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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-FIG4 (FusionGDB2 ID:72519)

Fusion Gene Summary for RBM6-FIG4

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM6-FIG4
Fusion gene ID: 72519
HgeneTgene
Gene symbol

RBM6

FIG4

Gene ID

10180

9896

Gene nameRNA binding motif protein 6FIG4 phosphoinositide 5-phosphatase
Synonyms3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1
Cytomap

3p21.31

6q21

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11polyphosphoinositide phosphataseFIG4 homolog, SAC domain containing lipid phosphataseFIG4 homolog, SAC1 domain containing lipid phosphataseFIG4 homolog, SAC1 lipid phosphatase domain containingSAC domain-containing protein 3Sac domain-containing inos
Modification date2020031320200328
UniProtAcc.

Q92562

Ensembl transtripts involved in fusion geneENST00000442092, ENST00000266022, 
ENST00000443081, ENST00000539992, 
ENST00000441115, ENST00000422955, 
ENST00000421682, 		ENST00000441478, 
ENST00000230124, ENST00000368941, 
Fusion gene scores* DoF score31 X 22 X 13=88666 X 10 X 5=300
# samples 317
** MAII scorelog2(31/8866*10)=-4.83794324189103
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/300*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBM6 [Title/Abstract] AND FIG4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBM6(50036946)-FIG4(110106173), # samples:1
Anticipated loss of major functional domain due to fusion event.RBM6-FIG4 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
RBM6-FIG4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RBM6-FIG4 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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

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 FIG4 (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
ChimerDB4STADTCGA-HU-A4GY-01ARBM6chr3

50036946

+FIG4chr6

110106173

+


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Fusion Gene ORF analysis for RBM6-FIG4

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
intron-3CDSENST00000442092ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000442092ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-intronENST00000442092ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+
Frame-shiftENST00000266022ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
Frame-shiftENST00000266022ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
5CDS-intronENST00000266022ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+
Frame-shiftENST00000443081ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
Frame-shiftENST00000443081ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
5CDS-intronENST00000443081ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000539992ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000539992ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-intronENST00000539992ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+
3UTR-3CDSENST00000441115ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
3UTR-3CDSENST00000441115ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
3UTR-intronENST00000441115ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000422955ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000422955ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-intronENST00000422955ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000421682ENST00000441478RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-3CDSENST00000421682ENST00000230124RBM6chr3

50036946

+FIG4chr6

110106173

+
intron-intronENST00000421682ENST00000368941RBM6chr3

50036946

+FIG4chr6

110106173

+

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-FIG4


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)
RBM6chr350036946+FIG4chr6110106172+4.14E-070.99999964
RBM6chr350036946+FIG4chr6110106172+4.14E-070.99999964

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-FIG4


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
.FIG4

Q92562

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: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. {ECO:0000269|PubMed:17556371}.

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-FIG4


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-FIG4


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-FIG4


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-FIG4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFIG4C1970011CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFIG4C1857663Yunis Varon syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFIG4C2675491AMYOTROPHIC LATERAL SCLEROSIS 112CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFIG4C0002736Amyotrophic Lateral Sclerosis1ORPHANET
TgeneFIG4C0007959Charcot-Marie-Tooth Disease1CTD_human
TgeneFIG4C0205713Roussy-Levy Syndrome (disorder)1CTD_human
TgeneFIG4C0241391Thumb absent1GENOMICS_ENGLAND
TgeneFIG4C0270911Charcot-Marie-Tooth Disease, Type Ia (disorder)1CTD_human
TgeneFIG4C0270912Charcot-Marie-Tooth Disease, Type Ib1CTD_human
TgeneFIG4C0270914Hereditary Motor and Sensory-Neuropathy Type II1CTD_human
TgeneFIG4C0751036Hereditary Motor and Sensory Neuropathy Type I1CTD_human
TgeneFIG4C3179508Aplasia/Hypoplasia of the thumb1GENOMICS_ENGLAND
TgeneFIG4C3278811Thumb aplasia1GENOMICS_ENGLAND
TgeneFIG4C4013648POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL1ORPHANET;UNIPROT