondrialcytochrome c oxidase polypeptide VIIa-liver/heartcytochrome c oxidase subunit VIIa polypeptide 2 (liver)cytochrome c oxidase subunit VIIa-Lcytochrome c
Modification date2020031320200313
UniProtAcc

Q8N392

.
Ensembl transtripts involved in fusion geneENST00000368149, ENST00000463225, 
Fusion gene scores* DoF score6 X 4 X 5=1206 X 4 X 5=120
# samples 66
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP18 [Title/Abstract] AND COX7A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGAP18(129932677)-COX7A2(75947704), # samples:1
Anticipated loss of major functional domain due to fusion event.ARHGAP18-COX7A2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ARHGAP18-COX7A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ARHGAP18-COX7A2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across ARHGAP18 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across COX7A2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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-A7-A3IYARHGAP18chr6

129932677

-COX7A2chr6

75947704

-


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Fusion Gene ORF analysis for ARHGAP18-COX7A2

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
Frame-shiftENST00000368149ENST00000230459ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
Frame-shiftENST00000368149ENST00000370081ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
Frame-shiftENST00000368149ENST00000370089ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
Frame-shiftENST00000368149ENST00000472311ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
Frame-shiftENST00000368149ENST00000509698ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
In-frameENST00000368149ENST00000460985ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
intron-3CDSENST00000463225ENST00000230459ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
intron-3CDSENST00000463225ENST00000370081ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
intron-3CDSENST00000463225ENST00000370089ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
intron-3CDSENST00000463225ENST00000460985ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
intron-3CDSENST00000463225ENST00000472311ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-
intron-3CDSENST00000463225ENST00000509698ARHGAP18chr6

129932677

-COX7A2chr6

75947704

-

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)
ENST00000368149ARHGAP18chr6129932677-ENST00000460985COX7A2chr675947704-14111211501333427

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
ENST00000368149ENST00000460985ARHGAP18chr6129932677-COX7A2chr675947704-0.0036060780.996394

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Fusion Genomic Features for ARHGAP18-COX7A2


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.
genomic feature

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Fusion Protein Features for ARHGAP18-COX7A2


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/chr6:129932677/chr6:75947704)
- 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
ARHGAP18

Q8N392

.
FUNCTION: Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595). {ECO:0000269|PubMed:21865595, ECO:0000269|PubMed:25778702}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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
TgeneCOX7A2chr6:129932677chr6:75947704ENST000002304592478_836484.0Topological domainMitochondrial intermembrane

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGAP18chr6:129932677chr6:75947704ENST00000368149-815324_523374664.0DomainRho-GAP
TgeneCOX7A2chr6:129932677chr6:75947704ENST000002304592424_486484.0Topological domainMitochondrial matrix
TgeneCOX7A2chr6:129932677chr6:75947704ENST000002304592449_776484.0TransmembraneHelical


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Fusion Gene Sequence for ARHGAP18-COX7A2


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.
>5967_5967_1_ARHGAP18-COX7A2_ARHGAP18_chr6_129932677_ENST00000368149_COX7A2_chr6_75947704_ENST00000460985_length(transcript)=1411nt_BP=1211nt
AATGCTAATGAGCGAGTTGCCAGGCGAGACAGGAACTTCTTTCCCCTTCTCTGTGTCAGGATCGCAGAAAGTATGTCCCTTCTCTCACCA
TGAGCTGGCTCTCCAGTTCCCAGGGAGTGGTACTAACAGCCTACCACCCCAGCGGCAAGGACCAGACCGTCGGGAACAGCCATGCAAAGG
CAGGGGAGGAAGCCACCTCGAGTCGCAGATATGGCCAGTACACTATGAACCAGGAAAGCACCACCATCAAAGTTATGGAGAAGCCTCCAT
TTGATCGATCAATTTCCCAGGATTCTTTGGATGAACTATCTATGGAAGACTATTGGATAGAACTAGAAAACATCAAGAAATCTAGTGAAA
ACAGCCAAGAAGATCAAGAGGTGGTTGTTGTCAAAGAGCCTGATGAGGGAGAATTGGAAGAAGAGTGGCTTAAAGAGGCCGGTTTATCCA
ATCTCTTCGGAGAGTCTGCTGGAGATCCACAGGAAAGCATTGTGTTTTTATCAACATTGACGCGGACCCAGGCAGCAGCAGTTCAGAAGC
GAGTAGAGACGGTCTCCCAGACCTTGAGGAAAAAAAACAAACAGTACCAGATTCCTGACGTCAGAGACATATTTGCTCAACAGAGAGAAT
CAAAAGAAACAGCTCCAGGTGGCACTGAATCGCAGTCACTTAGAACAAATGAAAACAAATACCAAGGAAGAGATGACGAGGCATCTAACC
TTGTTGGTGAAGAGAAGCTGATCCCACCTGAGGAGACGCCTGCCCCTGAAACAGACATCAACCTGGAGGTATCATTTGCCGAGCAAGCAC
TCAATCAGAAAGAGAGCTCCAAGGAGAAAATCCAGAAGAGCAAAGGCGATGATGCCACATTACCTAGTTTCAGATTGCCAAAAGACAAAA
CGGGTACCACAAGGATTGGTGACCTCGCACCCCAGGACATGAAGAAAGTTTGCCATTTAGCCCTAATTGAGCTGACTGCCCTCTATGATG
TATTGGGTATTGAGCTGAAACAACAAAAAGCTGTGAAAATCAAAACAAAAGATTCTGGTCTTTTTTGCGTTCCATTGACAGCGCTATTAG
AACAAGATCAGAGGAAAGTACCAGGAATGCGAATACCCTTGATCTTTCAAAAACTGATTTCTCGAATTGAAGAGAGAGGTTTGGAAACAG
AAGGCCTCTTACGGATCCCTGGAGCTGCCATTAGAATCAAGGAACAGCATATGCCATATATGAGCTGGCTGTGGCTTCATTTCCCAAGAA
GCAGGAGTGACTTCAGTCATCCCAGCAATCGCTTGGTTCAGTTTCATTCAGCTCTCTATGGACCAGTAATCTGATAAATAACCGAGCTCT

>5967_5967_1_ARHGAP18-COX7A2_ARHGAP18_chr6_129932677_ENST00000368149_COX7A2_chr6_75947704_ENST00000460985_length(amino acids)=427AA_BP=387
MCQDRRKYVPSLTMSWLSSSQGVVLTAYHPSGKDQTVGNSHAKAGEEATSSRRYGQYTMNQESTTIKVMEKPPFDRSISQDSLDELSMED
YWIELENIKKSSENSQEDQEVVVVKEPDEGELEEEWLKEAGLSNLFGESAGDPQESIVFLSTLTRTQAAAVQKRVETVSQTLRKKNKQYQ
IPDVRDIFAQQRESKETAPGGTESQSLRTNENKYQGRDDEASNLVGEEKLIPPEETPAPETDINLEVSFAEQALNQKESSKEKIQKSKGD
DATLPSFRLPKDKTGTTRIGDLAPQDMKKVCHLALIELTALYDVLGIELKQQKAVKIKTKDSGLFCVPLTALLEQDQRKVPGMRIPLIFQ

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ARHGAP18-COX7A2


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 ARHGAP18-COX7A2


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 ARHGAP18-COX7A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGAP18C0036341Schizophrenia1PSYGENET