| Kinase Fusion partner gene information | Kinase Fusion gene name: EPHA1_WBSCR22 |
KinaseFusionDB ID: KFG1984 | FusionGDB2.0 ID: KFG1984 | | Hgene | Tgene | Gene symbol | EPHA1 | WBSCR22 | Gene ID | 2041 | 114049 | | Gene name | EPH receptor A1 | BUD23 rRNA methyltransferase and ribosome maturation factor |
| Synonyms | EPH|EPHT|EPHT1 | HASJ4442|HUSSY-3|MERM1|PP3381|WBMT|WBSCR22 |
| Cytomap | 7q34-q35 | 7q11.23 |
| Type of gene | protein-coding | protein-coding |
| Description | ephrin type-A receptor 1eph tyrosine kinase 1erythropoietin-producing hepatoma amplified sequenceerythropoietin-producing hepatoma receptorhEpha1oncogene EPHtyrosine-protein kinase receptor EPH | probable 18S rRNA (guanine-N(7))-methyltransferaseWilliams-Beuren candidate region putative methyltransferaseWilliams-Beuren syndrome chromosomal region 22 proteinWilliams-Beuren syndrome chromosome region 22bud site selection protein 23 homologmetas |
| Modification date | 20240411 | 20240403 |
| UniProtAcc | Q5JZY3 | O43709 |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000275815, ENST00000458129,
| ENST00000265758, ENST00000423166,
ENST00000423497, ENST00000464615,
|
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: EPHA1 [Title/Abstract] AND WBSCR22 [Title/Abstract] AND fusion [Title/Abstract] |
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | EPHA1(143087917)-WBSCR22(73101361), # samples:1
|
 Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Kinase Fusion gene breakpoints across EPHA1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Kinase Fusion gene breakpoints across WBSCR22 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene information. |
Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE)
* 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChiTaRS5.0 | CK299603 | EPHA1 | chr7 | 143087917 | WBSCR22 | chr7 | 73101361 |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length
(transcript) | Seq length
(amino acids) |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq
|
Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:143087917/:73101361)
- 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. |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
EPHA1
Q5JZY3 | WBSCR22
O43709 |
| FUNCTION: Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5. {ECO:0000269|PubMed:15777695}. | FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492). {ECO:0000250, ECO:0000269|PubMed:24086612, ECO:0000269|PubMed:24488492, ECO:0000269|PubMed:25851604}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
Phosphorylation target of the kinase
(phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| EPHA1 | P21709 | human | GJB1 | P08034 | Y243 | GHRLsPEyKQNEINk | |
Biological Network Integration of This Kinase and Substrates
(GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| EPHA1 | ID | Description | 0.00e+00 |
| EPHA1 | GO:0016264 | gap junction assembly | 5.83e-03 |
| EPHA1 | GO:0015868 | purine ribonucleotide transport | 5.83e-03 |
| EPHA1 | GO:0015865 | purine nucleotide transport | 5.83e-03 |
| EPHA1 | GO:0006862 | nucleotide transport | 5.83e-03 |
| EPHA1 | GO:1901264 | carbohydrate derivative transport | 9.01e-03 |
| EPHA1 | GO:0015748 | organophosphate ester transport | 1.19e-02 |
| EPHA1 | GO:0007043 | cell-cell junction assembly | 1.19e-02 |
| EPHA1 | GO:0045216 | cell-cell junction organization | 1.32e-02 |
| EPHA1 | GO:0015931 | nucleobase-containing compound transport | 1.32e-02 |
| EPHA1 | GO:0034329 | cell junction assembly | 2.36e-02 |
Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Distribution of the number of studies mentioning EPHA1-WBSCR22 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
Related diseases from the literature mentioned this fusion gene and drug.
(PubMed, 04-01-2024) |
Diseases associated with fusion partners.
(DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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