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Kinase Fusion Gene:HPCA_PAK6 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: HPCA_PAK6 | KinaseFusionDB ID: KFG2750 | FusionGDB2.0 ID: KFG2750 | Hgene | Tgene | Gene symbol | HPCA | PAK6 | Gene ID | 3208 | 106821730 | |
| Gene name | hippocalcin | |||||||||||
| Synonyms | BDR2|DYT2 | |||||||||||
| Cytomap | 1p35.1 | |||||||||||
| Type of gene | protein-coding | |||||||||||
| Description | neuron-specific calcium-binding protein hippocalcincalcium-binding protein BDR-2dystonia 2, torsion (autosomal recessive) | |||||||||||
| Modification date | 20240403 | |||||||||||
| UniProtAcc | P84074 | Q9NQU5 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000480118, ENST00000373467, | ENST00000441369, ENST00000453867, ENST00000455577, ENST00000560346, ENST00000260404, ENST00000542403, ENST00000559901, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: HPCA [Title/Abstract] AND PAK6 [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 |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Kinase Fusion gene breakpoints across HPCA (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 PAK6 (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 |
| CCLE | SW48 | HPCA | chr1 | 33363912 | PAK6 | chr15 | 40564863 |
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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/:/:) - 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 |
| HPCA | PAK6 |
| FUNCTION: Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity). {ECO:0000250|UniProtKB:P84076, ECO:0000269|PubMed:28398555}. | FUNCTION: Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD. {ECO:0000269|PubMed:14573606, ECO:0000269|PubMed:20054820}. |
| 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 HPCA_PAK6 |
| 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 |
| PAK6 | Q9NQU5 | human | PACSIN1 | Q9BY11 | S346 | SQAGDRGsVssYDRG | |
| PAK6 | Q9NQU5 | human | MDM2 | Q00987 | S186 | RQRkRHksDsIsLsF | |
| PAK6 | Q9NQU5 | human | ITGB1BP1 | O14713 | S10 | RKGKKRHssSsSQSS | ICAP-1_inte_bdg |
| PAK6 | Q9NQU5 | human | MDM2 | Q00987 | T158 | HLVSRPstSsRRRAI | |
| PAK6 | Q9NQU5 | human | CTBP2 | P56545 | S164 | REGTRVQsVEQIREV | 2-Hacid_dh_C; 2-Hacid_dh |
| PAK6 | Q9NQU5 | human | AR | P10275 | S579 | YGALTCGsCKVFFKR | zf-C4 |
| PAK6 | Q9NQU5 | human | CTBP1 | Q13363 | S100 | RIIVRIGsGFDNIDI | 2-Hacid_dh |
| PAK6 | Q9NQU5 | human | LIMK1 | P53667 | T508 | PDRKKRYtVVGNPYW | PK_Tyr_Ser-Thr |
| PAK6 | Q9NQU5 | human | CTBP1 | Q13363 | S158 | REGTRVQsVEQIREV | 2-Hacid_dh_C; 2-Hacid_dh |
| 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 |
| PAK6 | ID | Description | 0.00e+00 |
| PAK6 | GO:0050872 | white fat cell differentiation | 5.26e-03 |
| PAK6 | GO:0071391 | cellular response to estrogen stimulus | 5.26e-03 |
| PAK6 | GO:0099504 | synaptic vesicle cycle | 6.73e-03 |
| PAK6 | GO:0099003 | vesicle-mediated transport in synapse | 6.91e-03 |
| PAK6 | GO:0072659 | protein localization to plasma membrane | 1.26e-02 |
| PAK6 | GO:0051496 | positive regulation of stress fiber assembly | 1.30e-02 |
| PAK6 | GO:0032233 | positive regulation of actin filament bundle assembly | 1.40e-02 |
| PAK6 | GO:1990778 | protein localization to cell periphery | 1.40e-02 |
| PAK6 | GO:0043627 | response to estrogen | 1.42e-02 |
| PAK6 | GO:0048488 | synaptic vesicle endocytosis | 1.42e-02 |
| PAK6 | GO:0140238 | presynaptic endocytosis | 1.42e-02 |
| PAK6 | GO:0036465 | synaptic vesicle recycling | 1.68e-02 |
| PAK6 | GO:0010975 | regulation of neuron projection development | 1.77e-02 |
| PAK6 | GO:0007015 | actin filament organization | 1.77e-02 |
| PAK6 | GO:0051492 | regulation of stress fiber assembly | 1.77e-02 |
| PAK6 | GO:0110020 | regulation of actomyosin structure organization | 1.81e-02 |
| PAK6 | GO:0032231 | regulation of actin filament bundle assembly | 1.81e-02 |
| PAK6 | GO:0014812 | muscle cell migration | 1.81e-02 |
| PAK6 | GO:0030038 | contractile actin filament bundle assembly | 1.81e-02 |
| PAK6 | GO:0043149 | stress fiber assembly | 1.81e-02 |
| PAK6 | GO:0019079 | viral genome replication | 2.45e-02 |
| PAK6 | GO:0090316 | positive regulation of intracellular protein transport | 3.36e-02 |
| PAK6 | GO:0051017 | actin filament bundle assembly | 3.36e-02 |
| PAK6 | GO:0061572 | actin filament bundle organization | 3.38e-02 |
| PAK6 | GO:0007009 | plasma membrane organization | 3.44e-02 |
| PAK6 | GO:1902905 | positive regulation of supramolecular fiber organization | 3.50e-02 |
| PAK6 | GO:1905475 | regulation of protein localization to membrane | 3.59e-02 |
| PAK6 | GO:0051495 | positive regulation of cytoskeleton organization | 3.59e-02 |
| PAK6 | GO:0032388 | positive regulation of intracellular transport | 4.13e-02 |
| PAK6 | GO:0031032 | actomyosin structure organization | 4.27e-02 |
| PAK6 | GO:0051348 | negative regulation of transferase activity | 4.58e-02 |
| PAK6 | GO:0033157 | regulation of intracellular protein transport | 4.58e-02 |
| PAK6 | GO:2001234 | negative regulation of apoptotic signaling pathway | 4.58e-02 |
| PAK6 | GO:0045444 | fat cell differentiation | 4.58e-02 |
| PAK6 | GO:0016081 | synaptic vesicle docking | 4.58e-02 |
| PAK6 | GO:0060768 | regulation of epithelial cell proliferation involved in prostate gland development | 4.58e-02 |
| PAK6 | GO:0010764 | negative regulation of fibroblast migration | 4.58e-02 |
| PAK6 | GO:0033148 | positive regulation of intracellular estrogen receptor signaling pathway | 4.58e-02 |
| PAK6 | GO:0033327 | Leydig cell differentiation | 4.58e-02 |
| PAK6 | GO:0060601 | lateral sprouting from an epithelium | 4.58e-02 |
| PAK6 | GO:0060736 | prostate gland growth | 4.58e-02 |
| PAK6 | GO:0060742 | epithelial cell differentiation involved in prostate gland development | 4.58e-02 |
| PAK6 | GO:0060767 | epithelial cell proliferation involved in prostate gland development | 4.58e-02 |
| PAK6 | GO:0110053 | regulation of actin filament organization | 4.58e-02 |
| PAK6 | GO:0033145 | positive regulation of intracellular steroid hormone receptor signaling pathway | 4.58e-02 |
| PAK6 | GO:0035112 | genitalia morphogenesis | 4.58e-02 |
| PAK6 | GO:0045472 | response to ether | 4.58e-02 |
| PAK6 | GO:0071236 | cellular response to antibiotic | 4.58e-02 |
| PAK6 | GO:0071394 | cellular response to testosterone stimulus | 4.58e-02 |
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Related Drugs to HPCA_PAK6 |
| 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 HPCA-PAK6 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 HPCA_PAK6 |
| 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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