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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:PPP2R1B-IDH2 (FusionGDB2 ID:67564)

Fusion Gene Summary for PPP2R1B-IDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP2R1B-IDH2
Fusion gene ID: 67564
HgeneTgene
Gene symbol

PPP2R1B

IDH2

Gene ID

5519

3418

Gene nameprotein phosphatase 2 scaffold subunit Abetaisocitrate dehydrogenase (NADP(+)) 2
SynonymsPP2A-Abeta|PR65BD2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH
Cytomap

11q23.1

15q26.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoformPP2A, subunit A, PR65-beta isoformPP2A, subunit A, R1-beta isoformprotein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoformprotein phosphatase 2, regulatory isocitrate dehydrogenase [NADP], mitochondrialNADP(+)-specific ICDHisocitrate dehydrogenase (NADP(+)) 2, mitochondrialisocitrate dehydrogenase 2 (NADP+), mitochondrialoxalosuccinate decarboxylase
Modification date2020031320200313
UniProtAcc.

P48735

Ensembl transtripts involved in fusion geneENST00000311129, ENST00000426998, 
ENST00000530787, ENST00000527614, 
ENST00000427203, ENST00000341980, 
ENST00000393055, 		ENST00000330062, 
ENST00000539790, ENST00000559482, 
ENST00000540499, 
Fusion gene scores* DoF score4 X 5 X 5=1006 X 6 X 5=180
# samples 58
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/180*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPP2R1B [Title/Abstract] AND IDH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPP2R1B(111613247)-IDH2(90634876), # samples:1
Anticipated loss of major functional domain due to fusion event.PPP2R1B-IDH2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PPP2R1B-IDH2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PPP2R1B-IDH2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
PPP2R1B-IDH2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PPP2R1B-IDH2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
PPP2R1B-IDH2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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 PPP2R1B (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 IDH2 (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
ChimerDB4LGGTCGA-DU-7298-01APPP2R1Bchr11

111613247

-IDH2chr15

90634876

-


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Fusion Gene ORF analysis for PPP2R1B-IDH2

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
Frame-shiftENST00000311129ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000311129ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000311129ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-5UTRENST00000311129ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
Frame-shiftENST00000426998ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000426998ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000426998ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-5UTRENST00000426998ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
intron-3CDSENST00000530787ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
intron-intronENST00000530787ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
intron-intronENST00000530787ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
intron-5UTRENST00000530787ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
Frame-shiftENST00000527614ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000527614ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000527614ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-5UTRENST00000527614ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
Frame-shiftENST00000427203ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000427203ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000427203ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-5UTRENST00000427203ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
Frame-shiftENST00000341980ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000341980ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000341980ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-5UTRENST00000341980ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
Frame-shiftENST00000393055ENST00000330062PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000393055ENST00000539790PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-intronENST00000393055ENST00000559482PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-
5CDS-5UTRENST00000393055ENST00000540499PPP2R1Bchr11

111613247

-IDH2chr15

90634876

-

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 PPP2R1B-IDH2


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 PPP2R1B-IDH2


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
.IDH2

P48735

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 intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

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 PPP2R1B-IDH2


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 PPP2R1B-IDH2


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 PPP2R1B-IDH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIDH2P48735DB13874EnasidenibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for PPP2R1B-IDH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIDH2C0028945oligodendroglioma8CTD_human;ORPHANET
TgeneIDH2C0334590Anaplastic Oligodendroglioma8CTD_human;ORPHANET
TgeneIDH2C0280793Mixed Oligodendroglioma-Astrocytoma7CTD_human;ORPHANET
TgeneIDH2C0334579Anaplastic astrocytoma7ORPHANET
TgeneIDH2C0334580Protoplasmic astrocytoma6ORPHANET
TgeneIDH2C0334581Gemistocytic astrocytoma6ORPHANET
TgeneIDH2C0334582Fibrillary Astrocytoma6ORPHANET
TgeneIDH2C0431108Anaplastic Oligoastrocytoma6ORPHANET
TgeneIDH2C3150909D-2-HYDROXYGLUTARIC ACIDURIA 23GENOMICS_ENGLAND;UNIPROT
TgeneIDH2C0013366Dyschondroplasias2ORPHANET
TgeneIDH2C0014084Enchondromatosis2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneIDH2C0023467Leukemia, Myelocytic, Acute2CGI;CTD_human
TgeneIDH2C0024454Maffucci Syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneIDH2C0026998Acute Myeloid Leukemia, M12CTD_human
TgeneIDH2C0079774Peripheral T-Cell Lymphoma2CTD_human
TgeneIDH2C0936248Chondroma2CTD_human
TgeneIDH2C1704356Enchondroma2CTD_human
TgeneIDH2C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
TgeneIDH2C2750850GLIOMA SUSCEPTIBILITY 12UNIPROT
TgeneIDH2C0001787Osteoporosis, Age-Related1CTD_human
TgeneIDH2C0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneIDH2C0007682CNS disorder1CTD_human
TgeneIDH2C0018273Growth Disorders1CTD_human
TgeneIDH2C0018800Cardiomegaly1CTD_human
TgeneIDH2C0018916Hemangioma1CTD_human
TgeneIDH2C0020295Hydronephrosis1CTD_human
TgeneIDH2C0020981Angioimmunoblastic Lymphadenopathy1CTD_human
TgeneIDH2C0022333Jacksonian Seizure1CTD_human
TgeneIDH2C0023487Acute Promyelocytic Leukemia1CTD_human
TgeneIDH2C0027643Neoplasm Recurrence, Local1CTD_human
TgeneIDH2C0029408Degenerative polyarthritis1CTD_human
TgeneIDH2C0029456Osteoporosis1CTD_human
TgeneIDH2C0029459Osteoporosis, Senile1CTD_human
TgeneIDH2C0035078Kidney Failure1CTD_human
TgeneIDH2C0036572Seizures1CTD_human
TgeneIDH2C0086743Osteoarthrosis Deformans1CTD_human
TgeneIDH2C0149958Complex partial seizures1CTD_human
TgeneIDH2C0205788Histiocytoid hemangioma1CTD_human
TgeneIDH2C0205789Hemangioma, Intramuscular1CTD_human
TgeneIDH2C0206698Cholangiocarcinoma1CGI;CTD_human
TgeneIDH2C0234533Generalized seizures1CTD_human
TgeneIDH2C0234535Clonic Seizures1CTD_human
TgeneIDH2C0242698Ventricular Dysfunction, Left1CTD_human
TgeneIDH2C0270824Visual seizure1CTD_human
TgeneIDH2C0270844Tonic Seizures1CTD_human
TgeneIDH2C0270846Epileptic drop attack1CTD_human
TgeneIDH2C0279070Adult Oligodendroglioma1CTD_human
TgeneIDH2C0280475Childhood Oligodendroglioma1CTD_human
TgeneIDH2C0344461Oligodendroblastoma1CTD_human
TgeneIDH2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneIDH2C0376634Craniofacial Abnormalities1CTD_human
TgeneIDH2C0422850Seizures, Somatosensory1CTD_human
TgeneIDH2C0422852Seizures, Auditory1CTD_human
TgeneIDH2C0422853Olfactory seizure1CTD_human
TgeneIDH2C0422854Gustatory seizure1CTD_human
TgeneIDH2C0422855Vertiginous seizure1CTD_human
TgeneIDH2C0494475Tonic - clonic seizures1CTD_human
TgeneIDH2C0677608Chorioangioma1CTD_human
TgeneIDH2C0751056Non-epileptic convulsion1CTD_human
TgeneIDH2C0751110Single Seizure1CTD_human
TgeneIDH2C0751123Atonic Absence Seizures1CTD_human
TgeneIDH2C0751395Mixed Oligodendroglioma-Ependymoma1CTD_human
TgeneIDH2C0751396Well Differentiated Oligodendroglioma1CTD_human
TgeneIDH2C0751406Post-Traumatic Osteoporosis1CTD_human
TgeneIDH2C0751494Convulsive Seizures1CTD_human
TgeneIDH2C0751495Seizures, Focal1CTD_human
TgeneIDH2C0751496Seizures, Sensory1CTD_human
TgeneIDH2C1383860Cardiac Hypertrophy1CTD_human
TgeneIDH2C1565489Renal Insufficiency1CTD_human
TgeneIDH2C1959588Angioma1CTD_human
TgeneIDH2C2746066Combined D-2- and L-2-hydroxyglutaric aciduria1CTD_human
TgeneIDH2C3152055D-2-HYDROXYGLUTARIC ACIDURIA 11ORPHANET
TgeneIDH2C3495874Nonepileptic Seizures1CTD_human
TgeneIDH2C3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneIDH2C4048158Convulsions1CTD_human
TgeneIDH2C4316903Absence Seizures1CTD_human
TgeneIDH2C4317109Epileptic Seizures1CTD_human
TgeneIDH2C4317123Myoclonic Seizures1CTD_human
TgeneIDH2C4505436Generalized Absence Seizures1CTD_human
TgeneIDH2C4551472Hypertrophic obstructive cardiomyopathy1CTD_human