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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:SSH2-DYRK1A (FusionGDB2 ID:86774)

Fusion Gene Summary for SSH2-DYRK1A

check button Fusion gene summary
Fusion gene informationFusion gene name: SSH2-DYRK1A
Fusion gene ID: 86774
HgeneTgene
Gene symbol

SSH2

DYRK1A

Gene ID

85464

1859

Gene nameslingshot protein phosphatase 2dual specificity tyrosine phosphorylation regulated kinase 1A
SynonymsSSH-2|SSH-2LDYRK|DYRK1|HP86|MNB|MNBH|MRD7
Cytomap

17q11.2

21q22.13

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase Slingshot homolog 2SSH-like protein 2dual 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 homologs
Modification date2020031320200315
UniProtAcc.

Q13627

Ensembl transtripts involved in fusion geneENST00000269033, ENST00000540801, 
ENST00000324677, ENST00000579954, 
ENST00000582084, ENST00000590153, 
ENST00000321219, ENST00000338785, 
ENST00000339659, ENST00000398956, 
ENST00000398960, ENST00000451934, 
ENST00000455387, ENST00000462274, 
Fusion gene scores* DoF score39 X 23 X 10=897011 X 9 X 4=396
# samples 4811
** MAII scorelog2(48/8970*10)=-4.22400167419811
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SSH2 [Title/Abstract] AND DYRK1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSSH2(28022477)-DYRK1A(38877586), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneDYRK1A

GO:0018108

peptidyl-tyrosine phosphorylation

9748265

TgeneDYRK1A

GO:0033120

positive regulation of RNA splicing

28377597

TgeneDYRK1A

GO:0038083

peptidyl-tyrosine autophosphorylation

24327345


check buttonFusion gene breakpoints across SSH2 (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 DYRK1A (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
ChimerDB4STADTCGA-BR-8058-01ASSH2chr17

28022477

-DYRK1Achr21

38877586

+


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Fusion Gene ORF analysis for SSH2-DYRK1A

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-intronENST00000269033ENST00000321219SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000338785SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000339659SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000398956SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000398960SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000451934SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000455387SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000269033ENST00000462274SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000321219SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000338785SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000339659SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000398956SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000398960SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000451934SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000455387SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5CDS-intronENST00000540801ENST00000462274SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000321219SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000338785SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000339659SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000398956SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000398960SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000451934SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000455387SSH2chr17

28022477

-DYRK1Achr21

38877586

+
5UTR-intronENST00000324677ENST00000462274SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000321219SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000338785SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000339659SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000398956SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000398960SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000451934SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000455387SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000579954ENST00000462274SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000321219SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000338785SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000339659SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000398956SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000398960SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000451934SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000455387SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000582084ENST00000462274SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000321219SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000338785SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000339659SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000398956SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000398960SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000451934SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000455387SSH2chr17

28022477

-DYRK1Achr21

38877586

+
intron-intronENST00000590153ENST00000462274SSH2chr17

28022477

-DYRK1Achr21

38877586

+

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 SSH2-DYRK1A


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)
SSH2chr1728022476-DYRK1Achr2138877585+9.48E-091
SSH2chr1728022476-DYRK1Achr2138877585+9.48E-091

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 SSH2-DYRK1A


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/:28022477/:38877586)
- 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

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.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 SSH2-DYRK1A


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 SSH2-DYRK1A


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 SSH2-DYRK1A


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 SSH2-DYRK1A


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