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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:CAST-CAST (FusionGDB2 ID:HG831TG831)

Fusion Gene Summary for CAST-CAST

check button Fusion gene summary
Fusion gene informationFusion gene name: CAST-CAST
Fusion gene ID: hg831tg831
HgeneTgene
Gene symbol

CAST

CAST

Gene ID

831

831

Gene namecalpastatincalpastatin
SynonymsBS-17|PLACKBS-17|PLACK
Cytomap('CAST')('CAST')

5q15

5q15

Type of geneprotein-codingprotein-coding
Descriptioncalpastatincalpain inhibitorsperm BS-17 componentcalpastatincalpain inhibitorsperm BS-17 component
Modification date2020031320200313
UniProtAcc

P20810

P20810

Ensembl transtripts involved in fusion geneENST00000348386, ENST00000309190, 
ENST00000325674, ENST00000338252, 
ENST00000341926, ENST00000395813, 
ENST00000504465, ENST00000508608, 
ENST00000508830, ENST00000509903, 
ENST00000510756, ENST00000511049, 
ENST00000511782, ENST00000359176, 
ENST00000395812, ENST00000508579, 
ENST00000515663, 
ENST00000309190, 
ENST00000325674, ENST00000338252, 
ENST00000341926, ENST00000359176, 
ENST00000395812, ENST00000395813, 
ENST00000504465, ENST00000508608, 
ENST00000508830, ENST00000509903, 
ENST00000510756, ENST00000511049, 
ENST00000511782, ENST00000348386, 
ENST00000508579, ENST00000515663, 
Fusion gene scores* DoF score11 X 11 X 6=72610 X 9 X 8=720
# samples 1313
** MAII scorelog2(13/726*10)=-2.4814579249673
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/720*10)=-2.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAST [Title/Abstract] AND CAST [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAST(96064893)-CAST(96089796), # 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
HgeneCAST

GO:2000675

negative regulation of type B pancreatic cell apoptotic process

15044459

TgeneCAST

GO:2000675

negative regulation of type B pancreatic cell apoptotic process

15044459


check buttonFusion gene breakpoints across CAST (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 CAST (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


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Fusion Gene ORF analysis for CAST-CAST

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

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 CAST-CAST


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 CAST-CAST


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/chr5:96064893/chr5:96089796)
- 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
CAST

P20810

CAST

P20810

FUNCTION: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.FUNCTION: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.

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
TgeneCASTchr5:96064893chr5:96089796ENST00000309190029170_22201330.0RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000309190029304_35601330.0RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000309190029446_49901330.0RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000309190029583_63601330.0RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000325674030170_22201351.3333333333333RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000325674030304_35601351.3333333333333RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000325674030446_49901351.3333333333333RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000325674030583_63601351.3333333333333RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000338252031170_2220863.0RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000338252031304_3560863.0RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000338252031446_4990863.0RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000338252031583_6360863.0RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000341926030170_2220726.3333333333334RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000341926030304_3560726.3333333333334RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000341926030446_4990726.3333333333334RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000341926030583_6360726.3333333333334RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000359176031170_22201367.3333333333333RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000359176031304_35601367.3333333333333RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000359176031446_49901367.3333333333333RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000359176031583_63601367.3333333333333RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000395812030170_22201345.3333333333333RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000395812030304_35601345.3333333333333RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000395812030446_49901345.3333333333333RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000395812030583_63601345.3333333333333RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000395813032170_22201386.3333333333333RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000395813032304_35601386.3333333333333RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000395813032446_49901386.3333333333333RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000395813032583_63601386.3333333333333RepeatNote=Inhibitory domain 4
TgeneCASTchr5:96064893chr5:96089796ENST00000508830032170_2220792.0RepeatNote=Inhibitory domain 1
TgeneCASTchr5:96064893chr5:96089796ENST00000508830032304_3560792.0RepeatNote=Inhibitory domain 2
TgeneCASTchr5:96064893chr5:96089796ENST00000508830032446_4990792.0RepeatNote=Inhibitory domain 3
TgeneCASTchr5:96064893chr5:96089796ENST00000508830032583_6360792.0RepeatNote=Inhibitory domain 4

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCASTchr5:96064893chr5:96089796ENST00000309190-129170_22201330.0RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000309190-129304_35601330.0RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000309190-129446_49901330.0RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000309190-129583_63601330.0RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000325674-130170_22201351.3333333333333RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000325674-130304_35601351.3333333333333RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000325674-130446_49901351.3333333333333RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000325674-130583_63601351.3333333333333RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000338252-131170_2220863.0RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000338252-131304_3560863.0RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000338252-131446_4990863.0RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000338252-131583_6360863.0RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000341926-130170_2220726.3333333333334RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000341926-130304_3560726.3333333333334RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000341926-130446_4990726.3333333333334RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000341926-130583_6360726.3333333333334RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000359176-131170_22201367.3333333333333RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000359176-131304_35601367.3333333333333RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000359176-131446_49901367.3333333333333RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000359176-131583_63601367.3333333333333RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000395812-130170_22201345.3333333333333RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000395812-130304_35601345.3333333333333RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000395812-130446_49901345.3333333333333RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000395812-130583_63601345.3333333333333RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000395813-132170_22201386.3333333333333RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000395813-132304_35601386.3333333333333RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000395813-132446_49901386.3333333333333RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000395813-132583_63601386.3333333333333RepeatNote=Inhibitory domain 4
HgeneCASTchr5:96064893chr5:96089796ENST00000508830-132170_2220792.0RepeatNote=Inhibitory domain 1
HgeneCASTchr5:96064893chr5:96089796ENST00000508830-132304_3560792.0RepeatNote=Inhibitory domain 2
HgeneCASTchr5:96064893chr5:96089796ENST00000508830-132446_4990792.0RepeatNote=Inhibitory domain 3
HgeneCASTchr5:96064893chr5:96089796ENST00000508830-132583_6360792.0RepeatNote=Inhibitory domain 4


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Fusion Gene Sequence for CAST-CAST


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 CAST-CAST


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 CAST-CAST


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 CAST-CAST


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASTC0027540Necrosis1CTD_human
HgeneCASTC0162557Liver Failure, Acute1CTD_human
HgeneCASTC4225381PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0027540Necrosis1CTD_human
TgeneC0162557Liver Failure, Acute1CTD_human
TgeneC4225381PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS1CTD_human;GENOMICS_ENGLAND;ORPHANET