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Fusion gene ID: 12354 |
FusionGeneSummary for EYA4_MAP3K5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EYA4_MAP3K5 | Fusion gene ID: 12354 | Hgene | Tgene | Gene symbol | EYA4 | MAP3K5 | Gene ID | 2070 | 4217 |
| Gene name | EYA transcriptional coactivator and phosphatase 4 | mitogen-activated protein kinase kinase kinase 5 | |
| Synonyms | CMD1J|DFNA10 | ASK1|MAPKKK5|MEKK5 | |
| Cytomap | 6q23.2 | 6q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eyes absent homolog 4dJ78N10.1 (eyes absent)eyes absent-like protein 4 | mitogen-activated protein kinase kinase kinase 5ASK-1MAP/ERK kinase kinase 5MAPK/ERK kinase kinase 5MEK kinase 5MEKK 5apoptosis signal-regulating kinase 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O95677 | Q99683 | |
| Ensembl transtripts involved in fusion gene | ENST00000452339, ENST00000430974, ENST00000367895, ENST00000355167, ENST00000355286, ENST00000531901, ENST00000525849, ENST00000431403, ENST00000441015, | ENST00000359015, ENST00000355845, ENST00000463140, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 8 X 9 X 7=504 |
| # samples | 3 | 9 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EYA4 [Title/Abstract] AND MAP3K5 [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 |
| Tgene | MAP3K5 | GO:0000165 | MAPK cascade | 17210579|21771788 |
| Tgene | MAP3K5 | GO:0000186 | activation of MAPKK activity | 11959862 |
| Tgene | MAP3K5 | GO:0006468 | protein phosphorylation | 11096076|15983381 |
| Tgene | MAP3K5 | GO:0007254 | JNK cascade | 21771788 |
| Tgene | MAP3K5 | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | 21771788 |
| Tgene | MAP3K5 | GO:0034198 | cellular response to amino acid starvation | 11096076 |
| Tgene | MAP3K5 | GO:0043065 | positive regulation of apoptotic process | 21771788 |
| Tgene | MAP3K5 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 20674765 |
| Tgene | MAP3K5 | GO:0045893 | positive regulation of transcription, DNA-templated | 11096076 |
| Tgene | MAP3K5 | GO:0051403 | stress-activated MAPK cascade | 11096076 |
| Tgene | MAP3K5 | GO:0070301 | cellular response to hydrogen peroxide | 20674765 |
| 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 |
| TCGA | RV | SARC | TCGA-3B-A9HL-01A | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| * 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 |
| 5UTR-3CDS | ENST00000452339 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000452339 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000452339 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-3CDS | ENST00000430974 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000430974 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000430974 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-3CDS | ENST00000367895 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000367895 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000367895 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-3CDS | ENST00000355167 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000355167 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000355167 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-3CDS | ENST00000355286 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000355286 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000355286 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-3CDS | ENST00000531901 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000531901 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000531901 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-3CDS | ENST00000525849 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000525849 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 5UTR-intron | ENST00000525849 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| intron-3CDS | ENST00000431403 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| intron-intron | ENST00000431403 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| intron-intron | ENST00000431403 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 3UTR-3CDS | ENST00000441015 | ENST00000359015 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 3UTR-intron | ENST00000441015 | ENST00000355845 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
| 3UTR-intron | ENST00000441015 | ENST00000463140 | EYA4 | chr6 | 133562887 | + | MAP3K5 | chr6 | 137026271 | - |
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FusionProtFeatures for EYA4_MAP3K5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EYA4 | MAP3K5 |
| 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}. | Serine/threonine kinase which acts as an essentialcomponent of the MAP kinase signal transduction pathway. Plays animportant role in the cascades of cellular responses evoked bychanges in the environment. Mediates signaling for determinationof cell fate such as differentiation and survival. Plays a crucialrole in the apoptosis signal transduction pathway throughmitochondria-dependent caspase activation. MAP3K5/ASK1 is requiredfor the innate immune response, which is essential for hostdefense against a wide range of pathogens. Mediates signaltransduction of various stressors like oxidative stress as well asby receptor-mediated inflammatory signals, such as the tumornecrosis factor (TNF) or lipopolysaccharide (LPS). Once activated,acts as an upstream activator of the MKK/JNK signal transductioncascade and the p38 MAPK signal transduction cascade through thephosphorylation and activation of several MAP kinase kinases likeMAP2K4/SEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. TheseMAP2Ks in turn activate p38 MAPKs and c-jun N-terminal kinases(JNKs). Both p38 MAPK and JNKs control the transcription factorsactivator protein-1 (AP-1). {ECO:0000269|PubMed:10411906,ECO:0000269|PubMed:10688666, ECO:0000269|PubMed:10849426,ECO:0000269|PubMed:11029458, ECO:0000269|PubMed:11154276,ECO:0000269|PubMed:11689443, ECO:0000269|PubMed:11920685,ECO:0000269|PubMed:12697749, ECO:0000269|PubMed:14688258,ECO:0000269|PubMed:14749717, ECO:0000269|PubMed:15023544,ECO:0000269|PubMed:16129676, ECO:0000269|PubMed:17220297,ECO:0000269|PubMed:23102700, ECO:0000269|PubMed:8940179,ECO:0000269|PubMed:8974401, ECO:0000269|PubMed:9564042,ECO:0000269|PubMed:9774977}. |
| 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 . * 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 EYA4_MAP3K5 |
| 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_MAP3K5 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| EYA4 | SIX1, 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, URGCP | MAP3K5 | GADD45B, KMT2A, PDCD6, TRAF1, TRAF2, TRAF3, TRAF5, TRAF6, QARS, CDC25A, MAP3K5, DUSP19, MAP2K7, CDKN1A, RB1CC1, MAP2K6, YWHAZ, HSPA1A, TXN, MAP3K6, ERN1, RAF1, EIF2AK2, ARRB2, MAPK8IP3, PPP5C, GLRX, GSTM1, MAP3K7, DAXX, GNA12, GNA13, STUB1, ALK, SOCS1, SOCS3, PRKAA2, PRKAB2, CREBBP, DMD, EP300, USP9X, SMN1, NEDD4, ARRB1, TNFAIP3, NEDD4L, HSPA4, PSMC2, PSMC1, PSMC4, PSMC3, PSMC5, MAP2K4, FAS, YWHAQ, DAB2IP, JAK2, PTPN11, PARK7, MBP, DYRK1A, HSP90AA1, MCRS1, AKT2, MAP2K3, GEMIN5, AKT1, PIK3R1, TXN2, ATAD3A, NACC1, SIAH1, GAPDH, TNFSF13B, APP, APOBEC3G, YWHAG, CIB1 |
| - 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 EYA4_MAP3K5 |
| 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 EYA4_MAP3K5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EYA4 | C1832476 | Deafness, Autosomal Dominant 10 | 2 | CTD_human;UNIPROT |
| Hgene | EYA4 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | MAP3K5 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| Tgene | MAP3K5 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | MAP3K5 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | MAP3K5 | C0030567 | Parkinson Disease | 1 | CTD_human |
| Tgene | MAP3K5 | C0878544 | Cardiomyopathies | 1 | CTD_human |
| Tgene | MAP3K5 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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