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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:ACAP2-CALM2 (FusionGDB2 ID:HG23527TG805)

Fusion Gene Summary for ACAP2-CALM2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAP2-CALM2
Fusion gene ID: hg23527tg805
HgeneTgene
Gene symbol

ACAP2

CALM2

Gene ID

23527

805

Gene nameArfGAP with coiled-coil, ankyrin repeat and PH domains 2calmodulin 2
SynonymsCENTB2|CNT-B2CALM|CALML2|CAM1|CAM3|CAMC|CAMII|CAMIII|LQT15|PHKD|PHKD2|caM
Cytomap('ACAP2')('CALM2')

3q29

2p21

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2calmodulin-2Calmodulin-1Calmodulin-3LP7057 proteincalmodulin 2 (phosphorylase kinase, delta)phosphorylase kinase deltaphosphorylase kinase subunit deltaprepro-calmodulin 2
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000326793, ENST00000472860, 
Fusion gene scores* DoF score16 X 14 X 11=246414 X 8 X 7=784
# samples 2213
** MAII scorelog2(22/2464*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/784*10)=-2.59234203108675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACAP2 [Title/Abstract] AND CALM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACAP2(195063200)-CALM2(47397903), # samples:1
Anticipated loss of major functional domain due to fusion event.ACAP2-CALM2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACAP2-CALM2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneACAP2

GO:0030029

actin filament-based process

11062263

TgeneCALM2

GO:0010880

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

20226167

TgeneCALM2

GO:0032516

positive regulation of phosphoprotein phosphatase activity

8631777

TgeneCALM2

GO:0035307

positive regulation of protein dephosphorylation

8631777

TgeneCALM2

GO:0051343

positive regulation of cyclic-nucleotide phosphodiesterase activity

8631777

TgeneCALM2

GO:0051592

response to calcium ion

7607248

TgeneCALM2

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

26164367

TgeneCALM2

GO:0060316

positive regulation of ryanodine-sensitive calcium-release channel activity

20226167


check buttonFusion gene breakpoints across ACAP2 (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 CALM2 (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
ChimerDB4BRCATCGA-D8-A1XL-01AACAP2chr3

195063200

-CALM2chr2

47397903

-


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Fusion Gene ORF analysis for ACAP2-CALM2

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-5UTRENST00000326793ENST00000409563ACAP2chr3

195063200

-CALM2chr2

47397903

-
5CDS-5UTRENST00000326793ENST00000484408ACAP2chr3

195063200

-CALM2chr2

47397903

-
In-frameENST00000326793ENST00000272298ACAP2chr3

195063200

-CALM2chr2

47397903

-
intron-3CDSENST00000472860ENST00000272298ACAP2chr3

195063200

-CALM2chr2

47397903

-
intron-5UTRENST00000472860ENST00000409563ACAP2chr3

195063200

-CALM2chr2

47397903

-
intron-5UTRENST00000472860ENST00000484408ACAP2chr3

195063200

-CALM2chr2

47397903

-

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)
ENST00000326793ACAP2chr3195063200-ENST00000272298CALM2chr247397903-19007592131205330

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
ENST00000326793ENST00000272298ACAP2chr3195063200-CALM2chr247397903-0.0001210570.9998789

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Fusion Genomic Features for ACAP2-CALM2


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 ACAP2-CALM2


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/chr3:195063200/chr2:47397903)
- 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
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-6231_226176779.0DomainNote=BAR
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-623266_361176779.0DomainPH
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-623399_520176779.0DomainArf-GAP
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-623640_669176779.0RepeatNote=ANK 1
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-623673_702176779.0RepeatNote=ANK 2
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-623706_735176779.0RepeatNote=ANK 3
HgeneACAP2chr3:195063200chr2:47397903ENST00000326793-623414_437176779.0Zinc fingerC4-type


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Fusion Gene Sequence for ACAP2-CALM2


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.
>1215_1215_1_ACAP2-CALM2_ACAP2_chr3_195063200_ENST00000326793_CALM2_chr2_47397903_ENST00000272298_length(transcript)=1900nt_BP=759nt
CGTTTCCCTGCGGCCAGCGCTCTACTTGGGGCGGGAGGAAGAGGGGCGGGACTGGGGCCTGACTAGTCGTCGCCGTCTTCGCGGCTGCTA
TGACCAGCGGGCGAGGCGCCCTTCGCAGCTCCGCGCAACGCTAGTCGCGGCCGTGCGCCCGCCGTAGCCGTCTGCGTCCCAGCGCGGCCG
CTCCCGCGGCCCCCTCGGCTTTGCCAGCGCCGCCTGCGAGGCGGAGGCAGGATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGAC
TCGCCCCGCTTCAGGGCAGCTTTGGAAGAAGTAGAAGGTGATGTGGCAGAATTGGAACTAAAACTTGATAAGCTTGTGAAACTTTGTATT
GCAATGATTGATACTGGAAAAGCCTTTTGTGTTGCAAATAAACAGTTCATGAATGGGATTCGAGACCTGGCTCAGTATTCTAGTAATGAT
GCTGTCGTTGAGACAAGTTTGACCAAGTTTTCTGACAGTCTTCAAGAAATGATAAATTTTCACACAATCCTGTTTGACCAAACTCAGAGA
TCAATTAAGGCACAGCTTCAGAACTTTGTTAAAGAAGATCTTAGAAAATTCAAAGATGCCAAGAAGCAATTCGAAAAAGTCAGTGAAGAA
AAAGAAAATGCGTTAGTAAAAAATGCCCAAGTACAAAGAAACAAACAACATGAAGTTGAAGAAGCCACCAACATTCTGACAGCAACAAGA
AAATGTTTCCGACACATAGCCCTCGATTATGTGCTTCAGGCTGACCAACTGACTGAAGAGCAGATTGCAGAATTCAAAGAAGCTTTTTCA
CTATTTGACAAAGATGGTGATGGAACTATAACAACAAAGGAATTGGGAACTGTAATGAGATCTCTTGGGCAGAATCCCACAGAAGCAGAG
TTACAGGACATGATTAATGAAGTAGATGCTGATGGTAATGGCACAATTGACTTCCCTGAATTTCTGACAATGATGGCAAGAAAAATGAAA
GACACAGACAGTGAAGAAGAAATTAGAGAAGCATTCCGTGTGTTTGATAAGGATGGCAATGGCTATATTAGTGCTGCAGAACTTCGCCAT
GTGATGACAAACCTTGGAGAGAAGTTAACAGATGAAGAAGTTGATGAAATGATCAGGGAAGCAGATATTGATGGTGATGGTCAAGTAAAC
TATGAAGAGTTTGTACAAATGATGACAGCAAAGTGAAGACCTTGTACAGAATGTGTTAAATTTCTTGTACAAAATTGTTTATTTGCCTTT
TCTTTGTTTGTAACTTATCTGTAAAAGGTTTCTCCCTACTGTCAAAAAAATATGCATGTATAGTAATTAGGACTTCATTCCTCCATGTTT
TCTTCCCTTATCTTACTGTCATTGTCCTAAAACCTTATTTTAGAAAATTGATCAAGTAACATGTTGCATGTGGCTTACTCTGGATATATC
TAAGCCCTTCTGCACATCTAAACTTAGATGGAGTTGGTCAAATGAGGGAACATCTGGGTTATGCCTTTTTTAAAGTAGTTTTCTTTAGGA
ACTGTCAGCATGTTGTTGTTGAAGTGTGGAGTTGTAACTCTGCGTGGACTATGGACAGTCAACAATATGTACTTAAAAGTTGCACTATTG
CAAAACGGGTGTATTATCCAGGTACTCGTACACTATTTTTTTGTACTGCTGGTCCTGTACCAGAAACATTTTCTTTTATTGTTACTTGCT
TTTTAAACTTTGTTTAGCCACTTAAAATCTGCTTATGGCACAATTTGCCTCAAAATCCATTCCAAGTTGTATATTTGTTTTCCAATAAAA
AAATTACAATTTACCCAATGGTTGCTCTGCATCTGAGTCATTTAACTGTTGAAGTCTAATAATTTTGAAAATAAAATATGGCATTGGTTT

>1215_1215_1_ACAP2-CALM2_ACAP2_chr3_195063200_ENST00000326793_CALM2_chr2_47397903_ENST00000272298_length(amino acids)=330AA_BP=180
MRGGGRMKMTVDFEECLKDSPRFRAALEEVEGDVAELELKLDKLVKLCIAMIDTGKAFCVANKQFMNGIRDLAQYSSNDAVVETSLTKFS
DSLQEMINFHTILFDQTQRSIKAQLQNFVKEDLRKFKDAKKQFEKVSEEKENALVKNAQVQRNKQHEVEEATNILTATRKCFRHIALDYV
LQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREA

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

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Fusion Gene PPI Analysis for ACAP2-CALM2


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 ACAP2-CALM2


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 ACAP2-CALM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4015695LONG QT SYNDROME 156CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0035828Romano-Ward Syndrome2ORPHANET
TgeneC0006868Cannabis Abuse1CTD_human
TgeneC0006870Cannabis Dependence1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0018614Hashish Abuse1CTD_human
TgeneC0024809Marijuana Abuse1CTD_human
TgeneC0031391Phencyclidine Abuse1CTD_human
TgeneC0236735Cannabis-Related Disorder1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0236742Phencyclidine-Related Disorders1CTD_human
TgeneC0588008Severe depression1PSYGENET
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC1142166Brugada Syndrome (disorder)1ORPHANET
TgeneC1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)1ORPHANET