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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:CACNA1C-NAA50 (FusionGDB2 ID:12309)

Fusion Gene Summary for CACNA1C-NAA50

Fusion gene summary

Fusion gene information	Fusion gene name: CACNA1C-NAA50
	Fusion gene ID: 12309
		Hgene	Tgene
	Gene symbol	CACNA1C	NAA50
	Gene ID	775	80218
	Gene name	calcium voltage-gated channel subunit alpha1 C	N-alpha-acetyltransferase 50, NatE catalytic subunit
	Synonyms	CACH2\|CACN2\|CACNL1A1\|CCHL1A1\|CaV1.2\|LQT8\|TS\|TS. LQT8	MAK3\|NAT13\|NAT13P\|NAT5\|NAT5P\|SAN\|hNaa50p
	Cytomap	12p13.33	3q13.31
	Type of gene	protein-coding	protein-coding
	Description	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,	N-alpha-acetyltransferase 50N-acetyltransferase 13 (GCN5-related)N-acetyltransferase 5N-acetyltransferase san homologN-epsilon-acetyltransferase 50natE catalytic subunit
	Modification date	20200315	20200313
	UniProtAcc	Q13936	Q9GZZ1
	Ensembl transtripts involved in fusion gene	ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, ENST00000491104,	ENST00000240922, ENST00000467022, ENST00000477813, ENST00000493454, ENST00000493900, ENST00000497255, ENST00000497525,
Fusion gene scores	* DoF score	19 X 16 X 8=2432	9 X 5 X 5=225
	# samples	19	9
	** MAII score	log2(19/2432*10)=-3.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/225*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CACNA1C [Title/Abstract] AND NAA50 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CACNA1C(2670007)-NAA50(113437840), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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	CACNA1C	GO:0007204	positive regulation of cytosolic calcium ion concentration	12130699
Hgene	CACNA1C	GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	15454078
Hgene	CACNA1C	GO:0070588	calcium ion transmembrane transport	15454078
Tgene	NAA50	GO:0006474	N-terminal protein amino acid acetylation	21900231\|22311970\|27484799
Tgene	NAA50	GO:0034087	establishment of mitotic sister chromatid cohesion	27422821
Tgene	NAA50	GO:0071962	mitotic sister chromatid cohesion, centromeric	17502424

Fusion gene breakpoints across CACNA1C (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 NAA50 (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
ChiTaRS5.0	N/A	GW493088	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+

Top

Fusion Gene ORF analysis for CACNA1C-NAA50

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	ENST00000327702	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000335762	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000344100	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000347598	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399591	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399595	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399597	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399601	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399603	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399606	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399617	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399621	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399629	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399634	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399637	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399638	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399641	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399644	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399649	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000399655	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000402845	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000406454	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000480911	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-3UTR	ENST00000491104	ENST00000240922	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000327702	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000327702	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000327702	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000327702	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000327702	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000327702	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000335762	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000335762	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000335762	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000335762	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000335762	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000335762	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000344100	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000344100	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000344100	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000344100	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000344100	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000344100	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000347598	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000347598	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000347598	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000347598	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000347598	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000347598	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399591	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399591	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399591	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399591	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399591	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399591	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399595	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399595	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399595	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399595	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399595	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399595	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399597	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399597	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399597	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399597	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399597	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399597	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399601	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399601	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399601	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399601	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399601	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399601	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399603	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399603	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399603	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399603	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399603	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399603	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399606	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399606	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399606	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399606	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399606	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399606	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399617	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399617	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399617	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399617	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399617	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399617	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399621	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399621	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399621	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399621	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399621	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399621	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399629	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399629	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399629	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399629	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399629	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399629	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399634	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399634	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399634	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399634	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399634	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399634	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399637	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399637	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399637	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399637	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399637	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399637	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399638	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399638	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399638	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399638	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399638	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399638	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399641	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399641	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399641	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399641	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399641	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399641	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399644	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399644	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399644	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399644	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399644	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399644	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399649	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399649	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399649	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399649	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399649	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399649	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399655	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399655	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399655	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399655	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399655	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000399655	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000402845	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000402845	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000402845	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000402845	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000402845	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000402845	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000406454	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000406454	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000406454	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000406454	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000406454	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000406454	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000480911	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000480911	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000480911	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000480911	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000480911	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000480911	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000491104	ENST00000467022	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000491104	ENST00000477813	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000491104	ENST00000493454	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000491104	ENST00000493900	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000491104	ENST00000497255	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+
intron-intron	ENST00000491104	ENST00000497525	CACNA1C	chr12	2670007	-	NAA50	chr3	113437840	+

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 CACNA1C-NAA50

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)

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 CACNA1C-NAA50

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:2670007/:113437840)
- 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	NAA50 Q9GZZ1
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}.	FUNCTION: N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine (PubMed:19744929, PubMed:22311970, PubMed:21900231, PubMed:27484799). Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position (PubMed:27484799). Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins (PubMed:19744929). Autoacetylates in vivo (PubMed:19744929). The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo (PubMed:19744929). Component of a N-alpha-acetyltransferase complex containing NAA10 and NAA15, but NAA50 does not influence the acetyltransferase activity of NAA10: this multiprotein complex probably constitutes the major contributor for N-terminal acetylation at the ribosome exit tunnel, with NAA10 acetylating all amino termini that are devoid of methionine and NAA50 acetylating other peptides (PubMed:16507339, PubMed:27484799). Required for sister chromatid cohesion during mitosis by promoting binding of CDCA5/sororin to cohesin: may act by counteracting the function of NAA10 (PubMed:17502424, PubMed:27422821). {ECO:0000269\|PubMed:16507339, ECO:0000269\|PubMed:17502424, ECO:0000269\|PubMed:19744929, ECO:0000269\|PubMed:21900231, ECO:0000269\|PubMed:22311970, ECO:0000269\|PubMed:27422821, ECO:0000269\|PubMed:27484799}.

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 CACNA1C-NAA50

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 CACNA1C-NAA50

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 CACNA1C-NAA50

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 CACNA1C-NAA50

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source