| Kinase Fusion partner gene information | Kinase Fusion gene name: ALDH18A1_EPHA6 |
KinaseFusionDB ID: KFG308 | FusionGDB2.0 ID: KFG308 | | Hgene | Tgene | Gene symbol | ALDH18A1 | EPHA6 | Gene ID | 5832 | 285220 | | Gene name | aldehyde dehydrogenase 18 family member A1 | EPH receptor A6 |
| Synonyms | ADCL3|ARCL3A|GSAS|P5CS|PYCS|SPG9|SPG9A|SPG9B | EHK-2|EHK2|EK12|EPA6|HEK12|PRO57066 |
| Cytomap | 10q24.1 | 3q11.2 |
| Type of gene | protein-coding | protein-coding |
| Description | delta-1-pyrroline-5-carboxylate synthaseSpastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)aldehyde dehydrogenase family 18 member A1delta-1-pyrroline-5-carboxylate synthetasedelta1-pyrroline-5-carboxlate | ephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6 |
| Modification date | 20240305 | 20240411 |
| UniProtAcc | P54886 | Q9UF33 |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000371221, ENST00000371224,
ENST00000483788, | ENST00000389672,
ENST00000442602, ENST00000470610,
ENST00000502694, ENST00000514100,
ENST00000542517, |
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ALDH18A1 [Title/Abstract] AND EPHA6 [Title/Abstract] AND fusion [Title/Abstract] |
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ALDH18A1(97365706)-EPHA6(96668324), # samples:1
|
 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 |
Kinase Fusion gene breakpoints across ALDH18A1 (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 EPHA6 (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 | EC579596 | ALDH18A1 | chr10 | 97365706 | EPHA6 | chr3 | 96668324 |
| 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/:97365706/:96668324)
- 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 |
ALDH18A1
P54886 | EPHA6
Q9UF33 |
| FUNCTION: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269|PubMed:10037775, ECO:0000269|PubMed:11092761, ECO:0000269|PubMed:26297558, ECO:0000269|PubMed:26320891}. | FUNCTION: Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity). {ECO:0000250}. |
| 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 |
| EPHA6 | Q9UF33 | human | GLO1 | Q04760 | Y136 | GIAVPDVysACkRFE | Glyoxalase |
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 |
| EPHA6 | ID | Description | 0.00e+00 |
| EPHA6 | GO:0006749 | glutathione metabolic process | 1.11e-02 |
| EPHA6 | GO:0006081 | cellular aldehyde metabolic process | 1.11e-02 |
| EPHA6 | GO:0030316 | osteoclast differentiation | 1.12e-02 |
| EPHA6 | GO:0042180 | cellular ketone metabolic process | 1.49e-02 |
| EPHA6 | GO:0002573 | myeloid leukocyte differentiation | 1.49e-02 |
| EPHA6 | GO:0030099 | myeloid cell differentiation | 2.28e-02 |
Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Distribution of the number of studies mentioning ALDH18A1-EPHA6 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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