	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 15560

FusionGeneSummary for GSN_GALC

Fusion gene summary

Fusion gene information	Fusion gene name: GSN_GALC
	Fusion gene ID: 15560
		Hgene	Tgene
	Gene symbol	GSN	GALC
	Gene ID	2934	2581
	Gene name	gelsolin	galactosylceramidase
	Synonyms	ADF\|AGEL	-
	Cytomap	9q33.2	14q31.3
	Type of gene	protein-coding	protein-coding
	Description	gelsolinactin-depolymerizing factorbrevin	galactocerebrosidaseGALCERasegalactocerebroside beta-galactosidasegalactosylceramide beta-galactosidasegalactosylceraminidasetestis tissue sperm-binding protein Li 88Etestis tissue sperm-binding protein Li 89A
	Modification date	20180522	20180527
	UniProtAcc	P06396	P54803
	Ensembl transtripts involved in fusion gene	ENST00000373823, ENST00000373808, ENST00000436847, ENST00000449733, ENST00000412819, ENST00000394353, ENST00000341272, ENST00000545652, ENST00000373818, ENST00000485767, ENST00000373807, ENST00000373806,	ENST00000261304, ENST00000544807, ENST00000393569, ENST00000393568, ENST00000554916,
Fusion gene scores	* DoF score	15 X 11 X 7=1155	3 X 3 X 1=9
	# samples	19	3
	** MAII score	log2(19/1155*10)=-2.60382152797247 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: GSN [Title/Abstract] AND GALC [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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	GSN	GO:0030041	actin filament polymerization	3020431
Hgene	GSN	GO:0051014	actin filament severing	3020431

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BQ292312	GSN	chr9	124053530	+	GALC	chr14	88400470	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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
intron-3UTR	ENST00000373823	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373823	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373823	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373823	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373823	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000373808	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373808	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373808	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373808	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373808	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000436847	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000436847	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000436847	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000436847	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000436847	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000449733	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000449733	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000449733	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000449733	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000449733	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000412819	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000412819	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000412819	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000412819	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000412819	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000394353	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000394353	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000394353	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000394353	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000394353	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000341272	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000341272	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000341272	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000341272	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000341272	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000545652	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000545652	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000545652	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000545652	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000545652	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000373818	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373818	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373818	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373818	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373818	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000485767	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000485767	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000485767	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000485767	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000485767	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000373807	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373807	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373807	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373807	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373807	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-3UTR	ENST00000373806	ENST00000261304	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373806	ENST00000544807	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373806	ENST00000393569	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373806	ENST00000393568	GSN	chr9	124053530	+	GALC	chr14	88400470	+
intron-intron	ENST00000373806	ENST00000554916	GSN	chr9	124053530	+	GALC	chr14	88400470	+

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FusionProtFeatures for GSN_GALC

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

Hgene	Tgene
GSN P06396	GALC P54803
	Hydrolyzes the galactose ester bonds ofgalactosylceramide, galactosylsphingosine, lactosylceramide, andmonogalactosyldiglyceride. Enzyme with very low activityresponsible for the lysosomal catabolism of galactosylceramide, amajor lipid in myelin, kidney and epithelial cells of smallintestine and colon. {ECO:0000269\|PubMed:8281145,ECO:0000269\|PubMed:8399327}.

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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FusionGeneSequence for GSN_GALC

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for GSN_GALC

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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RelatedDrugs for GSN_GALC

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Hgene	GSN	P06396	DB01593	Zinc	Gelsolin	small molecule	approved\|investigational

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RelatedDiseases for GSN_GALC

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	GSN	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Hgene	GSN	C0025500	Mesothelioma	1	CTD_human
Hgene	GSN	C0029456	Osteoporosis	1	CTD_human
Hgene	GSN	C0030524	Paratuberculosis	1	CTD_human
Hgene	GSN	C0036341	Schizophrenia	1	PSYGENET
Hgene	GSN	C0043094	Weight Gain	1	CTD_human
Hgene	GSN	C0948089	Acute Coronary Syndrome	1	CTD_human
Hgene	GSN	C1622345	Meretoja syndrome	1	CTD_human;ORPHANET;UNIPROT
Hgene	GSN	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
Tgene	GALC	C0023521	Globoid cell leukodystrophy	10	CTD_human;UNIPROT
Tgene	GALC	C0023893	Liver Cirrhosis, Experimental	1	CTD_human

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Fusion gene ID: 15560

FusionGeneSummary for GSN_GALC

FusionProtFeatures for GSN_GALC

FusionGeneSequence for GSN_GALC

FusionGenePPI for GSN_GALC

RelatedDrugs for GSN_GALC

RelatedDiseases for GSN_GALC