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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:ATP6V1C2-CTSB (FusionGDB2 ID:HG245973TG1508)

Fusion Gene Summary for ATP6V1C2-CTSB

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1C2-CTSB
Fusion gene ID: hg245973tg1508
HgeneTgene
Gene symbol

ATP6V1C2

CTSB

Gene ID

245973

1508

Gene nameATPase H+ transporting V1 subunit C2cathepsin B
SynonymsATP6C2|VMA5APPS|CPSB|RECEUP
Cytomap('ATP6V1C2')('CTSB')

2p25.1

8p23.1

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit C 2ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2V-ATPase C2 subunitvacuolar proton pump subunit C 2cathepsin BAPP secretaseamyloid precursor protein secretasecathepsin B1cysteine proteaseepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc

Q8NEY4

.
Ensembl transtripts involved in fusion geneENST00000381661, ENST00000272238, 
Fusion gene scores* DoF score6 X 6 X 3=10813 X 14 X 6=1092
# samples 614
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1092*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1C2 [Title/Abstract] AND CTSB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V1C2(10924094)-CTSB(11702249), # 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
TgeneCTSB

GO:0006508

proteolysis

7890620|8811434

TgeneCTSB

GO:0030574

collagen catabolic process

22952693

TgeneCTSB

GO:0051603

proteolysis involved in cellular protein catabolic process

22952693



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
ChimerDB4CESCTCGA-Q1-A5R3-01AATP6V1C2chr2

10924094

+CTSBchr8

11702249

-


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Fusion Gene ORF analysis for ATP6V1C2-CTSB

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-3UTRENST00000381661ENST00000345125ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-3UTRENST00000381661ENST00000353047ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-3UTRENST00000381661ENST00000415599ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-3UTRENST00000381661ENST00000434271ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-3UTRENST00000381661ENST00000453527ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-3UTRENST00000381661ENST00000533455ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-3UTRENST00000381661ENST00000534510ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-intronENST00000381661ENST00000525076ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-intronENST00000381661ENST00000530640ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
3UTR-intronENST00000381661ENST00000531089ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000345125ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000353047ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000415599ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000434271ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000453527ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000533455ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-3UTRENST00000272238ENST00000534510ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-intronENST00000272238ENST00000525076ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-intronENST00000272238ENST00000530640ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-
intron-intronENST00000272238ENST00000531089ATP6V1C2chr2

10924094

+CTSBchr8

11702249

-

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 ATP6V1C2-CTSB


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 ATP6V1C2-CTSB


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/:10924094/:11702249)
- 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
ATP6V1C2

Q8NEY4

.
FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.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

- 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 ATP6V1C2-CTSB


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 ATP6V1C2-CTSB


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 ATP6V1C2-CTSB


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 ATP6V1C2-CTSB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0406756Keratolytic winter erythema1CTD_human;ORPHANET
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human