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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:CASK-EYA2 (FusionGDB2 ID:HG8573TG2139)

Fusion Gene Summary for CASK-EYA2

check button Fusion gene summary
Fusion gene informationFusion gene name: CASK-EYA2
Fusion gene ID: hg8573tg2139
HgeneTgene
Gene symbol

CASK

EYA2

Gene ID

8573

2139

Gene namecalcium/calmodulin dependent serine protein kinaseEYA transcriptional coactivator and phosphatase 2
SynonymsCAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASKEAB1
Cytomap('CASK')('EYA2')

Xp11.4

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionperipheral 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 lineyes absent homolog 2
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000318588, ENST00000361962, 
ENST00000378154, ENST00000378158, 
ENST00000378163, ENST00000378166, 
ENST00000421587, ENST00000442742, 
ENST00000472704, 
Fusion gene scores* DoF score13 X 12 X 5=78015 X 15 X 10=2250
# samples 1430
** MAII scorelog2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(30/2250*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASK [Title/Abstract] AND EYA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASK(41598637)-EYA2(45618640), # 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
HgeneCASK

GO:0010839

negative regulation of keratinocyte proliferation

18664494

TgeneEYA2

GO:0016576

histone dephosphorylation

19351884



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-A8-A08L-01ACASKchrX

41598637

-EYA2chr20

45618640

+


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Fusion Gene ORF analysis for CASK-EYA2

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-3UTRENST00000318588ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000318588ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000361962ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000361962ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378154ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378154ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378158ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378158ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378163ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378163ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378166ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000378166ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000421587ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000421587ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000442742ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-3UTRENST00000442742ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000318588ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000318588ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000361962ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000361962ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378154ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378154ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378158ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378158ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378163ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378163ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378166ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000378166ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000421587ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000421587ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000442742ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
5CDS-5UTRENST00000442742ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+
intron-3UTRENST00000472704ENST00000317304CASKchrX

41598637

-EYA2chr20

45618640

+
intron-3UTRENST00000472704ENST00000497428CASKchrX

41598637

-EYA2chr20

45618640

+
intron-5UTRENST00000472704ENST00000327619CASKchrX

41598637

-EYA2chr20

45618640

+
intron-5UTRENST00000472704ENST00000357410CASKchrX

41598637

-EYA2chr20

45618640

+

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 CASK-EYA2


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)
CASKchrX41598636-EYA2chr2045618639+2.95E-070.99999976
CASKchrX41598636-EYA2chr2045618639+2.95E-070.99999976


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.
genomic feature of top 1%

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Fusion Protein Features for CASK-EYA2


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/:41598637/:45618640)
- 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 CASK-EYA2


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 CASK-EYA2


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 CASK-EYA2


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 CASK-EYA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASKC0796250PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME8CLINGEN
HgeneCASKC1845546FG SYNDROME 4 (disorder)4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCASKC2677903Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCASKC1136249Mental Retardation, X-Linked2CTD_human
HgeneCASKC0007097Carcinoma1CTD_human
HgeneCASKC0007760Cerebellar Diseases1CTD_human
HgeneCASKC0008925Cleft Palate1CTD_human
HgeneCASKC0024667Animal Mammary Neoplasms1CTD_human
HgeneCASKC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneCASKC0025958Microcephaly1CTD_human
HgeneCASKC0205696Anaplastic carcinoma1CTD_human
HgeneCASKC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneCASKC0205698Undifferentiated carcinoma1CTD_human
HgeneCASKC0205699Carcinomatosis1CTD_human
HgeneCASKC0393706Early infantile epileptic encephalopathy with suppression bursts1ORPHANET
HgeneCASKC1257925Mammary Carcinoma, Animal1CTD_human
HgeneCASKC1535926Neurodevelopmental Disorders1CTD_human
HgeneCASKC1837218Cleft palate, isolated1CTD_human
HgeneCASKC1956147Microlissencephaly1CTD_human
HgeneCASKC3495676Anorectal Malformations1GENOMICS_ENGLAND
HgeneCASKC3853041Severe Congenital Microcephaly1CTD_human