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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:RECQL5-CACNA1G (FusionGDB2 ID:72921)

Fusion Gene Summary for RECQL5-CACNA1G

Fusion gene summary

Fusion gene information	Fusion gene name: RECQL5-CACNA1G
	Fusion gene ID: 72921
		Hgene	Tgene
	Gene symbol	RECQL5	CACNA1G
	Gene ID	9400	8913
	Gene name	RecQ like helicase 5	calcium voltage-gated channel subunit alpha1 G
	Synonyms	RECQ5	Ca(V)T.1\|Cav3.1\|NBR13\|SCA42\|SCA42ND
	Cytomap	17q25.1	17q21.33
	Type of gene	protein-coding	protein-coding
	Description	ATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5	voltage-dependent T-type calcium channel subunit alpha-1Gcalcium channel, voltage-dependent, T type, alpha 1G subunitcav3.1cvoltage-dependent T-type calcium channel alpha 1G subunitvoltage-dependent calcium channel alpha 1G subunitvoltage-gated calci
	Modification date	20200320	20200313
	UniProtAcc	.	O43497
	Ensembl transtripts involved in fusion gene	ENST00000423245, ENST00000317905, ENST00000420326, ENST00000340830, ENST00000584999, ENST00000443199,	ENST00000360761, ENST00000354983, ENST00000352832, ENST00000442258, ENST00000416767, ENST00000502264, ENST00000515411, ENST00000510115, ENST00000503485, ENST00000515165, ENST00000507510, ENST00000514181, ENST00000515765, ENST00000507336, ENST00000514079, ENST00000507896, ENST00000512389, ENST00000513689, ENST00000513964, ENST00000505165, ENST00000507609, ENST00000514717, ENST00000510366, ENST00000429973, ENST00000359106, ENST00000358244,
Fusion gene scores	* DoF score	9 X 9 X 6=486	6 X 4 X 5=120
	# samples	11	5
	** MAII score	log2(11/486*10)=-2.14345279008112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RECQL5 [Title/Abstract] AND CACNA1G [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RECQL5(73654378)-CACNA1G(48667832), # samples:2
Anticipated loss of major functional domain due to fusion event.	RECQL5-CACNA1G seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. RECQL5-CACNA1G seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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	RECQL5	GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	23748380
Tgene	CACNA1G	GO:0042391	regulation of membrane potential	21084288
Tgene	CACNA1G	GO:0070509	calcium ion import	21084288
Tgene	CACNA1G	GO:0070588	calcium ion transmembrane transport	26456284\|26715324

Fusion gene breakpoints across RECQL5 (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 CACNA1G (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	ACC	TCGA-OR-A5JP-01A	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
ChimerDB4	ACC	TCGA-OR-A5JP-01A	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+

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Fusion Gene ORF analysis for RECQL5-CACNA1G

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
Frame-shift	ENST00000423245	ENST00000360761	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000354983	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000352832	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000442258	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000416767	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000502264	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000515411	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000510115	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000503485	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000515165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000507510	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000514181	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000515765	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000507336	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000514079	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000507896	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000512389	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000513689	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000513964	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000505165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000507609	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000514717	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000510366	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000429973	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000359106	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000423245	ENST00000358244	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000360761	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000354983	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000352832	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000442258	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000416767	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000502264	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000515411	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000510115	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000503485	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000515165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000507510	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000514181	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000515765	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000507336	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000514079	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000507896	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000512389	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000513689	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000513964	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000505165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000507609	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000514717	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000510366	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000429973	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000359106	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000317905	ENST00000358244	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000360761	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000354983	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000352832	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000442258	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000416767	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000502264	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000515411	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000510115	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000503485	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000515165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000507510	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000514181	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000515765	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000507336	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000514079	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000507896	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000512389	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000513689	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000513964	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000505165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000507609	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000514717	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000510366	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000429973	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000359106	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000420326	ENST00000358244	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000360761	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000354983	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000352832	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000442258	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000416767	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000502264	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000515411	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000510115	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000503485	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000515165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000507510	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000514181	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000515765	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000507336	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000514079	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000507896	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000512389	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000513689	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000513964	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000505165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000507609	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000514717	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000510366	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000429973	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000359106	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000340830	ENST00000358244	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000360761	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000354983	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000352832	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000442258	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000416767	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000502264	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000515411	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000510115	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000503485	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000515165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000507510	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000514181	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000515765	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000507336	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000514079	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000507896	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000512389	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000513689	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000513964	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000505165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000507609	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000514717	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000510366	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000429973	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000359106	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
Frame-shift	ENST00000584999	ENST00000358244	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000360761	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000354983	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000352832	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000442258	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000416767	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000502264	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000515411	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000510115	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000503485	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000515165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000507510	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000514181	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000515765	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000507336	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000514079	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000507896	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000512389	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000513689	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000513964	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000505165	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000507609	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000514717	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000510366	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000429973	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000359106	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+
intron-3CDS	ENST00000443199	ENST00000358244	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+

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 RECQL5-CACNA1G

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)
RECQL5	chr17	73654377	-	CACNA1G	chr17	48667831	+	6.81E-05	0.99993193
RECQL5	chr17	73654377	-	CACNA1G	chr17	48667831	+	6.81E-05	0.99993193

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 RECQL5-CACNA1G

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
.	CACNA1G O43497
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.	FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. {ECO:0000269\|PubMed:10648811, ECO:0000269\|PubMed:10692398, ECO:0000269\|PubMed:26456284, ECO:0000269\|PubMed:26715324, ECO:0000269\|PubMed:29878067}.

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 RECQL5-CACNA1G

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 RECQL5-CACNA1G

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 RECQL5-CACNA1G

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
Tgene	CACNA1G	O43497	DB00347	Trimethadione	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB00347	Trimethadione	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB00593	Ethosuximide	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB00593	Ethosuximide	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB00661	Verapamil	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB00661	Verapamil	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB04841	Flunarizine	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB04841	Flunarizine	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB05246	Methsuximide	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB05246	Methsuximide	Inhibitor	Small molecule	Approved
Tgene	CACNA1G	O43497	DB00568	Cinnarizine	Inhibitor	Small molecule	Approved\|Investigational
Tgene	CACNA1G	O43497	DB00568	Cinnarizine	Inhibitor	Small molecule	Approved\|Investigational
Tgene	CACNA1G	O43497	DB00909	Zonisamide	Inhibitor	Small molecule	Approved\|Investigational
Tgene	CACNA1G	O43497	DB00909	Zonisamide	Inhibitor	Small molecule	Approved\|Investigational
Tgene	CACNA1G	O43497	DB09061	Cannabidiol		Small molecule	Approved\|Investigational
Tgene	CACNA1G	O43497	DB09061	Cannabidiol		Small molecule	Approved\|Investigational

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Related Diseases for RECQL5-CACNA1G

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	CACNA1G	C4225205	SPINOCEREBELLAR ATAXIA 42	4	GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	CACNA1G	C0020796	Profound Mental Retardation	1	CTD_human
Tgene	CACNA1G	C0025363	Mental Retardation, Psychosocial	1	CTD_human
Tgene	CACNA1G	C0917816	Mental deficiency	1	CTD_human
Tgene	CACNA1G	C3714756	Intellectual Disability	1	CTD_human
Tgene	CACNA1G	C4748120	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	1	GENOMICS_ENGLAND;UNIPROT