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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:RBM6-MON1A (FusionGDB2 ID:72525)

Fusion Gene Summary for RBM6-MON1A

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM6-MON1A
Fusion gene ID: 72525
HgeneTgene
Gene symbol

RBM6

MON1A

Gene ID

10180

84315

Gene nameRNA binding motif protein 6MON1 homolog A, secretory trafficking associated
Synonyms3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16SAND1
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11vacuolar fusion protein MON1 homolog AMON1 secretory trafficking family member A
Modification date2020031320200313
UniProtAcc.

Q86VX9

Ensembl transtripts involved in fusion geneENST00000442092, ENST00000266022, 
ENST00000443081, ENST00000539992, 
ENST00000441115, ENST00000422955, 
ENST00000421682, 		ENST00000296473, 
ENST00000455683, ENST00000417270, 
ENST00000483022, 
Fusion gene scores* DoF score31 X 22 X 13=88663 X 1 X 4=12
# samples 315
** MAII scorelog2(31/8866*10)=-4.83794324189103
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/12*10)=2.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RBM6 [Title/Abstract] AND MON1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBM6(50000118)-MON1A(49950792), # samples:1
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 buttonFusion gene breakpoints across RBM6 (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 MON1A (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
ChimerDB4ESCATCGA-JY-A6FARBM6chr3

50000118

+MON1Achr3

49950792

-


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Fusion Gene ORF analysis for RBM6-MON1A

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
5UTR-3CDSENST00000442092ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000442092ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000442092ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-5UTRENST00000442092ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-
In-frameENST00000266022ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
In-frameENST00000266022ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
In-frameENST00000266022ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
5CDS-5UTRENST00000266022ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000443081ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000443081ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000443081ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-5UTRENST00000443081ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000539992ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000539992ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000539992ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-5UTRENST00000539992ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-
3UTR-3CDSENST00000441115ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
3UTR-3CDSENST00000441115ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
3UTR-3CDSENST00000441115ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
3UTR-5UTRENST00000441115ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000422955ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000422955ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-3CDSENST00000422955ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
5UTR-5UTRENST00000422955ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-
intron-3CDSENST00000421682ENST00000296473RBM6chr3

50000118

+MON1Achr3

49950792

-
intron-3CDSENST00000421682ENST00000455683RBM6chr3

50000118

+MON1Achr3

49950792

-
intron-3CDSENST00000421682ENST00000417270RBM6chr3

50000118

+MON1Achr3

49950792

-
intron-5UTRENST00000421682ENST00000483022RBM6chr3

50000118

+MON1Achr3

49950792

-

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-MON1A


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 RBM6-MON1A


check button Go to

FGviewer for the breakpoints of chr3:50000118-chr3:49950792

.
- 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
.MON1A

Q86VX9

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 an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991). {ECO:0000250|UniProtKB:Q6PDG8, ECO:0000269|PubMed:23084991}.

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
HgeneRBM6chr3:50000118chr3:49950792ENST00000266022+221826_82914.6666666666666661124.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:49950792ENST00000266022+221892_89514.6666666666666661124.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50000118chr3:49950792ENST00000266022+221915_92114.6666666666666661124.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:49950792ENST00000422955+219826_8290602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:49950792ENST00000422955+219892_8950602.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50000118chr3:49950792ENST00000422955+219915_9210602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:49950792ENST00000442092+217826_8290602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:49950792ENST00000442092+217892_8950602.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50000118chr3:49950792ENST00000442092+217915_9210602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:49950792ENST00000266022+2211051_109714.6666666666666661124.0DomainG-patch
HgeneRBM6chr3:50000118chr3:49950792ENST00000266022+221456_53614.6666666666666661124.0DomainRRM
HgeneRBM6chr3:50000118chr3:49950792ENST00000422955+2191051_10970602.0DomainG-patch
HgeneRBM6chr3:50000118chr3:49950792ENST00000422955+219456_5360602.0DomainRRM
HgeneRBM6chr3:50000118chr3:49950792ENST00000442092+2171051_10970602.0DomainG-patch
HgeneRBM6chr3:50000118chr3:49950792ENST00000442092+217456_5360602.0DomainRRM


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Fusion Gene Sequence for RBM6-MON1A


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-MON1A


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-MON1A


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 RBM6-MON1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMON1AC0012715Iron Metabolism Disorders1CTD_human