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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DYRK1A-HUNK (FusionGDB2 ID:24695)

Fusion Gene Summary for DYRK1A-HUNK

check button Fusion gene summary
Fusion gene informationFusion gene name: DYRK1A-HUNK
Fusion gene ID: 24695
HgeneTgene
Gene symbol

DYRK1A

HUNK

Gene ID

1859

30811

Gene namedual specificity tyrosine phosphorylation regulated kinase 1Ahormonally up-regulated Neu-associated kinase
SynonymsDYRK|DYRK1|HP86|MNB|MNBH|MRD7-
Cytomap

21q22.13

21q22.11

Type of geneprotein-codingprotein-coding
Descriptiondual specificity tyrosine-phosphorylation-regulated kinase 1AMNB/DYRK protein kinasedual specificity YAK1-related kinasedual specificity tyrosine-(Y)-phosphorylation regulated kinase 1Amnb protein kinase homolog hp86protein kinase minibrain homologshormonally up-regulated neu tumor-associated kinaseB19hormonally upregulated Neu-associated kinasehormonally upregulated neu tumor-associated kinaseserine/threonine protein kinase MAK-V
Modification date2020031520200313
UniProtAcc

Q13627

P57058

Ensembl transtripts involved in fusion geneENST00000321219, ENST00000338785, 
ENST00000339659, ENST00000398956, 
ENST00000398960, ENST00000451934, 
ENST00000455387, ENST00000462274, 
ENST00000465574, ENST00000270112, 
Fusion gene scores* DoF score32 X 23 X 11=80969 X 9 X 5=405
# samples 409
** MAII scorelog2(40/8096*10)=-4.33913738491959
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DYRK1A [Title/Abstract] AND HUNK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDYRK1A(38792686)-HUNK(33296780), # samples:3
Anticipated loss of major functional domain due to fusion event.DYRK1A-HUNK seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
DYRK1A-HUNK seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
DYRK1A-HUNK seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
DYRK1A-HUNK seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
DYRK1A-HUNK seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
* 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
HgeneDYRK1A

GO:0018108

peptidyl-tyrosine phosphorylation

9748265

HgeneDYRK1A

GO:0033120

positive regulation of RNA splicing

28377597

HgeneDYRK1A

GO:0038083

peptidyl-tyrosine autophosphorylation

24327345


check buttonFusion gene breakpoints across DYRK1A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HUNK (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRPTCGA-B9-A5W9-01ADYRK1Achr21

38792686

-HUNKchr21

33296780

+
ChimerDB4KIRPTCGA-B9-A5W9-01ADYRK1Achr21

38792686

+HUNKchr21

33296780

+
ChimerDB4KIRPTCGA-B9-A5W9DYRK1Achr21

38792686

+HUNKchr21

33296780

+


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Fusion Gene ORF analysis for DYRK1A-HUNK

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
5CDS-intronENST00000321219ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
5CDS-intronENST00000338785ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
5CDS-intronENST00000339659ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
5CDS-intronENST00000398956ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
5CDS-intronENST00000398960ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
5CDS-intronENST00000451934ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
Frame-shiftENST00000321219ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
Frame-shiftENST00000338785ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
Frame-shiftENST00000339659ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
Frame-shiftENST00000398956ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
Frame-shiftENST00000398960ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
Frame-shiftENST00000451934ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
intron-3CDSENST00000455387ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
intron-3CDSENST00000462274ENST00000270112DYRK1Achr21

38792686

+HUNKchr21

33296780

+
intron-intronENST00000455387ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+
intron-intronENST00000462274ENST00000465574DYRK1Achr21

38792686

+HUNKchr21

33296780

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DYRK1A-HUNK


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
DYRK1Achr2138792686+HUNKchr2133296779+6.15E-121
DYRK1Achr2138792686+HUNKchr2133296779+6.15E-121
DYRK1Achr2138792686+HUNKchr2133296779+6.15E-121
DYRK1Achr2138792686+HUNKchr2133296779+6.15E-121

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for DYRK1A-HUNK


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:38792686/:33296780)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DYRK1A

Q13627

HUNK

P57058

FUNCTION: Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity). {ECO:0000250|UniProtKB:Q61214, ECO:0000250|UniProtKB:Q9NR20, ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:21127067, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:8769099}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DYRK1A-HUNK


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DYRK1A-HUNK


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


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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Related Drugs for DYRK1A-HUNK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DYRK1A-HUNK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource