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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-ARL6IP5 (FusionGDB2 ID:72966)

Fusion Gene Summary for RBM6-ARL6IP5

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM6-ARL6IP5
Fusion gene ID: 72966
HgeneTgene
Gene symbol

RBM6

ARL6IP5

Gene ID

10180

10550

Gene nameRNA binding motif protein 6ADP ribosylation factor like GTPase 6 interacting protein 5
Synonyms3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16DERP11|GTRAP3-18|HSPC127|JWA|PRAF3|Yip6b|addicsin|hp22|jmx
Cytomap

3p21.31

3p14.1

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11PRA1 family protein 3ADP-ribosylation factor GTPase 6 interacting protein 5ADP-ribosylation factor-like 6 interacting protein 5ADP-ribosylation factor-like protein 6-interacting protein 5ADP-ribosylation-like factor 6 interacting protein 5ARL-6-inter
Modification date2020031320200313
UniProtAcc.

O75915

Ensembl transtripts involved in fusion geneENST00000441115, ENST00000422955, 
ENST00000442092, ENST00000443081, 
ENST00000539992, ENST00000266022, 
ENST00000421682, 
ENST00000273258, 
ENST00000478935, 
Fusion gene scores* DoF score31 X 22 X 13=88668 X 7 X 3=168
# samples 318
** MAII scorelog2(31/8866*10)=-4.83794324189103
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBM6 [Title/Abstract] AND ARL6IP5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBM6(50000118)-ARL6IP5(69150989), # 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
TgeneARL6IP5

GO:0008631

intrinsic apoptotic signaling pathway in response to oxidative stress

18387645


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.
all structure

check buttonFusion gene breakpoints across ARL6IP5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-RD-A8N2RBM6chr3

50000118

+ARL6IP5chr3

69150989

+


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Fusion Gene ORF analysis for RBM6-ARL6IP5

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-3CDSENST00000441115ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
3UTR-3CDSENST00000441115ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000422955ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000422955ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000442092ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000442092ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000443081ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000443081ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000539992ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
5UTR-3CDSENST00000539992ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
In-frameENST00000266022ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
In-frameENST00000266022ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
intron-3CDSENST00000421682ENST00000273258RBM6chr3

50000118

+ARL6IP5chr3

69150989

+
intron-3CDSENST00000421682ENST00000478935RBM6chr3

50000118

+ARL6IP5chr3

69150989

+

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)
ENST00000266022RBM6chr350000118+ENST00000273258ARL6IP5chr369150989+2124303259693144
ENST00000266022RBM6chr350000118+ENST00000478935ARL6IP5chr369150989+1549303108488167

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
ENST00000266022ENST00000273258RBM6chr350000118+ARL6IP5chr369150989+0.0143799770.98562
ENST00000266022ENST00000478935RBM6chr350000118+ARL6IP5chr369150989+0.95321450.046785466

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Fusion Genomic Features for RBM6-ARL6IP5


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)
RBM6chr350000118+ARL6IP5chr369150989+3.22E-070.99999964
RBM6chr350000118+ARL6IP5chr369150989+3.22E-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.
genomic feature

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 RBM6-ARL6IP5


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/chr3:50000118/chr3:69150989)
- 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
.ARL6IP5

O75915

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: Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. Plays a role in the retention of SLC1A1/EAAC1 in the endoplasmic reticulum. {ECO:0000250|UniProtKB:Q8R5J9, ECO:0000250|UniProtKB:Q9ES40}.

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
TgeneARL6IP5chr3:50000118chr3:69150989ENST0000027325803103_11758189.0RegionRequired for homodimer formation and heterodimer formation with ARL6IP1
TgeneARL6IP5chr3:50000118chr3:69150989ENST0000027325803136_18858189.0RegionTargeting to endoplasmic reticulum membrane
TgeneARL6IP5chr3:50000118chr3:69150989ENST000002732580378_9358189.0Topological domainCytoplasmic
TgeneARL6IP5chr3:50000118chr3:69150989ENST0000027325803115_13558189.0TransmembraneHelical
TgeneARL6IP5chr3:50000118chr3:69150989ENST000002732580357_7758189.0TransmembraneHelical
TgeneARL6IP5chr3:50000118chr3:69150989ENST000002732580394_11458189.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBM6chr3:50000118chr3:69150989ENST00000266022+221826_829141124.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:69150989ENST00000266022+221892_895141124.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50000118chr3:69150989ENST00000266022+221915_921141124.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:69150989ENST00000422955+219826_8290602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:69150989ENST00000422955+219892_8950602.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50000118chr3:69150989ENST00000422955+219915_9210602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:69150989ENST00000442092+217826_8290602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:69150989ENST00000442092+217892_8950602.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50000118chr3:69150989ENST00000442092+217915_9210602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50000118chr3:69150989ENST00000266022+2211051_1097141124.0DomainG-patch
HgeneRBM6chr3:50000118chr3:69150989ENST00000266022+221456_536141124.0DomainRRM
HgeneRBM6chr3:50000118chr3:69150989ENST00000422955+2191051_10970602.0DomainG-patch
HgeneRBM6chr3:50000118chr3:69150989ENST00000422955+219456_5360602.0DomainRRM
HgeneRBM6chr3:50000118chr3:69150989ENST00000442092+2171051_10970602.0DomainG-patch
HgeneRBM6chr3:50000118chr3:69150989ENST00000442092+217456_5360602.0DomainRRM
TgeneARL6IP5chr3:50000118chr3:69150989ENST00000273258031_3558189.0Topological domainCytoplasmic
TgeneARL6IP5chr3:50000118chr3:69150989ENST000002732580336_5658189.0TransmembraneHelical


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Fusion Gene Sequence for RBM6-ARL6IP5


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.
>72966_72966_1_RBM6-ARL6IP5_RBM6_chr3_50000118_ENST00000266022_ARL6IP5_chr3_69150989_ENST00000273258_length(transcript)=2124nt_BP=303nt
ACGGCGGGAGTAAGAGTCTGCGGGACCGGCAGCTGTACTTCATCTCCCAGCGGGCCGAGCGCTGAAGGCAGCGGCGCGGCGCCTTTGTGG
TAGCAGTGGCCCCGCGCGGAGGAAGTTCCGGTGTCCGCGGCGCTGGGTCGGTGGCGGAGGCTGAGGAGAAGGAGGAGCGGGCCGTGGAGG
CTTCGCCGCCTAGGTACTGCTATAACCAGAATTTGGTAGAAAAAGGATTTACTTGTTGGGGCCCTCTTGATAAAAAGAGATGTGGGGGGA
TTCTCGACCTGCTAACAGAACTGGACCTTTTCGGTTTCTGAGTCCCTTCAACATGATCCTGGGAGGAATCGTGGTGGTGCTGGTGTTCAC
AGGGTTTGTGTGGGCAGCCCACAATAAAGACGTCCTTCGCCGGATGAAGAAGCGCTACCCCACGACGTTCGTTATGGTGGTCATGTTGGC
GAGCTATTTCCTTATCTCCATGTTTGGAGGAGTCATGGTCTTTGTGTTTGGCATTACTTTTCCTTTGCTGTTGATGTTTATCCATGCATC
GTTGAGACTTCGGAACCTCAAGAACAAACTGGAGAATAAAATGGAAGGAATAGGTTTGAAGAGGACACCGATGGGCATTGTCCTGGATGC
CCTAGAACAGCAGGAAGAAGGCATCAACAGACTCACTGACTATATCAGCAAAGTGAAGGAATAAACATAACTTACCTGAGCTAGGGTTGC
AGCAGAAATTGAGTTGCAGCTTGCCCTTGTCCAGACCTATGTTCTGCTTGCGTTTTTGAAACAGGAGGTGCACGTACCACCCAATTATCT
ATGGCAGCATGCATGTATAGGCCGAACTATTATCAGCTCTGATGTTTCAGAGAGAAGACCTCAGAAACCGAAAGAAAACCACCACCCTCC
TATTGTGTCTGAAGTTTCACGTGTGTTTATGAAATCTAATGGGAAATGGATCACACGATTTCTTTAAGGGAATTAAAAAAAATAAAAGAA
TTACGGCTTTTACAGCAACAATACGATTATCTTATAGGAAAAAAAAAATCATTGTAAAGTATCAAGACAATACGAGTAAATGAAAAGGCT
GTTAAAGTAGATGACATCATGTGTTAGCCTGTTCCTAATCCCCTAGAATTGTAATGTGTGGGATATAAATTAGTTTTTATTATTCTCTTA
AAAATCAAAGATGATCTCTATCACTTTGCCACCTGTTTGATGTGCAGTGGAAACTGGTTAAGCCAGTTGTTCATACTTCCTTTACAAATA
TAAAGATAGCTGTTTAGGATATTTTGTTACATTTTTGTAAATTTTTGAAATGCTAGTAATGTGTTTTCACCAGCAAGTATTTGTTGCAAA
CTTAATGTCATTTTCCTTAAGATGGTTACAGCTATGTAACCTGTATTATTCTGGACGGACTTATTAAAATACAAACAGACAAAAAATAAA
ACAAAACTTGAGTTCTATTTACCTTGCACATTTTTTGTTGTTACAGTGAAAAAAATGGTCCAAGAAAATGTTTGCCATTTTTGCATTGTT
TCGTTTTTAACTGGAACATTTAGAAAGAAGGAAATGAATGTGCATTTTATTAATTCCTTAGGGGCACAAGGAGGACAATAATAGCTGATC
TTTTGAAATTTGAAAAACGTCTTTAGATGACCAAGCAAAAAGACTTTAAAAAATGGTAATGAAAATGGAATGCAGCTACTGCAGCTAATA
AAAAATTTTAGATAGCAATTGTTACAACCATATGCCTTTATAGCTAGACATTAGAATTATGATAGCATGAGTTTATACATTCTATTATTT
TTCCTCCCTTTCTCATGTTTTTATAAATAGGTAATAAAAAATGTTTTGCCTGCCAATTGAATGATTTCGTAGCTGAAGTAGAAACATTTA
GGTTTCTGTAGCATTAAATTGTGAAGACAACTGGAGTGGTACTTACTGAAGAAACTCTCTGTATGTCCTAGAATAAGAAGCAATGATGTG
CTGCTTCTGATTTTTCTTGCATTTTAAATTCTCAGCCAACCTACAGCCATGATCTTTAGCACAGTGATATCACCATGACTTCACAGACAT

>72966_72966_1_RBM6-ARL6IP5_RBM6_chr3_50000118_ENST00000266022_ARL6IP5_chr3_69150989_ENST00000273258_length(amino acids)=144AA_BP=13
MWGDSRPANRTGPFRFLSPFNMILGGIVVVLVFTGFVWAAHNKDVLRRMKKRYPTTFVMVVMLASYFLISMFGGVMVFVFGITFPLLLMF

--------------------------------------------------------------
>72966_72966_2_RBM6-ARL6IP5_RBM6_chr3_50000118_ENST00000266022_ARL6IP5_chr3_69150989_ENST00000478935_length(transcript)=1549nt_BP=303nt
ACGGCGGGAGTAAGAGTCTGCGGGACCGGCAGCTGTACTTCATCTCCCAGCGGGCCGAGCGCTGAAGGCAGCGGCGCGGCGCCTTTGTGG
TAGCAGTGGCCCCGCGCGGAGGAAGTTCCGGTGTCCGCGGCGCTGGGTCGGTGGCGGAGGCTGAGGAGAAGGAGGAGCGGGCCGTGGAGG
CTTCGCCGCCTAGGTACTGCTATAACCAGAATTTGGTAGAAAAAGGATTTACTTGTTGGGGCCCTCTTGATAAAAAGAGATGTGGGGGGA
TTCTCGACCTGCTAACAGAACTGGACCTTTTCGGTTTCTGAGTCCCTTCAACCCTCCTATTGTGTCTGAAGTTTCACGTGTGTTTATGAA
ATCTAATGGGAAATGGATCACACGATTTCTTTAAGGGAATTAAAAAAAATAAAAGAATTACGGCTTTTACAGCAACAATACGATTATCTT
ATAGGAAAAAAAAAATCATTGTAAAGTATCAAGACAATACGAGTAAATGAAAAGGCTGTTAAAGTAGATGACATCATGTGTTAGCCTGTT
CCTAATCCCCTAGAATTGTAATGTGTGGGATATAAATTAGTTTTTATTATTCTCTTAAAAATCAAAGATGATCTCTATCACTTTGCCACC
TGTTTGATGTGCAGTGGAAACTGGTTAAGCCAGTTGTTCATACTTCCTTTACAAATATAAAGATAGCTGTTTAGGATATTTTGTTACATT
TTTGTAAATTTTTGAAATGCTAGTAATGTGTTTTCACCAGCAAGTATTTGTTGCAAACTTAATGTCATTTTCCTTAAGATGGTTACAGCT
ATGTAACCTGTATTATTCTGGACGGACTTATTAAAATACAAACAGACAAAAAATAAAACAAAACTTGAGTTCTATTTACCTTGCACATTT
TTTGTTGTTACAGTGAAAAAAATGGTCCAAGAAAATGTTTGCCATTTTTGCATTGTTTCGTTTTTAACTGGAACATTTAGAAAGAAGGAA
ATGAATGTGCATTTTATTAATTCCTTAGGGGCACAAGGAGGACAATAATAGCTGATCTTTTGAAATTTGAAAAACGTCTTTAGATGACCA
AGCAAAAAGACTTTAAAAAATGGTAATGAAAATGGAATGCAGCTACTGCAGCTAATAAAAAATTTTAGATAGCAATTGTTACAACCATAT
GCCTTTATAGCTAGACATTAGAATTATGATAGCATGAGTTTATACATTCTATTATTTTTCCTCCCTTTCTCATGTTTTTATAAATAGGTA
ATAAAAAATGTTTTGCCTGCCAATTGAATGATTTCGTAGCTGAAGTAGAAACATTTAGGTTTCTGTAGCATTAAATTGTGAAGACAACTG
GAGTGGTACTTACTGAAGAAACTCTCTGTATGTCCTAGAATAAGAAGCAATGATGTGCTGCTTCTGATTTTTCTTGCATTTTAAATTCTC
AGCCAACCTACAGCCATGATCTTTAGCACAGTGATATCACCATGACTTCACAGACATGGTCTAGAATCTGTACCCTTACCCACATATGAA

>72966_72966_2_RBM6-ARL6IP5_RBM6_chr3_50000118_ENST00000266022_ARL6IP5_chr3_69150989_ENST00000478935_length(amino acids)=67AA_BP=

--------------------------------------------------------------

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Fusion Gene PPI Analysis for RBM6-ARL6IP5


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-ARL6IP5


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-ARL6IP5


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