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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:C16orf62-C9 (FusionGDB2 ID:HG57020TG735)

Fusion Gene Summary for C16orf62-C9

check button Fusion gene summary
Fusion gene informationFusion gene name: C16orf62-C9
Fusion gene ID: hg57020tg735
HgeneTgene
Gene symbol

C16orf62

C9

Gene ID

57020

735

Gene nameVPS35 endosomal protein sorting factor likecomplement C9
SynonymsC16orf62ARMD15|C9D
Cytomap('C16orf62')('C9')

16p12.3

5p13.1

Type of geneprotein-codingprotein-coding
DescriptionVPS35 endosomal protein sorting factor-likeUPF0505 protein C16orf62esophageal cancer associated proteincomplement component C9complement component 9
Modification date2020031320200313
UniProtAcc.

P02748

Ensembl transtripts involved in fusion geneENST00000538853, ENST00000251143, 
ENST00000417362, ENST00000438132, 
ENST00000448695, ENST00000542263, 
ENST00000543152, ENST00000544275, 
Fusion gene scores* DoF score6 X 5 X 5=1507 X 6 X 4=168
# samples 68
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C16orf62 [Title/Abstract] AND C9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC16orf62(19613045)-C9(39285335), # 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
TgeneC9

GO:0001906

cell killing

26841934|30111885

TgeneC9

GO:0051260

protein homooligomerization

26841934|30111885



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
ChimerDB4LIHCTCGA-G3-A5SM-01AC16orf62chr16

19613045

+C9chr5

39285335

-


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Fusion Gene ORF analysis for C16orf62-C9

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
3UTR-3CDSENST00000538853ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
3UTR-intronENST00000538853ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
5CDS-intronENST00000251143ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
5CDS-intronENST00000417362ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
5CDS-intronENST00000438132ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
5CDS-intronENST00000448695ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
5CDS-intronENST00000542263ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
5CDS-intronENST00000543152ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-
Frame-shiftENST00000251143ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
Frame-shiftENST00000417362ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
Frame-shiftENST00000438132ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
Frame-shiftENST00000448695ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
Frame-shiftENST00000542263ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
Frame-shiftENST00000543152ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
intron-3CDSENST00000544275ENST00000263408C16orf62chr16

19613045

+C9chr5

39285335

-
intron-intronENST00000544275ENST00000509186C16orf62chr16

19613045

+C9chr5

39285335

-

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 C16orf62-C9


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)


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Fusion Protein Features for C16orf62-C9


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/:19613045/:39285335)
- 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
.C9

P02748

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}.FUNCTION: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934, PubMed:30111885). {ECO:0000269|PubMed:26841934, ECO:0000269|PubMed:30111885, ECO:0000269|PubMed:4055801, ECO:0000269|PubMed:9212048, ECO:0000269|PubMed:9634479}.

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 C16orf62-C9


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 C16orf62-C9


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 C16orf62-C9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneC9P02748DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for C16orf62-C9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0003257Antibody Deficiency Syndrome2CTD_human
TgeneC0021051Immunologic Deficiency Syndromes2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC3151189C9 Deficiency2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0011633Dermatomyositis1CTD_human
TgeneC0015456Facial Dermatoses1CTD_human
TgeneC0015704Favre-Racouchot Syndrome1CTD_human
TgeneC0025294Meningococcal meningitis1CTD_human
TgeneC0027412Opioid-Related Disorders1CTD_human
TgeneC0029095Opioid abuse1CTD_human
TgeneC0041834Erythema1CTD_human
TgeneC0221056Adult type dermatomyositis1CTD_human
TgeneC0242383Age related macular degeneration1CTD_human
TgeneC0263666Dermatomyositis, Childhood Type1CTD_human
TgeneC0272242Complement deficiency disease1GENOMICS_ENGLAND
TgeneC0343097Nodular Elastoidosis1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0524661Narcotic Abuse1CTD_human
TgeneC0524662Opiate Addiction1CTD_human
TgeneC1135745Meningitis, Meningococcal, Serogroup A1CTD_human
TgeneC1135746Meningitis, Meningococcal, Serogroup B1CTD_human
TgeneC1135747Meningitis, Meningococcal, Serogroup C1CTD_human
TgeneC1136209Meningitis, Meningococcal, Serogroup Y1CTD_human
TgeneC1136210Meningitis, Meningococcal, Serogroup W-1351CTD_human
TgeneC1527402Narcotic Dependence1CTD_human
TgeneC3810042MACULAR DEGENERATION, AGE-RELATED, 151CTD_human;UNIPROT
TgeneC4551628Opiate Abuse1CTD_human