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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:RAB20-ING1 (FusionGDB2 ID:71218)

Fusion Gene Summary for RAB20-ING1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB20-ING1
Fusion gene ID: 71218
HgeneTgene
Gene symbol

RAB20

ING1

Gene ID

55647

3621

Gene nameRAB20, member RAS oncogene familyinhibitor of growth family member 1
Synonyms-p24ING1c|p33|p33ING1|p33ING1b|p47|p47ING1a
Cytomap

13q34

13q34

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-20inhibitor of growth protein 1growth inhibitor ING1growth inhibitory protein ING1tumor suppressor ING1
Modification date2020031320200313
UniProtAcc.

Q9UK53

Ensembl transtripts involved in fusion geneENST00000267328, ENST00000464141, 
ENST00000375774, ENST00000375775, 
ENST00000333219, ENST00000338450, 
Fusion gene scores* DoF score4 X 2 X 2=167 X 5 X 4=140
# samples 67
** MAII scorelog2(6/16*10)=1.90689059560852
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB20 [Title/Abstract] AND ING1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointING1(111366632)-RAB20(111176544), # samples:1
RAB20(111213695)-ING1(111371576), # samples:1
Anticipated loss of major functional domain due to fusion event.RAB20-ING1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RAB20-ING1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
RAB20-ING1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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 RAB20 (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 ING1 (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-BR-8078-01ARAB20chr13

111213695

-ING1chr13

111371576

+


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Fusion Gene ORF analysis for RAB20-ING1

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
5CDS-3UTRENST00000267328ENST00000464141RAB20chr13

111213695

-ING1chr13

111371576

+
5CDS-5UTRENST00000267328ENST00000375774RAB20chr13

111213695

-ING1chr13

111371576

+
5CDS-5UTRENST00000267328ENST00000375775RAB20chr13

111213695

-ING1chr13

111371576

+
Frame-shiftENST00000267328ENST00000333219RAB20chr13

111213695

-ING1chr13

111371576

+
In-frameENST00000267328ENST00000338450RAB20chr13

111213695

-ING1chr13

111371576

+

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)
ENST00000267328RAB20chr13111213695-ENST00000338450ING1chr13111371576+13333861421089315

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
ENST00000267328ENST00000338450RAB20chr13111213695-ING1chr13111371576+0.0079222870.99207765

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Fusion Genomic Features for RAB20-ING1


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)
RAB20chr13111213694-ING1chr13111371575+7.53E-101
RAB20chr13111213694-ING1chr13111371575+7.53E-101

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 RAB20-ING1


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/chr13:111366632/chr13:111176544)
- 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
.ING1

Q9UK53

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: Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumor suppressor gene. {ECO:0000269|PubMed:9440695}.

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
HgeneRAB20chr13:111213695chr13:111371576ENST00000267328-1233_4157235.0MotifEffector region
HgeneRAB20chr13:111213695chr13:111371576ENST00000267328-1212_1957235.0Nucleotide bindingGTP
HgeneRAB20chr13:111213695chr13:111371576ENST00000267328-1255_5957235.0Nucleotide bindingGTP
TgeneING1chr13:111213695chr13:111371576ENST0000033321902405_42245280.0RegionPBR
TgeneING1chr13:111213695chr13:111371576ENST0000033845002405_4221236.0RegionPBR
TgeneING1chr13:111213695chr13:111371576ENST0000037577402405_422188423.0RegionPBR
TgeneING1chr13:111213695chr13:111371576ENST0000037577502405_4220211.0RegionPBR
TgeneING1chr13:111213695chr13:111371576ENST0000033321902353_40245280.0Zinc fingerPHD-type
TgeneING1chr13:111213695chr13:111371576ENST0000033845002353_4021236.0Zinc fingerPHD-type
TgeneING1chr13:111213695chr13:111371576ENST0000037577402353_402188423.0Zinc fingerPHD-type
TgeneING1chr13:111213695chr13:111371576ENST0000037577502353_4020211.0Zinc fingerPHD-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRAB20chr13:111213695chr13:111371576ENST00000267328-12113_11657235.0Nucleotide bindingGTP


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Fusion Gene Sequence for RAB20-ING1


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.
>71218_71218_1_RAB20-ING1_RAB20_chr13_111213695_ENST00000267328_ING1_chr13_111371576_ENST00000338450_length(transcript)=1333nt_BP=386nt
GTGGGCTCCGTGCTCTGCACCCAGCTCCTTCCCGGGCGCGCACACGCGCTTCCTCTCTTGAGCTCCCGGGCGTCCGGAGGCGAAGGTCCC
GGAGCGTTCACGAGAATCCGGGTCCCGGCGAGTCCGGGGTCCGCTCCTCCAGCTGCGCCCAGGGCGCACGAGCCGGCCAGCCTCGGGGAG
AGGGCGCGGGGGCGCTGGGGGTTCTTACGGGAAGATGAGGAAGCCCGACAGCAAGATCGTGCTCCTGGGGGACATGAACGTGGGGAAGAC
GTCGCTGCTGCAGCGGTATATGGAGCGGCGCTTCCCGGACACGGTCAGCACGGTGGGCGGCGCCTTCTACCTGAAGCAGTGGCGCTCCTA
CAACATCTCCATCTGGGACACCGCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAA
GCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGA
GCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGG
CAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGA
GAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAA
GAAGCGCTCCAAGGCCAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTGCAACCA
GGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACC
CAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTA
CAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGG
AGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCAT

>71218_71218_1_RAB20-ING1_RAB20_chr13_111213695_ENST00000267328_ING1_chr13_111371576_ENST00000338450_length(amino acids)=315AA_BP=81
MRPGRTSRPASGRGRGGAGGSYGKMRKPDSKIVLLGDMNVGKTSLLQRYMERRFPDTVSTVGGAFYLKQWRSYNISIWDTAEILKELDEC
YERFSRETDGAQKRRMLHCVQRALIRSQELGDEKIQIVSQMVELVENRTRQVDSHVELFEAQQELGDTAGNSGKAGADRPKGEAAAQADK
PNSKRSRRQRNNENRENASSNHDHDDGASGTPKEKKAKTSKKKKRSKAKAEREASPADLPIDPNEPTYCLCNQVSYGEMIGCDNDECPIE

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Fusion Gene PPI Analysis for RAB20-ING1


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 RAB20-ING1


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 RAB20-ING1


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