Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ADIPOR2-CASK (FusionGDB2 ID:HG79602TG8573)

Fusion Gene Summary for ADIPOR2-CASK

check button Fusion gene summary
Fusion gene informationFusion gene name: ADIPOR2-CASK
Fusion gene ID: hg79602tg8573
HgeneTgene
Gene symbol

ADIPOR2

CASK

Gene ID

79602

8573

Gene nameadiponectin receptor 2calcium/calmodulin dependent serine protein kinase
SynonymsACDCR2|PAQR2CAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASK
Cytomap('ADIPOR2')('CASK')

12p13.33

Xp11.4

Type of geneprotein-codingprotein-coding
Descriptionadiponectin receptor protein 2progestin and adipoQ receptor family member 2progestin and adipoQ receptor family member IIperipheral plasma membrane protein CASKcalcium/calmodulin-dependent serin protein kinasecalcium/calmodulin-dependent serine protein kinase (MAGUK family)calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinaseprotein lin
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000357103, ENST00000544470, 
Fusion gene scores* DoF score18 X 10 X 8=144015 X 14 X 9=1890
# samples 2217
** MAII scorelog2(22/1440*10)=-2.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1890*10)=-3.47477958297073
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointADIPOR2(1800379)-CASK(41383287), # samples:2
ADIPOR2(1800357)-CASK(41383287), # samples:2
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
HgeneADIPOR2

GO:0033211

adiponectin-activated signaling pathway

12802337

TgeneCASK

GO:0010839

negative regulation of keratinocyte proliferation

18664494



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
ChimerDB4ESCATCGA-L5-A43M-01AADIPOR2chr12

1800379

+CASKchrX

41383287

-
ChimerDB4ESCATCGA-L5-A43MADIPOR2chr12

1800357

+CASKchrX

41383287

-
ChimerDB4ESCATCGA-L5-A43MADIPOR2chr12

1800379

+CASKchrX

41383287

-
ChimerDB4ESCATCGA-L5-A43MADIPOR2chr12

1812148

+CASKchrX

41383287

-


Top

Fusion Gene ORF analysis for ADIPOR2-CASK

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
5UTR-3CDSENST00000357103ENST00000318588ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-3CDSENST00000357103ENST00000361962ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-3CDSENST00000357103ENST00000378158ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-3CDSENST00000357103ENST00000378163ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-3CDSENST00000357103ENST00000378166ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-3CDSENST00000357103ENST00000421587ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-3CDSENST00000357103ENST00000442742ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-intronENST00000357103ENST00000378154ADIPOR2chr12

1800357

+CASKchrX

41383287

-
5UTR-intronENST00000357103ENST00000472704ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000318588ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000318588ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000361962ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000361962ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000378158ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000378158ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000378163ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000378163ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000378166ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000378166ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000421587ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000421587ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000442742ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000357103ENST00000442742ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000318588ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000318588ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000318588ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000361962ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000361962ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000361962ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378158ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378158ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378158ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378163ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378163ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378163ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378166ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378166ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000378166ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000421587ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000421587ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000421587ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000442742ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000442742ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-3CDSENST00000544470ENST00000442742ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-intronENST00000357103ENST00000378154ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-intronENST00000357103ENST00000378154ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-intronENST00000357103ENST00000472704ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-intronENST00000357103ENST00000472704ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-intronENST00000544470ENST00000378154ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-intronENST00000544470ENST00000378154ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-intronENST00000544470ENST00000378154ADIPOR2chr12

1812148

+CASKchrX

41383287

-
intron-intronENST00000544470ENST00000472704ADIPOR2chr12

1800379

+CASKchrX

41383287

-
intron-intronENST00000544470ENST00000472704ADIPOR2chr12

1800357

+CASKchrX

41383287

-
intron-intronENST00000544470ENST00000472704ADIPOR2chr12

1812148

+CASKchrX

41383287

-

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

Top

Fusion Genomic Features for ADIPOR2-CASK


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)


Top

Fusion Protein Features for ADIPOR2-CASK


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/:1800379/:41383287)
- 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


Top

Fusion Gene Sequence for ADIPOR2-CASK


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.

Top

Fusion Gene PPI Analysis for ADIPOR2-CASK


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


Top

Related Drugs for ADIPOR2-CASK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ADIPOR2-CASK


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
TgeneC0796250PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME8CLINGEN
TgeneC1845546FG SYNDROME 4 (disorder)4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2677903Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1136249Mental Retardation, X-Linked2CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007760Cerebellar Diseases1CTD_human
TgeneC0008925Cleft Palate1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0025958Microcephaly1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0393706Early infantile epileptic encephalopathy with suppression bursts1ORPHANET
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC1956147Microlissencephaly1CTD_human
TgeneC3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneC3853041Severe Congenital Microcephaly1CTD_human