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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12355

FusionGeneSummary for EYA4_PKIB

check button Fusion gene summary
Fusion gene informationFusion gene name: EYA4_PKIB
Fusion gene ID: 12355
HgeneTgene
Gene symbol

EYA4

PKIB

Gene ID

2070

5570

Gene nameEYA transcriptional coactivator and phosphatase 4cAMP-dependent protein kinase inhibitor beta
SynonymsCMD1J|DFNA10PRKACN2
Cytomap

6q23.2

6q22.31

Type of geneprotein-codingprotein-coding
Descriptioneyes absent homolog 4dJ78N10.1 (eyes absent)eyes absent-like protein 4cAMP-dependent protein kinase inhibitor betaPKI-betacAMP-dependent protein kinase inhibitor 2protein kinase (cAMP-dependent, catalytic) inhibitor beta
Modification date2018052320180523
UniProtAcc

O95677

Q9C010

Ensembl transtripts involved in fusion geneENST00000452339, ENST00000430974, 
ENST00000367895, ENST00000355167, 
ENST00000355286, ENST00000531901, 
ENST00000525849, ENST00000431403, 
ENST00000441015, 		ENST00000392491, 
ENST00000607474, ENST00000368452, 
ENST00000368448, ENST00000392490, 
ENST00000258014, ENST00000354275, 
ENST00000368446, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 4 X 5=120
# samples 36
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: EYA4 [Title/Abstract] AND PKIB [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-DX-A1KZ-01AEYA4chr6

133846253

+PKIBchr6

122954428

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000452339ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000452339ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000452339ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000452339ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000452339ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000452339ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000452339ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000452339ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000430974ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000430974ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000430974ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000430974ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000430974ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000430974ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000430974ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000430974ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000367895ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000367895ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000367895ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000367895ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000367895ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000367895ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000367895ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000367895ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000355167ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000355167ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000355167ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000355167ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000355167ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000355167ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000355167ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000355167ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000355286ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000355286ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000355286ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000355286ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000355286ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000355286ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000355286ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000355286ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000531901ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000531901ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000531901ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000531901ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000531901ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000531901ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000531901ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000531901ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000525849ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000525849ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000525849ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000525849ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000525849ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000525849ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000525849ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000525849ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000431403ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000431403ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000431403ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000431403ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-5UTRENST00000431403ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000431403ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000431403ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
5CDS-intronENST00000431403ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000441015ENST00000392491EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000441015ENST00000607474EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000441015ENST00000368452EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000441015ENST00000368448EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-5UTRENST00000441015ENST00000392490EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000441015ENST00000258014EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000441015ENST00000354275EYA4chr6

133846253

+PKIBchr6

122954428

+
intron-intronENST00000441015ENST00000368446EYA4chr6

133846253

+PKIBchr6

122954428

+

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FusionProtFeatures for EYA4_PKIB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EYA4

O95677

PKIB

Q9C010

Tyrosine phosphatase that specifically dephosphorylates'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylationof histone H2AX plays a central role in DNA repair and acts as amark that distinguishes between apoptotic and repair responses togenotoxic stress. Promotes efficient DNA repair bydephosphorylating H2AX, promoting the recruitment of DNA repaircomplexes containing MDC1. Its function as histone phosphataseprobably explains its role in transcription regulation duringorganogenesis. May be involved in development of the eye (Bysimilarity). {ECO:0000250|UniProtKB:Q99502}. Extremely potent competitive inhibitor of cAMP-dependentprotein kinase activity, this protein interacts with the catalyticsubunit of the enzyme after the cAMP-induced dissociation of itsregulatory chains. {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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FusionGeneSequence for EYA4_PKIB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EYA4_PKIB


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
EYA4SIX1, FOXJ2, DCTPP1, ERC1, RPA2, RPA3, SIX2, SIX4, SUPT5H, EYA4, SCO1, EOGT, SLC25A15, SCO2, BAG3, GLO1, PKP2, MAPK1IP1L, COQ5, DDI2, HELZ, SOAT1, PFDN2, AATK, ERBB3, PLEC, AAK1, SEC24B, CCDC88A, UBE2D2, DVL3, PPIP5K2, LUZP1, QSER1, URGCPPKIBE2F1, E2F3, PIN1, LY6D, NLGN3


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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RelatedDrugs for EYA4_PKIB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EYA4_PKIB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEYA4C1832476Deafness, Autosomal Dominant 102CTD_human;UNIPROT
HgeneEYA4C0009404Colorectal Neoplasms1CTD_human