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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-ACSM2B (FusionGDB2 ID:HG831TG348158)

Fusion Gene Summary for CAST-ACSM2B

check button Fusion gene summary
Fusion gene informationFusion gene name: CAST-ACSM2B
Fusion gene ID: hg831tg348158
HgeneTgene
Gene symbol

CAST

ACSM2B

Gene ID

831

348158

Gene namecalpastatinacyl-CoA synthetase medium chain family member 2B
SynonymsBS-17|PLACKACSM2|HXMA|HYST1046
Cytomap('CAST')('ACSM2B')

5q15

16p12.3

Type of geneprotein-codingprotein-coding
Descriptioncalpastatincalpain inhibitorsperm BS-17 componentacyl-coenzyme A synthetase ACSM2B, mitochondrialacyl-CoA synthetase medium-chain family member 2benzoate--CoA ligasebutyrate--CoA ligase 2Bbutyryl-coenzyme A synthetase 2Bmiddle-chain acyl-CoA synthetase 2Bxenobiotic/medium-chain fatty acid-CoA liga
Modification date2020031320200313
UniProtAcc

P20810

.
Ensembl transtripts involved in fusion geneENST00000325674, ENST00000359176, 
ENST00000395812, ENST00000395813, 
ENST00000508608, ENST00000508830, 
ENST00000510756, ENST00000338252, 
ENST00000309190, ENST00000341926, 
ENST00000348386, ENST00000504465, 
ENST00000508579, ENST00000509903, 
ENST00000511049, ENST00000511782, 
ENST00000515663, 
Fusion gene scores* DoF score11 X 11 X 6=7263 X 2 X 2=12
# samples 133
** MAII scorelog2(13/726*10)=-2.4814579249673
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CAST [Title/Abstract] AND ACSM2B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAST(96011305)-ACSM2B(20576175), # 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



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
ChimerDB4KIRPTCGA-IA-A40XCASTchr5

96011305

+ACSM2Bchr16

20576175

-


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Fusion Gene ORF analysis for CAST-ACSM2B

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-5UTRENST00000325674ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000325674ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000325674ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000325674ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000359176ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000359176ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000359176ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000359176ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395812ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395812ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395812ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395812ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395813ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395813ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395813ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000395813ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508608ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508608ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508608ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508608ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508830ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508830ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508830ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000508830ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000510756ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000510756ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000510756ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-5UTRENST00000510756ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000325674ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000325674ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000359176ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000359176ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000395812ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000395812ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000395813ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000395813ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000508608ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000508608ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000508830ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000508830ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000510756ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5CDS-intronENST00000510756ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5UTR-5UTRENST00000338252ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5UTR-5UTRENST00000338252ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5UTR-5UTRENST00000338252ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5UTR-5UTRENST00000338252ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5UTR-intronENST00000338252ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
5UTR-intronENST00000338252ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000309190ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000309190ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000309190ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000309190ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000341926ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000341926ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000341926ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000341926ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000348386ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000348386ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000348386ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000348386ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000504465ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000504465ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000504465ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000504465ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000508579ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000508579ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000508579ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000508579ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000509903ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000509903ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000509903ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000509903ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511049ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511049ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511049ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511049ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511782ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511782ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511782ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000511782ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000515663ENST00000329697CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000515663ENST00000414188CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000515663ENST00000565232CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-5UTRENST00000515663ENST00000567001CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000309190ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000309190ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000341926ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000341926ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000348386ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000348386ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000504465ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000504465ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000508579ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000508579ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000509903ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000509903ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000511049ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000511049ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000511782ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000511782ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000515663ENST00000565322CASTchr5

96011305

+ACSM2Bchr16

20576175

-
intron-intronENST00000515663ENST00000567288CASTchr5

96011305

+ACSM2Bchr16

20576175

-

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-ACSM2B


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 CAST-ACSM2B


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/:96011305/:20576175)
- 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

.
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: 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 CAST-ACSM2B


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-ACSM2B


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-ACSM2B


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-ACSM2B


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