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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:ILDR1-RAP1B (FusionGDB2 ID:39605)

Fusion Gene Summary for ILDR1-RAP1B

check button Fusion gene summary
Fusion gene informationFusion gene name: ILDR1-RAP1B
Fusion gene ID: 39605
HgeneTgene
Gene symbol

ILDR1

RAP1B

Gene ID

286676

5908

Gene nameimmunoglobulin like domain containing receptor 1RAP1B, member of RAS oncogene family
SynonymsDFNB42|ILDR1alpha|ILDR1alpha'|ILDR1betaK-REV|RAL1B
Cytomap

3q13.33

12q15

Type of geneprotein-codingprotein-coding
Descriptionimmunoglobulin-like domain-containing receptor 1immunoglobulin-like domain-containing receptor 1 alphaimmunoglobulin-like domain-containing receptor 1 betaras-related protein Rap-1bGTP-binding protein smg p21BRAS-related protein RAP1BRas family small GTP binding protein RAP1Bsmall GTP binding protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000273691, ENST00000344209, 
ENST00000393631, ENST00000460554, 
ENST00000462014, 		ENST00000250559, 
ENST00000341355, ENST00000393436, 
ENST00000450214, ENST00000537460, 
ENST00000539091, ENST00000540209, 
ENST00000541216, ENST00000542145, 
ENST00000543697, ENST00000378985, 
ENST00000463493, ENST00000543393, 
Fusion gene scores* DoF score1 X 1 X 1=116 X 11 X 8=1408
# samples 116
** MAII scorelog2(1/1*10)=3.32192809488736log2(16/1408*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ILDR1 [Title/Abstract] AND RAP1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointILDR1(121740867)-RAP1B(69042479), # 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
TgeneRAP1B

GO:0071320

cellular response to cAMP

21840392


check buttonFusion gene breakpoints across ILDR1 (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 RAP1B (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
ChimerDB4Non-CancerERR315407ILDR1chr3

121740867

-RAP1Bchr12

69042479

+


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Fusion Gene ORF analysis for ILDR1-RAP1B

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-5UTRENST00000273691ENST00000250559ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000341355ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000393436ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000450214ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000537460ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000539091ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000540209ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000541216ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000542145ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000273691ENST00000543697ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000250559ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000341355ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000393436ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000450214ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000537460ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000539091ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000540209ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000541216ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000542145ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000344209ENST00000543697ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000250559ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000341355ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000393436ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000450214ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000537460ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000539091ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000540209ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000541216ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000542145ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-5UTRENST00000393631ENST00000543697ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000273691ENST00000378985ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000273691ENST00000463493ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000273691ENST00000543393ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000344209ENST00000378985ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000344209ENST00000463493ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000344209ENST00000543393ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000393631ENST00000378985ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000393631ENST00000463493ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5CDS-intronENST00000393631ENST00000543393ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000250559ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000341355ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000393436ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000450214ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000537460ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000539091ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000540209ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000541216ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000542145ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-5UTRENST00000460554ENST00000543697ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-intronENST00000460554ENST00000378985ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-intronENST00000460554ENST00000463493ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
5UTR-intronENST00000460554ENST00000543393ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000250559ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000341355ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000393436ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000450214ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000537460ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000539091ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000540209ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000541216ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000542145ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-5UTRENST00000462014ENST00000543697ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-intronENST00000462014ENST00000378985ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-intronENST00000462014ENST00000463493ILDR1chr3

121740867

-RAP1Bchr12

69042479

+
intron-intronENST00000462014ENST00000543393ILDR1chr3

121740867

-RAP1Bchr12

69042479

+

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 ILDR1-RAP1B


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)
ILDR1chr3121740866-RAP1Bchr1269042485+0.07701950.9229805
ILDR1chr3121740866-RAP1Bchr1269042485+0.07701950.9229805

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.
genomic feature of top 1%

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Fusion Protein Features for ILDR1-RAP1B


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/:121740867/:69042479)
- 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
..
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: 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}.

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 ILDR1-RAP1B


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 ILDR1-RAP1B


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 ILDR1-RAP1B


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 ILDR1-RAP1B


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