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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:GBA-SCAMP3 (FusionGDB2 ID:32580)

Fusion Gene Summary for GBA-SCAMP3

Fusion gene summary

Fusion gene information	Fusion gene name: GBA-SCAMP3
	Fusion gene ID: 32580
		Hgene	Tgene
	Gene symbol	GBA	SCAMP3
	Gene ID	2629	10067
	Gene name	glucosylceramidase beta	secretory carrier membrane protein 3
	Synonyms	GBA1\|GCB\|GLUC	C1orf3
	Cytomap	1q22	1q22
	Type of gene	protein-coding	protein-coding
	Description	lysosomal acid glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseSGTaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidasecholesterol glucosyltransferasecholesteryl-beta-glucosidaseglucosidase, beta, acidglucosylceramidase-	secretory carrier-associated membrane protein 3propin 1
	Modification date	20200329	20200313
	UniProtAcc	P04062	.
	Ensembl transtripts involved in fusion gene	ENST00000368373, ENST00000327247, ENST00000427500, ENST00000536770, ENST00000428024, ENST00000493842,	ENST00000302631, ENST00000355379, ENST00000472397,
Fusion gene scores	* DoF score	5 X 9 X 5=225	8 X 16 X 4=512
	# samples	6	10
	** MAII score	log2(6/225*10)=-1.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/512*10)=-2.35614381022528 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GBA [Title/Abstract] AND SCAMP3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GBA(155214297)-SCAMP3(155228745), # samples:2
Anticipated loss of major functional domain due to fusion event.	GBA-SCAMP3 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. GBA-SCAMP3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. GBA-SCAMP3 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	GBA	GO:0006680	glucosylceramide catabolic process	9201993\|16293621\|24211208
Hgene	GBA	GO:0008203	cholesterol metabolic process	24211208\|26724485
Hgene	GBA	GO:0030259	lipid glycosylation	24211208\|26724485
Hgene	GBA	GO:0031333	negative regulation of protein complex assembly	26392287
Hgene	GBA	GO:0032715	negative regulation of interleukin-6 production	19279008
Hgene	GBA	GO:0043243	positive regulation of protein complex disassembly	26392287

Fusion gene breakpoints across GBA (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 SCAMP3 (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-B6-A0RU-01A	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
ChimerDB4	SARC	TCGA-3B-A9HS-01A	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
ChimerDB4	SARC	TCGA-3B-A9HS-01A	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
ChimerDB4	BRCA	TCGA-B6-A0RU-01A	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-

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Fusion Gene ORF analysis for GBA-SCAMP3

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-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-intron	ENST00000368373	ENST00000472397	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-intron	ENST00000327247	ENST00000472397	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-intron	ENST00000427500	ENST00000472397	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-intron	ENST00000536770	ENST00000472397	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-intron	ENST00000428024	ENST00000472397	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-intron	ENST00000493842	ENST00000472397	GBA	chr1	155214019	-	SCAMP3	chr1	155230375	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-intron	ENST00000368373	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-intron	ENST00000327247	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-intron	ENST00000427500	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-intron	ENST00000536770	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-intron	ENST00000428024	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
5UTR-intron	ENST00000493842	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230381	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-5UTR	ENST00000368373	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-5UTR	ENST00000327247	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-5UTR	ENST00000427500	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-5UTR	ENST00000536770	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-5UTR	ENST00000428024	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
5UTR-5UTR	ENST00000493842	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155228745	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000368373	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000327247	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000427500	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
intron-3CDS	ENST00000536770	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000428024	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
5UTR-3CDS	ENST00000493842	ENST00000472397	GBA	chr1	155214297	-	SCAMP3	chr1	155230241	-
Frame-shift	ENST00000368373	ENST00000302631	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000368373	ENST00000355379	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5CDS-5UTR	ENST00000368373	ENST00000472397	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000327247	ENST00000302631	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000327247	ENST00000355379	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5CDS-5UTR	ENST00000327247	ENST00000472397	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000427500	ENST00000302631	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000427500	ENST00000355379	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5CDS-5UTR	ENST00000427500	ENST00000472397	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000536770	ENST00000302631	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
Frame-shift	ENST00000536770	ENST00000355379	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5CDS-5UTR	ENST00000536770	ENST00000472397	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000428024	ENST00000472397	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
5UTR-5UTR	ENST00000493842	ENST00000472397	GBA	chr1	155210877	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000368373	ENST00000472397	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000327247	ENST00000472397	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000427500	ENST00000472397	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000536770	ENST00000472397	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000428024	ENST00000472397	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-5UTR	ENST00000493842	ENST00000472397	GBA	chr1	155188639	-	SCAMP3	chr1	155226210	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-5UTR	ENST00000368373	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-5UTR	ENST00000327247	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-5UTR	ENST00000427500	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-5UTR	ENST00000536770	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-5UTR	ENST00000428024	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
5UTR-5UTR	ENST00000493842	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155228744	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000368373	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000327247	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000427500	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000536770	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000428024	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
5UTR-3CDS	ENST00000493842	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230240	-
intron-3CDS	ENST00000368373	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-3CDS	ENST00000368373	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-intron	ENST00000368373	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-3CDS	ENST00000327247	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-3CDS	ENST00000327247	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-intron	ENST00000327247	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-3CDS	ENST00000427500	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-3CDS	ENST00000427500	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-intron	ENST00000427500	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-3CDS	ENST00000536770	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-3CDS	ENST00000536770	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
intron-intron	ENST00000536770	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-3CDS	ENST00000428024	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-3CDS	ENST00000428024	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-intron	ENST00000428024	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-3CDS	ENST00000493842	ENST00000302631	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-3CDS	ENST00000493842	ENST00000355379	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-
5UTR-intron	ENST00000493842	ENST00000472397	GBA	chr1	155214296	-	SCAMP3	chr1	155230380	-

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 GBA-SCAMP3

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 GBA-SCAMP3

Go to
FGviewer for the breakpoints of :-:
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
GBA P04062	.
FUNCTION: Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208, PubMed:15916907). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485). {ECO:0000269\|PubMed:15916907, ECO:0000269\|PubMed:19279011, ECO:0000269\|PubMed:24211208, ECO:0000269\|PubMed:26724485, ECO:0000269\|PubMed:27378698, ECO:0000269\|PubMed:9201993}.	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.

- 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 GBA-SCAMP3

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 GBA-SCAMP3

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 GBA-SCAMP3

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
Hgene	GBA	P04062	DB06720	Velaglucerase alfa		Biotech	Approved\|Investigational
Hgene	GBA	P04062	DB06720	Velaglucerase alfa		Biotech	Approved\|Investigational
Hgene	GBA	P04062	DB06720	Velaglucerase alfa		Biotech	Approved\|Investigational

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Related Diseases for GBA-SCAMP3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	GBA	C1961835	Gaucher Disease, Type 1	62	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	GBA	C0268250	Gaucher Disease, Type 2 (disorder)	21	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	GBA	C0268251	Gaucher Disease, Type 3 (disorder)	15	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	GBA	C0017205	Gaucher Disease	10	CTD_human;GENOMICS_ENGLAND
Hgene	GBA	C1842704	GAUCHER DISEASE, PERINATAL LETHAL	8	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	GBA	C1856476	Gaucher Disease, Type Iiic	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	GBA	C3160718	PARKINSON DISEASE, LATE-ONSET	3	CTD_human;GENOMICS_ENGLAND
Hgene	GBA	C0030567	Parkinson Disease	2	CTD_human
Hgene	GBA	C0020542	Pulmonary Hypertension	1	CTD_human
Hgene	GBA	C0036572	Seizures	1	GENOMICS_ENGLAND
Hgene	GBA	C0242422	Parkinsonian Disorders	1	CTD_human
Hgene	GBA	C0242423	Ramsay Hunt Paralysis Syndrome	1	CTD_human
Hgene	GBA	C0752097	Autosomal Dominant Juvenile Parkinson Disease	1	CTD_human
Hgene	GBA	C0752098	Autosomal Dominant Parkinsonism	1	CTD_human
Hgene	GBA	C0752100	Autosomal Recessive Parkinsonism	1	CTD_human
Hgene	GBA	C0752101	Parkinsonism, Experimental	1	CTD_human
Hgene	GBA	C0752104	Familial Juvenile Parkinsonism	1	CTD_human
Hgene	GBA	C0752105	Parkinsonism, Juvenile	1	CTD_human
Hgene	GBA	C0752347	Lewy Body Disease	1	CTD_human
Hgene	GBA	C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	1	CTD_human
Hgene	GBA	C2931585	Gaucher-like disease	1	ORPHANET