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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:ARMC8-CACNA2D2 (FusionGDB2 ID:HG25852TG9254)

Fusion Gene Summary for ARMC8-CACNA2D2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARMC8-CACNA2D2
Fusion gene ID: hg25852tg9254
HgeneTgene
Gene symbol

ARMC8

CACNA2D2

Gene ID

25852

9254

Gene namearmadillo repeat containing 8calcium voltage-gated channel auxiliary subunit alpha2delta 2
SynonymsGID5|HSPC056|S863-2|VID28CACNA2D|CASVDD
Cytomap('ARMC8')('CACNA2D2')

3q22.3

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionarmadillo repeat-containing protein 8GID complex subunit 5, VID28 homologvoltage-dependent calcium channel subunit alpha-2/delta-2alpha 2 delta calcium channel subunitcalcium channel, voltage-dependent, alpha 2/delta subunit 2gene 26voltage-gated calcium channel subunit alpha-2/delta-2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000393058, ENST00000461822, 
ENST00000469044, ENST00000481646, 
ENST00000485396, ENST00000491704, 
ENST00000538260, ENST00000358441, 
ENST00000470821, ENST00000471453, 
ENST00000489213, 
Fusion gene scores* DoF score11 X 11 X 5=6059 X 8 X 5=360
# samples 1310
** MAII scorelog2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARMC8 [Title/Abstract] AND CACNA2D2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARMC8(138007962)-CACNA2D2(50513630), # samples:2
Anticipated loss of major functional domain due to fusion event.ARMC8-CACNA2D2 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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 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
ChimerDB4BLCATCGA-XF-A9ST-01AARMC8chr3

138007962

-CACNA2D2chr3

50513630

-
ChimerDB4BLCATCGA-XF-A9ST-01AARMC8chr3

138007962

+CACNA2D2chr3

50513630

-


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Fusion Gene ORF analysis for ARMC8-CACNA2D2

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-5UTRENST00000393058ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000393058ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000461822ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000469044ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000481646ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000485396ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000491704ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
5CDS-5UTRENST00000538260ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000393058ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000461822ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000469044ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000481646ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000485396ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000491704ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
Frame-shiftENST00000538260ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000358441ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000470821ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000471453ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000266039ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000395083ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000423994ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000429770ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-3CDSENST00000489213ENST00000435965ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000358441ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000470821ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000471453ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000360963ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000424201ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000479441ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-
intron-5UTRENST00000489213ENST00000487413ARMC8chr3

138007962

+CACNA2D2chr3

50513630

-

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 ARMC8-CACNA2D2


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 ARMC8-CACNA2D2


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/:138007962/:50513630)
- 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


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Fusion Gene Sequence for ARMC8-CACNA2D2


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 ARMC8-CACNA2D2


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 ARMC8-CACNA2D2


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 ARMC8-CACNA2D2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0004134Ataxia2CTD_human;GENOMICS_ENGLAND
TgeneC0014553Absence Epilepsy2CTD_human;GENOMICS_ENGLAND
TgeneC0001890Akinetic Petit Mal1CTD_human
TgeneC0008489Chorea1CTD_human
TgeneC0014544Epilepsy1GENOMICS_ENGLAND
TgeneC0021361Female infertility1CTD_human
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0152113Rheumatic Chorea1CTD_human
TgeneC0238056Chorea, Senile1CTD_human
TgeneC0240991Ataxia, Sensory1CTD_human
TgeneC0278161Ataxia, Motor1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0393584Benign Hereditary Chorea1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0427190Ataxia, Truncal1CTD_human
TgeneC0520966Abnormal coordination1CTD_human
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0699728Chronic progressive chorea1CTD_human
TgeneC0699731Hereditary Chorea1CTD_human
TgeneC0740279Cerebellar atrophy1GENOMICS_ENGLAND
TgeneC0750937Ataxia, Appendicular1CTD_human
TgeneC0750940Tremor, Rubral1CTD_human
TgeneC0751124Epilepsy, Absence, Atypical1CTD_human
TgeneC0752210Dyskinesias, Paroxysmal1CTD_human
TgeneC0917730Female sterility1CTD_human
TgeneC1384666hearing impairment1CTD_human
TgeneC4281785Childhood Absence Epilepsy1CTD_human
TgeneC4317339Juvenile Absence Epilepsy1CTD_human
TgeneC4552765Epilepsy, Minor1CTD_human
TgeneC4553705Absence Seizure Disorder1CTD_human