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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:NUP160-RPS6 (FusionGDB2 ID:60624)

Fusion Gene Summary for NUP160-RPS6

check button Fusion gene summary
Fusion gene informationFusion gene name: NUP160-RPS6
Fusion gene ID: 60624
HgeneTgene
Gene symbol

NUP160

RPS6

Gene ID

23279

6194

Gene namenucleoporin 160ribosomal protein S6
SynonymsNPHS19S6
Cytomap

11p11.2

9p22.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear pore complex protein Nup160160 kDa nucleoporinnucleoporin 160kDnucleoporin 160kDanucleoporin Nup16040S ribosomal protein S6phosphoprotein NP33small ribosomal subunit protein eS6
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000378460, ENST00000530326, 
ENST00000528071, ENST00000528501, 
ENST00000531016, ENST00000532747, 
ENST00000526870, 		ENST00000380394, 
ENST00000498815, ENST00000380384, 
ENST00000315377, ENST00000380381, 
Fusion gene scores* DoF score9 X 8 X 6=43215 X 15 X 4=900
# samples 1117
** MAII scorelog2(11/432*10)=-1.97352778863881
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/900*10)=-2.40439025507934
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NUP160 [Title/Abstract] AND RPS6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNUP160(47800689)-RPS6(19378842), # 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
HgeneNUP160

GO:0006406

mRNA export from nucleus

11684705

TgeneRPS6

GO:0031929

TOR signaling

16428328

TgeneRPS6

GO:0043065

positive regulation of apoptotic process

18362888


check buttonFusion gene breakpoints across NUP160 (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 RPS6 (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
ChiTaRS5.0N/ABG874971NUP160chr11

47800689

+RPS6chr9

19378842

-


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Fusion Gene ORF analysis for NUP160-RPS6

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
intron-3CDSENST00000378460ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000378460ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000378460ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000378460ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000378460ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3CDSENST00000530326ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000530326ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000530326ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000530326ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000530326ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3CDSENST00000528071ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000528071ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000528071ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000528071ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000528071ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3CDSENST00000528501ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000528501ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000528501ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000528501ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000528501ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3CDSENST00000531016ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000531016ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000531016ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000531016ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000531016ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3CDSENST00000532747ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000532747ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000532747ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000532747ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000532747ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3CDSENST00000526870ENST00000380394NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000526870ENST00000498815NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000526870ENST00000380384NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-intronENST00000526870ENST00000315377NUP160chr11

47800689

+RPS6chr9

19378842

-
intron-3UTRENST00000526870ENST00000380381NUP160chr11

47800689

+RPS6chr9

19378842

-

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 NUP160-RPS6


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)

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 NUP160-RPS6


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
..
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: 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.

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 NUP160-RPS6


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 NUP160-RPS6


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 NUP160-RPS6


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 NUP160-RPS6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUP160C4748552NEPHROTIC SYNDROME, TYPE 192GENOMICS_ENGLAND;UNIPROT
HgeneNUP160C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1ORPHANET
TgeneRPS6C0006142Malignant neoplasm of breast1CTD_human
TgeneRPS6C0024623Malignant neoplasm of stomach1CTD_human
TgeneRPS6C0038356Stomach Neoplasms1CTD_human
TgeneRPS6C0235874Disease Exacerbation1CTD_human
TgeneRPS6C0678222Breast Carcinoma1CTD_human
TgeneRPS6C1257931Mammary Neoplasms, Human1CTD_human
TgeneRPS6C1458155Mammary Neoplasms1CTD_human
TgeneRPS6C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneRPS6C2239176Liver carcinoma1CTD_human
TgeneRPS6C4704874Mammary Carcinoma, Human1CTD_human