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Fusion gene ID: 25030 |
FusionGeneSummary for NUAK1_UHRF1BP1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NUAK1_UHRF1BP1L | Fusion gene ID: 25030 | Hgene | Tgene | Gene symbol | NUAK1 | UHRF1BP1L | Gene ID | 9891 | 23074 |
| Gene name | NUAK family kinase 1 | UHRF1 binding protein 1 like | |
| Synonyms | ARK5 | SHIP164 | |
| Cytomap | 12q23.3 | 12q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NUAK family SNF1-like kinase 1AMP-activated protein kinase family member 5AMPK-related protein kinase 5NUAK family, SNF1-like kinase, 1omphalocele kinase 1 | UHRF1-binding protein 1-likeUHRF1 (ICBP90) binding protein 1-likesyntaxin 6Habc-interacting protein of 164 kDasyntaxin-6 Habc-interacting protein of 164 kDa | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O60285 | A0JNW5 | |
| Ensembl transtripts involved in fusion gene | ENST00000261402, | ENST00000279907, ENST00000356828, ENST00000545232, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 3=48 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NUAK1 [Title/Abstract] AND UHRF1BP1L [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 | NUAK1 | GO:0006468 | protein phosphorylation | 25329316 |
| Hgene | NUAK1 | GO:0030155 | regulation of cell adhesion | 20354225 |
| Hgene | NUAK1 | GO:0035507 | regulation of myosin-light-chain-phosphatase activity | 20354225 |
| Hgene | NUAK1 | GO:2000772 | regulation of cellular senescence | 19927127 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | SARC | TCGA-DX-A48N-01A | NUAK1 | chr12 | 106500183 | - | UHRF1BP1L | chr12 | 100433567 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000261402 | ENST00000279907 | NUAK1 | chr12 | 106500183 | - | UHRF1BP1L | chr12 | 100433567 | - |
| 5CDS-intron | ENST00000261402 | ENST00000356828 | NUAK1 | chr12 | 106500183 | - | UHRF1BP1L | chr12 | 100433567 | - |
| 5CDS-intron | ENST00000261402 | ENST00000545232 | NUAK1 | chr12 | 106500183 | - | UHRF1BP1L | chr12 | 100433567 | - |
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FusionProtFeatures for NUAK1_UHRF1BP1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NUAK1 | UHRF1BP1L |
| Serine/threonine-protein kinase involved in variousprocesses such as cell adhesion, regulation of cell ploidy andsenescence, cell proliferation and tumor progression.Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as aregulator of cellular senescence and cellular ploidy by mediatingphosphorylation of 'Ser-464' of LATS1, thereby controlling itsstability. Controls cell adhesion by regulating activity of themyosin protein phosphatase 1 (PP1) complex. Acts by mediatingphosphorylation of PPP1R12A subunit of myosin PP1: phosphorylatedPPP1R12A then interacts with 14-3-3, leading to reduceddephosphorylation of myosin MLC2 by myosin PP1. May be involved inDNA damage response: phosphorylates p53/TP53 at 'Ser-15' and 'Ser-392' and is recruited to the CDKN1A/WAF1 promoter to participateto transcription activation by p53/TP53. May also act as a tumormalignancy-associated factor by promoting tumor invasion andmetastasis under regulation and phosphorylation by AKT1.Suppresses Fas-induced apoptosis by mediating phosphorylation ofCASP6, thereby suppressing the activation of the caspase and thesubsequent cleavage of CFLAR. Regulates UV radiation-induced DNAdamage response mediated by CDKN1A. In association with STK11,phosphorylates CDKN1A in response to UV radiation and contributesto its degradation which is necessary for optimal DNA repair(PubMed:25329316). {ECO:0000269|PubMed:12409306,ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:15060171,ECO:0000269|PubMed:15273717, ECO:0000269|PubMed:19927127,ECO:0000269|PubMed:20354225, ECO:0000269|PubMed:21317932,ECO:0000269|PubMed:25329316}. |
| 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | NUAK1 | chr12:106500183 | chr12:100433567 | ENST00000261402 | - | 2 | 7 | 61_69 | 120 | 662 | Nucleotide binding | ATP |
| Tgene | >UHRF1BP1L | chr12:106500183 | chr12:100433567 | ENST00000279907 | - | 18 | 21 | 1418_1456 | 1360 | 1465 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >UHRF1BP1L | chr12:106500183 | chr12:100433567 | ENST00000356828 | - | 0 | 13 | 1418_1456 | -71 | 523 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >UHRF1BP1L | chr12:106500183 | chr12:100433567 | ENST00000545232 | - | 12 | 15 | 1418_1456 | 1010 | 1115 | Coiled coil | Ontology_term=ECO:0000255 |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >NUAK1 | chr12:106500183 | chr12:100433567 | ENST00000261402 | - | 2 | 7 | 55_306 | 120 | 662 | Domain | Protein kinase |
| Hgene | >NUAK1 | chr12:106500183 | chr12:100433567 | ENST00000261402 | - | 2 | 7 | 399_402 | 120 | 662 | Motif | Note=GILK motif |
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FusionGeneSequence for NUAK1_UHRF1BP1L |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_NUAK1_ENST00000261402_chr12_106500183_-_UHRF1BP1L_ENST00000279907_chr12_100433567_-_225aa MEGAAAPVAGDRPDLGLGAPGSPREAVAGATAALEPRKPHGVKRHHHKHNLKHRYELQETLGKGTYGKVKRATERFSGRVVAIKSIRKDK IKDEQDMVHIRREIEIMSSLNHPHIISIYEDSHMLNTGNDLKENVKSDSVLLTSGKYDLKKQRSVTQATQTSPGVPWPSQSANFPEFSFD |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_NUAK1_ENST00000261402_chr12_106500183_-_UHRF1BP1L_ENST00000279907_chr12_100433567_-_675nt ATGGAAGGGGCCGCCGCGCCTGTGGCGGGGGACCGCCCCGACTTGGGGCTGGGGGCGCCGGGCTCTCCCCGAGAGGCGGTGGCGGGGGCG ACTGCAGCCCTGGAGCCCAGGAAGCCGCACGGGGTGAAGCGGCATCACCACAAGCACAACTTGAAGCACCGCTACGAGCTGCAGGAGACC CTGGGCAAAGGCACCTACGGCAAAGTCAAGCGGGCCACCGAGAGGTTTTCTGGCCGAGTGGTTGCTATAAAATCCATTCGTAAGGACAAA ATTAAGGATGAACAAGACATGGTTCACATCAGACGAGAGATTGAGATCATGTCATCTCTCAACCATCCTCATATCATCAGTATTTATGAA GATTCTCACATGCTTAACACTGGAAATGATTTGAAAGAAAATGTCAAAAGCGATTCAGTGCTGCTGACCAGTGGAAAGTATGATCTGAAG AAACAACGCAGTGTCACGCAAGCCACTCAGACAAGCCCAGGGGTTCCTTGGCCTTCTCAGTCAGCTAACTTTCCTGAGTTCTCCTTTGAC TTCACTAGGGAACAGCTCATGGAAGAGAATGAATCTCTTAAACAGGAACTGGCTAAAGCTAAAATGGCTCTTGCAGAGGCTCACTTGGAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_NUAK1_ENST00000261402_chr12_106500183_-_UHRF1BP1L_ENST00000279907_chr12_100433567_-_2615nt AATCTCCCAAGGCCTAAGGAGGCAAGAGGCCTGCAAATCGCCTCCTGCTCAGCAAACGGGTTGCTCAGCAGGCCCGGGGTCCTGGTCCAC CCCAGGTCCCTGGTTTGCCCACCTCCGATGGCGGCCTTCGCTGGCAGGGTGGGCGCCTCTGGGGAGCCAGCTCCGTCCCGGCGCCTTTAG AGCCCCATCTCTTCCACGTCCCTGGCCTTCCTCCCCTTCCAGGCGGCTGTCCCCGCCGGGGTCCAGATGGTGTCGGAGGGCCGGCGGTTC GACGGCGGGCCCGGGGTTCAGCCTCCCGGCCTCCCTCCGTCCCTGACTCTCCTTTCTTCGGAGAGGGCGCGGGGGCCGGGGCCAAAGCGC CGCTCTTGGGGTTCTCCTGGACTCGGAGTTGCCCCAGGCGGGCGCAGCTCTGCCCCGCGGGGTGCCAGCCTCGGGCGGGCAAGGTCCGTG AGTCACCGCCTGTAACCGAACACCAGGCCTCCCTGCCCCCTCCCCCAGCTCCGGCCGCCAGGCTGCGGCGACACCTACAAGAAAATGAAG GGGCGCCCAGGCCCGCGGCGGCCCCGGCCGTATCGCGAGCAGGTCCCGGCGGCCCCCGGCTCGCGGCGCTCTTTCTTCCCCGGCCCCGGG GCTCGGCCAGCCGCAACCGCCGCCCCGGCGCCAGCAGGAATCCAGGCCGAGCGACCGGCCCCGGAGCCCGAGGCGGCGGAGGGCCCGCGG TAGCTGCGACTGGCGAGCCCGAGAGCGCCCGGGGAGGGGGCGCCCGGCTTGGAATTTCCCGGTCCCTTCCGGCCCAGCGAGGACAAAGCA CTCCTGGCCGCCGCCGCCGCCGCCGCCGTGGCCTACGCCGCGCCGCACAAAGGGCGAGTCGCGACACGCTCCCATCCCCCTCCCAGCTCA CGGCGGCCCCGGCCCCGGGTGGCTGCAGGGAGGTGGGGGAAGCCCTGGCTGCACCGCCCCTCGCTCCCCCTCCCCTGGGGCCGCGCGAGC GCCGCCCCCGCCCCGTCTGCGCGTCCTCCCGGGGAGGGGTTGGGGGGCGCGGCGCCCCACATAACACTCCCCCTCCTGCGCTGCGAGCCA CCCTCTCCCCTCCCTCCTGCAAACACCACCGCCTCCCCTGCCACCGCCGCCACCTCGCCCGACGCTCCACAGCTCGCCGCGGCCGGGGGG CGGTGCGCGGACCGTGCGCGCCGCGGGCGCCAGATGTGCAGTCCCCGCCGCCGCCAGTGACCGAGCCGCAGTCCGAGCGGTATCGGGCCG CCTCCCTGATGCTGCGGGGGCGACCTTGAGCGTACAGCGGCTTCCCTCGGTGGGGACCCCGACATCCCAGCGCTGTGCCCGGTCTTGCCC TCTGTAGCCCGGCTCGCCCCGCGCTTGGACATGGAAGGGGCCGCCGCGCCTGTGGCGGGGGACCGCCCCGACTTGGGGCTGGGGGCGCCG GGCTCTCCCCGAGAGGCGGTGGCGGGGGCGACTGCAGCCCTGGAGCCCAGGAAGCCGCACGGGGTGAAGCGGCATCACCACAAGCACAAC TTGAAGCACCGCTACGAGCTGCAGGAGACCCTGGGCAAAGGCACCTACGGCAAAGTCAAGCGGGCCACCGAGAGGTTTTCTGGCCGAGTG GTTGCTATAAAATCCATTCGTAAGGACAAAATTAAGGATGAACAAGACATGGTTCACATCAGACGAGAGATTGAGATCATGTCATCTCTC AACCATCCTCATATCATCAGTATTTATGAAGATTCTCACATGCTTAACACTGGAAATGATTTGAAAGAAAATGTCAAAAGCGATTCAGTG CTGCTGACCAGTGGAAAGTATGATCTGAAGAAACAACGCAGTGTCACGCAAGCCACTCAGACAAGCCCAGGGGTTCCTTGGCCTTCTCAG TCAGCTAACTTTCCTGAGTTCTCCTTTGACTTCACTAGGGAACAGCTCATGGAAGAGAATGAATCTCTTAAACAGGAACTGGCTAAAGCT AAAATGGCTCTTGCAGAGGCTCACTTGGAAAAAGATGCTCTTCTTCATCATATAAAGAAGATGACAGTTGAATAGCAGGAGTGGCAGTCA AAACTGAAATTATAGCTCTGGAGTAGGAAGGTTATATTTATAATGTGGATGTTACCAGTTAGGGGAAGACTTTTATTTTCATGAAAAGAC AATAAAACAAAATGGAATGTGATGAAGTGGTGACTATTTCAAAGCCAGTTTAGAAAGTATTAGTACGGGCATTACAATCTTTTGGTTGTT TTGTGTTTTGGGGCTTAACCCTCTTTTAAGCTGTTGTGATCTAGGGAAGTCAACACATAGTGTAAAATAATTACATGCCTAATGAAAAGA AGATGTCATTTCCTAATTTTGATATCTCATTTTCGGCATTTTTTAAAATGTAAAAGGAAAACCTCTTGTGTTCACACAGATTGCTGAATT GATTTCTCCATATTTGTTAATAATTTACTATTATTTACAAAGATTCAAATGCTTTTATGACTAATGTAAAATGAAAAGAGGCTTACATTT TAAATGTTATTAAAATTATGTACTTAAATCTATAATTATTTAATTATTGTAAAAAGTCCAAGCAGATCAATAAACTATATAATTAATGGG |
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FusionGenePPI for NUAK1_UHRF1BP1L |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| NUAK1 | IGHA2, PRPSAP1, KRT77, S100A8, PRKAR1A, S100A9, USP9X, PRKAA1, ELAVL1, APP, PPP1CC, LATS1, FBXO25, PPP1R12A, PPP1R12B, PPP1R12C, PPP1CB, SKP1, BTRC, FBXW11, CUL1, PLK1, SRRM2 | UHRF1BP1L | ATXN1, YWHAB, CT55, DOK3, FNTB, CDK2, YWHAZ, DYNLL1, CHD8, FERMT3, RAB8B, FAM174A, COBLL1, AMOTL1, IFFO1, CDADC1, SCML1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NUAK1_UHRF1BP1L |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NUAK1_UHRF1BP1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NUAK1 | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Hgene | NUAK1 | C0026764 | Multiple Myeloma | 1 | CTD_human |
| Tgene | UHRF1BP1L | C3495559 | Juvenile arthritis | 1 | CTD_human |
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