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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:CTRB2-PRSS1 (FusionGDB2 ID:20436)

Fusion Gene Summary for CTRB2-PRSS1

check button Fusion gene summary
Fusion gene informationFusion gene name: CTRB2-PRSS1
Fusion gene ID: 20436
HgeneTgene
Gene symbol

CTRB2

PRSS1

Gene ID

440387

136541

Gene namechymotrypsinogen B2serine protease 58
Synonyms-PRSS1|TRY1|TRYX3|UNQ2540
Cytomap

16q23.1

7q34

Type of geneprotein-codingprotein-coding
Descriptionchymotrypsinogen B2chymotrypsin B2serine protease 58protease, serine 58trypsin-X3
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000303037, ENST00000486171, 
ENST00000311737, 
Fusion gene scores* DoF score7 X 14 X 1=9812 X 17 X 5=1020
# samples 815
** MAII scorelog2(8/98*10)=-0.292781749227846
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1020*10)=-2.76553474636298
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTRB2 [Title/Abstract] AND PRSS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCTRB2(75239244)-PRSS1(142459863), # samples:2
CTRB2(75238128)-PRSS1(142459783), # samples:2
PRSS1(142458488)-CTRB2(75239893), # samples:2
PRSS1(142459850)-CTRB2(75239255), # samples:2
Anticipated loss of major functional domain due to fusion event.CTRB2-PRSS1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PRSS1-CTRB2 seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across CTRB2 (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 PRSS1 (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
ChimerDB4PAADTCGA-IB-AAUMCTRB2chr16

75239244

-PRSS1chr7

142459863

+
ChimerDB4PAADTCGA-IB-AAUMCTRB2chr16

75239333

-PRSS1chr7

142459783

+
ChimerDB4PAADTCGA-HZ-8003CTRB2chr16

75238120

-PRSS1chr7

142459791

+
ChimerDB4PAADTCGA-HZ-8003CTRB2chr16

75240000

-PRSS1chr7

142458480

+
ChimerDB4PAADTCGA-HZ-8003CTRB2chr16

75238128

-PRSS1chr7

142459783

+
ChimerDB4PAADTCGA-F2-6880CTRB2chr16

75238128

-PRSS1chr7

142459783

+
ChimerDB4PAADTCGA-F2-6880CTRB2chr16

75239244

-PRSS1chr7

142459863

+
ChimerDB4PAADTCGA-F2-6880CTRB2chr16

75238046

-PRSS1chr7

142459708

+
ChimerDB4PAADTCGA-F2-6880CTRB2chr16

75238195

-PRSS1chr7

142460790

+
ChimerDB4PAADTCGA-F2-6880CTRB2chr16

75238671

-PRSS1chr7

142460719

+


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Fusion Gene ORF analysis for CTRB2-PRSS1

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
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75239244

-PRSS1chr7

142459863

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75239244

-PRSS1chr7

142459863

+
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75239333

-PRSS1chr7

142459783

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75239333

-PRSS1chr7

142459783

+
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75238120

-PRSS1chr7

142459791

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75238120

-PRSS1chr7

142459791

+
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75240000

-PRSS1chr7

142458480

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75240000

-PRSS1chr7

142458480

+
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75238128

-PRSS1chr7

142459783

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75238128

-PRSS1chr7

142459783

+
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75238046

-PRSS1chr7

142459708

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75238046

-PRSS1chr7

142459708

+
intron-3CDSENST00000303037ENST00000486171CTRB2chr16

75238195

-PRSS1chr7

142460790

+
intron-3CDSENST00000303037ENST00000311737CTRB2chr16

75238195

-PRSS1chr7

142460790

+
In-frameENST00000303037ENST00000486171CTRB2chr16

75238671

-PRSS1chr7

142460719

+
Frame-shiftENST00000303037ENST00000311737CTRB2chr16

75238671

-PRSS1chr7

142460719

+

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)
ENST00000303037CTRB2chr1675238671-ENST00000486171PRSS1chr7142460719+82767444826261

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
ENST00000303037ENST00000486171CTRB2chr1675238671-PRSS1chr7142460719+0.0099065620.9900934

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Fusion Genomic Features for CTRB2-PRSS1


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)
CTRB2chr1675238670-PRSS1chr7142460718+0.0074022570.9925977
CTRB2chr1675238670-PRSS1chr7142460718+0.0074022570.9925977

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 CTRB2-PRSS1


check button Go to

FGviewer for the breakpoints of chr16:75238671-chr7:142460719

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneCTRB2chr16:75238671chr7:142460719ENST00000303037-6734_261210.0264.0DomainPeptidase S1
TgenePRSS1chr16:75238671chr7:142460719ENST000003117373524_244197.0248.0DomainPeptidase S1


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Fusion Gene Sequence for CTRB2-PRSS1


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.
>In-frame_ENST00000303037_ENST00000486171_TCGA-F2-6880_CTRB2_chr16_75238671_-_PRSS1_chr7_142460719_length(transcript)=827nt_BP=674nt
CGGGGACCGGCAGACAGGCGTCCTACACCCCTGCCAGCGGCACCATGGCTTTCCTCTGGCTCCTCTCCTGCTGGGCCCTCCTGGGTACCA
CCTTCGGCTGCGGGGTCCCCGCCATCCACCCTGTGCTCAGCGGCCTGTCCAGGATCGTGAATGGGGAGGACGCCGTCCCCGGCTCCTGGC
CCTGGCAGGTGTCCCTGCAGGACAAAACCGGCTTCCACTTCTGCGGGGGCTCCCTCATCAGCGAGGACTGGGTGGTCACCGCTGCCCACT
GCGGGGTCAGGACCTCCGACGTGGTCGTGGCTGGGGAGTTTGACCAGGGCTCTGACGAGGAGAACATCCAGGTCCTGAAGATCGCCAAGG
TCTTCAAGAACCCCAAGTTCAGCATTCTGACCGTGAACAATGACATCACCCTGCTGAAGCTGGCCACACCTGCCCGCTTCTCCCAGACAG
TGTCCGCCGTGTGCCTGCCCAGCGCCGACGACGACTTCCCCGCGGGGACACTGTGTGCCACCACAGGCTGGGGCAAGACCAAGTACAACG
CCAACAAGACCCCTGACAAGCTGCAGCAGGCAGCCCTGCCCCTCCTGTCCAATGCCGAATGCAAGAAGTCCTGGGGCAGGAGGATCACCG
ACGTGATGATCTGTGCCGGGGCCAGTGGCGTCTCCTCCTGCATGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAG
TTGTCTCCTGGGGTGATGGCTGTGCCCAGAAGAACAAGCCTGGAGTCTACACCAAGGTCTACAACTATGTGAAATGGATTAAGAACACCA

>In-frame_ENST00000303037_ENST00000486171_TCGA-F2-6880_CTRB2_chr16_75238671_-_PRSS1_chr7_142460719_length(amino acids)=261AA_start in transcript=44_stop in transcript=826
MAFLWLLSCWALLGTTFGCGVPAIHPVLSGLSRIVNGEDAVPGSWPWQVSLQDKTGFHFCGGSLISEDWVVTAAHCGVRTSDVVVAGEFD
QGSDEENIQVLKIAKVFKNPKFSILTVNNDITLLKLATPARFSQTVSAVCLPSADDDFPAGTLCATTGWGKTKYNANKTPDKLQQAALPL

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

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Fusion Gene PPI Analysis for CTRB2-PRSS1


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 CTRB2-PRSS1


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 CTRB2-PRSS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRSS1C0238339Hereditary pancreatitis13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePRSS1C0267937Acute recurrent pancreatitis2ORPHANET
TgenePRSS1C0030305Pancreatitis1CTD_human
TgenePRSS1C0149521Pancreatitis, Chronic1CTD_human
TgenePRSS1C4080064Autosomal Dominant Hereditary Pancreatitis1CTD_human