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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:IFRD2-RBM5 (FusionGDB2 ID:38238)

Fusion Gene Summary for IFRD2-RBM5

check button Fusion gene summary
Fusion gene informationFusion gene name: IFRD2-RBM5
Fusion gene ID: 38238
HgeneTgene
Gene symbol

IFRD2

RBM5

Gene ID

7866

10181

Gene nameinterferon related developmental regulator 2RNA binding motif protein 5
SynonymsIFNRP|SKMc15|SM15G15|H37|LUCA-15|LUCA15|RMB5
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
Descriptioninterferon-related developmental regulator 2interferon-related proteinRNA-binding protein 5putative tumor suppressor LUCA15renal carcinoma antigen NY-REN-9
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000417626, ENST00000436390, 
ENST00000429673, ENST00000336089, 
ENST00000484043, 		ENST00000347869, 
ENST00000469838, ENST00000441812, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 7 X 5=280
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IFRD2 [Title/Abstract] AND RBM5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIFRD2(50329647)-RBM5(50150815), # samples:2
Anticipated loss of major functional domain due to fusion event.IFRD2-RBM5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
IFRD2-RBM5 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
IFRD2-RBM5 seems lost the major protein functional domain in Tgene partner, which is a essential 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
TgeneRBM5

GO:0000245

spliceosomal complex assembly

18951082

TgeneRBM5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

18840686|18951082

TgeneRBM5

GO:0043065

positive regulation of apoptotic process

18840686


check buttonFusion gene breakpoints across IFRD2 (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 RBM5 (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-L5-A8NTIFRD2chr3

50329647

-RBM5chr3

50150815

+
ChimerDB4ESCATCGA-L5-A8NTIFRD2chr3

50329647

-RBM5chr3

50150815

+


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Fusion Gene ORF analysis for IFRD2-RBM5

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
In-frameENST00000417626ENST00000347869IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-intronENST00000417626ENST00000469838IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-3UTRENST00000417626ENST00000441812IFRD2chr3

50329647

-RBM5chr3

50150815

+
Frame-shiftENST00000436390ENST00000347869IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-intronENST00000436390ENST00000469838IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-3UTRENST00000436390ENST00000441812IFRD2chr3

50329647

-RBM5chr3

50150815

+
In-frameENST00000429673ENST00000347869IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-intronENST00000429673ENST00000469838IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-3UTRENST00000429673ENST00000441812IFRD2chr3

50329647

-RBM5chr3

50150815

+
Frame-shiftENST00000336089ENST00000347869IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-intronENST00000336089ENST00000469838IFRD2chr3

50329647

-RBM5chr3

50150815

+
5CDS-3UTRENST00000336089ENST00000441812IFRD2chr3

50329647

-RBM5chr3

50150815

+
intron-3CDSENST00000484043ENST00000347869IFRD2chr3

50329647

-RBM5chr3

50150815

+
intron-intronENST00000484043ENST00000469838IFRD2chr3

50329647

-RBM5chr3

50150815

+
intron-3UTRENST00000484043ENST00000441812IFRD2chr3

50329647

-RBM5chr3

50150815

+

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)
ENST00000417626IFRD2chr350329647-ENST00000347869RBM5chr350150815+19373793941371325
ENST00000429673IFRD2chr350329647-ENST00000347869RBM5chr350150815+18082502651242325

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
ENST00000417626ENST00000347869IFRD2chr350329647-RBM5chr350150815+0.0066531340.9933469
ENST00000429673ENST00000347869IFRD2chr350329647-RBM5chr350150815+0.0063491480.99365085

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Fusion Genomic Features for IFRD2-RBM5


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)
IFRD2chr350329647-RBM5chr350150815+0.0014211490.9985789
IFRD2chr350329647-RBM5chr350150815+0.0014211490.9985789

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 IFRD2-RBM5


check button Go to

FGviewer for the breakpoints of chr3:50329647-chr3:50150815

.
- 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
..
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: 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.

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
TgeneRBM5chr3:50329647chr3:50150815ENST000003478691625743_789485.0816.0DomainG-patch
TgeneRBM5chr3:50329647chr3:50150815ENST0000046983805231_3150144.0DomainRRM 2
TgeneRBM5chr3:50329647chr3:50150815ENST0000046983805743_7890144.0DomainG-patch
TgeneRBM5chr3:50329647chr3:50150815ENST000004698380598_1780144.0DomainRRM 1
TgeneRBM5chr3:50329647chr3:50150815ENST000003478691625647_677485.0816.0Zinc fingerC2H2-type%3B atypical
TgeneRBM5chr3:50329647chr3:50150815ENST0000046983805181_2100144.0Zinc fingerRanBP2-type
TgeneRBM5chr3:50329647chr3:50150815ENST0000046983805647_6770144.0Zinc fingerC2H2-type%3B atypical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneRBM5chr3:50329647chr3:50150815ENST000003478691625231_315485.0816.0DomainRRM 2
TgeneRBM5chr3:50329647chr3:50150815ENST00000347869162598_178485.0816.0DomainRRM 1
TgeneRBM5chr3:50329647chr3:50150815ENST000003478691625181_210485.0816.0Zinc fingerRanBP2-type


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Fusion Gene Sequence for IFRD2-RBM5


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.
>In-frame_ENST00000417626_ENST00000347869_TCGA-L5-A8NT_IFRD2_chr3_50329647_-_RBM5_chr3_50150815_length(transcript)=1937nt_BP=379nt
GTCGGCTGGTGGGCCCCAGGCGTGGACTACCATTCCCATGGTGCTCTACGCGCAGCTAGCCGCCGTCGCCTGCGCGCTCAGGCCTCTGGG
ATTAGTAGTTTTAGCCTCGTGGATGTGGGCCTGAATCGGATGGCCTGGAACTCGCCTTCCCGGCGACCTGTTTGGCAGGGCGGGGCGCCT
CGCGAAGATGGTGGCGCGCGTGGCGTGTGGCTCCCGTCGTCTGGCCAAGTCTCAGCGCAGCGCACCGGCCGGCGTCTCGTTGGCCTGGAG
CCCACACCCACCGGGTCCCTGACCCCGCGCCCCCCGCGCCCGGTTCCCGGCATGCCTCGCGCCCGTAAGGGCAACACGCTCCGGAAGGGT
GGTCAGCGCCGTGGAGGAGTACTACTATAATTCCTTGACCCAGCAGTACCTTTACTGGGATGGGGAAAAAGAGACCTACGTGCCAGCTGC
AGAGTCTAGCTCCCACCAGCAGTCGGGCCTGCCTCCTGCAAAAGAGGGGAAAGAGAAGAAGGAGAAACCCAAGAGCAAAACAGCCCAGCA
GATTGCCAAAGACATGGAACGCTGGGCTAAGAGTTTGAATAAGCAGAAAGAAAACTTTAAAAATAGCTTTCAGCCTGTCAATTCCTTGAG
GGAAGAAGAAAGGAGAGAATCTGCTGCAGCAGACGCTGGCTTTGCTCTCTTTGAGAAGAAGGGAGCCTTAGCTGAAAGGCAGCAGCTCAT
CCCAGAATTGGTGCGAAATGGAGATGAGGAGAATCCCCTCAAAAGGGGTCTGGTTGCTGCTTACAGTGGTGACAGTGACAATGAGGAGGA
GCTGGTGGAGAGACTTGAGAGTGAGGAAGAGAAGCTAGCTGACTGGAAGAAGATGGCCTGTCTGCTCTGCCGGCGCCAGTTCCCGAACAA
AGATGCCCTAGTCAGGCACCAGCAACTCTCAGACCTTCACAAGCAAAACATGGACATCTATCGACGATCCAGGCTGAGCGAGCAGGAGCT
GGAAGCCTTGGAGCTAAGGGAGAGAGAGATGAAATACCGAGACCGAGCTGCAGAAAGACGGGAGAAGTACGGCATTCCAGAACCTCCAGA
GCCCAAGCGCAAGAAGCAGTTTGATGCCGGCACTGTGAATTACGAGCAACCCACCAAAGATGGCATTGACCACAGTAACATTGGCAACAA
GATGCTGCAGGCCATGGGCTGGCGGGAAGGCTCTGGCTTGGGACGAAAGTGTCAAGGCATTACGGCTCCCATTGAGGCTCAAGTTCGGCT
AAAGGGAGCTGGCCTAGGAGCCAAAGGCAGCGCATATGGTTTGTCGGGCGCCGATTCCTACAAAGATGCTGTCCGGAAAGCCATGTTTGC
CCGGTTCACTGAGATGGAGTGAGAGAGAGAGAGAGAGAGAGATGACAAGGAGCACAAGAAGTGGTCCATCTCCCGAATTCGCTGTTACCG
CCTGTCTCTTTAAGGGCATGCCTTGTGCTGTTAATAGATCTTAGGGTGAACCACTTCATTCTGCAGGGTTCTCCCTCCCACCTTAAAGAA
GTTCCCCTTATGTGGGTTGCCTGGTGAATGGCCTTCCTTCCCGCCAGAGGGCTTGTGAACAGACCGGAGAGGACAGTGGATTGTTTATAC
TCCAGTGTACATAGTGTAATGTAGCGTGTTTACATGTGTAGCCTATGTTGTGGTCCATCAGCCCCTCACATTCCTAGGGGTTTGAGATGC
TGTAGGTGGTATGTGACACCAAAGCCACCTCTGTCATTTGTTGTGATGTCTTTTCTTGGCAAAAGCCTTGTGTATATTTGTATATTACAC
ATTTGTACAGAATTTTGGAAGATTTTCAGTCTAGTTGCCAAATCTGGCTCCTTTACAAAAGAAATACCTTGAGAAATGGGTGTCCTGTGT

>In-frame_ENST00000417626_ENST00000347869_TCGA-L5-A8NT_IFRD2_chr3_50329647_-_RBM5_chr3_50150815_length(amino acids)=325AA_start in transcript=394_stop in transcript=1371
MTQQYLYWDGEKETYVPAAESSSHQQSGLPPAKEGKEKKEKPKSKTAQQIAKDMERWAKSLNKQKENFKNSFQPVNSLREEERRESAAAD
AGFALFEKKGALAERQQLIPELVRNGDEENPLKRGLVAAYSGDSDNEEELVERLESEEEKLADWKKMACLLCRRQFPNKDALVRHQQLSD
LHKQNMDIYRRSRLSEQELEALELREREMKYRDRAAERREKYGIPEPPEPKRKKQFDAGTVNYEQPTKDGIDHSNIGNKMLQAMGWREGS

--------------------------------------------------------------
>In-frame_ENST00000429673_ENST00000347869_TCGA-L5-A8NT_IFRD2_chr3_50329647_-_RBM5_chr3_50150815_length(transcript)=1808nt_BP=250nt
ATGGCCTGGAACTCGCCTTCCCGGCGACCTGTTTGGCAGGGCGGGGCGCCTCGCGAAGATGGTGGCGCGCGTGGCGTGTGGCTCCCGTCG
TCTGGCCAAGTCTCAGCGCAGCGCACCGGCCGGCGTCTCGTTGGCCTGGAGCCCACACCCACCGGGTCCCTGACCCCGCGCCCCCCGCGC
CCGGTTCCCGGCATGCCTCGCGCCCGTAAGGGCAACACGCTCCGGAAGGGTGGTCAGCGCCGTGGAGGAGTACTACTATAATTCCTTGAC
CCAGCAGTACCTTTACTGGGATGGGGAAAAAGAGACCTACGTGCCAGCTGCAGAGTCTAGCTCCCACCAGCAGTCGGGCCTGCCTCCTGC
AAAAGAGGGGAAAGAGAAGAAGGAGAAACCCAAGAGCAAAACAGCCCAGCAGATTGCCAAAGACATGGAACGCTGGGCTAAGAGTTTGAA
TAAGCAGAAAGAAAACTTTAAAAATAGCTTTCAGCCTGTCAATTCCTTGAGGGAAGAAGAAAGGAGAGAATCTGCTGCAGCAGACGCTGG
CTTTGCTCTCTTTGAGAAGAAGGGAGCCTTAGCTGAAAGGCAGCAGCTCATCCCAGAATTGGTGCGAAATGGAGATGAGGAGAATCCCCT
CAAAAGGGGTCTGGTTGCTGCTTACAGTGGTGACAGTGACAATGAGGAGGAGCTGGTGGAGAGACTTGAGAGTGAGGAAGAGAAGCTAGC
TGACTGGAAGAAGATGGCCTGTCTGCTCTGCCGGCGCCAGTTCCCGAACAAAGATGCCCTAGTCAGGCACCAGCAACTCTCAGACCTTCA
CAAGCAAAACATGGACATCTATCGACGATCCAGGCTGAGCGAGCAGGAGCTGGAAGCCTTGGAGCTAAGGGAGAGAGAGATGAAATACCG
AGACCGAGCTGCAGAAAGACGGGAGAAGTACGGCATTCCAGAACCTCCAGAGCCCAAGCGCAAGAAGCAGTTTGATGCCGGCACTGTGAA
TTACGAGCAACCCACCAAAGATGGCATTGACCACAGTAACATTGGCAACAAGATGCTGCAGGCCATGGGCTGGCGGGAAGGCTCTGGCTT
GGGACGAAAGTGTCAAGGCATTACGGCTCCCATTGAGGCTCAAGTTCGGCTAAAGGGAGCTGGCCTAGGAGCCAAAGGCAGCGCATATGG
TTTGTCGGGCGCCGATTCCTACAAAGATGCTGTCCGGAAAGCCATGTTTGCCCGGTTCACTGAGATGGAGTGAGAGAGAGAGAGAGAGAG
AGATGACAAGGAGCACAAGAAGTGGTCCATCTCCCGAATTCGCTGTTACCGCCTGTCTCTTTAAGGGCATGCCTTGTGCTGTTAATAGAT
CTTAGGGTGAACCACTTCATTCTGCAGGGTTCTCCCTCCCACCTTAAAGAAGTTCCCCTTATGTGGGTTGCCTGGTGAATGGCCTTCCTT
CCCGCCAGAGGGCTTGTGAACAGACCGGAGAGGACAGTGGATTGTTTATACTCCAGTGTACATAGTGTAATGTAGCGTGTTTACATGTGT
AGCCTATGTTGTGGTCCATCAGCCCCTCACATTCCTAGGGGTTTGAGATGCTGTAGGTGGTATGTGACACCAAAGCCACCTCTGTCATTT
GTTGTGATGTCTTTTCTTGGCAAAAGCCTTGTGTATATTTGTATATTACACATTTGTACAGAATTTTGGAAGATTTTCAGTCTAGTTGCC
AAATCTGGCTCCTTTACAAAAGAAATACCTTGAGAAATGGGTGTCCTGTGTCTCTTTATTCTTGGGTGGGTAGGTGGGTCAAGCATGTCT

>In-frame_ENST00000429673_ENST00000347869_TCGA-L5-A8NT_IFRD2_chr3_50329647_-_RBM5_chr3_50150815_length(amino acids)=325AA_start in transcript=265_stop in transcript=1242
MTQQYLYWDGEKETYVPAAESSSHQQSGLPPAKEGKEKKEKPKSKTAQQIAKDMERWAKSLNKQKENFKNSFQPVNSLREEERRESAAAD
AGFALFEKKGALAERQQLIPELVRNGDEENPLKRGLVAAYSGDSDNEEELVERLESEEEKLADWKKMACLLCRRQFPNKDALVRHQQLSD
LHKQNMDIYRRSRLSEQELEALELREREMKYRDRAAERREKYGIPEPPEPKRKKQFDAGTVNYEQPTKDGIDHSNIGNKMLQAMGWREGS

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Fusion Gene PPI Analysis for IFRD2-RBM5


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 IFRD2-RBM5


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 IFRD2-RBM5


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