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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:PRPF8-SPNS2 (FusionGDB2 ID:69080)

Fusion Gene Summary for PRPF8-SPNS2

Fusion gene summary

Fusion gene information	Fusion gene name: PRPF8-SPNS2
	Fusion gene ID: 69080
		Hgene	Tgene
	Gene symbol	PRPF8	SPNS2
	Gene ID	10594	124976
	Gene name	pre-mRNA processing factor 8	sphingolipid transporter 2
	Synonyms	HPRP8\|PRP8\|PRPC8\|RP13\|SNRNP220	DFNB115\|SLC62A2
	Cytomap	17p13.3	17p13.2
	Type of gene	protein-coding	protein-coding
	Description	pre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologPRP8 pre-mRNA processing factor 8 homologU5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8papoptosis-regulated protein 1apoptosis-regulated protein 2	protein spinster homolog 2SPNS sphingolipid transporter 2spinster homolog 2
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000572621, ENST00000304992, ENST00000575116,	ENST00000329078,
Fusion gene scores	* DoF score	13 X 16 X 7=1456	4 X 4 X 3=48
	# samples	16	4
	** MAII score	log2(16/1456*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PRPF8 [Title/Abstract] AND SPNS2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PRPF8(1561546)-SPNS2(4428351), # samples:1
Anticipated loss of major functional domain due to fusion event.	PRPF8-SPNS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. PRPF8-SPNS2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	PRPF8	GO:0000244	spliceosomal tri-snRNP complex assembly	20595234
Hgene	PRPF8	GO:0000398	mRNA splicing, via spliceosome	28781166\|29301961
Tgene	SPNS2	GO:0006869	lipid transport	21084291

Fusion gene breakpoints across PRPF8 (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 SPNS2 (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	BRCA	TCGA-AC-A2FO	PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+

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Fusion Gene ORF analysis for PRPF8-SPNS2

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
Frame-shift	ENST00000572621	ENST00000329078	PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+
In-frame	ENST00000304992	ENST00000329078	PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+
intron-3CDS	ENST00000575116	ENST00000329078	PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+

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)

ENST00000304992

PRPF8

chr17

1561546

ENST00000329078

SPNS2

chr17

4428351

8420

5619

5690

1893

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
ENST00000304992	ENST00000329078	PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+	0.001590402	0.99840957

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Fusion Genomic Features for PRPF8-SPNS2

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)
PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+	2.57E-09	1
PRPF8	chr17	1561546	-	SPNS2	chr17	4428351	+	2.57E-09	1

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PRPF8-SPNS2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:1561546/chr17:4428351)
- 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

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000304992

1304_1577

1835

2336.0

Region

Note=Linker

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000304992

1513_1526

1835

2336.0

Region

Important for branch point selection

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000304992

1581_1752

1835

2336.0

Region

Note=Restriction endonuclease homology domain

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000304992

812_1303

1835

2336.0

Region

Note=Reverse transcriptase homology domain

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000572621

1304_1577

1835

2336.0

Region

Note=Linker

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000572621

1513_1526

1835

2336.0

Region

Important for branch point selection

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000572621

1581_1752

1835

2336.0

Region

Note=Restriction endonuclease homology domain

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000572621

812_1303

1835

2336.0

Region

Note=Reverse transcriptase homology domain

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

169_189

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

202_222

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

229_249

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

261_281

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

320_340

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

364_384

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

398_418

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

422_442

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

466_486

145

884.3333333333334

Transmembrane

Helical

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

507_527

145

884.3333333333334

Transmembrane

Helical

- 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

PRPF8

chr17:1561546

chr17:4428351

ENST00000304992

2103_2234

1835

2336.0

Domain

MPN

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000572621

2103_2234

1835

2336.0

Domain

MPN

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000304992

1767_2020

1835

2336.0

Region

Note=RNase H homology domain

Hgene

PRPF8

chr17:1561546

chr17:4428351

ENST00000572621

1767_2020

1835

2336.0

Region

Note=RNase H homology domain

Tgene

SPNS2

chr17:1561546

chr17:4428351

ENST00000329078

141_161

145

884.3333333333334

Transmembrane

Helical

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Fusion Gene Sequence for PRPF8-SPNS2

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.

>69080_69080_1_PRPF8-SPNS2_PRPF8_chr17_1561546_ENST00000304992_SPNS2_chr17_4428351_ENST00000329078_length(transcript)=8420nt_BP=5619nt
GAACTCGGGTTGCGCACTTCCCGGCGCTGGGAACGCGGAGCGGACGCAGTCTGGCCGCCATTGCGCTGCGGGGAAAGCGGCCTCTTGTGT
GAGGGCCTGTGGGATTCTCCGGATATGGCCGGAGTGTTTCCTTATCGAGGGCCGGGTAACCCGGTGCCTGGCCCTCTAGCCCCGCTACCG
GACTACATGTCGGAGGAGAAGCTGCAGGAGAAAGCTCGAAAATGGCAGCAATTGCAGGCCAAGCGCTATGCAGAAAAGCGGAAGTTTGGG
TTTGTGGATGCCCAGAAGGAAGACATGCCCCCAGAACATGTCAGGAAGATCATTCGAGACCATGGAGACATGACCAACAGGAAGTTCCGC
CATGACAAAAGGGTTTACTTGGGTGCCCTAAAGTACATGCCCCACGCAGTCCTCAAACTCCTGGAGAACATGCCTATGCCTTGGGAGCAG
ATTCGGGATGTGCCTGTGCTGTACCACATCACTGGAGCCATTTCCTTCGTCAATGAGATTCCCTGGGTCATTGAACCTGTCTACATCTCC
CAGTGGGGGTCAATGTGGATTATGATGCGCCGAGAAAAAAGAGATAGGAGGCATTTCAAGAGGATGCGTTTTCCCCCTTTTGATGATGAG
GAGCCGCCCTTGGACTATGCTGACAACATCCTAGATGTTGAGCCACTGGAGGCCATTCAGCTAGAGCTGGACCCTGAGGAGGACGCCCCT
GTGTTGGACTGGTTCTATGACCACCAGCCGTTGAGGGACAGCAGGAAGTATGTAAATGGCTCCACTTACCAGCGCTGGCAGTTCACACTA
CCTATGATGTCGACTCTCTACCGCCTGGCTAATCAGCTCCTGACAGACTTGGTGGATGACAACTACTTCTACCTGTTTGATTTGAAGGCC
TTCTTTACGTCCAAGGCACTCAATATGGCCATTCCTGGAGGCCCCAAATTTGAACCTCTTGTTCGAGACATCAACCTACAGGATGAAGAC
TGGAATGAATTCAATGATATTAACAAGATTATCATCCGGCAGCCTATCCGCACTGAGTACAAGATTGCTTTTCCTTACTTGTACAACAAT
CTTCCACACCATGTCCACCTCACCTGGTACCATACTCCCAATGTTGTATTCATCAAAACTGAGGATCCTGACTTGCCAGCTTTCTACTTT
GACCCTTTGATCAACCCAATCTCCCATAGGCACTCAGTCAAGAGCCAGGAACCATTGCCGGATGATGATGAGGAATTTGAGCTCCCGGAG
TTTGTGGAGCCCTTCCTGAAGGACACACCCCTCTATACAGACAATACAGCCAATGGCATTGCCCTGCTCTGGGCCCCGCGGCCCTTCAAC
CTACGCTCTGGTCGCACCCGTCGGGCCCTGGACATACCCCTTGTCAAGAACTGGTATCGGGAGCATTGTCCTGCCGGGCAGCCTGTGAAA
GTGAGGGTCTCCTACCAGAAGCTGCTTAAGTACTATGTGCTGAATGCCCTGAAGCATCGGCCCCCTAAGGCTCAAAAGAAGAGGTATTTG
TTCCGCTCCTTCAAAGCCACCAAATTCTTTCAGTCCACAAAGCTGGACTGGGTGGAGGTTGGGCTCCAGGTTTGCCGCCAGGGCTACAAC
ATGCTCAACCTTCTCATTCACCGCAAAAACCTCAACTACCTGCACCTGGACTACAACTTCAACCTCAAGCCTGTGAAAACGCTCACCACC
AAGGAAAGAAAGAAATCTCGTTTTGGGAATGCTTTCCACCTGTGTCGGGAAGTTCTGCGTTTGACTAAGCTGGTGGTGGATAGTCACGTG
CAGTATCGGCTGGGCAATGTGGATGCCTTCCAGCTGGCAGATGGATTGCAGTATATATTTGCCCATGTTGGGCAGTTGACGGGCATGTAT
CGATACAAATACAAGCTGATGCGACAGATTCGCATGTGCAAGGACCTGAAGCATCTCATCTATTATCGTTTCAACACGGGCCCTGTAGGG
AAGGGTCCTGGCTGTGGCTTCTGGGCTGCCGGTTGGCGAGTCTGGCTCTTTTTCATGCGTGGCATTACCCCTTTATTAGAGCGATGGCTT
GGCAACCTCCTGGCCCGGCAGTTTGAAGGTCGACACTCAAAGGGGGTGGCAAAGACAGTAACAAAGCAGCGAGTGGAGTCACATTTTGAC
CTTGAGCTGCGGGCAGCTGTGATGCATGATATTCTGGACATGATGCCTGAGGGGATCAAGCAGAACAAGGCCCGGACAATCCTGCAGCAC
CTCAGTGAAGCCTGGCGCTGCTGGAAAGCCAACATTCCCTGGAAGGTCCCTGGGCTGCCGACGCCCATAGAGAATATGATCCTTCGATAC
GTGAAGGCCAAGGCTGACTGGTGGACCAACACTGCCCACTACAACCGAGAACGGATCCGCCGAGGGGCCACTGTGGACAAGACTGTTTGT
AAAAAGAATCTGGGCCGCCTCACCCGGCTCTATCTGAAGGCAGAACAGGAGCGGCAGCACAACTACCTGAAGGACGGGCCTTACATCACA
GCGGAGGAAGCAGTGGCAGTATATACCACCACAGTGCATTGGTTGGAAAGCCGCAGGTTTTCACCCATCCCATTCCCCCCACTCTCCTAT
AAGCATGACACCAAGTTGCTCATCTTGGCATTGGAGCGGCTCAAGGAAGCTTATAGTGTGAAGTCTCGGTTGAACCAGTCTCAGAGGGAG
GAGCTAGGTCTGATCGAGCAGGCCTACGATAACCCCCACGAGGCGCTGTCCCGCATCAAGCGTCACCTCCTCACACAGAGAGCCTTCAAA
GAGGTGGGCATTGAGTTCATGGATCTGTATAGCCACCTCGTTCCAGTATATGATGTTGAGCCCCTGGAGAAGATAACTGATGCTTACCTG
GACCAGTACCTGTGGTATGAAGCCGACAAGCGCCGCCTGTTCCCACCCTGGATTAAGCCTGCAGACACAGAACCACCTCCGCTGCTTGTT
TACAAGTGGTGTCAAGGCATCAATAACCTGCAGGACGTGTGGGAGACGAGTGAAGGCGAGTGCAATGTCATGCTGGAATCCCGCTTTGAG
AAGATGTATGAGAAGATCGACTTGACTCTGCTCAACAGGCTGCTGCGCCTCATCGTGGACCACAACATAGCCGACTACATGACAGCCAAG
AACAACGTCGTCATCAACTATAAGGACATGAACCATACGAATTCATATGGGATCATCAGAGGCCTGCAGTTTGCCTCATTCATCGTGCAG
TATTATGGCCTGGTGATGGATTTGCTTGTATTGGGATTGCACCGGGCCAGTGAGATGGCTGGGCCCCCTCAGATGCCAAATGACTTTCTC
AGTTTCCAGGACATAGCCACTGAGGCTGCCCACCCCATCCGTCTCTTCTGCAGATACATTGATCGCATCCATATTTTTTTCAGGTTCACA
GCAGATGAGGCTCGGGACCTGATTCAACGTTACCTGACAGAGCACCCTGACCCCAATAATGAAAACATCGTTGGCTATAATAACAAGAAG
TGCTGGCCCCGAGATGCCCGCATGCGCCTCATGAAACATGATGTTAACTTAGGCCGGGCGGTATTCTGGGACATCAAGAACCGCTTGCCA
CGGTCAGTGACTACAGTTCAGTGGGAGAACAGCTTCGTGTCTGTGTACAGTAAGGACAACCCCAACCTGCTGTTCAACATGTGTGGCTTC
GAGTGCCGCATCCTGCCTAAGTGCCGCACCAGCTATGAGGAGTTCACCCACAAGGACGGGGTCTGGAACCTGCAGAATGAGGTTACTAAG
GAGCGCACAGCTCAGTGTTTCCTGCGTGTGGACGATGAGTCAATGCAGCGCTTCCACAACCGCGTGCGTCAGATTCTCATGGCCTCTGGG
TCCACCACCTTCACCAAGATTGTGAATAAGTGGAATACAGCTCTCATTGGCCTTATGACATACTTTCGGGAGGCTGTGGTGAACACCCAA
GAGCTCTTGGACTTACTGGTGAAGTGTGAGAACAAAATCCAGACACGTATCAAGATTGGACTCAACTCCAAGATGCCAAGTCGGTTCCCC
CCGGTTGTGTTCTACACCCCTAAGGAGTTGGGTGGACTCGGCATGCTCTCAATGGGCCATGTGCTCATCCCCCAATCCGACCTCAGGTGG
TCCAAACAGACAGATGTAGGTATCACACACTTTCGTTCAGGAATGAGCCATGAAGAAGACCAGCTCATTCCCAACTTGTACCGCTACATA
CAGCCATGGGAGAGCGAGTTCATTGATTCTCAGCGGGTCTGGGCTGAGTACGCACTCAAGAGGCAAGAGGCCATTGCTCAGAACAGACGC
CTGACTTTAGAAGACCTAGAAGATTCATGGGATCGTGGCATTCCTCGAATCAATACCCTCTTCCAGAAGGACCGGCACACACTGGCTTAT
GATAAGGGCTGGCGTGTCAGAACTGACTTTAAGCAGTATCAGGTTTTGAAGCAGAATCCGTTCTGGTGGACACACCAGCGGCATGATGGG
AAGCTCTGGAACCTGAACAACTACCGTACAGACATGATCCAGGCCCTGGGCGGTGTGGAAGGCATTCTGGAACACACACTCTTTAAGGGC
ACTTACTTCCCTACCTGGGAGGGGCTTTTCTGGGAGAAGGCCAGTGGCTTTGAGGAATCTATGAAGTGGAAGAAGCTAACTAATGCTCAG
CGATCAGGACTGAACCAGATTCCCAATCGTAGATTCACCCTCTGGTGGTCCCCGACCATTAATCGAGCCAATGTATATGTAGGCTTTCAG
GTGCAGCTAGACCTGACGGGTATCTTCATGCACGGCAAGATCCCCACGCTGAAGATCTCTCTCATCCAGATCTTCCGAGCTCACTTGTGG
CAGAAGATCCATGAGAGCATTGTTATGGACTTATGTCAGGTGTTTGACCAGGAACTTGATGCACTGGAAATTGAGACAGTACAAAAGGAG
ACAATCCATCCCCGAAAGTCATATAAGATGAACTCTTCCTGTGCAGATATCCTGCTCTTTGCCTCCTATAAGTGGAATGTCTCCCGGCCC
TCATTGCTGGCTGACTCCAAGGATGTGATGGACAGCACCACCACCCAGAAATACTGGATTGACATCCAGTTGCGCTGGGGGGACTATGAT
TCCCACGACATTGAGCGCTACGCCCGGGCCAAGTTCCTGGACTACACCACCGACAACATGAGTATCTACCCTTCGCCCACAGGTGTACTC
ATCGCCATTGACCTGGCCTATAACTTGCACAGTGCCTATGGAAACTGGTTCCCAGGCAGCAAGCCTCTCATACAACAGGCCATGGCCAAG
ATCATGAAGGCAAACCCTGCCCTGTATGTGTTACGTGAACGGATCCGCAAGGGGCTACAGCTCTATTCATCTGAACCCACTGAGCCTTAT
TTGTCTTCTCAGAACTATGGTGAGCTCTTCTCCAACCAGATTATCTGGTTTGTGGATGACACCAACGTCTACAGAGTGACTATTCACAAG
ACCTTTGAAGGGAACTTGACAACCAAGCCCATCAACGGAGCCATCTTCATCTTCAACCCACGCACAGGGCAGCTGTTCCTCAAGATAATC
CACACGTCCGTGTGGGCGGGACAGAAGCGTTTGGGGCAGTGTTCATCTGTAGCTTCATGGTGGCTGCCCCCATCTTCGGCTACCTGGGCG
ACCGCTTCAACAGGAAGGTGATTCTCAGCTGCGGCATTTTCTTCTGGTCGGCCGTCACCTTCTCCAGCTCCTTCATTCCCCAGCAGTACT
TCTGGCTGCTGGTCCTGTCCCGGGGGCTGGTGGGCATCGGGGAGGCCAGCTACTCCACCATCGCCCCCACTATCATTGGCGACCTCTTCA
CCAAGAACACGCGTACGCTCATGCTGTCCGTCTTCTACTTCGCCATCCCACTGGGCAGTGGCCTGGGCTACATTACTGGCTCCAGCGTGA
AGCAGGCAGCCGGAGACTGGCACTGGGCATTGCGGGTGTCCCCTGTCCTGGGCATGATCACAGGAACACTCATCCTCATTCTGGTCCCAG
CCACTAAAAGGGGTCATGCCGACCAGCTCGGGGACCAGCTCAAGGCCCGGACCTCATGGCTCCGAGATATGAAGGCCCTGATTCGAAACC
GCAGCTACGTCTTCTCCTCCCTGGCCACGTCGGCTGTCTCCTTCGCCACGGGGGCCCTGGGCATGTGGATCCCGCTCTACCTGCACCGCG
CCCAAGTTGTGCAGAAGACAGCAGAGACGTGCAACAGCCCGCCCTGTGGGGCCAAGGACAGCCTCATCTTTGGGGCCATCACCTGCTTTA
CGGGATTTCTGGGCGTGGTCACGGGGGCAGGAGCCACGCGCTGGTGCCGCCTGAAGACCCAGCGGGCCGACCCACTGGTGTGTGCCGTGG
GCATGCTGGGCTCTGCCATCTTCATCTGCCTGATCTTCGTGGCTGCCAAGAGCAGCATCGTAGGAGCCTATATCTGTATCTTCGTCGGGG
AGACGCTGCTGTTTTCTAACTGGGCCATCACTGCAGACATCCTCATGTACGTGGTCATCCCCACGCGGCGCGCCACTGCCGTGGCCTTGC
AGAGCTTCACCTCCCACCTGCTGGGGGACGCCGGGAGCCCCTACCTCATTGGCTTTATCTCAGACCTGATCCGCCAGAGCACTAAGGACT
CCCCGCTCTGGGAGTTCCTGAGCCTGGGCTACGCGCTCATGCTCTGCCCTTTCGTCGTGGTCCTGGGCGGCATGTTCTTCCTCGCCACTG
CGCTCTTCTTCGTCAGCGACCGCGCCAGGGCTGAGCAGCAGGTGAACCAGCTGGCGATGCCGCCCGCATCTGTGAAAGTCTGAGGTGGTG
CCATTGGGACAATGAAGAACCCACACTCCCACCTCGTCTGGGAGGTGTCCTACAGCGTCCGGGACCGGCTGGGCTGCCCCAAAGCTTTCT
GTGTGATCCACGGCTAGGCACCCACCCTCTCTGGCCCAGGCCTGCTGAGTGGCCCTGGCATCAAGAAGAGGCTGTGTCCTCAGTTACCCT
GGAAGGATGTGTGTGTTGGAGCCACACGGTTGGACAGGTTCCCAGCCCTAGGTTTGGGCCGCAGGGCCCCTGGGGCCAAGGAAGAAGACA
GCCCCAAGTGGGTGTCCGGGGAGAGCCTGGCCTGCCACCAGCTTATGTGATCTTGGGCAAGTCCCTGCCCTCCCTGGAACGAAGGGCCAG
GGGGCTGGACTTTCCCACACAACTTGCTGGGCAAAGCACGATCTGCAGCTTTGAAGACTCAACAGACCCTGGACCATACGGAGAGCAGGT
GGCCCAGGCCTCAGGGCGGCAGTCCCGGCTTTGAGGCTCACGCGAGGGCCTGGTATGCAGGGACCACTGCTCAGCTGGGCCTCGGACCTT
GGGGATATTGGACGCAACCTGGCAAATGAAGCTGGGCGCCCAAGTCTCTGGGTACTCCCTGGAGGACACTGTCTCACTGTCTCGGGTTGG
CTCCCAGCCTGGAGGTCCCAGATGGGGACTGTTCTGACAAGCTGGCATCACCAGGGGTGAAGGCCCTGGCTGCAGCTGTACACCACCTGT
GCCCCCAGGCTCAAGGTCTCTGGCAGGTGCACACCAGCCCAACTCTGCAGGGCTTCTCTCCCTGCCACCACCCCCCAAGCCAGGACCCCA
CTCCTTCCCCGAGGCTGAGCTGAGCCTTTTCCAGGGGCAGGGCCCAGGAGACCATTCCCAGAATCCATGGGGCAGTAGCCAGGGCTCCGG
CTGCTGGAGGAAGCAGCTATCCACAAAGCTTCCTGCCCCAGAGCTGAGGCTGAGGCCCCGGGAGAGGCGGCCCCTACCCAAACACTGGCT
GCTGGCATTCCACCAAGTGACCCCAGGGGGGGGCCAGGCCTTCGATCACCCACCTCCCATCCATGCACACACCAGGATGCAGCTGCCAAC
TTCACACCAGCCCCAACCCGCTTTGGGGGAGCTTAGCCCCCTGCGTCACCCACTCCCTGCACTTCTGCTGCAATCAAGGTGGTTCTGGTG
CGGGGGTGGGGTGGGGGGTGAGGCCTTGTGGCCAATGGGGGACCCCCCAAGAGCCAGCTTGGACAATGCTCTTCTTGCCCCTTAGTTACT
GGCTGGCTGTGGCTTCAGTGGTGTGTAAGCAGGTGGAATACTCACCCACCAAGCTCTGGGGTACCCCGAGGGCCTGACAAGAGGATGGGG
TGGGGGTGGCATCCTCCAAAGACCAGCCTCCACCCCCACTCCAGCCTCAGCGGGGCCCCAGCGATGTTTTCTTGTTGTACAAGAACCAGG
TCCGAGTGTTGCCTCCTCTTCCTTCCGGAAGCCAAACTGCTCCTTTATTTTTTAGAGCTGCTGATTGTGAATCTCAGAGTCTTAAGAGAG

>69080_69080_1_PRPF8-SPNS2_PRPF8_chr17_1561546_ENST00000304992_SPNS2_chr17_4428351_ENST00000329078_length(amino acids)=1893AA_BP=1869
MRTSRRWERGADAVWPPLRCGESGLLCEGLWDSPDMAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVD
AQKEDMPPEHVRKIIRDHGDMTNRKFRHDKRVYLGALKYMPHAVLKLLENMPMPWEQIRDVPVLYHITGAISFVNEIPWVIEPVYISQWG
SMWIMMRREKRDRRHFKRMRFPPFDDEEPPLDYADNILDVEPLEAIQLELDPEEDAPVLDWFYDHQPLRDSRKYVNGSTYQRWQFTLPMM
STLYRLANQLLTDLVDDNYFYLFDLKAFFTSKALNMAIPGGPKFEPLVRDINLQDEDWNEFNDINKIIIRQPIRTEYKIAFPYLYNNLPH
HVHLTWYHTPNVVFIKTEDPDLPAFYFDPLINPISHRHSVKSQEPLPDDDEEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRS
GRTRRALDIPLVKNWYREHCPAGQPVKVRVSYQKLLKYYVLNALKHRPPKAQKKRYLFRSFKATKFFQSTKLDWVEVGLQVCRQGYNMLN
LLIHRKNLNYLHLDYNFNLKPVKTLTTKERKKSRFGNAFHLCREVLRLTKLVVDSHVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYK
YKLMRQIRMCKDLKHLIYYRFNTGPVGKGPGCGFWAAGWRVWLFFMRGITPLLERWLGNLLARQFEGRHSKGVAKTVTKQRVESHFDLEL
RAAVMHDILDMMPEGIKQNKARTILQHLSEAWRCWKANIPWKVPGLPTPIENMILRYVKAKADWWTNTAHYNRERIRRGATVDKTVCKKN
LGRLTRLYLKAEQERQHNYLKDGPYITAEEAVAVYTTTVHWLESRRFSPIPFPPLSYKHDTKLLILALERLKEAYSVKSRLNQSQREELG
LIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMDLYSHLVPVYDVEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKW
CQGINNLQDVWETSEGECNVMLESRFEKMYEKIDLTLLNRLLRLIVDHNIADYMTAKNNVVINYKDMNHTNSYGIIRGLQFASFIVQYYG
LVMDLLVLGLHRASEMAGPPQMPNDFLSFQDIATEAAHPIRLFCRYIDRIHIFFRFTADEARDLIQRYLTEHPDPNNENIVGYNNKKCWP
RDARMRLMKHDVNLGRAVFWDIKNRLPRSVTTVQWENSFVSVYSKDNPNLLFNMCGFECRILPKCRTSYEEFTHKDGVWNLQNEVTKERT
AQCFLRVDDESMQRFHNRVRQILMASGSTTFTKIVNKWNTALIGLMTYFREAVVNTQELLDLLVKCENKIQTRIKIGLNSKMPSRFPPVV
FYTPKELGGLGMLSMGHVLIPQSDLRWSKQTDVGITHFRSGMSHEEDQLIPNLYRYIQPWESEFIDSQRVWAEYALKRQEAIAQNRRLTL
EDLEDSWDRGIPRINTLFQKDRHTLAYDKGWRVRTDFKQYQVLKQNPFWWTHQRHDGKLWNLNNYRTDMIQALGGVEGILEHTLFKGTYF
PTWEGLFWEKASGFEESMKWKKLTNAQRSGLNQIPNRRFTLWWSPTINRANVYVGFQVQLDLTGIFMHGKIPTLKISLIQIFRAHLWQKI
HESIVMDLCQVFDQELDALEIETVQKETIHPRKSYKMNSSCADILLFASYKWNVSRPSLLADSKDVMDSTTTQKYWIDIQLRWGDYDSHD
IERYARAKFLDYTTDNMSIYPSPTGVLIAIDLAYNLHSAYGNWFPGSKPLIQQAMAKIMKANPALYVLRERIRKGLQLYSSEPTEPYLSS
QNYGELFSNQIIWFVDDTNVYRVTIHKTFEGNLTTKPINGAIFIFNPRTGQLFLKIIHTSVWAGQKRLGQCSSVASWWLPPSSATWATAS

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Top

Fusion Gene PPI Analysis for PRPF8-SPNS2

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

Top

Related Drugs for PRPF8-SPNS2

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 PRPF8-SPNS2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source