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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:SERPINA1-CD46 (FusionGDB2 ID:80141)

Fusion Gene Summary for SERPINA1-CD46

Fusion gene summary

Fusion gene information	Fusion gene name: SERPINA1-CD46
	Fusion gene ID: 80141
		Hgene	Tgene
	Gene symbol	SERPINA1	CD46
	Gene ID	5265	4179
	Gene name	serpin family A member 1	CD46 molecule
	Synonyms	A1A\|A1AT\|AAT\|PI\|PI1\|PRO2275\|alpha1AT\|nNIF	AHUS2\|MCP\|MIC10\|TLX\|TRA2.10
	Cytomap	14q32.13	1q32.2
	Type of gene	protein-coding	protein-coding
	Description	alpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5epididymis secretory sperm binding protein	membrane cofactor proteinCD46 antigen, complement regulatory proteinCD46 molecule, complement regulatory proteinantigen identified by monoclonal antibody TRA-2-10complement membrane cofactor proteinmeasles virus receptormembrane cofactor protein (CD
	Modification date	20200327	20200313
	UniProtAcc	.	P15529
	Ensembl transtripts involved in fusion gene	ENST00000440909, ENST00000448921, ENST00000437397, ENST00000355814, ENST00000393087, ENST00000393088, ENST00000404814, ENST00000449399, ENST00000402629, ENST00000555289,	ENST00000367042, ENST00000354848, ENST00000441839, ENST00000322875, ENST00000367041, ENST00000358170, ENST00000322918, ENST00000361067, ENST00000367047, ENST00000357714, ENST00000469535, ENST00000360212, ENST00000480003,
Fusion gene scores	* DoF score	28 X 24 X 6=4032	16 X 13 X 7=1456
	# samples	28	17
	** MAII score	log2(28/4032*10)=-3.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(17/1456*10)=-3.098403704061 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SERPINA1 [Title/Abstract] AND CD46 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SERPINA1(94844713)-CD46(207940358), # samples:2
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
Tgene	CD46	GO:0008593	regulation of Notch signaling pathway	23086448
Tgene	CD46	GO:0010629	negative regulation of gene expression	23086448
Tgene	CD46	GO:0032613	interleukin-10 production	23086448
Tgene	CD46	GO:0032733	positive regulation of interleukin-10 production	12540904
Tgene	CD46	GO:0035581	sequestering of extracellular ligand from receptor	23086448
Tgene	CD46	GO:0042102	positive regulation of T cell proliferation	12540904
Tgene	CD46	GO:0043382	positive regulation of memory T cell differentiation	12540904
Tgene	CD46	GO:0045591	positive regulation of regulatory T cell differentiation	12540904
Tgene	CD46	GO:0071636	positive regulation of transforming growth factor beta production	12540904

Fusion gene breakpoints across SERPINA1 (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 CD46 (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	LIHC	TCGA-DD-A4NB-01A	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
ChimerDB4	LIHC	TCGA-DD-A4NN-01A	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+

Top

Fusion Gene ORF analysis for SERPINA1-CD46

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-3CDS	ENST00000440909	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000440909	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000440909	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000440909	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000440909	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000448921	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000448921	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000448921	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000448921	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000437397	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000437397	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000437397	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000437397	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000355814	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000355814	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000355814	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000355814	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000393087	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000393087	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000393087	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000393087	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
Frame-shift	ENST00000393088	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
5CDS-3UTR	ENST00000393088	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
5CDS-3UTR	ENST00000393088	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
5CDS-3UTR	ENST00000393088	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000404814	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000404814	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000404814	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000404814	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000449399	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000449399	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000449399	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000449399	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000402629	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000402629	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000402629	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000402629	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000367042	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000354848	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000441839	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000322875	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000367041	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000358170	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000322918	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000361067	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000367047	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3CDS	ENST00000555289	ENST00000357714	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000555289	ENST00000469535	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000555289	ENST00000360212	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+
intron-3UTR	ENST00000555289	ENST00000480003	SERPINA1	chr14	94844713	-	CD46	chr1	207940358	+

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 SERPINA1-CD46

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)
SERPINA1	chr14	94844712	-	CD46	chr1	207940357	+	0.000155317	0.9998447
SERPINA1	chr14	94844712	-	CD46	chr1	207940357	+	0.000155317	0.9998447

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 SERPINA1-CD46

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
.	CD46 P15529
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: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. {ECO:0000269\|PubMed:10843656, ECO:0000269\|PubMed:12540904}.; FUNCTION: (Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.; FUNCTION: (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3. {ECO:0000269\|PubMed:12915534, ECO:0000269\|PubMed:14566335, ECO:0000269\|PubMed:15047806, ECO:0000269\|PubMed:15078926, ECO:0000269\|PubMed:15919905, ECO:0000269\|PubMed:16254377}.; FUNCTION: (Microbial infection) Acts as a receptor for cultured Measles virus. {ECO:0000269\|PubMed:10972291}.; FUNCTION: (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6. {ECO:0000269\|PubMed:12663806, ECO:0000269\|PubMed:12724329}.; FUNCTION: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

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 SERPINA1-CD46

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 SERPINA1-CD46

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 SERPINA1-CD46

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 SERPINA1-CD46

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SERPINA1	C0023895	Liver diseases	6	CTD_human
Hgene	SERPINA1	C0086565	Liver Dysfunction	6	CTD_human
Hgene	SERPINA1	C0221757	alpha 1-Antitrypsin Deficiency	6	CTD_human;GENOMICS_ENGLAND
Hgene	SERPINA1	C0023890	Liver Cirrhosis	3	CTD_human
Hgene	SERPINA1	C0239946	Fibrosis, Liver	3	CTD_human
Hgene	SERPINA1	C0005586	Bipolar Disorder	2	CTD_human;PSYGENET
Hgene	SERPINA1	C0024117	Chronic Obstructive Airway Disease	2	CTD_human
Hgene	SERPINA1	C0030328	Panniculitis, Nodular Nonsuppurative	2	CTD_human
Hgene	SERPINA1	C0525045	Mood Disorders	2	PSYGENET
Hgene	SERPINA1	C1527303	Chronic Airflow Obstruction	2	CTD_human
Hgene	SERPINA1	C2239176	Liver carcinoma	2	CTD_human
Hgene	SERPINA1	C0001418	Adenocarcinoma	1	CTD_human
Hgene	SERPINA1	C0003469	Anxiety Disorders	1	CTD_human
Hgene	SERPINA1	C0003850	Arteriosclerosis	1	CTD_human
Hgene	SERPINA1	C0003949	Asbestosis	1	CTD_human
Hgene	SERPINA1	C0005587	Depression, Bipolar	1	CTD_human
Hgene	SERPINA1	C0006267	Bronchiectasis	1	CTD_human
Hgene	SERPINA1	C0008370	Cholestasis	1	CTD_human
Hgene	SERPINA1	C0013221	Drug toxicity	1	CTD_human
Hgene	SERPINA1	C0013990	Pathological accumulation of air in tissues	1	CTD_human
Hgene	SERPINA1	C0019080	Hemorrhage	1	CTD_human
Hgene	SERPINA1	C0019693	HIV Infections	1	CTD_human
Hgene	SERPINA1	C0020615	Hypoglycemia	1	CTD_human
Hgene	SERPINA1	C0022660	Kidney Failure, Acute	1	CTD_human
Hgene	SERPINA1	C0024115	Lung diseases	1	CTD_human;GENOMICS_ENGLAND
Hgene	SERPINA1	C0024121	Lung Neoplasms	1	CTD_human
Hgene	SERPINA1	C0024623	Malignant neoplasm of stomach	1	CTD_human
Hgene	SERPINA1	C0024713	Manic Disorder	1	CTD_human
Hgene	SERPINA1	C0027627	Neoplasm Metastasis	1	CTD_human
Hgene	SERPINA1	C0034067	Pulmonary Emphysema	1	CTD_human
Hgene	SERPINA1	C0034069	Pulmonary Fibrosis	1	CTD_human
Hgene	SERPINA1	C0038356	Stomach Neoplasms	1	CTD_human
Hgene	SERPINA1	C0039841	Thiamine Deficiency	1	CTD_human
Hgene	SERPINA1	C0041755	Adverse reaction to drug	1	CTD_human
Hgene	SERPINA1	C0042384	Vasculitis	1	CTD_human
Hgene	SERPINA1	C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
Hgene	SERPINA1	C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
Hgene	SERPINA1	C0205643	Carcinoma, Cribriform	1	CTD_human
Hgene	SERPINA1	C0205644	Carcinoma, Granular Cell	1	CTD_human
Hgene	SERPINA1	C0205645	Adenocarcinoma, Tubular	1	CTD_human
Hgene	SERPINA1	C0221227	Centriacinar Emphysema	1	CTD_human
Hgene	SERPINA1	C0242379	Malignant neoplasm of lung	1	CTD_human
Hgene	SERPINA1	C0264393	Panacinar Emphysema	1	CTD_human
Hgene	SERPINA1	C0270715	Degenerative Diseases, Central Nervous System	1	CTD_human
Hgene	SERPINA1	C0271708	Fasting Hypoglycemia	1	CTD_human
Hgene	SERPINA1	C0271710	Reactive hypoglycemia	1	CTD_human
Hgene	SERPINA1	C0338831	Manic	1	CTD_human
Hgene	SERPINA1	C0376280	Anxiety States, Neurotic	1	CTD_human
Hgene	SERPINA1	C0524851	Neurodegenerative Disorders	1	CTD_human
Hgene	SERPINA1	C0751733	Degenerative Diseases, Spinal Cord	1	CTD_human
Hgene	SERPINA1	C1279420	Anxiety neurosis (finding)	1	CTD_human
Hgene	SERPINA1	C1565662	Acute Kidney Insufficiency	1	CTD_human
Hgene	SERPINA1	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
Hgene	SERPINA1	C2350878	Focal Emphysema	1	CTD_human
Hgene	SERPINA1	C2609414	Acute kidney injury	1	CTD_human
Hgene	SERPINA1	C2930617	Pulmonary Fibrosis - from Asbestos Exposure	1	CTD_human
Hgene	SERPINA1	C2930967	Gastro-enteropancreatic neuroendocrine tumor	1	CTD_human
Hgene	SERPINA1	C4505456	HIV Coinfection	1	CTD_human
Hgene	SERPINA1	C4721507	Alveolitis, Fibrosing	1	CTD_human
Tgene	CD46	C2752040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	6	GENOMICS_ENGLAND;UNIPROT
Tgene	CD46	C2931788	Atypical Hemolytic Uremic Syndrome	2	CTD_human;GENOMICS_ENGLAND
Tgene	CD46	C0019061	Hemolytic-Uremic Syndrome	1	GENOMICS_ENGLAND
Tgene	CD46	C0025007	Measles	1	CTD_human
Tgene	CD46	C0162739	HELLP Syndrome	1	ORPHANET
Tgene	CD46	C0272242	Complement deficiency disease	1	GENOMICS_ENGLAND
Tgene	CD46	C3658266	Prostatic Cancer, Castration-Resistant	1	CTD_human
Tgene	CD46	C3658267	Prostatic Neoplasms, Castration-Resistant	1	CTD_human
Tgene	CD46	C4087273	C3 glomerulopathy	1	GENOMICS_ENGLAND