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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:GUK1-SMARCC1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: GUK1-SMARCC1
	FusionPDB ID: 35367
	FusionGDB2.0 ID: 35367
		Hgene	Tgene
	Gene symbol	GUK1	SMARCC1
	Gene ID	2987	6599
	Gene name	guanylate kinase 1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
	Synonyms	GMK	BAF155\|CRACC1\|Rsc8\|SRG3\|SWI3
	Cytomap	1q42.13	3p21.31
	Type of gene	protein-coding	protein-coding
	Description	guanylate kinaseATP:GMP phosphotransferaseGMP kinase	SWI/SNF complex subunit SMARCC1BRG1-associated factor 155SWI/SNF complex 155 kDa subunitSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1chromatin remodeling complex BAF155 subunitmammalian chromatin remode
	Modification date	20200320	20200313
	UniProtAcc	Q16774	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000470040, ENST00000312726, ENST00000366716, ENST00000366718, ENST00000366721, ENST00000366722, ENST00000366723, ENST00000366726, ENST00000366730, ENST00000391865, ENST00000366728,	ENST00000254480, ENST00000425518,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	14 X 13 X 6=1092	18 X 18 X 8=2592
	# samples	16	24
	** MAII score	log2(16/1092*10)=-2.77082904603249 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(24/2592*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: GUK1 [Title/Abstract] AND SMARCC1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	GUK1(228336090)-SMARCC1(47651631), # samples:1
Anticipated loss of major functional domain due to fusion event.	GUK1-SMARCC1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. GUK1-SMARCC1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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	GUK1	GO:0006163	purine nucleotide metabolic process	8663313
Hgene	GUK1	GO:0006805	xenobiotic metabolic process	6306664
Tgene	SMARCC1	GO:0006337	nucleosome disassembly	8895581
Tgene	SMARCC1	GO:0006338	chromatin remodeling	10078207\|11018012\|11726552
Tgene	SMARCC1	GO:0045893	positive regulation of transcription, DNA-templated	11018012

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 SMARCC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	BI051269	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000366730	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	4030	742	200	724	174
ENST00000391865	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	3968	680	36	662	208
ENST00000366726	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	3926	638	42	620	192
ENST00000312726	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	4071	783	205	765	186
ENST00000366721	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	3870	582	10	564	184
ENST00000366718	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	4257	969	394	951	185
ENST00000366716	GUK1	chr1	228336090	-	ENST00000254480	SMARCC1	chr3	47651631	-	3889	601	59	583	174

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
ENST00000366730	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.004498625	0.99550134
ENST00000391865	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.005447249	0.9945528
ENST00000366726	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.004624751	0.9953753
ENST00000312726	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.004796812	0.99520314
ENST00000366721	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.00673376	0.9932662
ENST00000366718	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.005841658	0.9941584
ENST00000366716	ENST00000254480	GUK1	chr1	228336090	-	SMARCC1	chr3	47651631	-	0.004609804	0.9953902

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>35367_35367_1_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000312726_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=186AA_BP=
MWLWKSPISSGGMSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAEFSG
NLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESMMWSSLTTAW

--------------------------------------------------------------

>35367_35367_2_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000366716_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=174AA_BP=
MSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAEFSGNLYGTSKVAVQA

--------------------------------------------------------------

>35367_35367_3_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000366718_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=185AA_BP=
MTTEAAPQQTGMSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAEFSGN
LYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESMMWSSLTTAWT

--------------------------------------------------------------

>35367_35367_4_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000366721_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=184AA_BP=
MGRAPPDGMSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSRESRALVEGYHEEPEARRGERQREVMQRDIAAGDFIEHAEFSGNL
YGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESMMWSSLTTAWTR

--------------------------------------------------------------

>35367_35367_5_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000366726_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=192AA_BP=
MRPPWAGPHRTPLFSPPGMSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIE
HAEFSGNLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESMMWS

--------------------------------------------------------------

>35367_35367_6_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000366730_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=174AA_BP=
MSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAEFSGNLYGTSKVAVQA

--------------------------------------------------------------

>35367_35367_7_GUK1-SMARCC1_GUK1_chr1_228336090_ENST00000391865_SMARCC1_chr3_47651631_ENST00000254480_length(amino acids)=208AA_BP=
MSRRFSGRKRWPRMLRRPLAGLAAAALGRAPPDGMSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFV
TREVMQRDIAAGDFIEHAEFSGNLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLV

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:228336090/chr3:47651631)
- 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	.
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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

914_946

1106.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

329_336

1106.0

Compositional bias

Note=Poly-Pro

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

769_863

1106.0

Compositional bias

Note=Glu-rich

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

867_878

1106.0

Compositional bias

Note=Poly-Ala

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

977_1105

1106.0

Compositional bias

Note=Pro-rich

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

449_546

1106.0

Domain

SWIRM

Tgene

SMARCC1

chr1:228336090

chr3:47651631

ENST00000254480

618_669

1106.0

Domain

SANT

- 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

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000312726

4_186

198.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366716

4_186

198.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366718

4_186

198.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366726

4_186

198.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366728

4_186

242.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366730

4_186

198.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000391865

4_186

219.0

Domain

Guanylate kinase-like

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000312726

14_19

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000312726

171_172

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000312726

37_51

198.0

Nucleotide binding

Substrate binding

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366716

14_19

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366716

171_172

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366716

37_51

198.0

Nucleotide binding

Substrate binding

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366718

14_19

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366718

171_172

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366718

37_51

198.0

Nucleotide binding

Substrate binding

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366726

14_19

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366726

171_172

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366726

37_51

198.0

Nucleotide binding

Substrate binding

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366728

14_19

242.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366728

171_172

242.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366728

37_51

242.0

Nucleotide binding

Substrate binding

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366730

14_19

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366730

171_172

198.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000366730

37_51

198.0

Nucleotide binding

Substrate binding

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000391865

14_19

219.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000391865

171_172

219.0

Nucleotide binding

ATP

Hgene

GUK1

chr1:228336090

chr3:47651631

ENST00000391865

37_51

219.0

Nucleotide binding

Substrate binding

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
GUK1
SMARCC1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to GUK1-SMARCC1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to GUK1-SMARCC1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source