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Kinase Fusion Gene:ALPK1_LARP7 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ALPK1_LARP7 | KinaseFusionDB ID: KFG331 | FusionGDB2.0 ID: KFG331 | Hgene | Tgene | Gene symbol | ALPK1 | LARP7 | Gene ID | 80216 | 51574 | |
| Gene name | alpha kinase 1 | La ribonucleoprotein 7, transcriptional regulator | ||||||||||
| Synonyms | 8430410J10Rik|LAK|ROSAH | ALAZS|HDCMA18P|PIP7S|hLARP7 | ||||||||||
| Cytomap | 4q25 | 4q25 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | alpha-protein kinase 1chromosome 4 kinaselymphocyte alpha-kinaselymphocyte alpha-protein kinase | la-related protein 7La ribonucleoprotein domain family member 7P-TEFb-interaction protein for 7SK stability | ||||||||||
| Modification date | 20240323 | 20240411 | ||||||||||
| UniProtAcc | Q96QP1 | Q4G0J3 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000177648, ENST00000458497, ENST00000504176, ENST00000505912, | ENST00000324052, ENST00000344442, ENST00000503898, ENST00000509061, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ALPK1 [Title/Abstract] AND LARP7 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ALPK1(113245232)-LARP7(113560614), # samples:2 LARP7(113558759)-ALPK1(113332983), # 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 | ALPK1 | GO:0002753 | cytoplasmic pattern recognition receptor signaling pathway | 28222186|28877472|30111836 |
| Hgene | ALPK1 | GO:0043123 | positive regulation of canonical NF-kappaB signal transduction | 28222186|28877472|30111836 |
| Hgene | ALPK1 | GO:0045087 | innate immune response | 28222186|28877472|30111836 |
| Tgene | LARP7 | GO:1904871 | positive regulation of protein localization to Cajal body | 28254838 |
| Tgene | LARP7 | GO:1905382 | positive regulation of snRNA transcription by RNA polymerase II | 28254838 |
| Kinase Fusion gene breakpoints across ALPK1 (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 LARP7 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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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 |
| ChiTaRS5.0 | AA507724 | ALPK1 | chr4 | 113245232 | LARP7 | chr4 | 113560614 |
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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) |
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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 |
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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/:113245232/:113560614) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ALPK1 | LARP7 |
| FUNCTION: Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28877472, PubMed:28222186, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signaling (PubMed:30111836). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161). May play a role in ciliogenesis (PubMed:30967659). {ECO:0000269|PubMed:15883161, ECO:0000269|PubMed:27169898, ECO:0000269|PubMed:28222186, ECO:0000269|PubMed:28877472, ECO:0000269|PubMed:30111836, ECO:0000269|PubMed:30967659}. | FUNCTION: RNA-binding protein that specifically binds distinct small nuclear RNA (snRNAs) and regulates their processing and function (PubMed:18249148, PubMed:32017898). Specifically binds the 7SK snRNA (7SK RNA) and acts as a core component of the 7SK ribonucleoprotein (RNP) complex, thereby acting as a negative regulator of transcription elongation by RNA polymerase II (PubMed:18249148, PubMed:18483487). The 7SK RNP complex sequesters the positive transcription elongation factor b (P-TEFb) in a large inactive 7SK RNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:18249148, PubMed:18483487). The 7SK RNP complex also promotes snRNA gene transcription by RNA polymerase II via interaction with the little elongation complex (LEC) (PubMed:28254838). LARP7 specifically binds to the highly conserved 3'-terminal U-rich stretch of 7SK RNA; on stimulation, remains associated with 7SK RNA, whereas P-TEFb is released from the complex (PubMed:18483487, PubMed:18281698). LARP7 also acts as a regulator of mRNA splicing fidelity by promoting U6 snRNA processing (PubMed:32017898). Specifically binds U6 snRNAs and associates with a subset of box C/D RNP complexes: promotes U6 snRNA 2'-O-methylation by facilitating U6 snRNA loading into box C/D RNP complexes (PubMed:32017898). U6 snRNA 2'-O-methylation is required for mRNA splicing fidelity (PubMed:32017898). Binds U6 snRNAs with a 5'-CAGGG-3' sequence motif (PubMed:32017898). U6 snRNA processing is required for spermatogenesis (By similarity). {ECO:0000250|UniProtKB:Q05CL8, ECO:0000269|PubMed:18249148, ECO:0000269|PubMed:18281698, ECO:0000269|PubMed:18483487, ECO:0000269|PubMed:28254838, ECO:0000269|PubMed:32017898}. |
| 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 |
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Kinase-Substrate Information of ALPK1_LARP7 |
| 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 |
| ALPK1 | Q96QP1 | human | TIFA | Q96CG3 | T9 | tSFEDADtEEtVTCL |
| 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 |
| ALPK1 | ID | Description | 0.00e+00 |
| ALPK1 | GO:0002753 | cytosolic pattern recognition receptor signaling pathway | 2.61e-02 |
| ALPK1 | GO:0051260 | protein homooligomerization | 2.61e-02 |
| ALPK1 | GO:0043123 | positive regulation of canonical NF-kappaB signal transduction | 2.61e-02 |
| ALPK1 | GO:0002221 | pattern recognition receptor signaling pathway | 2.61e-02 |
| ALPK1 | GO:0002758 | innate immune response-activating signaling pathway | 2.61e-02 |
| ALPK1 | GO:0051259 | protein complex oligomerization | 2.61e-02 |
| ALPK1 | GO:0043122 | regulation of canonical NF-kappaB signal transduction | 2.61e-02 |
| ALPK1 | GO:0002218 | activation of innate immune response | 2.61e-02 |
| ALPK1 | GO:0007249 | canonical NF-kappaB signal transduction | 2.61e-02 |
| ALPK1 | GO:0045089 | positive regulation of innate immune response | 2.61e-02 |
| ALPK1 | GO:0030522 | intracellular receptor signaling pathway | 2.61e-02 |
| ALPK1 | GO:0002833 | positive regulation of response to biotic stimulus | 2.61e-02 |
| ALPK1 | GO:0045088 | regulation of innate immune response | 2.65e-02 |
| ALPK1 | GO:0002757 | immune response-activating signaling pathway | 2.65e-02 |
| ALPK1 | GO:0031349 | positive regulation of defense response | 2.65e-02 |
| ALPK1 | GO:0002764 | immune response-regulating signaling pathway | 2.65e-02 |
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Related Drugs to ALPK1_LARP7 |
| 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 ALPK1-LARP7 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 |
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Related Diseases to ALPK1_LARP7 |
| 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 |
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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 |
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