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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:FRS2-NUP107 (FusionGDB2 ID:31341)

Fusion Gene Summary for FRS2-NUP107

check button Fusion gene summary
Fusion gene informationFusion gene name: FRS2-NUP107
Fusion gene ID: 31341
HgeneTgene
Gene symbol

FRS2

NUP107

Gene ID

10818

57122

Gene namefibroblast growth factor receptor substrate 2nucleoporin 107
SynonymsFRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1NPHS11|NUP84|ODG6|ODG6; GAMOS7
Cytomap

12q15

12q15

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTepididymis secretory sperm binding proteinsuc1-associated neurotrophic factor target 1nuclear pore complex protein Nup107nucleoporin 107kDa
Modification date2020031320200313
UniProtAcc.

P57740

Ensembl transtripts involved in fusion geneENST00000299293, ENST00000549921, 
ENST00000550389, ENST00000397997, 
ENST00000229179, ENST00000378905, 
ENST00000539906, ENST00000401003, 
Fusion gene scores* DoF score71 X 15 X 14=1491027 X 22 X 9=5346
# samples 7337
** MAII scorelog2(73/14910*10)=-4.35223998340343
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(37/5346*10)=-3.85286266172677
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRS2 [Title/Abstract] AND NUP107 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFRS2(69925836)-NUP107(69135593), # samples:2
FRS2(69864310)-NUP107(69135593), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneNUP107

GO:0006406

mRNA export from nucleus

11684705


check buttonFusion gene breakpoints across FRS2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NUP107 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BLCATCGA-GC-A3RDFRS2chr12

69925836

+NUP107chr12

69135592

+
ChimerDB4BLCATCGA-GC-A3RD-01AFRS2chr12

69925836

+NUP107chr12

69135593

+
ChimerDB4BLCATCGA-GC-A3RD-01AFRS2chr12

69931763

+NUP107chr12

69135593

+
ChimerDB4SARCTCGA-DX-A3U6-01AFRS2chr12

69864310

+NUP107chr12

69135593

+
ChimerDB4SARCTCGA-DX-A3U6-01AFRS2chr12

69864310

-NUP107chr12

69135593

+
ChimerDB4BLCATCGA-GC-A3RD-01AFRS2chr12

69925836

-NUP107chr12

69135593

+


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Fusion Gene ORF analysis for FRS2-NUP107

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
5UTR-3CDSENST00000299293ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000299293ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000299293ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-intronENST00000299293ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000549921ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000549921ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000549921ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-intronENST00000549921ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135592

+
intron-3CDSENST00000550389ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135592

+
intron-3CDSENST00000550389ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135592

+
intron-3CDSENST00000550389ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135592

+
intron-intronENST00000550389ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000397997ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000397997ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000397997ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-intronENST00000397997ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135592

+
5UTR-3CDSENST00000299293ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-intronENST00000299293ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000549921ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000549921ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000549921ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-intronENST00000549921ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135593

+
intron-3CDSENST00000550389ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135593

+
intron-3CDSENST00000550389ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135593

+
intron-3CDSENST00000550389ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135593

+
intron-intronENST00000550389ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000397997ENST00000229179FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000397997ENST00000378905FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000397997ENST00000539906FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-intronENST00000397997ENST00000401003FRS2chr12

69925836

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000229179FRS2chr12

69931763

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000378905FRS2chr12

69931763

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000539906FRS2chr12

69931763

+NUP107chr12

69135593

+
5UTR-intronENST00000299293ENST00000401003FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000549921ENST00000229179FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000549921ENST00000378905FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000549921ENST00000539906FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-intronENST00000549921ENST00000401003FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000550389ENST00000229179FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000550389ENST00000378905FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000550389ENST00000539906FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-intronENST00000550389ENST00000401003FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000397997ENST00000229179FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000397997ENST00000378905FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-3CDSENST00000397997ENST00000539906FRS2chr12

69931763

+NUP107chr12

69135593

+
intron-intronENST00000397997ENST00000401003FRS2chr12

69931763

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000229179FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000378905FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000299293ENST00000539906FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-intronENST00000299293ENST00000401003FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000549921ENST00000229179FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000549921ENST00000378905FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000549921ENST00000539906FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-intronENST00000549921ENST00000401003FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000550389ENST00000229179FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000550389ENST00000378905FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-3CDSENST00000550389ENST00000539906FRS2chr12

69864310

+NUP107chr12

69135593

+
5UTR-intronENST00000550389ENST00000401003FRS2chr12

69864310

+NUP107chr12

69135593

+
intron-3CDSENST00000397997ENST00000229179FRS2chr12

69864310

+NUP107chr12

69135593

+
intron-3CDSENST00000397997ENST00000378905FRS2chr12

69864310

+NUP107chr12

69135593

+
intron-3CDSENST00000397997ENST00000539906FRS2chr12

69864310

+NUP107chr12

69135593

+
intron-intronENST00000397997ENST00000401003FRS2chr12

69864310

+NUP107chr12

69135593

+

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)

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

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Fusion Genomic Features for FRS2-NUP107


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)
FRS2chr1269931763+NUP107chr1269135592+2.89E-070.99999976
FRS2chr1269925836+NUP107chr1269135592+5.61E-091
FRS2chr1269925836+NUP107chr1269135592+5.61E-091
FRS2chr1269864310+NUP107chr1269135592+7.03E-091
FRS2chr1269931763+NUP107chr1269135592+2.89E-070.99999976
FRS2chr1269925836+NUP107chr1269135592+5.61E-091
FRS2chr1269925836+NUP107chr1269135592+5.61E-091
FRS2chr1269864310+NUP107chr1269135592+7.03E-091

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.

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.

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Fusion Protein Features for FRS2-NUP107


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.NUP107

P57740

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: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12552102, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:30179222}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FRS2-NUP107


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.

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Fusion Gene PPI Analysis for FRS2-NUP107


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 FRS2-NUP107


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 FRS2-NUP107


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNUP107C4225228NEPHROTIC SYNDROME, TYPE 112CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNUP107C0018051Gonadal Dysgenesis1GENOMICS_ENGLAND
TgeneNUP107C0685837Pure Gonadal Dysgenesis, 46, XX1ORPHANET
TgeneNUP107C0795949Galloway Mowat syndrome1ORPHANET
TgeneNUP107C0949595Gonadal Dysgenesis, 46,XX1ORPHANET
TgeneNUP107C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1ORPHANET
TgeneNUP107C4748084OVARIAN DYSGENESIS 61UNIPROT