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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:ADIPOR2-CACNA2D4 (FusionGDB2 ID:HG79602TG93589)

Fusion Gene Summary for ADIPOR2-CACNA2D4

check button Fusion gene summary
Fusion gene informationFusion gene name: ADIPOR2-CACNA2D4
Fusion gene ID: hg79602tg93589
HgeneTgene
Gene symbol

ADIPOR2

CACNA2D4

Gene ID

79602

93589

Gene nameadiponectin receptor 2calcium voltage-gated channel auxiliary subunit alpha2delta 4
SynonymsACDCR2|PAQR2RCD4
Cytomap('ADIPOR2')('CACNA2D4')

12p13.33

12p13.33

Type of geneprotein-codingprotein-coding
Descriptionadiponectin receptor protein 2progestin and adipoQ receptor family member 2progestin and adipoQ receptor family member IIvoltage-dependent calcium channel subunit alpha-2/delta-4calcium channel, voltage-dependent, alpha 2/delta subunit 4voltage-gated calcium channel alpha(2)delta-4 subunitvoltage-gated calcium channel subunit alpha-2/delta-4
Modification date2020031320200320
UniProtAcc.

Q7Z3S7

Ensembl transtripts involved in fusion geneENST00000357103, ENST00000544470, 
Fusion gene scores* DoF score18 X 10 X 8=14406 X 5 X 4=120
# samples 226
** MAII scorelog2(22/1440*10)=-2.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADIPOR2 [Title/Abstract] AND CACNA2D4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADIPOR2(1863680)-CACNA2D4(1919506), # samples:2
Anticipated loss of major functional domain due to fusion event.ADIPOR2-CACNA2D4 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.
ADIPOR2-CACNA2D4 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
HgeneADIPOR2

GO:0033211

adiponectin-activated signaling pathway

12802337

TgeneCACNA2D4

GO:0070588

calcium ion transmembrane transport

12181424


check buttonFusion gene breakpoints across ADIPOR2 (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 CACNA2D4 (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-C8-A26Z-01AADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-


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Fusion Gene ORF analysis for ADIPOR2-CACNA2D4

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-intronENST00000357103ENST00000538027ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
5CDS-intronENST00000357103ENST00000538450ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
5CDS-intronENST00000357103ENST00000539048ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
In-frameENST00000357103ENST00000382722ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
In-frameENST00000357103ENST00000585708ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
In-frameENST00000357103ENST00000585732ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
In-frameENST00000357103ENST00000586184ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
In-frameENST00000357103ENST00000587995ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
In-frameENST00000357103ENST00000588077ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-3CDSENST00000544470ENST00000382722ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-3CDSENST00000544470ENST00000585708ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-3CDSENST00000544470ENST00000585732ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-3CDSENST00000544470ENST00000586184ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-3CDSENST00000544470ENST00000587995ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-3CDSENST00000544470ENST00000588077ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-intronENST00000544470ENST00000538027ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-intronENST00000544470ENST00000538450ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-
intron-intronENST00000544470ENST00000539048ADIPOR2chr12

1863680

+CACNA2D4chr12

1919506

-

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 ADIPOR2-CACNA2D4


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 ADIPOR2-CACNA2D4


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/chr12:1863680/chr12:1919506)
- 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
.CACNA2D4

Q7Z3S7

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: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. {ECO:0000269|PubMed:12181424}.

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
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000038272227381137_11378861138.0Topological domainCytoplasmic
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000058570827371137_11378221091.0Topological domainCytoplasmic
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000058618427371137_11378861155.0Topological domainCytoplasmic
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000058807727381137_11378221074.0Topological domainCytoplasmic
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000038272227381116_11368861138.0TransmembraneHelical
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000058570827371116_11368221091.0TransmembraneHelical
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000058618427371116_11368861155.0TransmembraneHelical
TgeneCACNA2D4chr12:1863680chr12:1919506ENST0000058807727381116_11368221074.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28169_18157387.0Topological domainExtracellular
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+281_14757387.0Topological domainCytoplasmic
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28203_21357387.0Topological domainCytoplasmic
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28235_24557387.0Topological domainExtracellular
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28267_27357387.0Topological domainCytoplasmic
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28295_30957387.0Topological domainExtracellular
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28331_34857387.0Topological domainCytoplasmic
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28370_38657387.0Topological domainExtracellular
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28148_16857387.0TransmembraneHelical%3B Name%3D1
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28182_20257387.0TransmembraneHelical%3B Name%3D2
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28214_23457387.0TransmembraneHelical%3B Name%3D3
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28246_26657387.0TransmembraneHelical%3B Name%3D4
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28274_29457387.0TransmembraneHelical%3B Name%3D5
HgeneADIPOR2chr12:1863680chr12:1919506ENST00000357103+28349_36957387.0TransmembraneHelical%3B Name%3D7
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000003827222738291_4738861138.0DomainVWFA
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000003827222738487_5808861138.0DomainNote=Cache
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005857082737291_4738221091.0DomainVWFA
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005857082737487_5808221091.0DomainNote=Cache
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005861842737291_4738861155.0DomainVWFA
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005861842737487_5808861155.0DomainNote=Cache
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005880772738291_4738221074.0DomainVWFA
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005880772738487_5808221074.0DomainNote=Cache
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000003827222738297_3018861138.0MotifNote=MIDAS-like motif
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005857082737297_3018221091.0MotifNote=MIDAS-like motif
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005861842737297_3018861155.0MotifNote=MIDAS-like motif
TgeneCACNA2D4chr12:1863680chr12:1919506ENST000005880772738297_3018221074.0MotifNote=MIDAS-like motif
TgeneCACNA2D4chr12:1863680chr12:1919506ENST00000382722273820_11158861138.0Topological domainExtracellular
TgeneCACNA2D4chr12:1863680chr12:1919506ENST00000585708273720_11158221091.0Topological domainExtracellular
TgeneCACNA2D4chr12:1863680chr12:1919506ENST00000586184273720_11158861155.0Topological domainExtracellular
TgeneCACNA2D4chr12:1863680chr12:1919506ENST00000588077273820_11158221074.0Topological domainExtracellular


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Fusion Gene Sequence for ADIPOR2-CACNA2D4


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 ADIPOR2-CACNA2D4


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 ADIPOR2-CACNA2D4


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 ADIPOR2-CACNA2D4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADIPOR2C0021361Female infertility1CTD_human
HgeneADIPOR2C0038279Sterility, Postpartum1CTD_human
HgeneADIPOR2C0341869Subfertility, Female1CTD_human
HgeneADIPOR2C0917730Female sterility1CTD_human
TgeneC0339535Night blindness, congenital stationary2GENOMICS_ENGLAND;ORPHANET
TgeneC1864849RETINAL CONE DYSTROPHY 41CTD_human;GENOMICS_ENGLAND
TgeneC3489532Cone-Rod Dystrophy 21ORPHANET