| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:YWHAE_ABR |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: YWHAE_ABR | KinaseFusionDB ID: KFG7212 | FusionGDB2.0 ID: KFG7212 | Hgene | Tgene | Gene symbol | YWHAE | ABR | Gene ID | 7531 | 29 | |
| Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | ABR activator of RhoGEF and GTPase | ||||||||||
| Synonyms | 14-3-3E|HEL2|KCIP-1|MDCR|MDS | MDB | ||||||||||
| Cytomap | 17p13.3 | 17p13.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | 14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine | active breakpoint cluster region-related proteinABR, RhoGEF and GTPase activating proteinactive BCR-related | ||||||||||
| Modification date | 20240413 | 20240302 | ||||||||||
| UniProtAcc | P62258 | Q9P1F3 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000264335, ENST00000573026, ENST00000575977, ENST00000498643, ENST00000571732, | ENST00000544583, ENST00000574437, ENST00000291107, ENST00000536794, ENST00000543210, ENST00000572441, ENST00000573895, ENST00000302538, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: YWHAE [Title/Abstract] AND ABR [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ABR(1132087)-YWHAE(1268352), # samples:9 YWHAE(1303340)-ABR(1028702), # samples:2 | |||||||||||
| 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 | YWHAE | GO:0000165 | MAPK cascade | 12917326 |
| Hgene | YWHAE | GO:0002753 | cytoplasmic pattern recognition receptor signaling pathway | 22607805 |
| Hgene | YWHAE | GO:0034122 | negative regulation of toll-like receptor signaling pathway | 35343654 |
| Hgene | YWHAE | GO:0034605 | cellular response to heat | 12917326 |
| Hgene | YWHAE | GO:0046827 | positive regulation of protein export from nucleus | 12917326 |
| Hgene | YWHAE | GO:0051480 | regulation of cytosolic calcium ion concentration | 18029012 |
| Hgene | YWHAE | GO:0060306 | regulation of membrane repolarization | 11953308 |
| Hgene | YWHAE | GO:0070972 | protein localization to endoplasmic reticulum | 35343654 |
| Hgene | YWHAE | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 11953308 |
| Hgene | YWHAE | GO:1901020 | negative regulation of calcium ion transmembrane transporter activity | 18029012 |
| Hgene | YWHAE | GO:1902309 | negative regulation of peptidyl-serine dephosphorylation | 11953308 |
| Hgene | YWHAE | GO:1905913 | negative regulation of calcium ion export across plasma membrane | 18029012 |
| Tgene | ABR | GO:0090630 | activation of GTPase activity | 7479768 |
| Kinase Fusion gene breakpoints across YWHAE (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 ABR (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
Kinase Fusion Gene Sample Information |
| 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 |
| ChimerDB4 | TCGA-G2-A2EJ-01A | YWHAE | chr17 | 1303341 | ABR | chr17 | 1028702 |
| ChimerDB4 | TCGA-G2-A2EJ | YWHAE | chr17 | 1303340 | ABR | chr17 | 1028702 |
Top |
Kinase Fusion ORF Analysis |
| 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) |
Top |
Kinase Fusion Amino Acid Sequences |
| 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 |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
Top |
Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1132087/:1268352) - 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 |
| YWHAE | ABR |
| FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326). Plays a positive role in the antiviral signaling pathway upstream of TBK1 via interaction with RIGI (PubMed:37555661). Mechanistically, directs RIGI redistribution from the cytosol to mitochondrial associated membranes where it mediates MAVS-dependent innate immune signaling during viral infection (PubMed:22607805). Plays a role in proliferation inhibition and cell cycle arrest by exporting HNRNPC from the nucleus to the cytoplasm to be degraded by ubiquitination (PubMed:37599448). {ECO:0000250|UniProtKB:P62261, ECO:0000269|PubMed:12917326, ECO:0000269|PubMed:22607805, ECO:0000269|PubMed:37555661, ECO:0000269|PubMed:37599448}. |
| 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. |
| - 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 |
Top |
Kinase-Substrate Information of YWHAE_ABR |
| 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 |
| 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 |
Top |
Related Drugs to YWHAE_ABR |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning YWHAE-ABR 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 |
Top |
Related Diseases to YWHAE_ABR |
| 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) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | YWHAE | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | YWHAE | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | YWHAE | C0206630 | Endometrial Stromal Sarcoma | 2 | ORPHANET |
Top |
Clinical Trials of the Found Drugs/Small Molecules |
| 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 |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |