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Kinase Fusion Gene:PNCK_HCFC1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PNCK_HCFC1 | KinaseFusionDB ID: KFG4768 | FusionGDB2.0 ID: KFG4768 | Hgene | Tgene | Gene symbol | PNCK | HCFC1 | Gene ID | 139728 | 3054 | |
| Gene name | pregnancy up-regulated nonubiquitous CaM kinase | host cell factor C1 | ||||||||||
| Synonyms | BSTK3|CaMK1b | CFF|HCF|HCF-1|HCF1|HFC1|MAHCX|MRX3|PPP1R89|VCAF|XLID3 | ||||||||||
| Cytomap | Xq28 | Xq28 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | calcium/calmodulin-dependent protein kinase type 1BcaM kinase I betacaM kinase IBcaM-KI betacaMKI-betapregnancy up-regulated non-ubiquitously-expressed CaM kinasepregnancy upregulated non-ubiquitously expressed CaM kinase | host cell factor 1VP16-accessory proteinprotein phosphatase 1, regulatory subunit 89 | ||||||||||
| Modification date | 20240403 | 20240407 | ||||||||||
| UniProtAcc | Q6P2M8 | P51610 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000340888, ENST00000370142, ENST00000370145, ENST00000370150, ENST00000393831, ENST00000447676, ENST00000475172, | ENST00000310441, ENST00000354233, ENST00000369984, ENST00000461098, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PNCK [Title/Abstract] AND HCFC1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PNCK(152952886)-HCFC1(153230177), # samples:3 | |||||||||||
| 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 |
| Tgene | HCFC1 | GO:0006355 | regulation of DNA-templated transcription | 12670868 |
| Tgene | HCFC1 | GO:0010628 | positive regulation of gene expression | 21285374 |
| Tgene | HCFC1 | GO:0043254 | regulation of protein-containing complex assembly | 10675337 |
| Tgene | HCFC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20200153 |
| Tgene | HCFC1 | GO:0050821 | protein stabilization | 21285374 |
| Kinase Fusion gene breakpoints across PNCK (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 HCFC1 (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 |
| ChimerDB4 | TCGA-C8-A12Q-01A | PNCK | chrX | 152952886 | HCFC1 | chrX | 153230177 |
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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/:152952886/:153230177) - 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 |
| PNCK | HCFC1 |
| FUNCTION: Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional coregulator (By similarity). Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PubMed:10675337, PubMed:12244100). Coactivator for EGR2 and GABP2 (PubMed:12244100, PubMed:14532282). Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together (PubMed:12670868). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PubMed:20200153). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). Modulates expression of homeobox protein PDX1, perhaps acting in concert with transcription factor E2F1, thereby regulating pancreatic beta-cell growth and glucose-stimulated insulin secretion (By similarity). May negatively modulate transcriptional activity of FOXO3 (By similarity). {ECO:0000250|UniProtKB:D3ZN95, ECO:0000269|PubMed:10629049, ECO:0000269|PubMed:10675337, ECO:0000269|PubMed:10779346, ECO:0000269|PubMed:12244100, ECO:0000269|PubMed:12670868, ECO:0000269|PubMed:14532282, ECO:0000269|PubMed:15190068, ECO:0000269|PubMed:16624878, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:20200153, ECO:0000269|PubMed:23629655}.; FUNCTION: (Microbial infection) In case of human herpes simplex virus (HSV) infection, HCFC1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and POU2F1 thereby enabling the transcription of the viral immediate early genes. {ECO:0000269|PubMed:10629049, ECO:0000269|PubMed:17578910}. |
| 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 PNCK_HCFC1 |
| 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 |
| PNCK | Q6P2M8 | human | HSP90AA1 | P07900 | S391 | FIrGVVDsEDLPLNI | HSP90 |
| PNCK | Q6P2M8 | human | EIF4G3 | O43432 | S1156 | NTFMRGGssKDLLDN | |
| PNCK | Q6P2M8 | human | HSP90AB1 | P08238 | T89 | RtLtLVDtGIGMtkA | HATPase_c |
| PNCK | Q6P2M8 | human | HSP90AA1 | P07900 | T624 | QALRDNstMGyMAAk | HSP90 |
| 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 |
| PNCK | ID | Description | 0.00e+00 |
| PNCK | GO:1902947 | regulation of tau-protein kinase activity | 2.90e-04 |
| PNCK | GO:0051131 | chaperone-mediated protein complex assembly | 4.59e-04 |
| PNCK | GO:0051973 | positive regulation of telomerase activity | 4.59e-04 |
| PNCK | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 4.59e-04 |
| PNCK | GO:0021955 | central nervous system neuron axonogenesis | 4.59e-04 |
| PNCK | GO:1904407 | positive regulation of nitric oxide metabolic process | 4.59e-04 |
| PNCK | GO:0051972 | regulation of telomerase activity | 5.50e-04 |
| PNCK | GO:0045428 | regulation of nitric oxide biosynthetic process | 7.08e-04 |
| PNCK | GO:0080164 | regulation of nitric oxide metabolic process | 7.08e-04 |
| PNCK | GO:0034605 | cellular response to heat | 7.08e-04 |
| PNCK | GO:0007004 | telomere maintenance via telomerase | 7.08e-04 |
| PNCK | GO:2000573 | positive regulation of DNA biosynthetic process | 7.08e-04 |
| PNCK | GO:0006809 | nitric oxide biosynthetic process | 7.08e-04 |
| PNCK | GO:0006278 | RNA-templated DNA biosynthetic process | 7.08e-04 |
| PNCK | GO:0046209 | nitric oxide metabolic process | 7.08e-04 |
| PNCK | GO:2001057 | reactive nitrogen species metabolic process | 7.08e-04 |
| PNCK | GO:0010833 | telomere maintenance via telomere lengthening | 7.08e-04 |
| PNCK | GO:0021954 | central nervous system neuron development | 8.08e-04 |
| PNCK | GO:0009408 | response to heat | 9.94e-04 |
| PNCK | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 9.94e-04 |
| PNCK | GO:2000278 | regulation of DNA biosynthetic process | 1.20e-03 |
| PNCK | GO:0048675 | axon extension | 1.22e-03 |
| PNCK | GO:0006986 | response to unfolded protein | 1.46e-03 |
| PNCK | GO:0033135 | regulation of peptidyl-serine phosphorylation | 1.46e-03 |
| PNCK | GO:0000723 | telomere maintenance | 1.72e-03 |
| PNCK | GO:0030010 | establishment of cell polarity | 1.72e-03 |
| PNCK | GO:0035966 | response to topologically incorrect protein | 1.72e-03 |
| PNCK | GO:0009266 | response to temperature stimulus | 1.86e-03 |
| PNCK | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1.86e-03 |
| PNCK | GO:1990138 | neuron projection extension | 1.94e-03 |
| PNCK | GO:0021953 | central nervous system neuron differentiation | 1.94e-03 |
| PNCK | GO:0032200 | telomere organization | 2.01e-03 |
| PNCK | GO:0071897 | DNA biosynthetic process | 2.10e-03 |
| PNCK | GO:0031396 | regulation of protein ubiquitination | 2.16e-03 |
| PNCK | GO:0050821 | protein stabilization | 2.47e-03 |
| PNCK | GO:0006457 | protein folding | 2.54e-03 |
| PNCK | GO:0007163 | establishment or maintenance of cell polarity | 2.58e-03 |
| PNCK | GO:0022618 | protein-RNA complex assembly | 2.61e-03 |
| PNCK | GO:0048588 | developmental cell growth | 2.61e-03 |
| PNCK | GO:0071826 | protein-RNA complex organization | 2.61e-03 |
| PNCK | GO:1903320 | regulation of protein modification by small protein conjugation or removal | 2.61e-03 |
| PNCK | GO:0060560 | developmental growth involved in morphogenesis | 2.61e-03 |
| PNCK | GO:0051896 | regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 2.63e-03 |
| PNCK | GO:0045860 | positive regulation of protein kinase activity | 3.29e-03 |
| PNCK | GO:1901873 | regulation of post-translational protein modification | 3.29e-03 |
| PNCK | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 3.36e-03 |
| PNCK | GO:0018105 | peptidyl-serine phosphorylation | 3.40e-03 |
| PNCK | GO:0051054 | positive regulation of DNA metabolic process | 3.40e-03 |
| PNCK | GO:0018209 | peptidyl-serine modification | 3.55e-03 |
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Related Drugs to PNCK_HCFC1 |
| 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 PNCK-HCFC1 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 PNCK_HCFC1 |
| 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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