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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
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Fusion gene:NXN-CAV1 (FusionGDB2 ID:HG64359TG857)

Fusion Gene Summary for NXN-CAV1

Fusion gene summary

Fusion gene information	Fusion gene name: NXN-CAV1
	Fusion gene ID: hg64359tg857
		Hgene	Tgene
	Gene symbol	NXN	CAV1
	Gene ID	64359	857
	Gene name	nucleoredoxin	caveolin 1
	Synonyms	NRX\|RRS2\|TRG-4	BSCL3\|CGL3\|LCCNS\|MSTP085\|PPH3\|VIP21
	Cytomap	('NXN')('CAV1') 17p13.3	7q31.2
	Type of gene	protein-coding	protein-coding
	Description	nucleoredoxinnucleoredoxin 1	caveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32
	Modification date	20200327	20200329
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000336868, ENST00000537628, ENST00000538650, ENST00000575801, ENST00000577098,
Fusion gene scores	* DoF score	16 X 13 X 11=2288	11 X 9 X 7=693
	# samples	23	14
	** MAII score	log2(23/2288*10)=-3.31438128583401 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(14/693*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: NXN [Title/Abstract] AND CAV1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	NXN(882559)-CAV1(116166579), # samples:1
Anticipated loss of major functional domain due to fusion event.	NXN-CAV1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. NXN-CAV1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. NXN-CAV1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. NXN-CAV1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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	CAV1	GO:0009617	response to bacterium	24625804
Tgene	CAV1	GO:0010875	positive regulation of cholesterol efflux	24576892
Tgene	CAV1	GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	25893292
Tgene	CAV1	GO:0031295	T cell costimulation	17287217
Tgene	CAV1	GO:0031623	receptor internalization	25893292
Tgene	CAV1	GO:0032091	negative regulation of protein binding	16890161
Tgene	CAV1	GO:0032570	response to progesterone	12388746
Tgene	CAV1	GO:0033137	negative regulation of peptidyl-serine phosphorylation	18081315
Tgene	CAV1	GO:0033138	positive regulation of peptidyl-serine phosphorylation	18081315
Tgene	CAV1	GO:0043627	response to estrogen	12388746
Tgene	CAV1	GO:0051480	regulation of cytosolic calcium ion concentration	19052258
Tgene	CAV1	GO:0072584	caveolin-mediated endocytosis	19931615
Tgene	CAV1	GO:1900027	regulation of ruffle assembly	24625804
Tgene	CAV1	GO:2000535	regulation of entry of bacterium into host cell	24625804

Fusion gene breakpoints across NXN (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 CAV1 (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
* 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	Non-Cancer	ERR315355	NXN	chr17	882559	-	CAV1	chr7	116166579	+

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Fusion Gene ORF analysis for NXN-CAV1

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-5UTR	ENST00000336868	ENST00000393467	NXN	chr17	882559	-	CAV1	chr7	116166579	+
5CDS-5UTR	ENST00000336868	ENST00000393468	NXN	chr17	882559	-	CAV1	chr7	116166579	+
5CDS-5UTR	ENST00000336868	ENST00000405348	NXN	chr17	882559	-	CAV1	chr7	116166579	+
5CDS-intron	ENST00000336868	ENST00000393470	NXN	chr17	882559	-	CAV1	chr7	116166579	+
In-frame	ENST00000336868	ENST00000341049	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-3CDS	ENST00000537628	ENST00000341049	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-3CDS	ENST00000538650	ENST00000341049	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-3CDS	ENST00000575801	ENST00000341049	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-3CDS	ENST00000577098	ENST00000341049	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000537628	ENST00000393467	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000537628	ENST00000393468	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000537628	ENST00000405348	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000538650	ENST00000393467	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000538650	ENST00000393468	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000538650	ENST00000405348	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000575801	ENST00000393467	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000575801	ENST00000393468	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000575801	ENST00000405348	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000577098	ENST00000393467	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000577098	ENST00000393468	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-5UTR	ENST00000577098	ENST00000405348	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-intron	ENST00000537628	ENST00000393470	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-intron	ENST00000538650	ENST00000393470	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-intron	ENST00000575801	ENST00000393470	NXN	chr17	882559	-	CAV1	chr7	116166579	+
intron-intron	ENST00000577098	ENST00000393470	NXN	chr17	882559	-	CAV1	chr7	116166579	+

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)

ENST00000336868

NXN

chr17

882559

ENST00000341049

CAV1

chr7

116166579

2848

452

958

316

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
ENST00000336868	ENST00000341049	NXN	chr17	882559	-	CAV1	chr7	116166579	+	0.000624241	0.99937576

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Fusion Genomic Features for NXN-CAV1

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)
NXN	chr17	882558	-	CAV1	chr7	116166578	+	5.53E-05	0.9999447
NXN	chr17	882558	-	CAV1	chr7	116166578	+	5.53E-05	0.9999447

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 NXN-CAV1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:882559/chr7:116166579)
- 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
.	.
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: 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}.

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

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

105_125

179.0

Intramembrane

Helical

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

105_125

148.0

Intramembrane

Helical

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

105_125

148.0

Intramembrane

Helical

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

105_125

148.0

Intramembrane

Helical

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

131_142

179.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

149_160

179.0

Region

Interacts with SPRY1%2C SPRY2%2C and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

167_178

179.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

131_142

148.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

149_160

148.0

Region

Interacts with SPRY1%2C SPRY2%2C and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

167_178

148.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

2_94

148.0

Region

Required for homooligomerization

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

131_142

148.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

149_160

148.0

Region

Interacts with SPRY1%2C SPRY2%2C and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

167_178

148.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

2_94

148.0

Region

Required for homooligomerization

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

131_142

148.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

149_160

148.0

Region

Interacts with SPRY1%2C SPRY2%2C and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

167_178

148.0

Region

Interacts with SPRY1%2C SPRY2%2C SPRY3 and SPRY4

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

2_94

148.0

Region

Required for homooligomerization

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

126_178

179.0

Topological domain

Cytoplasmic

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

126_178

148.0

Topological domain

Cytoplasmic

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393467

2_104

148.0

Topological domain

Cytoplasmic

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

126_178

148.0

Topological domain

Cytoplasmic

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000393468

2_104

148.0

Topological domain

Cytoplasmic

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

126_178

148.0

Topological domain

Cytoplasmic

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000405348

2_104

148.0

Topological domain

Cytoplasmic

- 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

Hgene

NXN

chr17:882559

chr7:116166579

ENST00000336868

167_321

120

436.0

Domain

Thioredoxin

Hgene

NXN

chr17:882559

chr7:116166579

ENST00000537628

167_321

187.0

Domain

Thioredoxin

Hgene

NXN

chr17:882559

chr7:116166579

ENST00000575801

167_321

328.0

Domain

Thioredoxin

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

2_94

179.0

Region

Required for homooligomerization

Tgene

CAV1

chr17:882559

chr7:116166579

ENST00000341049

2_104

179.0

Topological domain

Cytoplasmic

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Fusion Gene Sequence for NXN-CAV1

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.

>61214_61214_1_NXN-CAV1_NXN_chr17_882559_ENST00000336868_CAV1_chr7_116166579_ENST00000341049_length(transcript)=2848nt_BP=452nt
CCCAGCGCCTGCCGCCGACGCCGCCGCCTCCTCCCGCCGCGCGGACCGTGGAGCGGGGTCGCAGCCGCCTGCCCGCCCTGCGGTGGGCCA
GGATGTCGGGCTTCCTGGAGGAGCTGCTCGGCGAGAAGCTGGTGACGGGCGGCGGCGAGGAGGTGGACGTGCACTCGCTGGGCGCCCGCG
GCATCTCGCTGCTGGGTCTCTACTTCGGCTGCAGCCTCAGCGCCCCCTGCGCGCAGCTCAGCGCCAGCCTGGCCGCCTTCTACGGGCGCC
TGCGGGGGGACGCGGCGGCCGGGCCGGGGCCGGGAGCGGGGGCCGGGGCGGCGGCGGAGCCCGAGCCGCGGCGGCGCCTGGAGATCGTCT
TCGTGTCCTCGGACCAGGACCAGCGGCAGTGGCAGGACTTCGTGCGGGACATGCCGTGGCTGGCGCTGCCCTACAAGGAGAAGCACAGGA
AGGGACATCTCTACACCGTTCCCATCCGGGAACAGGGCAACATCTACAAGCCCAACAACAAGGCCATGGCAGACGAGCTGAGCGAGAAGC
AAGTGTACGACGCGCACACCAAGGAGATCGACCTGGTCAACCGCGACCCTAAACACCTCAACGATGACGTGGTCAAGATTGACTTTGAAG
ATGTGATTGCAGAACCAGAAGGGACACACAGTTTTGACGGCATTTGGAAGGCCAGCTTCACCACCTTCACTGTGACGAAATACTGGTTTT
ACCGCTTGCTGTCTGCCCTCTTTGGCATCCCGATGGCACTCATCTGGGGCATTTACTTCGCCATTCTCTCTTTCCTGCACATCTGGGCAG
TTGTACCATGCATTAAGAGCTTCCTGATTGAGATTCAGTGCATCAGCCGTGTCTATTCCATCTACGTCCACACCGTCTGTGACCCACTCT
TTGAAGCTGTTGGGAAAATATTCAGCAATGTCCGCATCAACTTGCAGAAAGAAATATAAATGACATTTCAAGGATAGAAGTATACCTGAT
TTTTTTTCCTTTTAATTTTCCTGGTGCCAATTTCAAGTTCCAAGTTGCTAATACAGCAACAATTTATGAATTGAATTATCTTGGTTGAAA
ATAAAAAGATCACTTTCTCAGTTTTCATAAGTATTATGTCTCTTCTGAGCTATTTCATCTATTTTTGGCAGTCTGAATTTTTAAAACCCA
TTTAAATTTTTTTCCTTACCTTTTTATTTGCATGTGGATCAACCATCGCTTTATTGGCTGAGATATGAACATATTGTTGAAAGGTAATTT
GAGAGAAATATGAAGAACTGAGGAGGAAAAAAAAAAAAAAGAAAAGAACCAACAACCTCAACTGCCTACTCCAAAATGTTGGTCATTTTA
TGTTAAGGGAAGAATTCCAGGGTATGGCCATGGAGTGTACAAGTATGTGGGCAGATTTTCAGCAAACTCTTTTCCCACTGTTTAAGGAGT
TAGTGGATTACTGCCATTCACTTCATAATCCAGTAGGATCCAGTGATCCTTACAAGTTAGAAAACATAATCTTCTGCCTTCTCATGATCC
AACTAATGCCTTACTCTTCTTGAAATTTTAACCTATGATATTTTCTGTGCCTGAATATTTGTTATGTAGATAACAAGACCTCAGTGCCTT
CCTGTTTTTCACATTTTCCTTTTCAAATAGGGTCTAACTCAGCAACTCGCTTTAGGTCAGCAGCCTCCCTGAAGACCAAAATTAGAATAT
CCATGACCTAGTTTTCCATGCGTGTTTCTGACTCTGAGCTACAGAGTCTGGTGAAGCTCACTTCTGGGCTTCATCTGGCAACATCTTTAT
CCGTAGTGGGTATGGTTGACACTAGCCCAATGAAATGAATTAAAGTGGACCAATAGGGCTGAGCTCTCTGTGGGCTGGCAGTCCTGGAAG
CCAGCTTTCCCTGCCTCTCATCAACTGAATGAGGTCAGCATGTCTATTCAGCTTCGTTTATTTTCAAGAATAATCACGCTTTCCTGAATC
CAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAACATTGTGTTCCCATTTCAGCTGATCAGTGGGCCTCCAAGGAGGGGCTGTAAAA
TGGAGGCCATTGTGTGAGCCTATCAGAGTTGCTGCAAACCTGACCCCTGCTCAGTAAAGCACTTGCAACCGTCTGTTATGCTGTGACACA
TGGCCCCTCCCCCTGCCAGGAGCTTTGGACCTAATCCAAGCATCCCTTTGCCCAGAAAGAAGATGGGGGAGGAGGCAGTAATAAAAAGAT
TGAAGTATTTTGCTGGAATAAGTTCAAATTCTTCTGAACTCAAACTGAGGAATTTCACCTGTAAACCTGAGTCGTACAGAAAGCTGCCTG
GTATATCCAAAAGCTTTTTATTCCTCCTGCTCATATTGTGATTCTGCCTTTGGGGACTTTTCTTAAACCTTCAGTTATGATTTTTTTTTC
ATACACTTATTGGAACTCTGCTTGATTTTTGCCTCTTCCAGTCTTCCTGACACTTTAATTACCAACCTGTTACCTACTTTGACTTTTTGC
ATTTAAAACAGACACTGGCATGGATATAGTTTTACTTTTAAACTGTGTACATAACTGAAAATGTGCTATACTGCATACTTTTTAAATGTA
AAGATATTTTTATCTTTATATGAAGAAAATCACTTAGGAAATGGCTTTGTGATTCAATCTGTAAACTGTGTATTCCAAGACATGTCTGTT
CTACATAGATGCTTAGTCCCTCATGCAAATCAATTACTGGTCCAAAAGATTGCTGAAATTTTATATGCTTACTGATATATTTTACAATTT
TTTATCATGCATGTCCTGTAAAGGTTACAAGCCTGCACAATAAAAATGTTTAACGGTT

>61214_61214_1_NXN-CAV1_NXN_chr17_882559_ENST00000336868_CAV1_chr7_116166579_ENST00000341049_length(amino acids)=316AA_BP=148
MPPTPPPPPAARTVERGRSRLPALRWARMSGFLEELLGEKLVTGGGEEVDVHSLGARGISLLGLYFGCSLSAPCAQLSASLAAFYGRLRG
DAAAGPGPGAGAGAAAEPEPRRRLEIVFVSSDQDQRQWQDFVRDMPWLALPYKEKHRKGHLYTVPIREQGNIYKPNNKAMADELSEKQVY
DAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVP
CIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI

--------------------------------------------------------------

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Fusion Gene PPI Analysis for NXN-CAV1

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
Tgene	CAV1	chr17:882559	chr7:116166579	ENST00000341049		0	3	82_94	10.0	179.0	CAVIN3
Tgene	CAV1	chr17:882559	chr7:116166579	ENST00000393467		0	2	82_94	0	148.0	CAVIN3
Tgene	CAV1	chr17:882559	chr7:116166579	ENST00000393468		0	3	82_94	0	148.0	CAVIN3
Tgene	CAV1	chr17:882559	chr7:116166579	ENST00000405348		0	3	82_94	0	148.0	CAVIN3

- 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

Top

Related Drugs for NXN-CAV1

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

Top

Related Diseases for NXN-CAV1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	NXN	C0009402	Colorectal Carcinoma	1	CTD_human
Hgene	NXN	C0009404	Colorectal Neoplasms	1	CTD_human
Hgene	NXN	C1849334	Robinow syndrome, autosomal recessive	1	ORPHANET
Tgene		C0006142	Malignant neoplasm of breast	4	CTD_human;UNIPROT
Tgene		C0678222	Breast Carcinoma	4	CTD_human
Tgene		C1257931	Mammary Neoplasms, Human	4	CTD_human
Tgene		C1458155	Mammary Neoplasms	4	CTD_human
Tgene		C4704874	Mammary Carcinoma, Human	4	CTD_human
Tgene		C0004238	Atrial Fibrillation	3	CTD_human
Tgene		C0235480	Paroxysmal atrial fibrillation	3	CTD_human
Tgene		C2585653	Persistent atrial fibrillation	3	CTD_human
Tgene		C3468561	familial atrial fibrillation	3	CTD_human
Tgene		C0033578	Prostatic Neoplasms	2	CTD_human
Tgene		C0340543	Familial primary pulmonary hypertension	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene		C0376358	Malignant neoplasm of prostate	2	CTD_human
Tgene		C2675861	Lipodystrophy, Congenital Generalized, Type 3	2	CTD_human;GENOMICS_ENGLAND
Tgene		C3807567	PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME	2	CTD_human;GENOMICS_ENGLAND
Tgene		C0002152	Alloxan Diabetes	1	CTD_human
Tgene		C0011853	Diabetes Mellitus, Experimental	1	CTD_human
Tgene		C0011859	Lipoatrophic Diabetes Mellitus	1	ORPHANET
Tgene		C0014518	Toxic Epidermal Necrolysis	1	CTD_human
Tgene		C0017612	Glaucoma, Open-Angle	1	CTD_human
Tgene		C0018800	Cardiomegaly	1	CTD_human
Tgene		C0020538	Hypertensive disease	1	CTD_human
Tgene		C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene		C0024121	Lung Neoplasms	1	CTD_human
Tgene		C0024623	Malignant neoplasm of stomach	1	CTD_human
Tgene		C0027627	Neoplasm Metastasis	1	CTD_human
Tgene		C0036341	Schizophrenia	1	PSYGENET
Tgene		C0038325	Stevens-Johnson Syndrome	1	CTD_human
Tgene		C0038356	Stomach Neoplasms	1	CTD_human
Tgene		C0038433	Streptozotocin Diabetes	1	CTD_human
Tgene		C0043094	Weight Gain	1	CTD_human
Tgene		C0206138	CREST Syndrome	1	ORPHANET
Tgene		C0221032	Familial generalized lipodystrophy	1	ORPHANET
Tgene		C0242379	Malignant neoplasm of lung	1	CTD_human
Tgene		C0271148	Secondary Open Angle Glaucoma	1	CTD_human
Tgene		C0271694	Familial partial lipodystrophy	1	CTD_human
Tgene		C0339573	Glaucoma, Primary Open Angle	1	CTD_human
Tgene		C0596263	Carcinogenesis	1	CTD_human
Tgene		C0748540	Scleroderma, Limited	1	ORPHANET
Tgene		C0919267	ovarian neoplasm	1	CTD_human
Tgene		C1140680	Malignant neoplasm of ovary	1	CTD_human
Tgene		C1150929	2-oxo-hept-3-ene-1,7-dioate hydratase activity	1	GENOMICS_ENGLAND
Tgene		C1258104	Diffuse Scleroderma	1	ORPHANET
Tgene		C1274933	Drug-Induced Stevens Johnson Syndrome	1	CTD_human
Tgene		C1383860	Cardiac Hypertrophy	1	CTD_human
Tgene		C1701939	Familial pulmonary arterial hypertension	1	ORPHANET
Tgene		C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
Tgene		C1720859	Familial Partial Lipodystrophy, Type 1	1	CTD_human
Tgene		C1720860	Familial Partial Lipodystrophy, Type 2	1	CTD_human
Tgene		C1720861	Familial Partial Lipodystrophy, Type 3	1	CTD_human
Tgene		C2973725	Pulmonary arterial hypertension	1	GENOMICS_ENGLAND
Tgene		C3203102	Idiopathic pulmonary arterial hypertension	1	CTD_human;GENOMICS_ENGLAND
Tgene		C3658301	Mycoplasma-Induced Stevens-Johnson Syndrome	1	CTD_human
Tgene		C3658302	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	1	CTD_human
Tgene		C3809192	PULMONARY HYPERTENSION, PRIMARY, 3	1	GENOMICS_ENGLAND

Fusion Gene Studies in Kim Lab

Fusion gene:NXN-CAV1 (FusionGDB2 ID:HG64359TG857)

Fusion Gene Summary for NXN-CAV1

Fusion Gene ORF analysis for NXN-CAV1

Fusion Genomic Features for NXN-CAV1

Fusion Protein Features for NXN-CAV1

Fusion Gene Sequence for NXN-CAV1

Fusion Gene PPI Analysis for NXN-CAV1

Related Drugs for NXN-CAV1

Related Diseases for NXN-CAV1

Fusion Gene Studies
in Kim Lab