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Fusion gene ID: 5452

FusionGeneSummary for CAPN1_GTF2IRD1

Fusion gene summary

Fusion gene information	Fusion gene name: CAPN1_GTF2IRD1
	Fusion gene ID: 5452
		Hgene	Tgene
	Gene symbol	CAPN1	GTF2IRD1
	Gene ID	823	9569
	Gene name	calpain 1	GTF2I repeat domain containing 1
	Synonyms	CANP\|CANP1\|CANPL1\|SPG76\|muCANP\|muCL	BEN\|CREAM1\|GTF3\|MUSTRD1\|RBAP2\|WBS\|WBSCR11\|WBSCR12\|hMusTRD1alpha1
	Cytomap	11q13.1	7q11.23
	Type of gene	protein-coding	protein-coding
	Description	calpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing protein	general transcription factor II-I repeat domain-containing protein 1USE B1-binding proteinWilliams-Beuren syndrome chromosome region 11binding factor for early enhancergeneral transcription factor 3general transcription factor IIImuscle TFII-I repea
	Modification date	20180523	20180522
	UniProtAcc	P07384	Q9UHL9
	Ensembl transtripts involved in fusion gene	ENST00000533820, ENST00000533129, ENST00000524773, ENST00000279247, ENST00000527469, ENST00000527323,	ENST00000265755, ENST00000455841, ENST00000424337, ENST00000476977, ENST00000489094,
Fusion gene scores	* DoF score	7 X 7 X 6=294	4 X 4 X 5=80
	# samples	7	5
	** MAII score	log2(7/294*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CAPN1 [Title/Abstract] AND GTF2IRD1 [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	CAPN1	GO:0006508	proteolysis	2400579\|2407243\|16411745\|21531719
Hgene	CAPN1	GO:0050790	regulation of catalytic activity	8954105\|9271093
Hgene	CAPN1	GO:0097264	self proteolysis	8769305\|8954105

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
TCGA	RV	ESCA	TCGA-L5-A4OQ-01A	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+

* 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
In-frame	ENST00000533820	ENST00000265755	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533820	ENST00000455841	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533820	ENST00000424337	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533820	ENST00000476977	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
5CDS-3UTR	ENST00000533820	ENST00000489094	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533129	ENST00000265755	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533129	ENST00000455841	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533129	ENST00000424337	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000533129	ENST00000476977	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
5CDS-3UTR	ENST00000533129	ENST00000489094	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000524773	ENST00000265755	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000524773	ENST00000455841	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000524773	ENST00000424337	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000524773	ENST00000476977	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
5CDS-3UTR	ENST00000524773	ENST00000489094	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000279247	ENST00000265755	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000279247	ENST00000455841	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000279247	ENST00000424337	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000279247	ENST00000476977	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
5CDS-3UTR	ENST00000279247	ENST00000489094	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
intron-3CDS	ENST00000527469	ENST00000265755	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
intron-3CDS	ENST00000527469	ENST00000455841	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
intron-3CDS	ENST00000527469	ENST00000424337	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
intron-3CDS	ENST00000527469	ENST00000476977	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
intron-3UTR	ENST00000527469	ENST00000489094	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000527323	ENST00000265755	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000527323	ENST00000455841	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000527323	ENST00000424337	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
In-frame	ENST00000527323	ENST00000476977	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+
5CDS-3UTR	ENST00000527323	ENST00000489094	CAPN1	chr11	64973192	+	GTF2IRD1	chr7	73927160	+

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FusionProtFeatures for CAPN1_GTF2IRD1

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

Hgene	Tgene
CAPN1 P07384	GTF2IRD1 Q9UHL9

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Fusion gene ID: 5452

FusionGeneSummary for CAPN1_GTF2IRD1

FusionProtFeatures for CAPN1_GTF2IRD1