	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 12341

FusionGeneSummary for EYA1_EYA1

Fusion gene summary

Fusion gene information	Fusion gene name: EYA1_EYA1
	Fusion gene ID: 12341
		Hgene	Tgene
	Gene symbol	EYA1	EYA1
	Gene ID	2138	2138
	Gene name	EYA transcriptional coactivator and phosphatase 1	EYA transcriptional coactivator and phosphatase 1
	Synonyms	BOP\|BOR\|BOS1\|OFC1	BOP\|BOR\|BOS1\|OFC1
	Cytomap	8q13.3	8q13.3
	Type of gene	protein-coding	protein-coding
	Description	eyes absent homolog 1	eyes absent homolog 1
	Modification date	20180523	20180523
	UniProtAcc	Q99502	Q99502
	Ensembl transtripts involved in fusion gene	ENST00000388742, ENST00000340726, ENST00000388740, ENST00000303824, ENST00000388741, ENST00000388743, ENST00000419131,	ENST00000388742, ENST00000340726, ENST00000388740, ENST00000303824, ENST00000388741, ENST00000388743, ENST00000419131,
Fusion gene scores	* DoF score	1 X 2 X 1=2	2 X 3 X 2=12
	# samples	2	3
	** MAII score	log2(2/2*10)=3.32192809488736	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: EYA1 [Title/Abstract] AND EYA1 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	EYA1	GO:0010212	response to ionizing radiation	19234442
Hgene	EYA1	GO:0016576	histone dephosphorylation	19234442
Tgene	EYA1	GO:0010212	response to ionizing radiation	19234442
Tgene	EYA1	GO:0016576	histone dephosphorylation	19234442

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BI017781	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
ChiTaRS3.1			BF951576	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+

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

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000388742	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000340726	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388740	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000303824	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388741	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388743	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000388742	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000340726	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000388740	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000303824	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000388741	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000388743	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000419131	ENST00000419131	EYA1	chr8	72229926	+	EYA1	chr8	72211280	+
intron-intron	ENST00000388742	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388742	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388742	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388742	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388742	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388742	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388742	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000340726	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388740	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000303824	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388741	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000388743	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000388742	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000340726	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000388740	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000303824	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000388741	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000388743	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+
intron-intron	ENST00000419131	ENST00000419131	EYA1	chr8	72246411	+	EYA1	chr8	72211282	+

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FusionProtFeatures for EYA1_EYA1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
EYA1 Q99502	EYA1 Q99502
Functions both as protein phosphatase and astranscriptional coactivator for SIX1, and probably also for SIX2,SIX4 and SIX5 (By similarity). Tyrosine phosphatase thatdephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) andpromotes efficient DNA repair via the recruitment of DNA repaircomplexes containing MDC1. 'Tyr-142' phosphorylation of histoneH2AX plays a central role in DNA repair and acts as a mark thatdistinguishes between apoptotic and repair responses to genotoxicstress (PubMed:19234442). Its function as histone phosphatase maycontribute to its function in transcription regulation duringorganogenesis (By similarity). Has also phosphatase activity withproteins phosphorylated on Ser and Thr residues (in vitro) (Bysimilarity). Required for normal embryonic development of thecraniofacial and trunk skeleton, kidneys and ears (By similarity).Together with SIX1, it plays an important role in hypaxial muscledevelopment; in this it is functionally redundant with EYA2 (Bysimilarity). {ECO:0000250\|UniProtKB:P97767,ECO:0000269\|PubMed:19234442}.	Functions both as protein phosphatase and astranscriptional coactivator for SIX1, and probably also for SIX2,SIX4 and SIX5 (By similarity). Tyrosine phosphatase thatdephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) andpromotes efficient DNA repair via the recruitment of DNA repaircomplexes containing MDC1. 'Tyr-142' phosphorylation of histoneH2AX plays a central role in DNA repair and acts as a mark thatdistinguishes between apoptotic and repair responses to genotoxicstress (PubMed:19234442). Its function as histone phosphatase maycontribute to its function in transcription regulation duringorganogenesis (By similarity). Has also phosphatase activity withproteins phosphorylated on Ser and Thr residues (in vitro) (Bysimilarity). Required for normal embryonic development of thecraniofacial and trunk skeleton, kidneys and ears (By similarity).Together with SIX1, it plays an important role in hypaxial muscledevelopment; in this it is functionally redundant with EYA2 (Bysimilarity). {ECO:0000250\|UniProtKB:P97767,ECO:0000269\|PubMed:19234442}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for EYA1_EYA1

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 EYA1_EYA1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for EYA1_EYA1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for EYA1_EYA1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	EYA1	C0265234	Branchio-Oto-Renal Syndrome	7	CTD_human;ORPHANET;UNIPROT
Hgene	EYA1	C1865143	BRANCHIOOTIC SYNDROME 1	2	ORPHANET;UNIPROT
Hgene	EYA1	C0000768	Congenital Abnormality	1	CTD_human
Hgene	EYA1	C0018777	Conductive hearing loss	1	CTD_human;HPO
Hgene	EYA1	C0018798	Congenital Heart Defects	1	CTD_human
Hgene	EYA1	C0376634	Craniofacial Abnormalities	1	CTD_human
Hgene	EYA1	C0431406	Asymmetric crying face association	1	CTD_human
Tgene	EYA1	C0265234	Branchio-Oto-Renal Syndrome	7	CTD_human;ORPHANET;UNIPROT
Tgene	EYA1	C1865143	BRANCHIOOTIC SYNDROME 1	2	ORPHANET;UNIPROT
Tgene	EYA1	C0000768	Congenital Abnormality	1	CTD_human
Tgene	EYA1	C0018777	Conductive hearing loss	1	CTD_human;HPO
Tgene	EYA1	C0018798	Congenital Heart Defects	1	CTD_human
Tgene	EYA1	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	EYA1	C0431406	Asymmetric crying face association	1	CTD_human

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Fusion gene ID: 12341

FusionGeneSummary for EYA1_EYA1

FusionProtFeatures for EYA1_EYA1

FusionGeneSequence for EYA1_EYA1

FusionGenePPI for EYA1_EYA1

RelatedDrugs for EYA1_EYA1

RelatedDiseases for EYA1_EYA1