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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:GEMIN7-APOC1 (FusionGDB2 ID:32896)

Fusion Gene Summary for GEMIN7-APOC1

Fusion gene summary

Fusion gene information	Fusion gene name: GEMIN7-APOC1
	Fusion gene ID: 32896
		Hgene	Tgene
	Gene symbol	GEMIN7	APOC1
	Gene ID	79760	341
	Gene name	gem nuclear organelle associated protein 7	apolipoprotein C1
	Synonyms	SIP3	Apo-CI\|ApoC-I\|apo-CIB\|apoC-IB
	Cytomap	19q13.32	19q13.32
	Type of gene	protein-coding	protein-coding
	Description	gem-associated protein 7gemin-7	apolipoprotein C-I
	Modification date	20200313	20200313
	UniProtAcc	.	P02654
	Ensembl transtripts involved in fusion gene	ENST00000592351, ENST00000270257, ENST00000591747, ENST00000391951, ENST00000591607,	ENST00000252491, ENST00000586638, ENST00000588750, ENST00000588802, ENST00000589781, ENST00000592885,
Fusion gene scores	* DoF score	2 X 2 X 2=8	4 X 5 X 3=60
	# samples	3	5
	** MAII score	log2(3/8*10)=1.90689059560852	log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GEMIN7 [Title/Abstract] AND APOC1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GEMIN7(45583287)-APOC1(45422429), # samples:1 GEMIN7(45583287)-APOC1(45422430), # 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	GEMIN7	GO:0000387	spliceosomal snRNP assembly	18984161
Tgene	APOC1	GO:0010900	negative regulation of phosphatidylcholine catabolic process	2302419
Tgene	APOC1	GO:0010916	negative regulation of very-low-density lipoprotein particle clearance	1917954
Tgene	APOC1	GO:0032375	negative regulation of cholesterol transport	10978346
Tgene	APOC1	GO:0033344	cholesterol efflux	11162594
Tgene	APOC1	GO:0033700	phospholipid efflux	11162594
Tgene	APOC1	GO:0034369	plasma lipoprotein particle remodeling	10978346
Tgene	APOC1	GO:0034382	chylomicron remnant clearance	4020294
Tgene	APOC1	GO:0045717	negative regulation of fatty acid biosynthetic process	15576844
Tgene	APOC1	GO:0045833	negative regulation of lipid metabolic process	182536
Tgene	APOC1	GO:0048261	negative regulation of receptor-mediated endocytosis	1917954
Tgene	APOC1	GO:0050995	negative regulation of lipid catabolic process	15576844
Tgene	APOC1	GO:0051005	negative regulation of lipoprotein lipase activity	15576844

Fusion gene breakpoints across GEMIN7 (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 APOC1 (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	OV	TCGA-61-1738-01A	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
ChimerDB4	OV	TCGA-61-1738	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+

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Fusion Gene ORF analysis for GEMIN7-APOC1

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
3UTR-3CDS	ENST00000592351	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
3UTR-3CDS	ENST00000592351	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
3UTR-3CDS	ENST00000592351	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
3UTR-3CDS	ENST00000592351	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
3UTR-3CDS	ENST00000592351	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
3UTR-3CDS	ENST00000592351	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
3UTR-3CDS	ENST00000592351	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
3UTR-3CDS	ENST00000592351	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
3UTR-3CDS	ENST00000592351	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
3UTR-3CDS	ENST00000592351	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
3UTR-3CDS	ENST00000592351	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
3UTR-3CDS	ENST00000592351	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000270257	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000270257	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000270257	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000270257	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000270257	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000270257	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000270257	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000270257	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000270257	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000270257	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000270257	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000270257	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000591747	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000591747	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000591747	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000591747	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000591747	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000591747	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000591747	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000591747	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000591747	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000591747	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
5UTR-3CDS	ENST00000591747	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
5UTR-3CDS	ENST00000591747	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000391951	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000391951	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000391951	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000391951	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000391951	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000391951	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000391951	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000391951	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000391951	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000391951	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000391951	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000391951	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000591607	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000591607	ENST00000252491	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000591607	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000591607	ENST00000586638	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000591607	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000591607	ENST00000588750	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000591607	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000591607	ENST00000588802	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000591607	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000591607	ENST00000589781	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+
intron-3CDS	ENST00000591607	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422430	+
intron-3CDS	ENST00000591607	ENST00000592885	GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+

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 GEMIN7-APOC1

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)
GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+	0.00807187	0.9919281
GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+	0.00807187	0.9919281
GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+	0.00807187	0.9919281
GEMIN7	chr19	45583287	+	APOC1	chr19	45422429	+	0.00807187	0.9919281

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 GEMIN7-APOC1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45583287/:45422429)
- 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
.	APOC1 P02654
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: Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein. {ECO:0000269\|PubMed:17339654, ECO:0000303\|PubMed:25160599}.

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 GEMIN7-APOC1

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 GEMIN7-APOC1

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 GEMIN7-APOC1

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 GEMIN7-APOC1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source