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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:ORMDL3-PPP1R1B

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ORMDL3-PPP1R1B
FusionPDB ID: 61712
FusionGDB2.0 ID: 61712
HgeneTgene
Gene symbol

ORMDL3

PPP1R1B

Gene ID

94103

84152

Gene nameORMDL sphingolipid biosynthesis regulator 3protein phosphatase 1 regulatory inhibitor subunit 1B
Synonyms-DARPP-32|DARPP32
Cytomap

17q21.1

17q12

Type of geneprotein-codingprotein-coding
DescriptionORM1-like protein 3protein phosphatase 1 regulatory subunit 1Bdopamine and cAMP-regulated neuronal phosphoprotein 32
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000304046, ENST00000394169, 
ENST00000579695, ENST00000582052, 
ENST00000584220, 
ENST00000394265, 
ENST00000394267, ENST00000254079, 
ENST00000579000, ENST00000580825, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 4=14417 X 10 X 9=1530
# samples 726
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/1530*10)=-2.55694812455156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ORMDL3 [Title/Abstract] AND PPP1R1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ORMDL3(38080283)-PPP1R1B(37785423), # samples:2
Anticipated loss of major functional domain due to fusion event.ORMDL3-PPP1R1B 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.
ORMDL3-PPP1R1B 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.
ORMDL3-PPP1R1B seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgenePPP1R1B

GO:0032515

negative regulation of phosphoprotein phosphatase activity

10807923


check buttonFusion gene breakpoints across ORMDL3 (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 PPP1R1B (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
ChimerDB4UCECTCGA-D1-A3JP-01AORMDL3chr17

38080283

-PPP1R1Bchr17

37785423

+


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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)
ENST00000304046ORMDL3chr1738080283-ENST00000580825PPP1R1Bchr1737785423+98331441847268
ENST00000304046ORMDL3chr1738080283-ENST00000254079PPP1R1Bchr1737785423+160931441847268
ENST00000304046ORMDL3chr1738080283-ENST00000579000PPP1R1Bchr1737785423+150631441748235
ENST00000394169ORMDL3chr1738080283-ENST00000580825PPP1R1Bchr1737785423+2338166914952202235
ENST00000394169ORMDL3chr1738080283-ENST00000254079PPP1R1Bchr1737785423+2964166914952202235
ENST00000394169ORMDL3chr1738080283-ENST00000579000PPP1R1Bchr1737785423+2861166914952103202

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
ENST00000304046ENST00000580825ORMDL3chr1738080283-PPP1R1Bchr1737785423+0.0103934830.98960644
ENST00000304046ENST00000254079ORMDL3chr1738080283-PPP1R1Bchr1737785423+0.0075766240.9924233
ENST00000304046ENST00000579000ORMDL3chr1738080283-PPP1R1Bchr1737785423+0.0074068450.9925931
ENST00000394169ENST00000580825ORMDL3chr1738080283-PPP1R1Bchr1737785423+0.0080734470.99192655
ENST00000394169ENST00000254079ORMDL3chr1738080283-PPP1R1Bchr1737785423+0.0055319140.9944681
ENST00000394169ENST00000579000ORMDL3chr1738080283-PPP1R1Bchr1737785423+0.0057264850.9942735

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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

>61712_61712_1_ORMDL3-PPP1R1B_ORMDL3_chr17_38080283_ENST00000304046_PPP1R1B_chr17_37785423_ENST00000254079_length(amino acids)=268AA_BP=91
MLQLLEQQRPPLPGTVPGPLIFGPTRTAERGSRMNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHN
MIRRRRPTPAMLFRLSEHSSPEEEASPHQRASGEGHHLKSKRPNPCAYTPPSLKAVQRIAESHLQSISNLNENQASEEEDELGELRELGY

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

>61712_61712_2_ORMDL3-PPP1R1B_ORMDL3_chr17_38080283_ENST00000304046_PPP1R1B_chr17_37785423_ENST00000579000_length(amino acids)=235AA_BP=91
MLQLLEQQRPPLPGTVPGPLIFGPTRTAERGSRMNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHN
MIRRRRPTPAMLFRLSEHSSPAVQRIAESHLQSISNLNENQASEEEDELGELRELGYPREEDEEEEEDDEEEEEEEDSQAEVLKVIRQSA

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

>61712_61712_3_ORMDL3-PPP1R1B_ORMDL3_chr17_38080283_ENST00000304046_PPP1R1B_chr17_37785423_ENST00000580825_length(amino acids)=268AA_BP=91
MLQLLEQQRPPLPGTVPGPLIFGPTRTAERGSRMNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHN
MIRRRRPTPAMLFRLSEHSSPEEEASPHQRASGEGHHLKSKRPNPCAYTPPSLKAVQRIAESHLQSISNLNENQASEEEDELGELRELGY

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

>61712_61712_4_ORMDL3-PPP1R1B_ORMDL3_chr17_38080283_ENST00000394169_PPP1R1B_chr17_37785423_ENST00000254079_length(amino acids)=235AA_BP=58
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMIRRRRPTPAMLFRLSEHSSPEEEASPHQRASG
EGHHLKSKRPNPCAYTPPSLKAVQRIAESHLQSISNLNENQASEEEDELGELRELGYPREEDEEEEEDDEEEEEEEDSQAEVLKVIRQSA

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

>61712_61712_5_ORMDL3-PPP1R1B_ORMDL3_chr17_38080283_ENST00000394169_PPP1R1B_chr17_37785423_ENST00000579000_length(amino acids)=202AA_BP=58
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMIRRRRPTPAMLFRLSEHSSPAVQRIAESHLQS
ISNLNENQASEEEDELGELRELGYPREEDEEEEEDDEEEEEEEDSQAEVLKVIRQSAGQKTTCGQGLEGPWERPPPLDESERDGGSEDQV

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

>61712_61712_6_ORMDL3-PPP1R1B_ORMDL3_chr17_38080283_ENST00000394169_PPP1R1B_chr17_37785423_ENST00000580825_length(amino acids)=235AA_BP=58
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMIRRRRPTPAMLFRLSEHSSPEEEASPHQRASG
EGHHLKSKRPNPCAYTPPSLKAVQRIAESHLQSISNLNENQASEEEDELGELRELGYPREEDEEEEEDDEEEEEEEDSQAEVLKVIRQSA

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

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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/chr17:38080283/chr17:37785423)
- 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
..
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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneORMDL3chr17:38080283chr17:37785423ENST00000304046-241_2158.0154.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000394169-461_2158.0154.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000579695-241_2158.0154.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000304046-2422_4258.0154.0TransmembraneHelical
HgeneORMDL3chr17:38080283chr17:37785423ENST00000394169-4622_4258.0154.0TransmembraneHelical
HgeneORMDL3chr17:38080283chr17:37785423ENST00000579695-2422_4258.0154.0TransmembraneHelical
TgenePPP1R1Bchr17:38080283chr17:37785423ENST0000025407907119_13627.0205.0Compositional biasNote=Asp/Glu-rich (acidic)
TgenePPP1R1Bchr17:38080283chr17:37785423ENST0000039426507119_1360169.0Compositional biasNote=Asp/Glu-rich (acidic)
TgenePPP1R1Bchr17:38080283chr17:37785423ENST0000039426707119_1360169.0Compositional biasNote=Asp/Glu-rich (acidic)
TgenePPP1R1Bchr17:38080283chr17:37785423ENST0000058082518119_13627.0205.0Compositional biasNote=Asp/Glu-rich (acidic)

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneORMDL3chr17:38080283chr17:37785423ENST00000304046-24118_15358.0154.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000304046-2443_9458.0154.0Topological domainLumenal
HgeneORMDL3chr17:38080283chr17:37785423ENST00000394169-46118_15358.0154.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000394169-4643_9458.0154.0Topological domainLumenal
HgeneORMDL3chr17:38080283chr17:37785423ENST00000579695-24118_15358.0154.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000579695-2443_9458.0154.0Topological domainLumenal
HgeneORMDL3chr17:38080283chr17:37785423ENST00000584220-13118_1530.0138.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000584220-131_210.0138.0Topological domainCytoplasmic
HgeneORMDL3chr17:38080283chr17:37785423ENST00000584220-1343_940.0138.0Topological domainLumenal
HgeneORMDL3chr17:38080283chr17:37785423ENST00000304046-2495_11758.0154.0TransmembraneHelical
HgeneORMDL3chr17:38080283chr17:37785423ENST00000394169-4695_11758.0154.0TransmembraneHelical
HgeneORMDL3chr17:38080283chr17:37785423ENST00000579695-2495_11758.0154.0TransmembraneHelical
HgeneORMDL3chr17:38080283chr17:37785423ENST00000584220-1322_420.0138.0TransmembraneHelical
HgeneORMDL3chr17:38080283chr17:37785423ENST00000584220-1395_1170.0138.0TransmembraneHelical


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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
ORMDL3
PPP1R1B


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 ORMDL3-PPP1R1B


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 ORMDL3-PPP1R1B


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