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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SGPP2-CAPN7 (FusionGDB2 ID:81338)

Fusion Gene Summary for SGPP2-CAPN7

check button Fusion gene summary
Fusion gene informationFusion gene name: SGPP2-CAPN7
Fusion gene ID: 81338
HgeneTgene
Gene symbol

SGPP2

CAPN7

Gene ID

130367

23473

Gene namesphingosine-1-phosphate phosphatase 2calpain 7
SynonymsSPP2|SPPase2CALPAIN7|PALBH
Cytomap

2q36.1

3p25.1

Type of geneprotein-codingprotein-coding
Descriptionsphingosine-1-phosphate phosphatase 2sphingosine 1-phosphate phosphohydrolase 2sphingosine-1-phosphatase 2sphingosine-1-phosphate phosphotase 2calpain-7calpain like proteasehomolog of Aspergillus Nidulans PALBpalB homolog
Modification date2020031320200313
UniProtAcc.

Q9Y6W3

Ensembl transtripts involved in fusion geneENST00000321276, ENST00000253693, 
Fusion gene scores* DoF score12 X 7 X 6=5042 X 2 X 2=8
# samples 132
** MAII scorelog2(13/504*10)=-1.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: SGPP2 [Title/Abstract] AND CAPN7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSGPP2(223339445)-CAPN7(15281979), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSGPP2

GO:0006670

sphingosine metabolic process

12411432

TgeneCAPN7

GO:0010634

positive regulation of epithelial cell migration

23855590

TgeneCAPN7

GO:0097264

self proteolysis

20849418


check buttonFusion gene breakpoints across SGPP2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CAPN7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-8363SGPP2chr2

223339445

+CAPN7chr3

15281979

+


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Fusion Gene ORF analysis for SGPP2-CAPN7

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000321276ENST00000253693SGPP2chr2

223339445

+CAPN7chr3

15281979

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000321276SGPP2chr2223339445+ENST00000253693CAPN7chr315281979+3157464861498470

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000321276ENST00000253693SGPP2chr2223339445+CAPN7chr315281979+6.17E-050.99993825

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Fusion Genomic Features for SGPP2-CAPN7


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
SGPP2chr2223339445+CAPN7chr315281979+0.0033657260.9966343
SGPP2chr2223339445+CAPN7chr315281979+0.0033657260.9966343

check buttonDistribution 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.
genomic feature

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for SGPP2-CAPN7


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:223339445/chr3:15281979)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CAPN7

Q9Y6W3

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: Calcium-regulated non-lysosomal thiol-protease. {ECO:0000250}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+2588_108126400.0TransmembraneHelical
TgeneCAPN7chr2:223339445chr3:15281979ENST000002536931121541_701469814.0RegionNote=Domain III
TgeneCAPN7chr2:223339445chr3:15281979ENST000002536931121702_813469814.0RegionNote=Domain N

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25136_144126400.0RegionPhosphatase sequence motif I
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25163_166126400.0RegionPhosphatase sequence motif II
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25206_217126400.0RegionPhosphatase sequence motif III
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25121_141126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25160_180126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25185_205126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25219_239126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25247_267126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25280_300126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25318_338126400.0TransmembraneHelical
HgeneSGPP2chr2:223339445chr3:15281979ENST00000321276+25371_391126400.0TransmembraneHelical
TgeneCAPN7chr2:223339445chr3:15281979ENST000002536931121232_540469814.0DomainCalpain catalytic


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Fusion Gene Sequence for SGPP2-CAPN7


check button 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.
>81338_81338_1_SGPP2-CAPN7_SGPP2_chr2_223339445_ENST00000321276_CAPN7_chr3_15281979_ENST00000253693_length(transcript)=3157nt_BP=464nt
GGCGGGGGCGAGGCGGGAGTGGCGGTGCCAGCGGAGGGCACCGGCCCGGCGTGGCAGCGGCGGCGGAGCGCGGCCCCGGGCACACCATGG
CCGAGCTGCTGCGGAGCCTGCAGGATTCCCAGCTCGTCGCCCGCTTCCAGCGCCGCTGCGGGCTCTTCCCCGCTCCGGATGAAGGCCCCC
GGGAGAACGGCGCGGACCCCACGGAGCGCGCGGCGCGGGTCCCCGGGGTCGAGCATCTCCCCGCAGCCAACGGCAAGGGCGGCGAGGCTC
CGGCCAACGGGCTGCGCAGAGCCGCGGCGCCGGAGGCTTATGTACAGAAGTACGTCGTGAAGAATTATTTCTACTATTACCTATTCCAAT
TTTCAGCTGCTTTGGGCCAAGAAGTGTTCTACATCACGTTTCTTCCATTCACTCACTGGAATATTGACCCTTATTTATCCAGAAGATTGA
TCATCATATGGGTTGGGCTGCGATTTATCCAGTTGAAAAATCCTTGGAGTCATTTACGTTGGAAAGGAAGATACAGTGAAAATGATGTAA
AAAACTGGACTCCAGAGTTGCAAAAGTATTTAAACTTTGATCCCCGAACAGCTCAGAAAATAGACAACGGAATATTTTGGATTTCCTGGG
ATGATCTCTGCCAGTATTATGATGTGATTTATTTGAGTTGGAATCCAGGTCTTTTTAAAGAATCAACATGTATTCACAGTACTTGGGATG
CTAAGCAAGGACCTGTGAAAGATGCCTATAGCCTGGCCAACAACCCCCAGTACAAACTGGAGGTGCAGTGTCCACAGGGGGGTGCTGCAG
TTTGGGTTTTGCTTAGTAGACACATAACAGACAAGGATGATTTTGCGAATAATCGAGAATTTATCACAATGGTTGTATACAAGACTGATG
GGAAAAAAGTTTATTACCCAGCTGACCCACCTCCATACATTGATGGAATTCGAATTAACAGCCCTCATTATTTGACTAAGATAAAGCTGA
CCACACCTGGCACCCATACCTTTACATTAGTGGTTTCTCAATATGAAAAACAGAACACAATCCATTACACGGTTCGGGTATATTCAGCAT
GCAGCTTTACTTTTTCAAAGATTCCTTCACCATACACCTTATCAAAACGGATTAATGGAAAGTGGAGTGGTCAGAGTGCTGGAGGATGTG
GAAATTTCCAAGAGACTCACAAAAATAACCCCATCTACCAATTCCATATAGAAAAGACTGGGCCGTTACTGATTGAGCTACGAGGACCAA
GGCAATATAGCGTTGGATTTGAGGTTGTAACAGTTTCTACTCTAGGAGATCCTGGTCCCCATGGCTTTCTGAGGAAATCTAGTGGTGACT
ATAGGTGTGGGTTTTGCTACCTGGAATTAGAAAATATACCTTCTGGGATCTTCAATATCATTCCTAGTACCTTTTTGCCTAAACAAGAAG
GACCTTTTTTCTTGGACTTTAATAGTATTATCCCCATCAAGATCACACAACTTCAGTGATGGAGAAATCTCAAGTTACTGGCTTTTATAC
TTACCAAACATCAGTTCTTCAAATAAGGACGCAAATCTTCAGGACAGTAAGCAGAACAATCAGAATGGAATTAAATCTCTAAAAACGTGT
TACAGTGGAATCTGGTGCTTGTCAGGGTGTTTGGTAAGAACTGTATATAGTCAGAATTACCTAAATCACCTAGAGGTACCGTTTACATGG
TTTTGTGTATATAGAGTTGGCTTGCATTTTAGGGGCCATTTTGTATAAAAAGTGCATATGATTAAAATTAGACTCAGTCATCACTGTGAG
ATGCCTTTGCTAAGAGGATAAAGGAACTGAGACCAGATGAGAAAAAGAAAGGATATAGATTCCTTGAGTGGAATAGTGGGCTAGATTAAT
ATACCGAAATATTTCCATTGTTTCCCTTTTTTGCAGAGCATGTGGAAGTTAAACCTGCTTGATTCTACTATACATCTTGGGCAACTAGTT
ACCAAATGAATTGTGCCACCATAACTGATTTTAATTTTGCATTATTTATGATTTTAAAATATTTGTTGCCCAGGTGTTATGAAAGAATAA
AGCTTTTAAGTATAGACTACCTTAGCATGAAGATGCTCATGCCTAAGAATGAAAATTGTTGAGGTTATCTCCCATTCAATCATGTAGCAA
GAACTTAAAGAAATTCACTACTGCAGTTTTTATTTTTAAAAAACAGTAATTGAGATATTGAAGACATTACAATTTAGTTTGTGTGGTCTT
TTTTTAAATTGCTGTATCGTTCAGTCTCTTGTGGCAATAGCACTTTGAAGAAAATAGAGAATTTAATATATGGTGATTGGGATATGTAGC
ATTCAAAAAAAGTGAATTGCCAAGATACTGGTGTCATGTAAATTCCCACTTTACATAAAAACCCATCAGGACAGAATGATGCTCAATATT
TTAAAATTCTAAAAATAGGGTGGGATTTTTCATTGTCTCTACTTTATAATTATCAAAACTTATTTTGTATTGCTACTACCTTAAATTGAA
ATAAAATGTTTATACTTACGGATATTGCATAGTTTAAGTTAGATTTATTGAAAGATTTCATCTGTCGTGTTTCATGTAAATGAGAACAGA
TTATTTGCATGAAAATATATACTTCAACAAAAATCTGTTCTTTAACAGAGTAGTGGTAGATTATTACACTAATGAGATTTCACTTTGGTA
AATACTTCATGCTTTCAGTTTTAGCCTATTAATTTTAGGTGGACAAATTTAACAAGTTTTCTGTTACTTTTTAAAAAGAAAAAATCCAGA
ACATAAGAACTATATTATGAACACATGATTTGAACCTGTTGTGGTAAAGATCTTGTACAGGATGCAAACTAAAAACCTAATCCCTGCCAT
CAAATTTATTAGAAGAGACCTATATATGAACAACTTAAAGGCACTGATTTCTATAATAGAGCTCTAAAAACATGCCACCAGTGTATGAAT
AAGGGAAAGATTAATTTTGGCTGGACCAATATAAAAAATTGTATTTGAAGAATTGATACTTTAACTTGGACCTTGAAGGTAAAGCTTCAA
AAGACAGGTTACTGACCATTGAGTGTTTACTATGTACCCAATGTGTATATTTTTCTTTTTAATCTTCCCAATAGCTGAATAAAGTATAGA

>81338_81338_1_SGPP2-CAPN7_SGPP2_chr2_223339445_ENST00000321276_CAPN7_chr3_15281979_ENST00000253693_length(amino acids)=470AA_BP=126
MAELLRSLQDSQLVARFQRRCGLFPAPDEGPRENGADPTERAARVPGVEHLPAANGKGGEAPANGLRRAAAPEAYVQKYVVKNYFYYYLF
QFSAALGQEVFYITFLPFTHWNIDPYLSRRLIIIWVGLRFIQLKNPWSHLRWKGRYSENDVKNWTPELQKYLNFDPRTAQKIDNGIFWIS
WDDLCQYYDVIYLSWNPGLFKESTCIHSTWDAKQGPVKDAYSLANNPQYKLEVQCPQGGAAVWVLLSRHITDKDDFANNREFITMVVYKT
DGKKVYYPADPPPYIDGIRINSPHYLTKIKLTTPGTHTFTLVVSQYEKQNTIHYTVRVYSACSFTFSKIPSPYTLSKRINGKWSGQSAGG
CGNFQETHKNNPIYQFHIEKTGPLLIELRGPRQYSVGFEVVTVSTLGDPGPHGFLRKSSGDYRCGFCYLELENIPSGIFNIIPSTFLPKQ

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

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Fusion Gene PPI Analysis for SGPP2-CAPN7


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for SGPP2-CAPN7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SGPP2-CAPN7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource