| Kinase Fusion partner gene information | Kinase Fusion gene name: SYNE1_HUNK |
KinaseFusionDB ID: KFG6329 | FusionGDB2.0 ID: KFG6329 | | Hgene | Tgene | Gene symbol | SYNE1 | HUNK | Gene ID | 23345 | 30811 | | Gene name | spectrin repeat containing nuclear envelope protein 1 | hormonally up-regulated Neu-associated kinase |
| Synonyms | 8B|AMC3|AMCM|ARCA1|C6orf98|CPG2|EDMD4|KASH1|MYNE1|Nesp1|SCAR8|dJ45H2.2 | - |
| Cytomap | 6q25.2 | 21q22.11 |
| Type of gene | protein-coding | protein-coding |
| Description | nesprin-1CPG2 full lengthKASH domain-containing protein 1enaptinmyocyte nuclear envelope protein 1nesprin 1spectrin repeat containing, nuclear envelope 1synaptic nuclear envelope protein 1synaptic nuclei expressed gene 1 | hormonally up-regulated neu tumor-associated kinaseB19hormonally upregulated Neu-associated kinasehormonally upregulated neu tumor-associated kinaseserine/threonine protein kinase MAK-V |
| Modification date | 20240407 | 20240305 |
| UniProtAcc | Q8NF91 | P57058 |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000265368, ENST00000341594,
ENST00000347037, ENST00000354674,
ENST00000356820, ENST00000367248,
ENST00000367253, ENST00000367255,
ENST00000413186, ENST00000423061,
ENST00000448038, ENST00000466159,
ENST00000495090, ENST00000539504,
| ENST00000270112, ENST00000465574,
|
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: SYNE1 [Title/Abstract] AND HUNK [Title/Abstract] AND fusion [Title/Abstract] |
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SYNE1(152638488)-HUNK(33107008), # samples:1
|
 Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Kinase Fusion gene breakpoints across SYNE1 (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 HUNK (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 | AA648160 | SYNE1 | chr6 | 152638488 | HUNK | chr21 | 33107008 |
| 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/:152638488/:33107008)
- 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 |
SYNE1
Q8NF91 | HUNK
P57058 |
| FUNCTION: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenesis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette. {ECO:0000250|UniProtKB:Q6ZWR6, ECO:0000269|PubMed:11792814, ECO:0000269|PubMed:18396275}. | |
| 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 |
| HUNK | P57058 | human | ITM2A | O43736 | T35 | TVRTQILtGkELRVA | |
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 |
| HUNK | ID | Description | 0.00e+00 |
| HUNK | GO:0042985 | negative regulation of amyloid precursor protein biosynthetic process | 5.65e-03 |
| HUNK | GO:0010561 | negative regulation of glycoprotein biosynthetic process | 5.65e-03 |
| HUNK | GO:0042983 | amyloid precursor protein biosynthetic process | 5.65e-03 |
| HUNK | GO:0042984 | regulation of amyloid precursor protein biosynthetic process | 5.65e-03 |
| HUNK | GO:1903019 | negative regulation of glycoprotein metabolic process | 5.65e-03 |
| HUNK | GO:0002313 | mature B cell differentiation involved in immune response | 5.65e-03 |
| HUNK | GO:0002335 | mature B cell differentiation | 5.75e-03 |
| HUNK | GO:0010559 | regulation of glycoprotein biosynthetic process | 7.18e-03 |
| HUNK | GO:1903018 | regulation of glycoprotein metabolic process | 7.18e-03 |
| HUNK | GO:0002312 | B cell activation involved in immune response | 9.25e-03 |
| HUNK | GO:0042982 | amyloid precursor protein metabolic process | 9.25e-03 |
| HUNK | GO:0030183 | B cell differentiation | 1.35e-02 |
| HUNK | GO:0002285 | lymphocyte activation involved in immune response | 1.74e-02 |
| HUNK | GO:0042113 | B cell activation | 1.90e-02 |
| HUNK | GO:0009101 | glycoprotein biosynthetic process | 1.90e-02 |
| HUNK | GO:0002366 | leukocyte activation involved in immune response | 1.90e-02 |
| HUNK | GO:0002263 | cell activation involved in immune response | 1.90e-02 |
| HUNK | GO:0009100 | glycoprotein metabolic process | 2.18e-02 |
| HUNK | GO:0030098 | lymphocyte differentiation | 2.39e-02 |
| HUNK | GO:1903131 | mononuclear cell differentiation | 2.55e-02 |
Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Distribution of the number of studies mentioning SYNE1-HUNK 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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