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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: 21422

FusionGeneSummary for MECOM_EYA3

check button Fusion gene summary
Fusion gene informationFusion gene name: MECOM_EYA3
Fusion gene ID: 21422
HgeneTgene
Gene symbol

MECOM

EYA3

Gene ID

2122

2140

Gene nameMDS1 and EVI1 complex locusEYA transcriptional coactivator and phosphatase 3
SynonymsAML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2-
Cytomap

3q26.2

1p35.3

Type of geneprotein-codingprotein-coding
DescriptionMDS1 and EVI1 complex locus proteinMDS1 and EVI1 complex locus protein EVI1AML1-EVI-1 fusion proteinMDS1 and EVI1 complex locus protein MDS1PR domain 3ecotropic virus integration site 1 protein homologmyelodysplasia syndrome-associated protein 1onceyes absent homolog 3eyes absent 3
Modification date2018052220180523
UniProtAcc

Q03112

Q99504

Ensembl transtripts involved in fusion geneENST00000264674, ENST00000392736, 
ENST00000464456, ENST00000472280, 
ENST00000494292, ENST00000468789, 
ENST00000460814, ENST00000433243, 
ENST00000485957, 
ENST00000373871, 
ENST00000436342, ENST00000373864, 
ENST00000540618, ENST00000545175, 
ENST00000373863, ENST00000471498, 
Fusion gene scores* DoF score15 X 7 X 10=10502 X 2 X 2=8
# samples 212
** MAII scorelog2(21/1050*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: MECOM [Title/Abstract] AND EYA3 [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
HgeneMECOM

GO:0045892

negative regulation of transcription, DNA-templated

10856240|11568182

HgeneMECOM

GO:0045893

positive regulation of transcription, DNA-templated

11568182|19767769

HgeneMECOM

GO:0051726

regulation of cell cycle

11568182

TgeneEYA3

GO:0010212

response to ionizing radiation

19234442

TgeneEYA3

GO:0016576

histone dephosphorylation

19234442|19351884


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
ChiTaRS3.1BQ948988MECOMchr3

169200995

-EYA3chr1

28332228

+
* 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
intron-intronENST00000264674ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000264674ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000264674ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000264674ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000264674ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000264674ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000264674ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000392736ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000464456ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000472280ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000494292ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000468789ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000460814ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000433243ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000373871MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000436342MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000373864MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000540618MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000545175MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000373863MECOMchr3

169200995

-EYA3chr1

28332228

+
intron-intronENST00000485957ENST00000471498MECOMchr3

169200995

-EYA3chr1

28332228

+

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FusionProtFeatures for MECOM_EYA3


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

Q03112

EYA3

Q99504

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 (PubMed:19234442, PubMed:19351884). Itsfunction as histone phosphatase probably explains its role intranscription regulation during organogenesis. Coactivates SIX1,and seems to coactivate SIX2, SIX4 and SIX5. The repression ofprecursor cell proliferation in myoblasts by SIX1 is switched toactivation through recruitment of EYA3 to the SIX1-DACH1 complexand seems to be dependent on EYA3 phosphatase activity (Bysimilarity). May be involved in development of the eye.{ECO:0000250|UniProtKB:P97480, ECO:0000269|PubMed:19234442,ECO:0000269|PubMed:19351884}.

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 MECOM_EYA3


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 MECOM_EYA3


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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RelatedDrugs for MECOM_EYA3


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 MECOM_EYA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMECOMC0009375Colonic Neoplasms1CTD_human
HgeneMECOMC0023448Lymphoid leukemia1CTD_human
HgeneMECOMC0023470Myeloid Leukemia1CTD_human
HgeneMECOMC0027439Nasopharyngeal Neoplasms1CTD_human
HgeneMECOMC0919267ovarian neoplasm1CTD_human
HgeneMECOMC1458155Mammary Neoplasms1CTD_human
HgeneMECOMC4225221RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 21UNIPROT