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Fusion gene ID: 25030 |
FusionGeneSummary for NUAK1_UHRF1BP1L |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NUAK1_UHRF1BP1L |
![]() (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 |
![]() (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 |