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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:EYA1-GPHN (FusionGDB2 ID:HG2138TG10243) |
Fusion Gene Summary for EYA1-GPHN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EYA1-GPHN | Fusion gene ID: hg2138tg10243 | Hgene | Tgene | Gene symbol | EYA1 | GPHN | Gene ID | 2138 | 10243 |
| Gene name | EYA transcriptional coactivator and phosphatase 1 | gephyrin | |
| Synonyms | BOP|BOR|BOS1|OFC1 | GEPH|GPH|GPHRYN|HKPX1|MOCODC | |
| Cytomap | ('EYA1')('GPHN') 8q13.3 | 14q23.3-q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eyes absent homolog 1 | gephyrin | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q99502 | Q9NQX3 | |
| Ensembl transtripts involved in fusion gene | ENST00000303824, ENST00000340726, ENST00000388740, ENST00000388741, ENST00000388742, ENST00000388743, ENST00000419131, | ||
| Fusion gene scores | * DoF score | 6 X 6 X 1=36 | 42 X 51 X 15=32130 |
| # samples | 7 | 62 | |
| ** MAII score | log2(7/36*10)=0.959358015502654 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(62/32130*10)=-5.69550895508454 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EYA1 [Title/Abstract] AND GPHN [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | EYA1(72154089)-GPHN(67802524), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | GPHN | GO:0032324 | molybdopterin cofactor biosynthetic process | 26613940 |
| Tgene | GPHN | GO:0097112 | gamma-aminobutyric acid receptor clustering | 26613940 |
| Fusion gene information * 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 |
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Fusion Gene ORF analysis for EYA1-GPHN |
| 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 |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EYA1-GPHN |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for EYA1-GPHN |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:72154089/:67802524) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EYA1 | GPHN |
| FUNCTION: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). 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:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity). {ECO:0000250|UniProtKB:P97767, ECO:0000269|PubMed:19234442}. | FUNCTION: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}.; FUNCTION: Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. {ECO:0000269|PubMed:26613940}. |
| 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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Fusion Gene Sequence for EYA1-GPHN |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for EYA1-GPHN |
| 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 |
| - 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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Related Drugs for EYA1-GPHN |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | GPHN | Q9NQX3 | DB03766 | Propanoic acid | Small molecule | Approved|Vet_approved | |
| Tgene | GPHN | Q9NQX3 | DB03766 | Propanoic acid | Small molecule | Approved|Vet_approved | |
| Tgene | GPHN | Q9NQX3 | DB03766 | Propanoic acid | Small molecule | Approved|Vet_approved |
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Related Diseases for EYA1-GPHN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EYA1 | C4551702 | Branchiootorenal Syndrome 1 | 9 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | EYA1 | C0265234 | Branchio-Oto-Renal Syndrome | 7 | CLINGEN;CTD_human |
| Hgene | EYA1 | C1865143 | BRANCHIOOTIC SYNDROME 1 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | EYA1 | C1833691 | Otofaciocervical Syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | EYA1 | C3551443 | ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT | 2 | ORPHANET |
| Hgene | EYA1 | C3714941 | OTOFACIOCERVICAL SYNDROME 1 | 2 | GENOMICS_ENGLAND |
| Hgene | EYA1 | C4273131 | Branchiootic syndrome | 2 | CTD_human;ORPHANET |
| Hgene | EYA1 | C0000768 | Congenital Abnormality | 1 | CTD_human |
| Hgene | EYA1 | C0018777 | Conductive hearing loss | 1 | CTD_human |
| Hgene | EYA1 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | EYA1 | C0152423 | Congenital small ears | 1 | GENOMICS_ENGLAND |
| Hgene | EYA1 | C0376524 | Branchio-Oculo-Facial Syndrome | 1 | CTD_human |
| Hgene | EYA1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | EYA1 | C0431406 | Asymmetric crying face association | 1 | CTD_human |
| Hgene | EYA1 | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |
| Hgene | EYA1 | C1970479 | Branchiootorenal Syndrome 2 | 1 | CTD_human |
| Tgene | C1854990 | Molybdenum Cofactor Deficiency, Complementation Group C | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C0001956 | Alcohol Use Disorder | 1 | CTD_human | |
| Tgene | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human | |
| Tgene | C0009171 | Cocaine Abuse | 1 | CTD_human | |
| Tgene | C0085762 | Alcohol abuse | 1 | CTD_human | |
| Tgene | C0236736 | Cocaine-Related Disorders | 1 | CTD_human | |
| Tgene | C0543888 | Epileptic encephalopathy | 1 | GENOMICS_ENGLAND | |
| Tgene | C0600427 | Cocaine Dependence | 1 | CTD_human |
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