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Kinase Fusion Gene:C16orf72_PAK1 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: C16orf72_PAK1 | KinaseFusionDB ID: KFG788 | FusionGDB2.0 ID: KFG788 | Hgene | Tgene | Gene symbol | C16orf72 | PAK1 | Gene ID | 29035 | 5585 | |
Gene name | HUWE1 associated protein modifying stress responses | protein kinase N1 | ||||||||||
Synonyms | C16orf72|PRO0149|TAPR1 | DBK|PAK-1|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1 | ||||||||||
Cytomap | 16p13.2 | 19p13.12 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | HUWE1-associated protein modifying stress responses 1Telomere Attrition and p53 Response 1UPF0472 protein C16orf72telomere attrition and p53 response 1 protein | serine/threonine-protein kinase N1protease-activated kinase 1protein kinase C-like 1protein kinase C-like PKNprotein kinase C-related kinase 1protein kinase PKN-alphaserine-threonine kinase Nserine/threonine protein kinase N | ||||||||||
Modification date | 20240305 | 20240305 | ||||||||||
UniProtAcc | Q14CZ0 | Q16512 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000327827, | ENST00000356341, ENST00000530617, ENST00000278568, ENST00000525542, ENST00000528203, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: C16orf72 [Title/Abstract] AND PAK1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | C16orf72(9211423)-PAK1(77033744), # samples:1 |
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 | C16orf72 | GO:0080135 | regulation of cellular response to stress | 35776542 |
Tgene | PAK1 | GO:0006357 | regulation of transcription by RNA polymerase II | 12514133 |
Tgene | PAK1 | GO:0006468 | protein phosphorylation | 17332740 |
Tgene | PAK1 | GO:0043687 | post-translational protein modification | 18066052 |
Kinase Fusion gene breakpoints across C16orf72 (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 PAK1 (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 | BM720598 | C16orf72 | chr16 | 9211423 | PAK1 | chr11 | 77033744 |
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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/:9211423/:77033744) - 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 |
C16orf72 | PAK1 |
FUNCTION: Acts as a central player within a network of stress response pathways promoting cellular adaptability. The E3 ligase HUWE1 assists HAPSTR1 in controlling stress signaling and in turn, HUWE1 feeds back to promote the degradation of HAPSTR1. HAPSTR1 represents a central coordination mechanism for stress response programs (PubMed:35776542). Functions as a negative regulator of TP53/P53 in the cellular response to telomere erosion and probably also DNA damage (PubMed:33660365). May attenuate p53/TP53 activation through the E3 ubiquitin ligase HUWE1 (PubMed:33660365). {ECO:0000269|PubMed:33660365, ECO:0000269|PubMed:35776542}. | FUNCTION: PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (AR)-dependent transcription, by being recruited to AR target genes and specifically mediating phosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser-159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro. {ECO:0000269|PubMed:11104762, ECO:0000269|PubMed:12514133, ECO:0000269|PubMed:17332740, ECO:0000269|PubMed:18066052, ECO:0000269|PubMed:20188095, ECO:0000269|PubMed:21224381, ECO:0000269|PubMed:21754995, ECO:0000269|PubMed:24248594, ECO:0000269|PubMed:8557118, ECO:0000269|PubMed:8621664, ECO:0000269|PubMed:9175763}. |
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 C16orf72_PAK1 |
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 |
PAK1 | Q13153 | human | FXR1 | P51114 | S420 | sERkDELsDWsLAGE | FXMRP1_C_core |
PAK1 | Q13153 | human | ARPC1B | O15143 | T21 | HAWNkDRtQIAICPN | |
PAK1 | Q13153 | human | GNAZ | P19086 | S16 | EKEAARRsRRIDRHL | G-alpha |
PAK1 | Q13153 | human | ARHGEF2 | Q92974 | S886 | PVDPRRRsLPAGDAL | |
PAK1 | Q13153 | human | MAP3K1 | Q13233 | S67 | RQLRKVRsVELDQLP | |
PAK1 | Q13153 | human | TBCB | Q99426 | S128 | VRsFLKRsKLGRyNE | |
PAK1 | Q13153 | human | CRK | P46108 | S41 | VFLVRDsstsPGDyV | SH2 |
PAK1 | Q13153 | human | CTNNB1 | P35222 | S675 | QDykKRLsVELtsSL | |
PAK1 | Q13153 | human | GDI2 | P50395 | T248 | LSAIyGGtYMLNkPI | GDI |
PAK1 | Q13153 | human | MICAL1 | Q8TDZ2 | S817 | sPERQRLssLNLtPD | |
PAK1 | Q13153 | human | PXN | P49023 | S258 | tQQQtRIsAssAtRE | |
PAK1 | Q13153 | human | GDI2 | P50395 | S382 | PIEQkFVsIsDLLVP | GDI |
PAK1 | Q13153 | human | TBCB | Q99426 | S65 | GVDDKFYskLDQEDA | Ubiquitin_2 |
PAK1 | Q13153 | human | PXN | P49023-2 | S272 | ELDELMAsLSDFKFM | |
PAK1 | Q13153 | human | PLK1 | P53350 | S49 | EVLVDPRsRRRYVRG | |
PAK1 | Q13153 | human | H3C1 | P68431 | S10 | tkQtArkstGGkAPr | Histone |
PAK1 | Q13153 | human | PAK1 | Q13153 | S204 | tKsVyTRsVIEPLPV | |
PAK1 | Q13153 | human | SNAI1 | O95863 | S246 | QACARTFsRMsLLHK | |
PAK1 | Q13153 | human | FLNA | P21333 | S2292 | FEDRkDGsCGVAYVV | Filamin |
PAK1 | Q13153 | human | ARHGDIA | P52565 | S174 | kGMLARGsYsIkSRF | Rho_GDI |
PAK1 | Q13153 | human | PCBP1 | Q15365 | T60 | NCPERIItLTGPTNA | KH_1 |
PAK1 | Q13153 | human | CTTN | Q14247 | S405 | KtQtPPVsPAPQPtE | |
PAK1 | Q13153 | human | DYNLL1 | P63167 | S88 | VAILLFKsG______ | Dynein_light |
PAK1 | Q13153 | human | ARL4A | P40617 | S143 | QDLRNSLsLSEIEKL | Arf |
PAK1 | Q13153 | human | NLRP3 | Q96P20 | S198 | GKTKTCEsPVSPIKM | FISNA |
PAK1 | Q13153 | human | ARL4D | P49703 | S144 | QDQPGALsAAEVEkR | Arf |
PAK1 | Q13153 | human | SPEN | Q96T58 | T3568 | EGVARRMtVETDYCL | SPOC |
PAK1 | Q13153 | human | ARHGEF2 | Q92974-2 | S885 | PVDPRRRsLPAGDAL | |
PAK1 | Q13153 | human | AURKA | O14965 | S342 | QETYKRIsRVEFTFP | Pkinase |
PAK1 | Q13153 | human | STMN1 | P16949 | S38 | sVPEFPLsPPkKkDL | Stathmin |
PAK1 | Q13153 | human | GIT1 | Q9Y2X7 | S700 | PALEPVRsSLRLLNA | GIT1_C |
PAK1 | Q13153 | human | PCBP1 | Q15365 | T127 | IKEIREStGAQVQVA | KH_1 |
PAK1 | Q13153 | human | NF2 | P35240 | S518 | DTDMKRLsMEIEKEK | ERM_C |
PAK1 | Q13153 | human | PA2G4 | Q9UQ80 | T261 | QyGLkMktSRAFFsE | Peptidase_M24 |
PAK1 | Q13153 | human | RUNX3 | Q13761 | T209 | ERLRMRVtPstPsPr | |
PAK1 | Q13153 | human | ARHGDIA | P52565 | S101 | LEsFKkQsFVLkEGV | Rho_GDI |
PAK1 | Q13153 | human | STMN1 | P16949 | S16 | kELEKrAsGQAFELI | Stathmin |
PAK1 | Q13153 | human | MAP2K1 | Q02750 | S298 | RtPGRPLssyGMDSR | Pkinase |
PAK1 | Q13153 | human | BAD | Q92934 | S99 | PFrGrsRsAPPNLWA | Bcl-2_BAD |
PAK1 | Q13153 | human | KIF2C | Q99661 | S111 | kEsLRsRstRMstVS | |
PAK1 | Q13153 | human | AURKA | O14965 | T288 | APSsRRttLCGtLDy | Pkinase |
PAK1 | Q13153 | human | PGM1 | P36871 | T467 | SANDKVYtVEkADNF | |
PAK1 | Q13153 | human | PAK1 | Q13153 | S199 | PRPEHtKsVyTRsVI | |
PAK1 | Q13153 | human | RAF1 | P04049 | S339 | PRGQRDssyyWEIEA | |
PAK1 | Q13153 | human | ILK | Q13418 | S246 | CPRLRIFsHPNVLPV | PK_Tyr_Ser-Thr |
PAK1 | Q13153 | human | BAD | Q92934 | S75 | EIRsRHssyPAGtED | Bcl-2_BAD |
PAK1 | Q13153 | human | KIF2C | Q99661 | S192 | VNsVRRKsCLVkEVE | |
PAK1 | Q13153 | human | PGAM1 | P18669 | S23 | WNLENrFsGWyDADL | His_Phos_1 |
PAK1 | Q13153 | human | ARHGDIA | P52565 | S176 | MLARGsYsIkSRFTD | Rho_GDI |
PAK1 | Q13153 | human | ELF3 | P78545 | S207 | GTGASRSsHSSDsGG | |
PAK1 | Q13153 | human | MORC2 | Q9Y6X9 | S739 | AtPsRKRsVAVsDEE | |
PAK1 | Q13153 | human | CTTN | Q14247 | S113 | skLskHCsQVDsVrG | HS1_rep |
PAK1 | Q13153 | human | NLRP3 | Q96P20 | T659 | KIEINLStRMDHMVS | |
PAK1 | Q13153 | human | BAD | Q92934 | S118 | GRELRRMsDEFVDsF | Bcl-2_BAD |
PAK1 | Q13153 | human | GIT1 | Q9Y2X7 | S508 | RRDRQAFsMyEPGsA | |
PAK1 | Q13153 | human | ITGB3BP | Q13352 | S28 | SkITRKKsVITysPT | CENP-R |
PAK1 | Q13153 | human | BAD | Q92934 | S74 | VEIRsRHssyPAGtE | Bcl-2_BAD |
PAK1 | Q13153 | human | NLRP3 | Q96P20 | S163 | ARLGEsVsLNKRYTR | FISNA |
PAK1 | Q13153 | human | MYL9 | P24844 | S20 | KRPQRAtsNVFAMFD | |
PAK1 | Q13153 | human | FLNA | P21333 | S2152 | tRRRRAPsVANVGsH | Filamin |
PAK1 | Q13153 | human | SNAI2 | O43623 | S251 | KNCsKTFsRMsLLHK | zf-C2H2 |
PAK1 | Q13153 | human | FLNA | P21333 | S2370 | AIDAkVHsPsGALEE | Filamin |
PAK1 | Q13153 | human | BRAF | P15056 | S446 | KtLGRRDssDDWEIP | |
PAK1 | Q13153 | human | PGAM1 | P18669 | S118 | QVkIWRRsyDVPPPP | His_Phos_1 |
PAK1 | Q13153 | human | CTNNB1 | P35222 | S552 | QDtQRRtsMGGtQQQ | |
PAK1 | Q13153 | human | SPEN | Q96T58 | S3486 | QPAPKQDssPHLTSQ | |
PAK1 | Q13153 | human | CTTN | Q14247 | S418 | tEErLPssPVyEDAA | |
PAK1 | Q13153 | human | LIMK1 | P53667 | T508 | PDRKKRYtVVGNPYW | PK_Tyr_Ser-Thr |
PAK1 | Q13153 | human | PAK1 | Q13153 | S144 | sNsQKyMsFtDksAE | |
PAK1 | Q13153 | human | RAF1 | P04049 | S338 | RPRGQRDssyyWEIE | |
PAK1 | Q13153 | human | PREX2 | Q70Z35 | S1107 | DTISNRDsYSDCNSN | |
PAK1 | Q13153 | human | ILK | Q13418 | T173 | DTFWkGttRTRPRNG | |
PAK1 | Q13153 | human | CTBP1 | Q13363 | S158 | REGTRVQsVEQIREV | 2-Hacid_dh_C; 2-Hacid_dh |
PAK1 | Q13153 | human | PAK1 | Q13153 | T423 | PEQSkRstMVGtPYW | Pkinase |
PAK1 | Q13153 | human | MICAL1 | Q8TDZ2 | S960 | ELALRRQssSPEQQK | bMERB_dom |
PAK1 | Q13153 | human | HACE1 | Q8IYU2 | S385 | LMKNKRDsTEITsIL | |
PAK1 | Q13153 | human | ESR1 | P03372 | S305 | IkRSkkNsLALSLtA | |
PAK1 | Q13153 | human | MYLK | Q15746 | S1772 | SGLsGRKsstGsPts | |
PAK1 | Q13153 | human | BAD | Q92934 | S134 | KGLPRPKsAGtAtQM | Bcl-2_BAD |
PAK1 | Q13153 | human | VIM | P08670 | S56 | srsLyAssPGGVyAt | Filament_head |
PAK1 | Q13153 | human | ATG5 | Q9H1Y0 | T101 | SALPWNItVHFKSFP | APG5 |
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 |
PAK1 | ID | Description | 0.00e+00 |
PAK1 | GO:0051017 | actin filament bundle assembly | 7.15e-06 |
PAK1 | GO:0061572 | actin filament bundle organization | 7.15e-06 |
PAK1 | GO:0032233 | positive regulation of actin filament bundle assembly | 7.15e-06 |
PAK1 | GO:0032231 | regulation of actin filament bundle assembly | 7.15e-06 |
PAK1 | GO:1902905 | positive regulation of supramolecular fiber organization | 8.29e-06 |
PAK1 | GO:0051495 | positive regulation of cytoskeleton organization | 9.71e-06 |
PAK1 | GO:0007015 | actin filament organization | 9.71e-06 |
PAK1 | GO:1902903 | regulation of supramolecular fiber organization | 1.82e-05 |
PAK1 | GO:0051492 | regulation of stress fiber assembly | 4.26e-05 |
PAK1 | GO:0051496 | positive regulation of stress fiber assembly | 4.66e-05 |
PAK1 | GO:0032956 | regulation of actin cytoskeleton organization | 4.66e-05 |
PAK1 | GO:0110020 | regulation of actomyosin structure organization | 6.18e-05 |
PAK1 | GO:0030038 | contractile actin filament bundle assembly | 6.98e-05 |
PAK1 | GO:0043149 | stress fiber assembly | 6.98e-05 |
PAK1 | GO:0007264 | small GTPase mediated signal transduction | 7.90e-05 |
PAK1 | GO:0110053 | regulation of actin filament organization | 7.90e-05 |
PAK1 | GO:0032970 | regulation of actin filament-based process | 8.07e-05 |
PAK1 | GO:0031032 | actomyosin structure organization | 1.50e-04 |
PAK1 | GO:0010720 | positive regulation of cell development | 2.67e-04 |
PAK1 | GO:0007265 | Ras protein signal transduction | 3.33e-04 |
PAK1 | GO:0031589 | cell-substrate adhesion | 4.35e-04 |
PAK1 | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | 4.38e-04 |
PAK1 | GO:0022411 | cellular component disassembly | 5.51e-04 |
PAK1 | GO:1903034 | regulation of response to wounding | 5.70e-04 |
PAK1 | GO:0034446 | substrate adhesion-dependent cell spreading | 5.74e-04 |
PAK1 | GO:0048538 | thymus development | 6.92e-04 |
PAK1 | GO:0046578 | regulation of Ras protein signal transduction | 6.98e-04 |
PAK1 | GO:0071470 | cellular response to osmotic stress | 8.16e-04 |
PAK1 | GO:0051056 | regulation of small GTPase mediated signal transduction | 9.24e-04 |
PAK1 | GO:1900024 | regulation of substrate adhesion-dependent cell spreading | 1.44e-03 |
PAK1 | GO:0048732 | gland development | 1.44e-03 |
PAK1 | GO:0031109 | microtubule polymerization or depolymerization | 1.86e-03 |
PAK1 | GO:0007266 | Rho protein signal transduction | 2.00e-03 |
PAK1 | GO:0061311 | cell surface receptor signaling pathway involved in heart development | 2.67e-03 |
PAK1 | GO:2001234 | negative regulation of apoptotic signaling pathway | 2.67e-03 |
PAK1 | GO:0044342 | type B pancreatic cell proliferation | 3.17e-03 |
PAK1 | GO:0032886 | regulation of microtubule-based process | 3.47e-03 |
PAK1 | GO:0006970 | response to osmotic stress | 3.47e-03 |
PAK1 | GO:0039694 | viral RNA genome replication | 3.47e-03 |
PAK1 | GO:0048679 | regulation of axon regeneration | 3.47e-03 |
PAK1 | GO:0070507 | regulation of microtubule cytoskeleton organization | 3.47e-03 |
PAK1 | GO:0035023 | regulation of Rho protein signal transduction | 3.47e-03 |
PAK1 | GO:0030878 | thyroid gland development | 3.60e-03 |
PAK1 | GO:0050767 | regulation of neurogenesis | 3.60e-03 |
PAK1 | GO:0061351 | neural precursor cell proliferation | 3.66e-03 |
PAK1 | GO:0070570 | regulation of neuron projection regeneration | 3.72e-03 |
PAK1 | GO:2001233 | regulation of apoptotic signaling pathway | 3.83e-03 |
PAK1 | GO:0031110 | regulation of microtubule polymerization or depolymerization | 5.14e-03 |
PAK1 | GO:0042060 | wound healing | 5.36e-03 |
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Related Drugs to C16orf72_PAK1 |
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 C16orf72-PAK1 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 C16orf72_PAK1 |
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 |