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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:GUK1-FADS2 (FusionGDB2 ID:35360)

Fusion Gene Summary for GUK1-FADS2

Fusion gene summary

Fusion gene information	Fusion gene name: GUK1-FADS2
	Fusion gene ID: 35360
		Hgene	Tgene
	Gene symbol	GUK1	FADS2
	Gene ID	2987	9415
	Gene name	guanylate kinase 1	fatty acid desaturase 2
	Synonyms	GMK	D6D\|DES6\|FADSD6\|LLCDL2\|SLL0262\|TU13
	Cytomap	1q42.13	11q12.2
	Type of gene	protein-coding	protein-coding
	Description	guanylate kinaseATP:GMP phosphotransferaseGMP kinase	acyl-CoA 6-desaturasedelta-6 fatty acid desaturasedelta-6-desaturaselinoleoyl-CoA desaturase (delta-6-desaturase)-like 2
	Modification date	20200320	20200313
	UniProtAcc	Q16774	O95864
	Ensembl transtripts involved in fusion gene	ENST00000470040, ENST00000312726, ENST00000366716, ENST00000366718, ENST00000366721, ENST00000366722, ENST00000366723, ENST00000366726, ENST00000366728, ENST00000366730, ENST00000391865,	ENST00000257261, ENST00000278840, ENST00000517839, ENST00000521849, ENST00000522056, ENST00000522639, ENST00000574708,
Fusion gene scores	* DoF score	14 X 13 X 6=1092	20 X 10 X 8=1600
	# samples	16	21
	** MAII score	log2(16/1092*10)=-2.77082904603249 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(21/1600*10)=-2.9296106721086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GUK1 [Title/Abstract] AND FADS2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GUK1(228333551)-FADS2(61634285), # 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)

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	GUK1	GO:0006163	purine nucleotide metabolic process	8663313
Hgene	GUK1	GO:0006805	xenobiotic metabolic process	6306664

Fusion gene breakpoints across GUK1 (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 FADS2 (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
ChiTaRS5.0	N/A	BG742639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+

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Fusion Gene ORF analysis for GUK1-FADS2

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
3UTR-3UTR	ENST00000470040	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
3UTR-3UTR	ENST00000470040	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
3UTR-intron	ENST00000470040	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
3UTR-intron	ENST00000470040	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
3UTR-intron	ENST00000470040	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
3UTR-intron	ENST00000470040	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
3UTR-intron	ENST00000470040	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000312726	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000312726	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366716	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366716	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366718	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366718	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366721	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366721	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366722	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366722	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366723	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366723	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366726	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366726	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366728	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366728	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366730	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000366730	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000391865	ENST00000257261	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-3UTR	ENST00000391865	ENST00000278840	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000312726	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000312726	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000312726	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000312726	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000312726	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366716	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366716	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366716	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366716	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366716	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366718	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366718	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366718	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366718	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366718	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366721	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366721	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366721	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366721	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366721	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366722	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366722	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366722	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366722	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366722	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366723	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366723	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366723	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366723	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366723	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366726	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366726	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366726	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366726	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366726	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366728	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366728	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366728	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366728	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366728	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366730	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366730	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366730	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366730	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000366730	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000391865	ENST00000517839	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000391865	ENST00000521849	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000391865	ENST00000522056	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000391865	ENST00000522639	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+
intron-intron	ENST00000391865	ENST00000574708	GUK1	chr1	228333551	+	FADS2	chr11	61634285	+

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 GUK1-FADS2

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)

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 GUK1-FADS2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:228333551/:61634285)
- 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
GUK1 Q16774	FADS2 O95864
FUNCTION: Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP) (PubMed:31201273). Involved in the cGMP metabolism in photoreceptors (By similarity). It may also have a role in the survival and growth progression of some tumors (PubMed:31201273). In addition to its physiological role, GUK1 is essential for convert prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine (PubMed:197968, PubMed:6248551, PubMed:6306664). {ECO:0000250\|UniProtKB:P46195, ECO:0000269\|PubMed:197968, ECO:0000269\|PubMed:31201273, ECO:0000269\|PubMed:6248551, ECO:0000269\|PubMed:6306664}.	FUNCTION: Involved in the biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors, acting as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (PubMed:12713571). Subsequently, in the biosynthetic pathway of HUFA n-3 series, it desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates hexadecanate (palmitate) to produce 6Z-hexadecenoate (sapienate), a fatty acid unique to humans and major component of human sebum, that has been implicated in the development of acne and may have potent antibacterial activity (PubMed:12713571). It can also desaturate (11E)-octadecenoate (trans-vaccenoate, the predominant trans fatty acid in human milk) at carbon 6 generating (6Z,11E)-octadecadienoate (By similarity). In addition to Delta-6 activity, this enzyme exhibits Delta-8 activity with slight biases toward n-3 fatty acyl-CoA substrates (By similarity). {ECO:0000250\|UniProtKB:B8R1K0, ECO:0000250\|UniProtKB:Q9Z122, ECO:0000269\|PubMed:12713571}.

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 GUK1-FADS2

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 GUK1-FADS2

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 GUK1-FADS2

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 GUK1-FADS2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source