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Fusion Protein:EYA2-MYLK2 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: EYA2-MYLK2 | FusionPDB ID: 28049 | FusionGDB2.0 ID: 28049 | Hgene | Tgene | Gene symbol | EYA2 | MYLK2 | Gene ID | 2139 | 85366 |
Gene name | EYA transcriptional coactivator and phosphatase 2 | myosin light chain kinase 2 | |
Synonyms | EAB1 | KMLC|MLCK|MLCK2|skMLCK | |
Cytomap | 20q13.12 | 20q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | eyes absent homolog 2 | myosin light chain kinase 2, skeletal/cardiac musclemyosin light chain kinase 2, skeletal muscle | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | O00167 | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000317304, ENST00000327619, ENST00000357410, ENST00000497428, | ENST00000468730, ENST00000375985, ENST00000375994, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 5 X 6=210 | 1 X 1 X 1=1 |
# samples | 10 | 1 | |
** MAII score | log2(10/210*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: EYA2 [Title/Abstract] AND MYLK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | EYA2(45725807)-MYLK2(30418622), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | EYA2-MYLK2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EYA2-MYLK2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EYA2-MYLK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EYA2-MYLK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | EYA2 | GO:0016576 | histone dephosphorylation | 19351884 |
Tgene | MYLK2 | GO:0006941 | striated muscle contraction | 16448786 |
Tgene | MYLK2 | GO:0010628 | positive regulation of gene expression | 21556048 |
Tgene | MYLK2 | GO:0018107 | peptidyl-threonine phosphorylation | 21556048 |
Tgene | MYLK2 | GO:0032971 | regulation of muscle filament sliding | 16448786 |
Tgene | MYLK2 | GO:0035914 | skeletal muscle cell differentiation | 21556048 |
Tgene | MYLK2 | GO:0046777 | protein autophosphorylation | 21556048 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | UCS | TCGA-ND-A4WF-01A | EYA2 | chr20 | 45725807 | - | MYLK2 | chr20 | 30418622 | + |
ChimerDB4 | UCS | TCGA-ND-A4WF-01A | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + |
ChimerDB4 | UCS | TCGA-ND-A4WF | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000357410 | EYA2 | chr20 | 45725807 | + | ENST00000375994 | MYLK2 | chr20 | 30418622 | + | 2721 | 1262 | 68 | 1828 | 586 |
ENST00000357410 | EYA2 | chr20 | 45725807 | + | ENST00000375985 | MYLK2 | chr20 | 30418622 | + | 2721 | 1262 | 68 | 1828 | 586 |
ENST00000327619 | EYA2 | chr20 | 45725807 | + | ENST00000375994 | MYLK2 | chr20 | 30418622 | + | 2721 | 1262 | 68 | 1828 | 586 |
ENST00000327619 | EYA2 | chr20 | 45725807 | + | ENST00000375985 | MYLK2 | chr20 | 30418622 | + | 2721 | 1262 | 68 | 1828 | 586 |
ENST00000317304 | EYA2 | chr20 | 45725807 | + | ENST00000375994 | MYLK2 | chr20 | 30418622 | + | 2357 | 898 | 10 | 1464 | 484 |
ENST00000317304 | EYA2 | chr20 | 45725807 | + | ENST00000375985 | MYLK2 | chr20 | 30418622 | + | 2357 | 898 | 10 | 1464 | 484 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000357410 | ENST00000375994 | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + | 0.012720289 | 0.9872798 |
ENST00000357410 | ENST00000375985 | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + | 0.012720289 | 0.9872798 |
ENST00000327619 | ENST00000375994 | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + | 0.012720289 | 0.9872798 |
ENST00000327619 | ENST00000375985 | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + | 0.012720289 | 0.9872798 |
ENST00000317304 | ENST00000375994 | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + | 0.010974038 | 0.989026 |
ENST00000317304 | ENST00000375985 | EYA2 | chr20 | 45725807 | + | MYLK2 | chr20 | 30418622 | + | 0.010974038 | 0.989026 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >28049_28049_1_EYA2-MYLK2_EYA2_chr20_45725807_ENST00000317304_MYLK2_chr20_30418622_ENST00000375985_length(amino acids)=484AA_BP=296 MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQATPYTAYPPP AQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGS SYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERV FVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQISDKTDMWSMGVIT YMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRCNRRLKSQILLKK -------------------------------------------------------------- >28049_28049_2_EYA2-MYLK2_EYA2_chr20_45725807_ENST00000317304_MYLK2_chr20_30418622_ENST00000375994_length(amino acids)=484AA_BP=296 MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQATPYTAYPPP AQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGS SYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERV FVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQISDKTDMWSMGVIT YMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRCNRRLKSQILLKK -------------------------------------------------------------- >28049_28049_3_EYA2-MYLK2_EYA2_chr20_45725807_ENST00000327619_MYLK2_chr20_30418622_ENST00000375985_length(amino acids)=586AA_BP=398 MRPAAGCVRPRSPASRLGAPTRPRSGAGTRAGAEGGPGPGRRRGRSSRRRQQPRQPRRRRQRQRQRQQRARRSQPGLVGPAPARPPARTA SGRPLHCARYKEMVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGI QQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPG FPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSD PSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQIS DKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRC -------------------------------------------------------------- >28049_28049_4_EYA2-MYLK2_EYA2_chr20_45725807_ENST00000327619_MYLK2_chr20_30418622_ENST00000375994_length(amino acids)=586AA_BP=398 MRPAAGCVRPRSPASRLGAPTRPRSGAGTRAGAEGGPGPGRRRGRSSRRRQQPRQPRRRRQRQRQRQQRARRSQPGLVGPAPARPPARTA SGRPLHCARYKEMVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGI QQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPG FPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSD PSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQIS DKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRC -------------------------------------------------------------- >28049_28049_5_EYA2-MYLK2_EYA2_chr20_45725807_ENST00000357410_MYLK2_chr20_30418622_ENST00000375985_length(amino acids)=586AA_BP=398 MRPAAGCVRPRSPASRLGAPTRPRSGAGTRAGAEGGPGPGRRRGRSSRRRQQPRQPRRRRQRQRQRQQRARRSQPGLVGPAPARPPARTA SGRPLHCARYKEMVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGI QQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPG FPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSD PSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQIS DKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRC -------------------------------------------------------------- >28049_28049_6_EYA2-MYLK2_EYA2_chr20_45725807_ENST00000357410_MYLK2_chr20_30418622_ENST00000375994_length(amino acids)=586AA_BP=398 MRPAAGCVRPRSPASRLGAPTRPRSGAGTRAGAEGGPGPGRRRGRSSRRRQQPRQPRRRRQRQRQRQQRARRSQPGLVGPAPARPPARTA SGRPLHCARYKEMVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGI QQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPG FPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSD PSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQIS DKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRC -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:45725807/chr20:30418622) - 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. |
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Hgene | Tgene |
EYA2 | . |
FUNCTION: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905). {ECO:0000269|PubMed:12500905, ECO:0000269|PubMed:19351884, ECO:0000269|PubMed:21706047, ECO:0000269|PubMed:23435380}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
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- 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 |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375985 | 7 | 13 | 574_586 | 408.0 | 597.0 | Region | Calmodulin-binding | |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375994 | 6 | 12 | 574_586 | 408.0 | 597.0 | Region | Calmodulin-binding |
- 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 |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375985 | 7 | 13 | 261_268 | 408.0 | 597.0 | Compositional bias | Note=Poly-Pro | |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375994 | 6 | 12 | 261_268 | 408.0 | 597.0 | Compositional bias | Note=Poly-Pro | |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375985 | 7 | 13 | 285_540 | 408.0 | 597.0 | Domain | Protein kinase | |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375994 | 6 | 12 | 285_540 | 408.0 | 597.0 | Domain | Protein kinase | |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375985 | 7 | 13 | 291_299 | 408.0 | 597.0 | Nucleotide binding | ATP | |
Tgene | MYLK2 | chr20:45725807 | chr20:30418622 | ENST00000375994 | 6 | 12 | 291_299 | 408.0 | 597.0 | Nucleotide binding | ATP |
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Fusion Protein Structures |
![]() * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file >>>1243_EYA2_45725807_MYLK2_30418622_1243_EYA2_45725807_MYLK2_30418622_ranked_0.pdb | EYA2 | 45725807 | 45725807 | ENST00000375985 | MYLK2 | chr20 | 30418622 | + | MRPAAGCVRPRSPASRLGAPTRPRSGAGTRAGAEGGPGPGRRRGRSSRRRQQPRQPRRRRQRQRQRQQRARRSQPGLVGPAPARPPARTA SGRPLHCARYKEMVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGI QQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPG FPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSD PSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKPENILCVNTTGHLVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQIS DKTDMWSMGVITYMLLSGLSPFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWLNNLAEKAKRC | 586 |
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
EYA2_pLDDT.png![]() |
MYLK2_pLDDT.png![]() |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
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Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
EYA2 | |
MYLK2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to EYA2-MYLK2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to EYA2-MYLK2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |