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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:PITPNM2-UBE3B (FusionGDB2 ID:65620)

Fusion Gene Summary for PITPNM2-UBE3B

check button Fusion gene summary
Fusion gene informationFusion gene name: PITPNM2-UBE3B
Fusion gene ID: 65620
HgeneTgene
Gene symbol

PITPNM2

UBE3B

Gene ID

57605

89910

Gene namephosphatidylinositol transfer protein membrane associated 2ubiquitin protein ligase E3B
SynonymsNIR-3|NIR3|RDGB2|RDGBA2BPIDS|KOS
Cytomap

12q24.31

12q24.11

Type of geneprotein-codingprotein-coding
Descriptionmembrane-associated phosphatidylinositol transfer protein 2PYK2 N-terminal domain-interacting receptor 3retinal degeneration B alpha 2ubiquitin-protein ligase E3BHECT-type ubiquitin transferase E3B
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000280562, ENST00000320201, 
ENST00000392428, ENST00000542749, 
ENST00000546049, ENST00000451868, 
ENST00000280774, ENST00000340074, 
ENST00000535089, ENST00000535900, 
ENST00000536398, ENST00000537063, 
ENST00000540230, ENST00000342494, 
ENST00000434735, 
Fusion gene scores* DoF score11 X 10 X 7=7704 X 4 X 3=48
# samples 114
** MAII scorelog2(11/770*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PITPNM2 [Title/Abstract] AND UBE3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPITPNM2(123519060)-UBE3B(109935623), # samples:2
Anticipated loss of major functional domain due to fusion event.PITPNM2-UBE3B seems lost the major protein functional domain in Hgene 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
HgenePITPNM2

GO:0048015

phosphatidylinositol-mediated signaling

10022914


check buttonFusion gene breakpoints across PITPNM2 (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 UBE3B (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
ChimerDB4MESOTCGA-TS-A7P7-01APITPNM2chr12

123519060

-UBE3Bchr12

109935623

+


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Fusion Gene ORF analysis for PITPNM2-UBE3B

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
5CDS-intronENST00000280562ENST00000280774PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000280562ENST00000340074PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000280562ENST00000535089PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000280562ENST00000535900PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000280562ENST00000536398PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000280562ENST00000537063PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000280562ENST00000540230PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000280774PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000340074PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000535089PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000535900PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000536398PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000537063PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000320201ENST00000540230PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000280774PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000340074PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000535089PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000535900PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000536398PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000537063PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000392428ENST00000540230PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000280774PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000340074PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000535089PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000535900PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000536398PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000537063PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000542749ENST00000540230PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000280774PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000340074PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000535089PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000535900PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000536398PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000537063PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5CDS-intronENST00000546049ENST00000540230PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-3CDSENST00000451868ENST00000342494PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-3CDSENST00000451868ENST00000434735PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000280774PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000340074PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000535089PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000535900PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000536398PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000537063PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
5UTR-intronENST00000451868ENST00000540230PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000280562ENST00000342494PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000280562ENST00000434735PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000320201ENST00000342494PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000320201ENST00000434735PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000392428ENST00000342494PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000392428ENST00000434735PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000542749ENST00000342494PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000542749ENST00000434735PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000546049ENST00000342494PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+
Frame-shiftENST00000546049ENST00000434735PITPNM2chr12

123519060

-UBE3Bchr12

109935623

+

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 PITPNM2-UBE3B


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)
PITPNM2chr12123519059-UBE3Bchr12109935622+4.67E-081
PITPNM2chr12123519059-UBE3Bchr12109935622+4.67E-081

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.
genomic feature of top 1%

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Fusion Protein Features for PITPNM2-UBE3B


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/:123519060/:109935623)
- 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: 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: 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}.

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 PITPNM2-UBE3B


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 PITPNM2-UBE3B


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 PITPNM2-UBE3B


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 PITPNM2-UBE3B


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