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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:DSTYK-NAV1 (FusionGDB2 ID:24331)

Fusion Gene Summary for DSTYK-NAV1

Fusion gene summary

Fusion gene information	Fusion gene name: DSTYK-NAV1
	Fusion gene ID: 24331
		Hgene	Tgene
	Gene symbol	DSTYK	NAV1
	Gene ID	25778	89796
	Gene name	dual serine/threonine and tyrosine protein kinase	neuron navigator 1
	Synonyms	CAKUT1\|DustyPK\|HDCMD38P\|RIP5\|RIPK5\|SPG23	POMFIL3\|STEERIN1\|UNC53H1
	Cytomap	1q32.1	1q32.1
	Type of gene	protein-coding	protein-coding
	Description	dual serine/threonine and tyrosine protein kinaseRIP-homologous kinasedusty PKdusty protein kinasereceptor-interacting serine/threonine-protein kinase 5sgK496spastic paraplegia 23 (autosomal recessive)sugen kinase 496	neuron navigator 1pore membrane and/or filament interacting like protein 3unc-53 homolog 1
	Modification date	20200313	20200313
	UniProtAcc	Q6XUX3	Q8NEY1
	Ensembl transtripts involved in fusion gene	ENST00000367160, ENST00000367161, ENST00000367162,	ENST00000469130, ENST00000295624, ENST00000367295, ENST00000367296, ENST00000367297, ENST00000367300, ENST00000367302,
Fusion gene scores	* DoF score	8 X 5 X 7=280	10 X 10 X 4=400
	# samples	11	12
	** MAII score	log2(11/280*10)=-1.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(12/400*10)=-1.73696559416621 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: DSTYK [Title/Abstract] AND NAV1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	DSTYK(205180399)-NAV1(201749549), # samples:2
Anticipated loss of major functional domain due to fusion event.	DSTYK-NAV1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. DSTYK-NAV1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. DSTYK-NAV1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

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	DSTYK	GO:0044344	cellular response to fibroblast growth factor stimulus	23862974

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

Fusion gene breakpoints across NAV1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-AR-A24Z-01A	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
ChimerDB4	BRCA	TCGA-AR-A24Z	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+

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Fusion Gene ORF analysis for DSTYK-NAV1

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
5CDS-intron	ENST00000367160	ENST00000469130	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
5CDS-intron	ENST00000367160	ENST00000469130	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
5CDS-intron	ENST00000367161	ENST00000469130	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
5CDS-intron	ENST00000367161	ENST00000469130	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
5CDS-intron	ENST00000367162	ENST00000469130	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
5CDS-intron	ENST00000367162	ENST00000469130	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367160	ENST00000295624	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367160	ENST00000295624	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367160	ENST00000367295	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367160	ENST00000367295	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367160	ENST00000367296	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367160	ENST00000367296	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367160	ENST00000367297	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367160	ENST00000367297	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367160	ENST00000367300	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367160	ENST00000367300	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367160	ENST00000367302	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367160	ENST00000367302	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367161	ENST00000295624	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367161	ENST00000295624	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367161	ENST00000367295	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367161	ENST00000367295	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367161	ENST00000367296	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367161	ENST00000367296	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367161	ENST00000367297	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367161	ENST00000367297	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367161	ENST00000367300	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367161	ENST00000367300	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367161	ENST00000367302	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367161	ENST00000367302	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367162	ENST00000295624	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367162	ENST00000295624	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367162	ENST00000367295	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367162	ENST00000367295	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367162	ENST00000367296	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367162	ENST00000367296	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367162	ENST00000367297	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367162	ENST00000367297	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367162	ENST00000367300	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367162	ENST00000367300	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+
Frame-shift	ENST00000367162	ENST00000367302	DSTYK	chr1	205180399	-	NAV1	chr1	201749549	+
Frame-shift	ENST00000367162	ENST00000367302	DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for DSTYK-NAV1

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+	2.32E-09	1
DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+	2.32E-09	1
DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+	2.32E-09	1
DSTYK	chr1	205180398	-	NAV1	chr1	201749548	+	2.32E-09	1

Distribution 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.

Distribution 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.

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Fusion Protein Features for DSTYK-NAV1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:205180399/:201749549)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
DSTYK Q6XUX3	NAV1 Q8NEY1
FUNCTION: Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406). In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540). {ECO:0000269\|PubMed:15178406, ECO:0000269\|PubMed:23862974, ECO:0000269\|PubMed:28157540}.	FUNCTION: May be involved in neuronal migration. {ECO:0000250}.

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
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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- 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

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Fusion Gene Sequence for DSTYK-NAV1

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 DSTYK-NAV1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- 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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Related Drugs for DSTYK-NAV1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for DSTYK-NAV1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source