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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 25030

FusionGeneSummary for NUAK1_UHRF1BP1L

check button Fusion gene summary
Fusion gene informationFusion gene name: NUAK1_UHRF1BP1L
Fusion gene ID: 25030
HgeneTgene
Gene symbol

NUAK1

UHRF1BP1L

Gene ID

9891

23074

Gene nameNUAK family kinase 1UHRF1 binding protein 1 like
SynonymsARK5SHIP164
Cytomap

12q23.3

12q23.1

Type of geneprotein-codingprotein-coding
DescriptionNUAK family SNF1-like kinase 1AMP-activated protein kinase family member 5AMPK-related protein kinase 5NUAK family, SNF1-like kinase, 1omphalocele kinase 1UHRF1-binding protein 1-likeUHRF1 (ICBP90) binding protein 1-likesyntaxin 6Habc-interacting protein of 164 kDasyntaxin-6 Habc-interacting protein of 164 kDa
Modification date2018052320180519
UniProtAcc

O60285

A0JNW5

Ensembl transtripts involved in fusion geneENST00000261402, ENST00000279907, 
ENST00000356828, ENST00000545232, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 3=48
# samples 34
** MAII scorelog2(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 annotationTumor 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNUAK1

GO:0006468

protein phosphorylation

25329316

HgeneNUAK1

GO:0030155

regulation of cell adhesion

20354225

HgeneNUAK1

GO:0035507

regulation of myosin-light-chain-phosphatase activity

20354225

HgeneNUAK1

GO:2000772

regulation of cellular senescence

19927127


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-DX-A48N-01ANUAK1chr12

106500183

-UHRF1BP1Lchr12

100433567

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000261402ENST00000279907NUAK1chr12

106500183

-UHRF1BP1Lchr12

100433567

-
5CDS-intronENST00000261402ENST00000356828NUAK1chr12

106500183

-UHRF1BP1Lchr12

100433567

-
5CDS-intronENST00000261402ENST00000545232NUAK1chr12

106500183

-UHRF1BP1Lchr12

100433567

-

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FusionProtFeatures for NUAK1_UHRF1BP1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NUAK1

O60285

UHRF1BP1L

A0JNW5

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}.

check buttonRetention 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

download page

.

* 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.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNUAK1chr12:106500183chr12:100433567ENST00000261402-2761_69120662Nucleotide bindingATP
TgeneUHRF1BP1Lchr12:106500183chr12:100433567ENST00000279907-18211418_145613601465Coiled coilOntology_term=ECO:0000255
TgeneUHRF1BP1Lchr12:106500183chr12:100433567ENST00000356828-0131418_1456-71523Coiled coilOntology_term=ECO:0000255
TgeneUHRF1BP1Lchr12:106500183chr12:100433567ENST00000545232-12151418_145610101115Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNUAK1chr12:106500183chr12:100433567ENST00000261402-2755_306120662DomainProtein kinase
HgeneNUAK1chr12:106500183chr12:100433567ENST00000261402-27399_402120662MotifNote=GILK motif


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FusionGeneSequence for NUAK1_UHRF1BP1L


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NUAK1IGHA2, PRPSAP1, KRT77, S100A8, PRKAR1A, S100A9, USP9X, PRKAA1, ELAVL1, APP, PPP1CC, LATS1, FBXO25, PPP1R12A, PPP1R12B, PPP1R12C, PPP1CB, SKP1, BTRC, FBXW11, CUL1, PLK1, SRRM2UHRF1BP1LATXN1, YWHAB, CT55, DOK3, FNTB, CDK2, YWHAZ, DYNLL1, CHD8, FERMT3, RAB8B, FAM174A, COBLL1, AMOTL1, IFFO1, CDADC1, SCML1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NUAK1_UHRF1BP1L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NUAK1_UHRF1BP1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUAK1C0027626Neoplasm Invasiveness2CTD_human
HgeneNUAK1C0026764Multiple Myeloma1CTD_human
TgeneUHRF1BP1LC3495559Juvenile arthritis1CTD_human