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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:NIPAL3-PPP4R1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NIPAL3-PPP4R1
FusionPDB ID: 59186
FusionGDB2.0 ID: 59186
HgeneTgene
Gene symbol

NIPAL3

PPP4R1

Gene ID

57185

9989

Gene nameNIPA like domain containing 3protein phosphatase 4 regulatory subunit 1
SynonymsDJ462O23.2|NPAL3MEG1|PP4(Rmeg)|PP4R1
Cytomap

1p36.11

18p11.22

Type of geneprotein-codingprotein-coding
DescriptionNIPA-like protein 3serine/threonine-protein phosphatase 4 regulatory subunit 1serine/threonine phosphatase 4
Modification date2020031320200313
UniProtAcc

Q6P499

.
Ensembl transtripts involved in fusion geneENST idsENST00000003912, ENST00000339255, 
ENST00000374399, ENST00000358028, 
ENST00000428131, ENST00000488155, 
ENST00000580583, ENST00000400555, 
ENST00000400556, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 5 X 4=8017 X 14 X 9=2142
# samples 617
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/2142*10)=-3.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NIPAL3 [Title/Abstract] AND PPP4R1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NIPAL3(24790610)-PPP4R1(9547950), # samples:1
Anticipated loss of major functional domain due to fusion event.NIPAL3-PPP4R1 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.
NIPAL3-PPP4R1 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.
NIPAL3-PPP4R1 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.
NIPAL3-PPP4R1 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.
NIPAL3-PPP4R1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
NIPAL3-PPP4R1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

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

check buttonFusion gene breakpoints across NIPAL3 (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 PPP4R1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-XF-AAMY-01ANIPAL3chr1

24790610

-PPP4R1chr18

9547950

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000374399NIPAL3chr124790610-ENST00000400556PPP4R1chr189547950-255113893681552394
ENST00000003912NIPAL3chr124790610-ENST00000400556PPP4R1chr189547950-265214905681653361
ENST00000339255NIPAL3chr124790610-ENST00000400556PPP4R1chr189547950-253113693481532394

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
ENST00000374399ENST00000400556NIPAL3chr124790610-PPP4R1chr189547950-0.0047474120.9952526
ENST00000003912ENST00000400556NIPAL3chr124790610-PPP4R1chr189547950-0.0017024540.9982975
ENST00000339255ENST00000400556NIPAL3chr124790610-PPP4R1chr189547950-0.0046161270.9953839

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>59186_59186_1_NIPAL3-PPP4R1_NIPAL3_chr1_24790610_ENST00000003912_PPP4R1_chr18_9547950_ENST00000400556_length(amino acids)=361AA_BP=306
MIGALLAIFGHLVVSIALNLQKYCHIRLAGSKDPRAYFKTKTWWLGLFLMLLGELGVFASYAFAPLSLIVPLSAVSVIASAIIGIIFIKE
KWKPKDFLRRYVLSFVGCGLAVVGTYLLVTFAPNSHEKMTGENVTRHLVSWPFLLYMLVEIILFCLLLYFYKEKNANNIVVILLLVALLG
SMTVVTVKAVAGMLVLSIQGNLQLDYPIFYVMFVCMVATAVYQAAFLSQASQMYDSSLIASVGYILSTTIAITAGAIFYLDFIGEDVLHI
CMFALGCLIAFLGVFLITRNRKKPIPFEPYISMDAMPDYFLASASCHQEAVEQTIMALQMDRDSDVKYFASIHPASTKISEDAMSTASST

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

>59186_59186_2_NIPAL3-PPP4R1_NIPAL3_chr1_24790610_ENST00000339255_PPP4R1_chr18_9547950_ENST00000400556_length(amino acids)=394AA_BP=339
MDGSHSAALKLQQLPPTSSSSAVSEASFSYKENLIGALLAIFGHLVVSIALNLQKYCHIRLAGSKDPRAYFKTKTWWLGLFLMLLGELGV
FASYAFAPLSLIVPLSAVSVIASAIIGIIFIKEKWKPKDFLRRYVLSFVGCGLAVVGTYLLVTFAPNSHEKMTGENVTRHLVSWPFLLYM
LVEIILFCLLLYFYKEKNANNIVVILLLVALLGSMTVVTVKAVAGMLVLSIQGNLQLDYPIFYVMFVCMVATAVYQAAFLSQASQMYDSS
LIASVGYILSTTIAITAGAIFYLDFIGEDVLHICMFALGCLIAFLGVFLITRNRKKPIPFEPYISMDAMPDYFLASASCHQEAVEQTIMA

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

>59186_59186_3_NIPAL3-PPP4R1_NIPAL3_chr1_24790610_ENST00000374399_PPP4R1_chr18_9547950_ENST00000400556_length(amino acids)=394AA_BP=339
MDGSHSAALKLQQLPPTSSSSAVSEASFSYKENLIGALLAIFGHLVVSIALNLQKYCHIRLAGSKDPRAYFKTKTWWLGLFLMLLGELGV
FASYAFAPLSLIVPLSAVSVIASAIIGIIFIKEKWKPKDFLRRYVLSFVGCGLAVVGTYLLVTFAPNSHEKMTGENVTRHLVSWPFLLYM
LVEIILFCLLLYFYKEKNANNIVVILLLVALLGSMTVVTVKAVAGMLVLSIQGNLQLDYPIFYVMFVCMVATAVYQAAFLSQASQMYDSS
LIASVGYILSTTIAITAGAIFYLDFIGEDVLHICMFALGCLIAFLGVFLITRNRKKPIPFEPYISMDAMPDYFLASASCHQEAVEQTIMA

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

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Fusion Protein Functional Features


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/chr1:24790610/chr18:9547950)
- 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
NIPAL3

Q6P499

.
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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-121318_21258.3333333333333325.0Compositional biasNote=Poly-Ser
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-111218_21340.3333333333333407.0Compositional biasNote=Poly-Ser
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213101_121258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213135_155258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213171_191258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213202_222258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213240_260258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-121333_53258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-121376_96258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112101_121340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112135_155340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112171_191340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112202_222340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112240_260340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112271_291340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-1112300_320340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-111233_53340.3333333333333407.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000374399-111276_96340.3333333333333407.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-1818_210227.0Compositional biasNote=Poly-Ser
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-1718_210.0227.0Compositional biasNote=Poly-Ser
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213271_291258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000003912-1213300_320258.3333333333333325.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18101_1210227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18135_1550227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18171_1910227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18202_2220227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18240_2600227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18271_2910227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-18300_3200227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-1833_530227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000358028-1876_960227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17101_1210.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17135_1550.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17171_1910.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17202_2220.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17240_2600.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17271_2910.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-17300_3200.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-1733_530.0227.0TransmembraneHelical
HgeneNIPAL3chr1:24790610chr18:9547950ENST00000428131-1776_960.0227.0TransmembraneHelical
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820127_164879.3333333333334934.0RepeatNote=HEAT 5
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820168_206879.3333333333334934.0RepeatNote=HEAT 6
TgenePPP4R1chr1:24790610chr18:9547950ENST0000040055518201_25879.3333333333334934.0RepeatNote=HEAT 1
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820208_246879.3333333333334934.0RepeatNote=HEAT 7
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820248_285879.3333333333334934.0RepeatNote=HEAT 8
TgenePPP4R1chr1:24790610chr18:9547950ENST00000400555182026_63879.3333333333334934.0RepeatNote=HEAT 2
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820287_324879.3333333333334934.0RepeatNote=HEAT 9
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820505_542879.3333333333334934.0RepeatNote=HEAT 10
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820568_606879.3333333333334934.0RepeatNote=HEAT 11
TgenePPP4R1chr1:24790610chr18:9547950ENST00000400555182065_81879.3333333333334934.0RepeatNote=HEAT 3
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820698_734879.3333333333334934.0RepeatNote=HEAT 12
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820799_837879.3333333333334934.0RepeatNote=HEAT 13
TgenePPP4R1chr1:24790610chr18:9547950ENST00000400555182082_119879.3333333333334934.0RepeatNote=HEAT 4
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005551820861_898879.3333333333334934.0RepeatNote=HEAT 14
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820127_164896.3333333333334951.0RepeatNote=HEAT 5
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820168_206896.3333333333334951.0RepeatNote=HEAT 6
TgenePPP4R1chr1:24790610chr18:9547950ENST0000040055618201_25896.3333333333334951.0RepeatNote=HEAT 1
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820208_246896.3333333333334951.0RepeatNote=HEAT 7
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820248_285896.3333333333334951.0RepeatNote=HEAT 8
TgenePPP4R1chr1:24790610chr18:9547950ENST00000400556182026_63896.3333333333334951.0RepeatNote=HEAT 2
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820287_324896.3333333333334951.0RepeatNote=HEAT 9
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820505_542896.3333333333334951.0RepeatNote=HEAT 10
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820568_606896.3333333333334951.0RepeatNote=HEAT 11
TgenePPP4R1chr1:24790610chr18:9547950ENST00000400556182065_81896.3333333333334951.0RepeatNote=HEAT 3
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820698_734896.3333333333334951.0RepeatNote=HEAT 12
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820799_837896.3333333333334951.0RepeatNote=HEAT 13
TgenePPP4R1chr1:24790610chr18:9547950ENST00000400556182082_119896.3333333333334951.0RepeatNote=HEAT 4
TgenePPP4R1chr1:24790610chr18:9547950ENST000004005561820861_898896.3333333333334951.0RepeatNote=HEAT 14


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NIPAL3
PPP4R1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to NIPAL3-PPP4R1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to NIPAL3-PPP4R1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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