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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:RBM6-IDH2 (FusionGDB2 ID:HG10180TG3418)

Fusion Gene Summary for RBM6-IDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM6-IDH2
Fusion gene ID: hg10180tg3418
HgeneTgene
Gene symbol

RBM6

IDH2

Gene ID

10180

3418

Gene nameRNA binding motif protein 6isocitrate dehydrogenase (NADP(+)) 2
Synonyms3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH
Cytomap('RBM6')('IDH2')

3p21.31

15q26.1

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11isocitrate dehydrogenase [NADP], mitochondrialNADP(+)-specific ICDHisocitrate dehydrogenase (NADP(+)) 2, mitochondrialisocitrate dehydrogenase 2 (NADP+), mitochondrialoxalosuccinate decarboxylase
Modification date2020031320200313
UniProtAcc.

P48735

Ensembl transtripts involved in fusion geneENST00000441115, ENST00000266022, 
ENST00000422955, ENST00000442092, 
ENST00000443081, ENST00000539992, 
ENST00000421682, 
Fusion gene scores* DoF score31 X 22 X 13=88666 X 6 X 5=180
# samples 318
** MAII scorelog2(31/8866*10)=-4.83794324189103
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: RBM6 [Title/Abstract] AND IDH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBM6(49977658)-IDH2(90634876), # samples:4
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


check button Fusion gene information
* 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
ChimerDB4LUSCTCGA-85-A53L-01ARBM6chr3

49977658

-IDH2chr15

90634876

-
ChimerDB4LUSCTCGA-85-A53L-01ARBM6chr3

49977658

+IDH2chr15

90634876

-
ChimerDB4LUSCTCGA-85-A53LRBM6chr3

49977658

+IDH2chr15

90631979

-
ChimerDB4LUSCTCGA-85-A53LRBM6chr3

49977658

+IDH2chr15

90634876

-


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Fusion Gene ORF analysis for RBM6-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
3UTR-3CDSENST00000441115ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
3UTR-3CDSENST00000441115ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
3UTR-5UTRENST00000441115ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
3UTR-5UTRENST00000441115ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
3UTR-intronENST00000441115ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
3UTR-intronENST00000441115ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
3UTR-intronENST00000441115ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
3UTR-intronENST00000441115ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-3CDSENST00000266022ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-3CDSENST00000266022ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-3CDSENST00000422955ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-3CDSENST00000422955ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-3CDSENST00000442092ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-3CDSENST00000442092ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-3CDSENST00000443081ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-3CDSENST00000443081ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-3CDSENST00000539992ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-3CDSENST00000539992ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-5UTRENST00000266022ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-5UTRENST00000266022ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-5UTRENST00000422955ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-5UTRENST00000422955ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-5UTRENST00000442092ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-5UTRENST00000442092ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-5UTRENST00000443081ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-5UTRENST00000443081ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-5UTRENST00000539992ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-5UTRENST00000539992ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000266022ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000266022ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000266022ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000266022ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000422955ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000422955ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000422955ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000422955ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000442092ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000442092ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000442092ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000442092ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000443081ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000443081ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000443081ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000443081ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000539992ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000539992ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
5UTR-intronENST00000539992ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
5UTR-intronENST00000539992ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-
intron-3CDSENST00000421682ENST00000330062RBM6chr3

49977658

+IDH2chr15

90634876

-
intron-3CDSENST00000421682ENST00000330062RBM6chr3

49977658

+IDH2chr15

90631979

-
intron-5UTRENST00000421682ENST00000539790RBM6chr3

49977658

+IDH2chr15

90631979

-
intron-5UTRENST00000421682ENST00000540499RBM6chr3

49977658

+IDH2chr15

90634876

-
intron-intronENST00000421682ENST00000539790RBM6chr3

49977658

+IDH2chr15

90634876

-
intron-intronENST00000421682ENST00000540499RBM6chr3

49977658

+IDH2chr15

90631979

-
intron-intronENST00000421682ENST00000559482RBM6chr3

49977658

+IDH2chr15

90634876

-
intron-intronENST00000421682ENST00000559482RBM6chr3

49977658

+IDH2chr15

90631979

-

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 RBM6-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)


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Fusion Protein Features for RBM6-IDH2


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/:49977658/:90634876)
- 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
.IDH2

P48735

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: 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 RBM6-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 RBM6-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 RBM6-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 RBM6-IDH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0028945oligodendroglioma8CTD_human;ORPHANET
TgeneC0334590Anaplastic Oligodendroglioma8CTD_human;ORPHANET
TgeneC0280793Mixed Oligodendroglioma-Astrocytoma7CTD_human;ORPHANET
TgeneC0334579Anaplastic astrocytoma7ORPHANET
TgeneC0334580Protoplasmic astrocytoma6ORPHANET
TgeneC0334581Gemistocytic astrocytoma6ORPHANET
TgeneC0334582Fibrillary Astrocytoma6ORPHANET
TgeneC0431108Anaplastic Oligoastrocytoma6ORPHANET
TgeneC3150909D-2-HYDROXYGLUTARIC ACIDURIA 23GENOMICS_ENGLAND;UNIPROT
TgeneC0013366Dyschondroplasias2ORPHANET
TgeneC0014084Enchondromatosis2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0023467Leukemia, Myelocytic, Acute2CGI;CTD_human
TgeneC0024454Maffucci Syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0026998Acute Myeloid Leukemia, M12CTD_human
TgeneC0079774Peripheral T-Cell Lymphoma2CTD_human
TgeneC0936248Chondroma2CTD_human
TgeneC1704356Enchondroma2CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
TgeneC2750850GLIOMA SUSCEPTIBILITY 12UNIPROT
TgeneC0001787Osteoporosis, Age-Related1CTD_human
TgeneC0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneC0007682CNS disorder1CTD_human
TgeneC0018273Growth Disorders1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0018916Hemangioma1CTD_human
TgeneC0020295Hydronephrosis1CTD_human
TgeneC0020981Angioimmunoblastic Lymphadenopathy1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0023487Acute Promyelocytic Leukemia1CTD_human
TgeneC0027643Neoplasm Recurrence, Local1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0029456Osteoporosis1CTD_human
TgeneC0029459Osteoporosis, Senile1CTD_human
TgeneC0035078Kidney Failure1CTD_human
TgeneC0036572Seizures1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0205788Histiocytoid hemangioma1CTD_human
TgeneC0205789Hemangioma, Intramuscular1CTD_human
TgeneC0206698Cholangiocarcinoma1CGI;CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0279070Adult Oligodendroglioma1CTD_human
TgeneC0280475Childhood Oligodendroglioma1CTD_human
TgeneC0344461Oligodendroblastoma1CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0677608Chorioangioma1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751395Mixed Oligodendroglioma-Ependymoma1CTD_human
TgeneC0751396Well Differentiated Oligodendroglioma1CTD_human
TgeneC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1565489Renal Insufficiency1CTD_human
TgeneC1959588Angioma1CTD_human
TgeneC2746066Combined D-2- and L-2-hydroxyglutaric aciduria1CTD_human
TgeneC3152055D-2-HYDROXYGLUTARIC ACIDURIA 11ORPHANET
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human
TgeneC4551472Hypertrophic obstructive cardiomyopathy1CTD_human