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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:UBA52-CACNA1C (FusionGDB2 ID:95826)

Fusion Gene Summary for UBA52-CACNA1C

Fusion gene summary

Fusion gene information	Fusion gene name: UBA52-CACNA1C
	Fusion gene ID: 95826
		Hgene	Tgene
	Gene symbol	UBA52	CACNA1C
	Gene ID	7311	775
	Gene name	ubiquitin A-52 residue ribosomal protein fusion product 1	calcium voltage-gated channel subunit alpha1 C
	Synonyms	CEP52\|HUBCEP52\|L40\|RPL40	CACH2\|CACN2\|CACNL1A1\|CCHL1A1\|CaV1.2\|LQT8\|TS\|TS. LQT8
	Cytomap	19p13.11	12p13.33
	Type of gene	protein-coding	protein-coding
	Description	ubiquitin-60S ribosomal protein L40ubiquitin carboxyl extension protein 52ubiquitin-52 amino acid fusion proteinubiquitin-CEP52	voltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent,
	Modification date	20200313	20200315
	UniProtAcc	.	Q13936
	Ensembl transtripts involved in fusion gene	ENST00000430157, ENST00000442744, ENST00000595158, ENST00000595683, ENST00000596273, ENST00000596304, ENST00000597451, ENST00000598780, ENST00000599551, ENST00000599595,	ENST00000491104, ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911,
Fusion gene scores	* DoF score	30 X 21 X 5=3150	21 X 20 X 10=4200
	# samples	33	24
	** MAII score	log2(33/3150*10)=-3.25481389902883 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(24/4200*10)=-4.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: UBA52 [Title/Abstract] AND CACNA1C [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	UBA52(18684558)-CACNA1C(2721069), # samples:1
Anticipated loss of major functional domain due to fusion event.	UBA52-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. UBA52-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. UBA52-CACNA1C 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
Tgene	CACNA1C	GO:0007204	positive regulation of cytosolic calcium ion concentration	12130699
Tgene	CACNA1C	GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	15454078
Tgene	CACNA1C	GO:0070588	calcium ion transmembrane transport	15454078

Fusion gene breakpoints across UBA52 (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 CACNA1C (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	LUAD	TCGA-55-1596-01A	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+

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Fusion Gene ORF analysis for UBA52-CACNA1C

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
5CDS-intron	ENST00000430157	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000442744	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000595158	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000595683	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000596273	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000596304	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000597451	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000598780	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000599551	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
5CDS-intron	ENST00000599595	ENST00000491104	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000430157	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000442744	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595158	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000595683	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596273	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000596304	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000597451	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000598780	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599551	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000327702	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000335762	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000344100	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000347598	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399591	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399595	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399597	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399601	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399603	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399606	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399617	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399621	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399629	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399634	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399637	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399638	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399641	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399644	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399649	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000399655	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000402845	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000406454	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+
Frame-shift	ENST00000599595	ENST00000480911	UBA52	chr19	18684558	+	CACNA1C	chr12	2721069	+

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 UBA52-CACNA1C

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)
UBA52	chr19	18684558	+	CACNA1C	chr12	2721068	+	1.20E-11	1
UBA52	chr19	18684558	+	CACNA1C	chr12	2721068	+	1.20E-11	1

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 UBA52-CACNA1C

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:18684558/:2721069)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
.	CACNA1C Q13936
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:23677916). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable). {ECO:0000250\|UniProtKB:P15381, ECO:0000269\|PubMed:11741969, ECO:0000269\|PubMed:12176756, ECO:0000269\|PubMed:12181424, ECO:0000269\|PubMed:15454078, ECO:0000269\|PubMed:15863612, ECO:0000269\|PubMed:16299511, ECO:0000269\|PubMed:17071743, ECO:0000269\|PubMed:17224476, ECO:0000269\|PubMed:20953164, ECO:0000269\|PubMed:23677916, ECO:0000269\|PubMed:24728418, ECO:0000269\|PubMed:26253506, ECO:0000269\|PubMed:27218670, ECO:0000269\|PubMed:28119464, ECO:0000269\|PubMed:29078335, ECO:0000269\|PubMed:29742403, ECO:0000269\|PubMed:7737988, ECO:0000269\|PubMed:8099908, ECO:0000269\|PubMed:8392192, ECO:0000269\|PubMed:9013606, ECO:0000269\|PubMed:9087614, ECO:0000269\|PubMed:9607315, ECO:0000305}.; FUNCTION: (Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930). {ECO:0000269\|PubMed:29779930}.

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 UBA52-CACNA1C

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 UBA52-CACNA1C

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 UBA52-CACNA1C

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

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Related Diseases for UBA52-CACNA1C

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source