	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 30907

FusionGeneSummary for RECQL5_CACNA1G

Fusion gene summary

Fusion gene information	Fusion gene name: RECQL5_CACNA1G
	Fusion gene ID: 30907
		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
	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	20180523	20180523
	UniProtAcc	O94762	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	8 X 7 X 5=280	5 X 3 X 4=60
	# samples	9	4
	** MAII score	log2(9/280*10)=-1.63742992061529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/60*10)=-0.584962500721156 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]
Functional or gene categories assigned by FusionGDB annotation	DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.

* 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 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	ACC	TCGA-OR-A5JP-01A	RECQL5	chr17	73654378	-	CACNA1G	chr17	48667832	+

* 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
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	+

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FusionProtFeatures for RECQL5_CACNA1G

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

Hgene	Tgene
RECQL5 O94762	CACNA1G O43497
Isoform beta is a DNA helicase that plays an importantrole in DNA replication, transcription and repair. Inhibitselongation of stalled transcripts at DNA damage sites by bindingto the RNA polymerase II subunit POLR2A and blocking the TCEA1binding site. Required for mitotic chromosome separation aftercross-over events and cell cycle progress. Required for efficientDNA repair, including repair of inter-strand cross-links.Stimulates DNA decatenation mediated by TOP2A. Prevents sisterchromatid exchange and homologous recombination.{ECO:0000269\|PubMed:20231364, ECO:0000269\|PubMed:20348101,ECO:0000269\|PubMed:20643585, ECO:0000269\|PubMed:22013166,ECO:0000269\|PubMed:22973052, ECO:0000269\|PubMed:23715498,ECO:0000269\|PubMed:23748380}.

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 RECQL5_CACNA1G

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 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
RECQL5	CUX1, DDX42, ITGB3BP, MAPK8IP1, MTSS1, CREB1, PLK1, TIMP1, EEF1G, TOP3A, TOP3B, MRE11A, RAD50, NBN, PRKDC, RECQL4, MCM7, POLR2A, POLR2B, NCL, UBR5, CUL5, DHX29, BRCA1, MDC1, POLR2C, RAD51, PCNA, POLR2E, POLR2G, POLR2D, POLR2I, BNIPL, RPRD1B, POLR2M, DXO, DHX36, EIF2D, KIN, TP53, HIST1H2BG, HIST1H3A, FOSL2, POLR2F, PARD6B, POLR1A, WWP2, LMO2, PITHD1, FANCC, BRCA2	CACNA1G	UBQLN4, RANBP9

- 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 RECQL5_CACNA1G

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
Tgene	CACNA1G	O43497	DB00347	Trimethadione	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved
Tgene	CACNA1G	O43497	DB00593	Ethosuximide	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved
Tgene	CACNA1G	O43497	DB00661	Verapamil	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved
Tgene	CACNA1G	O43497	DB04841	Flunarizine	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved
Tgene	CACNA1G	O43497	DB05246	Methsuximide	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved
Tgene	CACNA1G	O43497	DB09089	Trimebutine	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved
Tgene	CACNA1G	O43497	DB00568	Cinnarizine	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved\|investigational
Tgene	CACNA1G	O43497	DB00909	Zonisamide	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved\|investigational
Tgene	CACNA1G	O43497	DB09231	Benidipine	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved\|investigational
Tgene	CACNA1G	O43497	DB09238	Manidipine	Voltage-dependent T-type calcium channel subunit alpha-1G	small molecule	approved\|investigational

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RelatedDiseases for RECQL5_CACNA1G

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	CACNA1G	C3714756	Intellectual Disability	1	CTD_human
Tgene	CACNA1G	C4225205	SPINOCEREBELLAR ATAXIA 42	1	ORPHANET;UNIPROT

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Fusion gene ID: 30907

FusionGeneSummary for RECQL5_CACNA1G

FusionProtFeatures for RECQL5_CACNA1G

FusionGeneSequence for RECQL5_CACNA1G

FusionGenePPI for RECQL5_CACNA1G

RelatedDrugs for RECQL5_CACNA1G

RelatedDiseases for RECQL5_CACNA1G