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Kinase Fusion Gene:CDK6_SLC25A13 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CDK6_SLC25A13 | KinaseFusionDB ID: KFG1187 | FusionGDB2.0 ID: KFG1187 | Hgene | Tgene | Gene symbol | CDK6 | SLC25A13 | Gene ID | 1021 | 10165 | |
| Gene name | cyclin dependent kinase 6 | solute carrier family 25 member 13 | ||||||||||
| Synonyms | MCPH12|PLSTIRE | ARALAR2|CITRIN|CTLN2|NICCD | ||||||||||
| Cytomap | 7q21.2 | 7q21.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | cyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIRE | electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrialARALAR-related gene 2calcium-binding mitochondrial carrier protein Aralar2citrullinemia type IImitochondrial aspartate glutamate carrier 2solute carrier family 25 (aspartate/glutamate | ||||||||||
| Modification date | 20240416 | 20240407 | ||||||||||
| UniProtAcc | Q00534 | Q9UJS0 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000265734, ENST00000424848, ENST00000491250, | ENST00000265631, ENST00000416240, ENST00000494085, ENST00000542654, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CDK6 [Title/Abstract] AND SLC25A13 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CDK6(92352483)-SLC25A13(95767055), # 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 | CDK6 | GO:0000082 | G1/S transition of mitotic cell cycle | 8114739 |
| Hgene | CDK6 | GO:0001954 | positive regulation of cell-matrix adhesion | 10205165 |
| Hgene | CDK6 | GO:0003323 | type B pancreatic cell development | 20668294 |
| Hgene | CDK6 | GO:0006468 | protein phosphorylation | 8114739 |
| Hgene | CDK6 | GO:0010468 | regulation of gene expression | 15254224 |
| Hgene | CDK6 | GO:0045638 | negative regulation of myeloid cell differentiation | 17431401 |
| Hgene | CDK6 | GO:0045656 | negative regulation of monocyte differentiation | 26542173 |
| Hgene | CDK6 | GO:0045668 | negative regulation of osteoblast differentiation | 15254224 |
| Hgene | CDK6 | GO:0045786 | negative regulation of cell cycle | 14985467 |
| Hgene | CDK6 | GO:2000773 | negative regulation of cellular senescence | 17420273 |
| Tgene | SLC25A13 | GO:0006754 | ATP biosynthetic process | 12851387 |
| Tgene | SLC25A13 | GO:0015810 | aspartate transmembrane transport | 11566871 |
| Tgene | SLC25A13 | GO:0015813 | L-glutamate transmembrane transport | 11566871 |
| Tgene | SLC25A13 | GO:0043490 | malate-aspartate shuttle | 11566871 |
| Tgene | SLC25A13 | GO:0045333 | cellular respiration | 12851387 |
| Tgene | SLC25A13 | GO:0051592 | response to calcium ion | 11566871 |
| Kinase Fusion gene breakpoints across CDK6 (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 SLC25A13 (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 | BI480726 | CDK6 | chr7 | 92352483 | SLC25A13 | chr7 | 95767055 |
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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/:92352483/:95767055) - 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 |
| CDK6 | SLC25A13 |
| FUNCTION: Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and negatively regulates cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663). {ECO:0000269|PubMed:12833137, ECO:0000269|PubMed:14985467, ECO:0000269|PubMed:15254224, ECO:0000269|PubMed:15809340, ECO:0000269|PubMed:17420273, ECO:0000269|PubMed:17431401, ECO:0000269|PubMed:20333249, ECO:0000269|PubMed:20668294, ECO:0000269|PubMed:23918663, ECO:0000269|PubMed:8114739}. | FUNCTION: Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871). Also mediates the uptake of L-cysteinesulfinate by mitochondria in exchange of L-glutamate and proton. Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871). {ECO:0000269|PubMed:11566871}. |
| 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 CDK6_SLC25A13 |
| 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 |
| CDK6 | Q00534 | human | RB1 | P06400 | S780 | strPPtLsPIPHIPr | Rb_C |
| CDK6 | Q00534 | human | TFEB | P19484 | S467 | KASsRRssFsMEEGD | DUF3371 |
| CDK6 | Q00534 | human | RBL2 | Q08999 | T401 | SKALRIStPLtGVRY | |
| CDK6 | Q00534 | human | TFEB | P19484 | T331 | RVHGLPttsPsGMNM | DUF3371 |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | T510 | EDSSQsPtPRPKKSy | |
| CDK6 | Q00534 | human | RUNX1 | Q01196-8 | S276 | DTRQIQPsPPWSYDQ | |
| CDK6 | Q00534 | human | RUNX1 | Q01196-8 | S48 | TPPSTALsPGKMSEA | |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | T611 | ETLPISstPSkSVLP | |
| CDK6 | Q00534 | human | TSC2 | P49815 | S1452 | LPSssPRsPsGLrPr | |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | S508 | sWEDSSQsPtPRPKK | |
| CDK6 | Q00534 | human | EGLN2 | Q96KS0 | S130 | EDGGDAPsPsKRPWA | |
| CDK6 | Q00534 | human | RUNX1 | Q01196-8 | T300 | sPSVHPAtPIsPGRA | |
| CDK6 | Q00534 | human | PKM | P14618-2 | S37 | MCRLDIDsPPITARN | |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | S522 | KSySGLRsPtRCVSE | |
| CDK6 | Q00534 | human | RB1 | P06400 | T826 | LPtPtkMtPRsRILV | Rb_C |
| CDK6 | Q00534 | human | RUNX1 | Q01196-8 | S424 | SMVGGERsPPRILPP | RunxI |
| CDK6 | Q00534 | human | RBL2 | Q08999 | S672 | tLyDRySsPPAsTtR | |
| CDK6 | Q00534 | human | RB1 | P06400 | S795 | sPykFPssPLrIPGG | Rb_C |
| CDK6 | Q00534 | human | CELF1 | Q92879 | S302 | TSSGSsPsSSSSNSV | |
| CDK6 | Q00534 | human | RB1 | P06400 | T252 | PINGsPRtPRRGQNR | |
| CDK6 | Q00534 | human | PFKFB3 | Q16875 | S467 | NsVtPLAsPEPtKKP | |
| CDK6 | Q00534 | human | RB1 | P06400 | S788 | PIPHIPrsPykFPss | Rb_C |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | T627 | tPEsWRLtPPAKVGG | |
| CDK6 | Q00534 | human | RB1 | P06400 | S249 | AVIPINGsPRtPRRG | |
| CDK6 | Q00534 | human | PFKFB3 | Q16875 | T463 | LMRRNsVtPLAsPEP | |
| CDK6 | Q00534 | human | RBL2 | Q08999 | S1035 | NMDAPPLsPyPFVRt | |
| CDK6 | Q00534 | human | NPM1 | P06748 | T199 | VkKsIrDtPAkNAQK | |
| CDK6 | Q00534 | human | RB1 | P06400 | S612 | MyLsPVRsPKKKGsT | |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | S704 | IDVPKPGsPEPQVSG | |
| CDK6 | Q00534 | human | TFEB | P19484 | S142 | AGNsAPNsPMAMLHI | MITF_TFEB_C_3_N |
| CDK6 | Q00534 | human | RUNX1 | Q01196-8 | S303 | VHPAtPIsPGRASGM | |
| CDK6 | Q00534 | human | CDKN1B | P46527 | T187 | NAGsVEQtPKKPGLR | |
| CDK6 | Q00534 | human | PKM | P14618 | S37 | MCRLDIDsPPItARN | |
| CDK6 | Q00534 | human | CDKN1A | P38936 | S130 | sGEQAEGsPGGPGDs | |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | S489 | PPLEEWPsPAPSFkE | |
| CDK6 | Q00534 | human | TFEB | P19484 | S114 | HIsPAQGsPkPPPAA | MITF_TFEB_C_3_N |
| CDK6 | Q00534 | human | TFE3 | P19532 | S246 | PTGSAPNsPMALLTI | MITF_TFEB_C_3_N |
| CDK6 | Q00534 | human | FLNA | P21333 | S2152 | tRRRRAPsVANVGsH | Filamin |
| CDK6 | Q00534 | human | ELAVL1 | Q15717 | S202 | LLsQLyHsPArrFGG | |
| CDK6 | Q00534 | human | RB1 | P06400 | T821 | kIsEGLPtPtkMtPR | Rb_C |
| CDK6 | Q00534 | human | RPRM | Q9NS64 | S98 | LVKDRRPsKEVEAVV | |
| CDK6 | Q00534 | human | CDKN1B | P46527 | S10 | NVRVSNGsPsLErMD | |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | T600 | EVGGPFKtPIkETLP | |
| CDK6 | Q00534 | human | TP53 | P04637 | R249 | CMGGMNRrPILTIIT | P53 |
| CDK6 | Q00534 | human | RB1 | P06400 | S807 | PGGNIyIsPLksPyk | Rb_C |
| CDK6 | Q00534 | human | FLNA | P21333 | S1459 | kCsGPGLsPGMVRAN | Filamin |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | T620 | SkSVLPRtPEsWRLt | |
| CDK6 | Q00534 | human | RUNX1 | Q01196-8 | S293 | QYLGSIAsPSVHPAt | |
| CDK6 | Q00534 | human | TSC2 | P49815 | S1217 | MSLENPLsPFSSDIN | |
| CDK6 | Q00534 | human | RB1 | P06400 | S811 | IyIsPLksPykIsEG | Rb_C |
| CDK6 | Q00534 | human | FOXM1 | Q08050 | S451 | LLFGEGFsPLLPVQT |
| 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 |
| CDK6 | ID | Description | 0.00e+00 |
| CDK6 | GO:0030330 | DNA damage respons | 6.21e-09 |
| CDK6 | GO:0051169 | nuclear transport | 3.85e-06 |
| CDK6 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 3.85e-06 |
| CDK6 | GO:1902807 | negative regulation of cell cycle G1/S phase transition | 5.10e-06 |
| CDK6 | GO:0051348 | negative regulation of transferase activity | 7.96e-06 |
| CDK6 | GO:0034504 | protein localization to nucleus | 4.18e-05 |
| CDK6 | GO:0006606 | protein import into nucleus | 4.18e-05 |
| CDK6 | GO:0010948 | negative regulation of cell cycle process | 4.18e-05 |
| CDK6 | GO:0051170 | import into nucleus | 4.18e-05 |
| CDK6 | GO:0072331 | signal transduction by p53 class mediator | 4.51e-05 |
| CDK6 | GO:0006469 | negative regulation of protein kinase activity | 4.51e-05 |
| CDK6 | GO:0006977 | DNA damage respons | 5.89e-07 |
| CDK6 | GO:0042772 | DNA damage respons | 6.99e-07 |
| CDK6 | GO:0033673 | negative regulation of kinase activity | 4.75e-05 |
| CDK6 | GO:1901991 | negative regulation of mitotic cell cycle phase transition | 4.75e-05 |
| CDK6 | GO:0045936 | negative regulation of phosphate metabolic process | 4.75e-05 |
| CDK6 | GO:0010563 | negative regulation of phosphorus metabolic process | 4.75e-05 |
| CDK6 | GO:1902806 | regulation of cell cycle G1/S phase transition | 5.93e-05 |
| CDK6 | GO:0045786 | negative regulation of cell cycle | 6.78e-05 |
| CDK6 | GO:0001558 | regulation of cell growth | 7.48e-05 |
| CDK6 | GO:0031571 | mitotic G1 DNA damage checkpoint signaling | 1.08e-04 |
| CDK6 | GO:0044819 | mitotic G1/S transition checkpoint signaling | 1.08e-04 |
| CDK6 | GO:1901987 | regulation of cell cycle phase transition | 1.08e-04 |
| CDK6 | GO:0045930 | negative regulation of mitotic cell cycle | 1.08e-04 |
| CDK6 | GO:0000082 | G1/S transition of mitotic cell cycle | 1.13e-04 |
| CDK6 | GO:0090398 | cellular senescence | 1.13e-04 |
| CDK6 | GO:0044772 | mitotic cell cycle phase transition | 1.16e-04 |
| CDK6 | GO:0043086 | negative regulation of catalytic activity | 1.27e-04 |
| CDK6 | GO:0016049 | cell growth | 1.50e-04 |
| CDK6 | GO:1901988 | negative regulation of cell cycle phase transition | 1.53e-04 |
| CDK6 | GO:0044843 | cell cycle G1/S phase transition | 1.54e-04 |
| CDK6 | GO:0001933 | negative regulation of protein phosphorylation | 2.27e-04 |
| CDK6 | GO:0042326 | negative regulation of phosphorylation | 3.14e-04 |
| CDK6 | GO:0044839 | cell cycle G2/M phase transition | 3.48e-04 |
| CDK6 | GO:1901990 | regulation of mitotic cell cycle phase transition | 4.44e-04 |
| CDK6 | GO:0009267 | cellular response to starvation | 5.82e-04 |
| CDK6 | GO:0030308 | negative regulation of cell growth | 7.03e-04 |
| CDK6 | GO:0031099 | regeneration | 7.15e-04 |
| CDK6 | GO:0031400 | negative regulation of protein modification process | 1.09e-03 |
| CDK6 | GO:0042594 | response to starvation | 1.13e-03 |
| CDK6 | GO:0042246 | tissue regeneration | 1.13e-03 |
| CDK6 | GO:0072594 | establishment of protein localization to organelle | 1.27e-03 |
| CDK6 | GO:0060965 | negative regulation of miRNA-mediated gene silencing | 1.27e-03 |
| CDK6 | GO:0071236 | cellular response to antibiotic | 1.27e-03 |
| CDK6 | GO:0044773 | mitotic DNA damage checkpoint signaling | 1.38e-03 |
| CDK6 | GO:0060149 | negative regulation of post-transcriptional gene silencing | 1.38e-03 |
| CDK6 | GO:0060967 | negative regulation of gene silencing by regulatory ncRNA | 1.38e-03 |
| CDK6 | GO:1900369 | negative regulation of post-transcriptional gene silencing by regulatory ncRNA | 1.38e-03 |
| CDK6 | GO:0044774 | mitotic DNA integrity checkpoint signaling | 1.49e-03 |
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Related Drugs to CDK6_SLC25A13 |
| 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 CDK6-SLC25A13 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 CDK6_SLC25A13 |
| 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 |
| Hgene | CDK6 | C0004238 | Atrial Fibrillation | 2 | CTD_human |
| Hgene | CDK6 | C0025149 | Medulloblastoma | 2 | CTD_human |
| Hgene | CDK6 | C0205833 | Medullomyoblastoma | 2 | CTD_human |
| Hgene | CDK6 | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human |
| Hgene | CDK6 | C0278510 | Childhood Medulloblastoma | 2 | CTD_human |
| Hgene | CDK6 | C0278876 | Adult Medulloblastoma | 2 | CTD_human |
| Hgene | CDK6 | C0751291 | Desmoplastic Medulloblastoma | 2 | CTD_human |
| Hgene | CDK6 | C1275668 | Melanotic medulloblastoma | 2 | CTD_human |
| Hgene | CDK6 | C2585653 | Persistent atrial fibrillation | 2 | CTD_human |
| Hgene | CDK6 | C3468561 | familial atrial fibrillation | 2 | CTD_human |
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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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