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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:CALM1-APOBEC2 (FusionGDB2 ID:12577)

Fusion Gene Summary for CALM1-APOBEC2

check button Fusion gene summary
Fusion gene informationFusion gene name: CALM1-APOBEC2
Fusion gene ID: 12577
HgeneTgene
Gene symbol

CALM1

APOBEC2

Gene ID

801

10930

Gene namecalmodulin 1apolipoprotein B mRNA editing enzyme catalytic subunit 2
SynonymsCALML2|CAM2|CAM3|CAMB|CAMC|CAMI|CAMIII|CPVT4|DD132|LQT14|PHKD|caMARCD1|ARP1
Cytomap

14q32.11

6p21.1

Type of geneprotein-codingprotein-coding
Descriptioncalmodulin-1Calmodulin-2Calmodulin-3calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1C->U-editing enzyme APOBEC-2apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2mRNA(cytosine(6666)) deaminase 2probable C->U-editing enzyme APOBEC-2
Modification date2020032920200313
UniProtAcc

P0DP23

.
Ensembl transtripts involved in fusion geneENST00000356978, ENST00000447653, 
ENST00000555132, ENST00000553542, 
ENST00000544280, 		ENST00000244669, 
Fusion gene scores* DoF score13 X 13 X 3=5073 X 2 X 3=18
# samples 153
** MAII scorelog2(15/507*10)=-1.75702324650746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CALM1 [Title/Abstract] AND APOBEC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCALM1(90872653)-APOBEC2(41029533), # 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
HgeneCALM1

GO:0010880

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

20226167

HgeneCALM1

GO:0032516

positive regulation of phosphoprotein phosphatase activity

8631777

HgeneCALM1

GO:0035307

positive regulation of protein dephosphorylation

8631777

HgeneCALM1

GO:0051343

positive regulation of cyclic-nucleotide phosphodiesterase activity

8631777

HgeneCALM1

GO:0051592

response to calcium ion

7607248

HgeneCALM1

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

22067155

HgeneCALM1

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

26164367

HgeneCALM1

GO:0060316

positive regulation of ryanodine-sensitive calcium-release channel activity

20226167

TgeneAPOBEC2

GO:0016554

cytidine to uridine editing

10403781

TgeneAPOBEC2

GO:0080111

DNA demethylation

21496894


check buttonFusion gene breakpoints across CALM1 (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 APOBEC2 (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
ChiTaRS5.0N/AAA496229CALM1chr14

90872653

+APOBEC2chr6

41029533

+


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Fusion Gene ORF analysis for CALM1-APOBEC2

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
3UTR-3CDSENST00000356978ENST00000244669CALM1chr14

90872653

+APOBEC2chr6

41029533

+
intron-3CDSENST00000447653ENST00000244669CALM1chr14

90872653

+APOBEC2chr6

41029533

+
intron-3CDSENST00000555132ENST00000244669CALM1chr14

90872653

+APOBEC2chr6

41029533

+
intron-3CDSENST00000553542ENST00000244669CALM1chr14

90872653

+APOBEC2chr6

41029533

+
intron-3CDSENST00000544280ENST00000244669CALM1chr14

90872653

+APOBEC2chr6

41029533

+

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 CALM1-APOBEC2


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.

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 CALM1-APOBEC2


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
CALM1

P0DP23

.
FUNCTION: Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029). Acts as a sensor to modulate the endomplasmic reticulum contacts with other organelles mediated by VMP1:ATP2A2 (PubMed:28890335). {ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:23893133, ECO:0000269|PubMed:26969752, ECO:0000269|PubMed:27165696, ECO:0000269|PubMed:28890335, ECO:0000269|PubMed:31454269}.; FUNCTION: (Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity. {ECO:0000269|PubMed:31330532}.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


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Fusion Gene Sequence for CALM1-APOBEC2


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 CALM1-APOBEC2


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 CALM1-APOBEC2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCALM1P0DP23DB00623FluphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00623FluphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00623FluphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00623FluphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00836LoperamideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00836LoperamideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00836LoperamideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00836LoperamideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00850PerphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00850PerphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00850PerphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00850PerphenazineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00925PhenoxybenzamineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00925PhenoxybenzamineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00925PhenoxybenzamineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB00925PhenoxybenzamineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01100PimozideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01100PimozideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01100PimozideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01100PimozideInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCALM1P0DP23DB04841FlunarizineAntagonistSmall moleculeApproved
HgeneCALM1P0DP23DB04841FlunarizineAntagonistSmall moleculeApproved
HgeneCALM1P0DP23DB04841FlunarizineAntagonistSmall moleculeApproved
HgeneCALM1P0DP23DB04841FlunarizineAntagonistSmall moleculeApproved
HgeneCALM1P0DP23DB11348Calcium PhosphateAgonistSmall moleculeApproved
HgeneCALM1P0DP23DB11348Calcium PhosphateAgonistSmall moleculeApproved
HgeneCALM1P0DP23DB11348Calcium PhosphateAgonistSmall moleculeApproved
HgeneCALM1P0DP23DB11348Calcium PhosphateAgonistSmall moleculeApproved
HgeneCALM1P0DP23DB14481Calcium phosphate dihydrateSmall moleculeApproved
HgeneCALM1P0DP23DB14481Calcium phosphate dihydrateSmall moleculeApproved
HgeneCALM1P0DP23DB14481Calcium phosphate dihydrateSmall moleculeApproved
HgeneCALM1P0DP23DB14481Calcium phosphate dihydrateSmall moleculeApproved
HgeneCALM1P0DP23DB13800Calcium levulinateAgonistSmall moleculeApproved|Experimental
HgeneCALM1P0DP23DB13800Calcium levulinateAgonistSmall moleculeApproved|Experimental
HgeneCALM1P0DP23DB13800Calcium levulinateAgonistSmall moleculeApproved|Experimental
HgeneCALM1P0DP23DB13800Calcium levulinateAgonistSmall moleculeApproved|Experimental
HgeneCALM1P0DP23DB00622NicardipineOther/unknownSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00622NicardipineOther/unknownSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00622NicardipineOther/unknownSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00622NicardipineOther/unknownSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00831TrifluoperazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00831TrifluoperazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00831TrifluoperazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00831TrifluoperazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01023FelodipineOtherSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01023FelodipineOtherSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01023FelodipineOtherSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01023FelodipineOtherSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01069PromethazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01069PromethazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01069PromethazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB01069PromethazineInhibitorSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational
HgeneCALM1P0DP23DB00477ChlorpromazineInhibitorSmall moleculeApproved|Investigational|Vet_approved
HgeneCALM1P0DP23DB00477ChlorpromazineInhibitorSmall moleculeApproved|Investigational|Vet_approved
HgeneCALM1P0DP23DB00477ChlorpromazineInhibitorSmall moleculeApproved|Investigational|Vet_approved
HgeneCALM1P0DP23DB00477ChlorpromazineInhibitorSmall moleculeApproved|Investigational|Vet_approved
HgeneCALM1P0DP23DB01065MelatoninSmall moleculeApproved|Nutraceutical|Vet_approved
HgeneCALM1P0DP23DB01065MelatoninSmall moleculeApproved|Nutraceutical|Vet_approved
HgeneCALM1P0DP23DB01065MelatoninSmall moleculeApproved|Nutraceutical|Vet_approved
HgeneCALM1P0DP23DB01065MelatoninSmall moleculeApproved|Nutraceutical|Vet_approved
HgeneCALM1P0DP23DB00527CinchocaineInhibitorSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00527CinchocaineInhibitorSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00527CinchocaineInhibitorSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00527CinchocaineInhibitorSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00753IsofluraneOther/unknownSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00753IsofluraneOther/unknownSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00753IsofluraneOther/unknownSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB00753IsofluraneOther/unknownSmall moleculeApproved|Vet_approved
HgeneCALM1P0DP23DB01244BepridilBinderSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB01244BepridilBinderSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB01244BepridilBinderSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB01244BepridilBinderSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB04825PrenylamineSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB04825PrenylamineSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB04825PrenylamineSmall moleculeApproved|Withdrawn
HgeneCALM1P0DP23DB04825PrenylamineSmall moleculeApproved|Withdrawn

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Related Diseases for CALM1-APOBEC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCALM1C4015671LONG QT SYNDROME 147CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCALM1C3554047VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 46GENOMICS_ENGLAND;UNIPROT
HgeneCALM1C0035828Romano-Ward Syndrome2ORPHANET
HgeneCALM1C1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCALM1C0002395Alzheimer's Disease1CTD_human
HgeneCALM1C0006868Cannabis Abuse1CTD_human
HgeneCALM1C0006870Cannabis Dependence1CTD_human
HgeneCALM1C0009171Cocaine Abuse1CTD_human
HgeneCALM1C0011265Presenile dementia1CTD_human
HgeneCALM1C0018614Hashish Abuse1CTD_human
HgeneCALM1C0024809Marijuana Abuse1CTD_human
HgeneCALM1C0031391Phencyclidine Abuse1CTD_human
HgeneCALM1C0043094Weight Gain1CTD_human
HgeneCALM1C0236735Cannabis-Related Disorder1CTD_human
HgeneCALM1C0236736Cocaine-Related Disorders1CTD_human
HgeneCALM1C0236742Phencyclidine-Related Disorders1CTD_human
HgeneCALM1C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneCALM1C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneCALM1C0546126Acute Confusional Senile Dementia1CTD_human
HgeneCALM1C0600427Cocaine Dependence1CTD_human
HgeneCALM1C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneCALM1C0750901Alzheimer Disease, Early Onset1CTD_human