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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:DSCR3-CTSH (FusionGDB2 ID:HG10311TG1512)

Fusion Gene Summary for DSCR3-CTSH

check button Fusion gene summary
Fusion gene informationFusion gene name: DSCR3-CTSH
Fusion gene ID: hg10311tg1512
HgeneTgene
Gene symbol

DSCR3

CTSH

Gene ID

10311

1512

Gene nameVPS26 endosomal protein sorting factor Ccathepsin H
SynonymsDCRA|DSCR3|DSCRAACC-4|ACC-5|ACC4|ACC5|CPSB
Cytomap('DSCR3')('CTSH')

21q22.13

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 26CDSCR3 arrestin fold containingDown syndrome critical region 3Down syndrome critical region gene 3Down syndrome critical region protein 3Down syndrome critical region protein Apro-cathepsin HN-benzoylarginine-beta-naphthylamide hydrolasealeuraincathepsin B3cathepsin BA
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000309117, ENST00000398998, 
ENST00000399001, ENST00000476950, 
ENST00000539844, ENST00000288304, 
ENST00000399000, 
Fusion gene scores* DoF score7 X 2 X 5=705 X 4 X 3=60
# samples 95
** MAII scorelog2(9/70*10)=0.362570079384708
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DSCR3 [Title/Abstract] AND CTSH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDSCR3(38639539)-CTSH(79231513), # samples:3
Anticipated loss of major functional domain due to fusion event.DSCR3-CTSH seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneCTSH

GO:0002764

immune response-regulating signaling pathway

16822283

TgeneCTSH

GO:0006508

proteolysis

6203523|8811434

TgeneCTSH

GO:0010628

positive regulation of gene expression

21217776

TgeneCTSH

GO:0010813

neuropeptide catabolic process

15127951

TgeneCTSH

GO:0010815

bradykinin catabolic process

15127951

TgeneCTSH

GO:0010952

positive regulation of peptidase activity

20435891

TgeneCTSH

GO:0030335

positive regulation of cell migration

21217776

TgeneCTSH

GO:0031638

zymogen activation

20435891

TgeneCTSH

GO:0033619

membrane protein proteolysis

14766755

TgeneCTSH

GO:0043129

surfactant homeostasis

18216060

TgeneCTSH

GO:0070371

ERK1 and ERK2 cascade

21217776



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-RC-A6M3-01ADSCR3chr21

38639539

-CTSHchr15

79231513

-


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Fusion Gene ORF analysis for DSCR3-CTSH

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-intronENST00000309117ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
5CDS-intronENST00000398998ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
5CDS-intronENST00000399001ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
5CDS-intronENST00000476950ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
5CDS-intronENST00000539844ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
5UTR-3CDSENST00000288304ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-
5UTR-3CDSENST00000399000ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-
5UTR-intronENST00000288304ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
5UTR-intronENST00000399000ENST00000534533DSCR3chr21

38639539

-CTSHchr15

79231513

-
Frame-shiftENST00000309117ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-
Frame-shiftENST00000398998ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-
Frame-shiftENST00000399001ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-
Frame-shiftENST00000476950ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-
Frame-shiftENST00000539844ENST00000220166DSCR3chr21

38639539

-CTSHchr15

79231513

-

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 DSCR3-CTSH


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 DSCR3-CTSH


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/:38639539/:79231513)
- 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
..
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: 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 DSCR3-CTSH


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 DSCR3-CTSH


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 DSCR3-CTSH


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 DSCR3-CTSH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0027404Narcolepsy1ORPHANET
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0751362Narcolepsy-Cataplexy Syndrome1ORPHANET
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human