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Fusion gene ID: 506

FusionGeneSummary for ACTA1_GAS7

Fusion gene summary

Fusion gene information	Fusion gene name: ACTA1_GAS7
	Fusion gene ID: 506
		Hgene	Tgene
	Gene symbol	ACTA1	GAS7
	Gene ID	58	8522
	Gene name	actin, alpha 1, skeletal muscle	growth arrest specific 7
	Synonyms	ACTA\|ASMA\|CFTD\|CFTD1\|CFTDM\|MPFD\|NEM1\|NEM2\|NEM3\|SHPM	-
	Cytomap	1q42.13	17p13.1
	Type of gene	protein-coding	protein-coding
	Description	actin, alpha skeletal musclenemaline myopathy type 3	growth arrest-specific protein 7
	Modification date	20180520	20180523
	UniProtAcc	P68133	O60861
	Ensembl transtripts involved in fusion gene	ENST00000366684, ENST00000366683,	ENST00000437099, ENST00000323816, ENST00000432992, ENST00000540214, ENST00000585266, ENST00000580865, ENST00000583882, ENST00000542249, ENST00000396115, ENST00000579158, ENST00000578655,
Fusion gene scores	* DoF score	3 X 3 X 1=9	6 X 7 X 3=126
	# samples	3	11
	** MAII score	log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(11/126*10)=-0.195920209975257 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ACTA1 [Title/Abstract] AND GAS7 [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

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			BG998390	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+

* 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	ENST00000366684	ENST00000437099	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000323816	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000432992	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000540214	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000585266	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000580865	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-intron	ENST00000366684	ENST00000583882	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000542249	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000396115	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366684	ENST00000579158	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-intron	ENST00000366684	ENST00000578655	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000437099	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000323816	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000432992	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000540214	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000585266	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000580865	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-intron	ENST00000366683	ENST00000583882	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000542249	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000396115	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-3UTR	ENST00000366683	ENST00000579158	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+
intron-intron	ENST00000366683	ENST00000578655	ACTA1	chr1	229567292	-	GAS7	chr17	9820514	+

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FusionProtFeatures for ACTA1_GAS7

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

Hgene	Tgene
ACTA1 P68133	GAS7 O60861

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Fusion gene ID: 506

FusionGeneSummary for ACTA1_GAS7

FusionProtFeatures for ACTA1_GAS7