| Kinase Fusion partner gene information | Kinase Fusion gene name: PAFAH1B2_SIK3 |
KinaseFusionDB ID: KFG4397 | FusionGDB2.0 ID: KFG4397 | | Hgene | Tgene | Gene symbol | PAFAH1B2 | SIK3 | Gene ID | 5049 | 23387 | | Gene name | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | SIK family kinase 3 |
| Synonyms | HEL-S-303 | L19|QSK|SEMDK|SIK-3 |
| Cytomap | 11q23.3 | 11q23.3 |
| Type of gene | protein-coding | protein-coding |
| Description | platelet-activating factor acetylhydrolase IB subunit alpha2PAF acetylhydrolase 30 kDa subunitPAF-AH 30 kDa subunitPAF-AH subunit betaPAF-AH1b alpha 2 subunitPAFAH subunit betaepididymis secretory protein Li 303epididymis secretory sperm binding pr | serine/threonine-protein kinase SIK3salt-inducible kinase 3serine/threonine-protein kinase QSK |
| Modification date | 20240305 | 20240403 |
| UniProtAcc | P68402 | Q9Y2K2 |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000419197, ENST00000526888,
ENST00000527958, ENST00000529887,
ENST00000530272, | ENST00000375300,
ENST00000292055, ENST00000375288,
ENST00000434315, ENST00000542607,
ENST00000446921, ENST00000488337,
|
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PAFAH1B2 [Title/Abstract] AND SIK3 [Title/Abstract] AND fusion [Title/Abstract] |
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | |
 Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Kinase Fusion gene breakpoints across PAFAH1B2 (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 SIK3 (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. |
| 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/:/:)
- 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 |
PAFAH1B2
P68402 | SIK3
Q9Y2K2 |
| FUNCTION: Alpha2 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. The alpha2/alpha2 homodimer (PAFAH1B2/PAFAH1B2 homodimer) hydrolyzes PAF and 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE) more efficiently than 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA). In contrast, the alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B3 heterodimer) hydrolyzes AAGPA more efficiently than PAF, but has little hydrolytic activity towards AAGPE (By similarity). May play a role in male germ cell meiosis during the late pachytenestage and meiotic divisions as well as early spermiogenesis (By similarity). {ECO:0000250|UniProtKB:P68401, ECO:0000250|UniProtKB:Q61206}. | FUNCTION: Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negatively regulates cAMP signaling pathway possibly by acting on CRTC2/TORC2 and CRTC3/TORC3 (Probable). Prevents HDAC4 translocation to the nucleus (By similarity). {ECO:0000250|UniProtKB:Q6P4S6, ECO:0000269|PubMed:30232230, ECO:0000305|PubMed:29211348}. |
| 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 |
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 |
Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Distribution of the number of studies mentioning PAFAH1B2-SIK3 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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