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Kinase Fusion Gene:DAB1_CDK4 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: DAB1_CDK4 | KinaseFusionDB ID: KFG1587 | FusionGDB2.0 ID: KFG1587 | Hgene | Tgene | Gene symbol | DAB1 | CDK4 | Gene ID | 352909 | 1019 | |
Gene name | cyclin dependent kinase 4 | |||||||||||
Synonyms | CMM3|PSK-J3 | |||||||||||
Cytomap | 12q14.1 | |||||||||||
Type of gene | protein-coding | |||||||||||
Description | cyclin-dependent kinase 4cell division protein kinase 4 | |||||||||||
Modification date | 20240416 | |||||||||||
UniProtAcc | O75553 | P11802 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000485760, ENST00000371230, ENST00000371231, ENST00000371234, ENST00000371236, ENST00000414851, ENST00000420954, ENST00000439789, | ENST00000257904, ENST00000312990, ENST00000540325, ENST00000549606, ENST00000551888, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: DAB1 [Title/Abstract] AND CDK4 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DAB1(58971732)-CDK4(58142400), # 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 |
Tgene | CDK4 | GO:0000082 | G1/S transition of mitotic cell cycle | 19237565 |
Tgene | CDK4 | GO:0006468 | protein phosphorylation | 8114739 |
Tgene | CDK4 | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | 19124461 |
Tgene | CDK4 | GO:0051726 | regulation of cell cycle | 19124461 |
Kinase Fusion gene breakpoints across DAB1 (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 CDK4 (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-DX-A23V-01A | DAB1 | chr1 | 58971732 | CDK4 | chr12 | 58142400 |
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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/:58971732/:58142400) - 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 |
DAB1 | CDK4 |
FUNCTION: Adapter molecule functioning in neural development. May regulate SIAH1 activity. {ECO:0000250|UniProtKB:P97318}. | FUNCTION: Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. {ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403, ECO:0000269|PubMed:9003781}. |
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 DAB1_CDK4 |
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 |
CDK4 | P11802 | human | RB1 | P06400 | S780 | strPPtLsPIPHIPr | Rb_C |
CDK4 | P11802 | human | TFEB | P19484 | S467 | KASsRRssFsMEEGD | DUF3371 |
CDK4 | P11802 | human | RBL2 | Q08999 | T401 | SKALRIStPLtGVRY | |
CDK4 | P11802 | human | TFEB | P19484 | T331 | RVHGLPttsPsGMNM | DUF3371 |
CDK4 | P11802 | human | FOXM1 | Q08050 | T510 | EDSSQsPtPRPKKSy | |
CDK4 | P11802 | human | CDC25A | P30304 | S40 | ASAAGGLsPVTNLTV | |
CDK4 | P11802 | human | FOXO1 | Q12778 | S249 | EGGkSGksPrRrAAs | |
CDK4 | P11802 | human | TP73 | O15350 | T86 | AASASPYtPEHAASV | |
CDK4 | P11802 | human | DNMT1 | P26358 | S127 | VGMADANsPPKPLsk | |
CDK4 | P11802 | human | MEF2D | Q14814 | S98 | KGFNGCDsPEPDGED | HJURP_C |
CDK4 | P11802 | human | FOXM1 | Q08050 | T611 | ETLPISstPSkSVLP | |
CDK4 | P11802 | human | TSC2 | P49815 | S1452 | LPSssPRsPsGLrPr | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S508 | sWEDSSQsPtPRPKK | |
CDK4 | P11802 | human | EGLN2 | Q96KS0 | S130 | EDGGDAPsPsKRPWA | |
CDK4 | P11802 | human | TCF3 | P15923 | S245 | PMLGGGSsPLPLPPG | |
CDK4 | P11802 | human | WDR77 | Q9BQA1 | S264 | CVTGLVFsPHSVPFL | |
CDK4 | P11802 | human | VCP | P55072 | S664 | LkANLRksPVAkDVD | |
CDK4 | P11802 | human | DNMT1 | P26358 | S954 | TFNIKLSsPVkRPRk | BAH |
CDK4 | P11802 | human | TFEB | P19484 | S211 | LVGVTSSsCPADLTQ | |
CDK4 | P11802 | human | RB1 | P06400 | T356 | DsFEtQRtPRksNLD | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S522 | KSySGLRsPtRCVSE | |
CDK4 | P11802 | human | RB1 | P06400 | T826 | LPtPtkMtPRsRILV | Rb_C |
CDK4 | P11802 | human | TCF3 | P15923 | S139 | LNsPGPLsPsGMKGT | |
CDK4 | P11802 | human | RBL2 | Q08999 | S672 | tLyDRySsPPAsTtR | |
CDK4 | P11802 | human | FLCN | Q8NFG4 | S571 | HLMSTVRsPTASESR | |
CDK4 | P11802 | human | RB1 | P06400 | S795 | sPykFPssPLrIPGG | Rb_C |
CDK4 | P11802 | human | RUNX3 | Q13761 | S356 | SSSGGDRsPTRMLAS | RunxI |
CDK4 | P11802 | human | CELF1 | Q92879 | S302 | TSSGSsPsSSSSNSV | |
CDK4 | P11802 | human | RB1 | P06400 | T252 | PINGsPRtPRRGQNR | |
CDK4 | P11802 | human | RBL1 | P28749 | S975 | HIKQQPGsPRRIsQQ | Rb_C |
CDK4 | P11802 | human | RBL1 | P28749 | T369 | KRSFAPstPLtGRRY | |
CDK4 | P11802 | human | KAT2A | Q92830 | T272 | LNYWKLEtPAQFRQR | PCAF_N |
CDK4 | P11802 | human | GATA4 | P43694 | S105 | AYTPPPVsPRFsFPG | GATA-N |
CDK4 | P11802 | human | RB1 | P06400 | S788 | PIPHIPrsPykFPss | Rb_C |
CDK4 | P11802 | human | FOXM1 | Q08050 | T627 | tPEsWRLtPPAKVGG | |
CDK4 | P11802 | human | CDKN1A | P38936 | S98 | GGRRPGTsPALLQGT | |
CDK4 | P11802 | human | RB1 | P06400 | S249 | AVIPINGsPRtPRRG | |
CDK4 | P11802 | human | SMAD3 | P84022 | T179 | PQSNIPEtPPPGYLS | |
CDK4 | P11802 | human | RBL2 | Q08999 | S1035 | NMDAPPLsPyPFVRt | |
CDK4 | P11802 | human | SMAD3 | P84022 | S213 | NLsPNPMsPAHNNLD | |
CDK4 | P11802 | human | RB1 | P06400 | S612 | MyLsPVRsPKKKGsT | |
CDK4 | P11802 | human | FLCN | Q8NFG4 | S73 | GAsVEsssPGPKKSD | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S704 | IDVPKPGsPEPQVSG | |
CDK4 | P11802 | human | TFEB | P19484 | S142 | AGNsAPNsPMAMLHI | MITF_TFEB_C_3_N |
CDK4 | P11802 | human | RUNX2 | Q13950 | S465 | MVPGGDRsPSRMLPP | RunxI |
CDK4 | P11802 | human | RBL1 | P28749 | S640 | RRDMQPLsPIsVHER | |
CDK4 | P11802 | human | PELP1 | Q8IZL8 | S477 | ADALKLRsPRGsPDG | NUC202 |
CDK4 | P11802 | human | CDKN1A | P38936 | S130 | sGEQAEGsPGGPGDs | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S489 | PPLEEWPsPAPSFkE | |
CDK4 | P11802 | human | SMAD3 | P84022 | S208 | DAGsPNLsPNPMsPA | |
CDK4 | P11802 | human | BRCA1 | P38398 | S632 | LVVSRNLsPPNCTEL | |
CDK4 | P11802 | human | TFEB | P19484 | S114 | HIsPAQGsPkPPPAA | MITF_TFEB_C_3_N |
CDK4 | P11802 | human | SMAD3 | P84022 | S204 | NHSMDAGsPNLsPNP | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S4 | ____MKTsPRRPLIL | |
CDK4 | P11802 | human | KAT2A | Q92830 | S372 | EEIYGANsPIWESGF | |
CDK4 | P11802 | human | TFE3 | P19532 | S246 | PTGSAPNsPMALLTI | MITF_TFEB_C_3_N |
CDK4 | P11802 | human | FLNA | P21333 | S2152 | tRRRRAPsVANVGsH | Filamin |
CDK4 | P11802 | human | RB1 | P06400 | T373 | VNVIPPHtPVRTVMN | RB_A |
CDK4 | P11802 | human | SOD2 | P04179 | S106 | SIFWTNLsPNGGGEP | Sod_Fe_N |
CDK4 | P11802 | human | RPRM | Q9NS64 | S98 | LVKDRRPsKEVEAVV | |
CDK4 | P11802 | human | MDM4 | O15151 | S314 | TECKKFNsPSKRYCF | zf-RanBP |
CDK4 | P11802 | human | FOXM1 | Q08050 | T600 | EVGGPFKtPIkETLP | |
CDK4 | P11802 | human | TP53 | P04637 | R249 | CMGGMNRrPILTIIT | P53 |
CDK4 | P11802 | human | RBL1 | P28749 | S964 | MMDAPPLsPFPHIKQ | Rb_C |
CDK4 | P11802 | human | VCP | P55072 | T509 | kFLkFGMtPskGVLF | |
CDK4 | P11802 | human | TOB2 | Q14106 | S254 | PAPQSQLsPNAKEFV | PAM2 |
CDK4 | P11802 | human | RB1 | P06400 | S608 | tAADMyLsPVRsPKK | |
CDK4 | P11802 | human | RB1 | P06400 | S807 | PGGNIyIsPLksPyk | Rb_C |
CDK4 | P11802 | human | FLNA | P21333 | S1459 | kCsGPGLsPGMVRAN | Filamin |
CDK4 | P11802 | human | SMAD3 | P84022 | T8 | MSSILPFtPPIVkRL | |
CDK4 | P11802 | human | FOXM1 | Q08050 | T620 | SkSVLPRtPEsWRLt | |
CDK4 | P11802 | human | WDR77 | Q9BQA1 | S306 | FVRDATWsPLNHSLL | |
CDK4 | P11802 | human | SPOP | O43791 | S6 | __MSRVPsPPPPAEM | |
CDK4 | P11802 | human | RASSF1 | Q9NS23-2 | S203 | TsVRRRtsFYLPKDA | RA |
CDK4 | P11802 | human | TSC2 | P49815 | S1217 | MSLENPLsPFSSDIN | |
CDK4 | P11802 | human | RB1 | P06400 | S811 | IyIsPLksPykIsEG | Rb_C |
CDK4 | P11802 | human | WDR77 | Q9BQA1 | T5 | ___MRkEtPPPLVPP | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S451 | LLFGEGFsPLLPVQT | |
CDK4 | P11802 | human | MEF2D | Q14814 | S110 | GEDsLEQsPLLEDKy | HJURP_C |
CDK4 | P11802 | human | FLCN | Q8NFG4 | S62 | NSRMRAHsPAEGAsV | |
CDK4 | P11802 | human | FOXM1 | Q08050 | S35 | SEEEPKRsPAQQEsN |
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 |
CDK4 | ID | Description | 0.00e+00 |
CDK4 | GO:0031667 | response to nutrient levels | 1.70e-05 |
CDK4 | GO:2000377 | regulation of reactive oxygen species metabolic process | 1.84e-04 |
CDK4 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 1.95e-04 |
CDK4 | GO:0045786 | negative regulation of cell cycle | 1.95e-04 |
CDK4 | GO:1902807 | negative regulation of cell cycle G1/S phase transition | 1.95e-04 |
CDK4 | GO:0009267 | cellular response to starvation | 1.95e-04 |
CDK4 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 2.11e-04 |
CDK4 | GO:1901991 | negative regulation of mitotic cell cycle phase transition | 2.11e-04 |
CDK4 | GO:0097193 | intrinsic apoptotic signaling pathway | 2.11e-04 |
CDK4 | GO:0010948 | negative regulation of cell cycle process | 2.11e-04 |
CDK4 | GO:0044772 | mitotic cell cycle phase transition | 2.11e-04 |
CDK4 | GO:0051216 | cartilage development | 2.28e-04 |
CDK4 | GO:0002062 | chondrocyte differentiation | 2.42e-04 |
CDK4 | GO:0070482 | response to oxygen levels | 2.46e-04 |
CDK4 | GO:0042594 | response to starvation | 2.46e-04 |
CDK4 | GO:0009895 | negative regulation of catabolic process | 2.47e-04 |
CDK4 | GO:1901990 | regulation of mitotic cell cycle phase transition | 2.60e-04 |
CDK4 | GO:0072593 | reactive oxygen species metabolic process | 3.09e-04 |
CDK4 | GO:0045599 | negative regulation of fat cell differentiation | 3.40e-04 |
CDK4 | GO:0006978 | DNA damage respons | 4.28e-06 |
CDK4 | GO:0045930 | negative regulation of mitotic cell cycle | 3.40e-04 |
CDK4 | GO:0042772 | DNA damage respons | 5.08e-06 |
CDK4 | GO:0000082 | G1/S transition of mitotic cell cycle | 3.40e-04 |
CDK4 | GO:0055093 | response to hyperoxia | 3.61e-04 |
CDK4 | GO:0045598 | regulation of fat cell differentiation | 3.61e-04 |
CDK4 | GO:0044839 | cell cycle G2/M phase transition | 4.66e-04 |
CDK4 | GO:0030330 | DNA damage respons | 8.75e-06 |
CDK4 | GO:0044843 | cell cycle G1/S phase transition | 4.79e-04 |
CDK4 | GO:0006606 | protein import into nucleus | 4.79e-04 |
CDK4 | GO:0031668 | cellular response to extracellular stimulus | 4.79e-04 |
CDK4 | GO:0060537 | muscle tissue development | 4.79e-04 |
CDK4 | GO:0061448 | connective tissue development | 4.91e-04 |
CDK4 | GO:0051170 | import into nucleus | 5.05e-04 |
CDK4 | GO:1901987 | regulation of cell cycle phase transition | 6.15e-04 |
CDK4 | GO:0072331 | signal transduction by p53 class mediator | 6.18e-04 |
CDK4 | GO:0036296 | response to increased oxygen levels | 6.20e-04 |
CDK4 | GO:0010660 | regulation of muscle cell apoptotic process | 6.20e-04 |
CDK4 | GO:0034504 | protein localization to nucleus | 6.75e-04 |
CDK4 | GO:2000045 | regulation of G1/S transition of mitotic cell cycle | 6.94e-04 |
CDK4 | GO:0050673 | epithelial cell proliferation | 7.37e-04 |
CDK4 | GO:0010657 | muscle cell apoptotic process | 7.40e-04 |
CDK4 | GO:0030308 | negative regulation of cell growth | 7.40e-04 |
CDK4 | GO:0042770 | signal transduction in response to DNA damage | 7.40e-04 |
CDK4 | GO:0007264 | small GTPase mediated signal transduction | 7.73e-04 |
CDK4 | GO:1904705 | regulation of vascular associated smooth muscle cell proliferation | 7.73e-04 |
CDK4 | GO:0016049 | cell growth | 8.07e-04 |
CDK4 | GO:1990874 | vascular associated smooth muscle cell proliferation | 8.07e-04 |
CDK4 | GO:0062012 | regulation of small molecule metabolic process | 8.69e-04 |
CDK4 | GO:0007265 | Ras protein signal transduction | 9.11e-04 |
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Related Drugs to DAB1_CDK4 |
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 DAB1-CDK4 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 DAB1_CDK4 |
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 |