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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:IQCB1-ILDR1 (FusionGDB2 ID:40101)

Fusion Gene Summary for IQCB1-ILDR1

check button Fusion gene summary
Fusion gene informationFusion gene name: IQCB1-ILDR1
Fusion gene ID: 40101
HgeneTgene
Gene symbol

IQCB1

ILDR1

Gene ID

9657

286676

Gene nameIQ motif containing B1immunoglobulin like domain containing receptor 1
SynonymsNPHP5|PIQ|SLSN5DFNB42|ILDR1alpha|ILDR1alpha'|ILDR1beta
Cytomap

3q13.33|3q21.1

3q13.33

Type of geneprotein-codingprotein-coding
DescriptionIQ calmodulin-binding motif-containing protein 1nephrocystin 5p53 and DNA damage-regulated IQ motif proteinimmunoglobulin-like domain-containing receptor 1immunoglobulin-like domain-containing receptor 1 alphaimmunoglobulin-like domain-containing receptor 1 beta
Modification date2020031320200313
UniProtAcc

Q15051

Q86SU0

Ensembl transtripts involved in fusion geneENST00000310864, ENST00000349820, 
ENST00000460554, ENST00000273691, 
ENST00000344209, ENST00000393631, 
ENST00000462014, 
Fusion gene scores* DoF score7 X 6 X 3=1262 X 2 X 2=8
# samples 72
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: IQCB1 [Title/Abstract] AND ILDR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIQCB1(121508920)-ILDR1(121707255), # samples:2
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

check buttonFusion gene breakpoints across IQCB1 (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 ILDR1 (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
ChimerDB4BRCATCGA-AR-A24O-01AIQCB1chr3

121508920

-ILDR1chr3

121707255

-


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Fusion Gene ORF analysis for IQCB1-ILDR1

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-intronENST00000310864ENST00000460554IQCB1chr3

121508920

-ILDR1chr3

121707255

-
5CDS-intronENST00000349820ENST00000460554IQCB1chr3

121508920

-ILDR1chr3

121707255

-
Frame-shiftENST00000310864ENST00000273691IQCB1chr3

121508920

-ILDR1chr3

121707255

-
Frame-shiftENST00000310864ENST00000344209IQCB1chr3

121508920

-ILDR1chr3

121707255

-
Frame-shiftENST00000310864ENST00000393631IQCB1chr3

121508920

-ILDR1chr3

121707255

-
Frame-shiftENST00000349820ENST00000273691IQCB1chr3

121508920

-ILDR1chr3

121707255

-
Frame-shiftENST00000349820ENST00000344209IQCB1chr3

121508920

-ILDR1chr3

121707255

-
Frame-shiftENST00000349820ENST00000393631IQCB1chr3

121508920

-ILDR1chr3

121707255

-
In-frameENST00000310864ENST00000462014IQCB1chr3

121508920

-ILDR1chr3

121707255

-
In-frameENST00000349820ENST00000462014IQCB1chr3

121508920

-ILDR1chr3

121707255

-

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)
ENST00000310864IQCB1chr3121508920-ENST00000462014ILDR1chr3121707255-140713441731363396
ENST00000349820IQCB1chr3121508920-ENST00000462014ILDR1chr3121707255-963900128919263

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
ENST00000310864ENST00000462014IQCB1chr3121508920-ILDR1chr3121707255-0.0014954370.99850464
ENST00000349820ENST00000462014IQCB1chr3121508920-ILDR1chr3121707255-0.0015395580.9984604

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Fusion Genomic Features for IQCB1-ILDR1


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)

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.

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Fusion Protein Features for IQCB1-ILDR1


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/chr3:121508920/chr3:121707255)
- 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
IQCB1

Q15051

ILDR1

Q86SU0

FUNCTION: Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655). {ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655}.FUNCTION: Putative membrane receptor.

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
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115336_373376599.0Coiled coilOntology_term=ECO:0000255
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115294_317376599.0DomainIQ 1
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115318_338376599.0DomainIQ 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812336_373243466.0Coiled coilOntology_term=ECO:0000255
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115387_416376599.0DomainIQ 3
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115417_437376599.0DomainIQ 4
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812294_317243466.0DomainIQ 1
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812318_338243466.0DomainIQ 2
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812387_416243466.0DomainIQ 3
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812417_437243466.0DomainIQ 4
TgeneILDR1chr3:121508920chr3:121707255ENST0000027369157188_212489503.0Compositional biasNote=Cys-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000027369157431_466489503.0Compositional biasNote=Arg-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000034420968188_212533547.0Compositional biasNote=Cys-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000034420968431_466533547.0Compositional biasNote=Arg-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000039363146188_212444458.0Compositional biasNote=Cys-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000039363146431_466444458.0Compositional biasNote=Arg-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000046201446188_212501515.0Compositional biasNote=Cys-rich
TgeneILDR1chr3:121508920chr3:121707255ENST0000046201446431_466501515.0Compositional biasNote=Arg-rich
TgeneILDR1chr3:121508920chr3:121707255ENST000002736915724_162489503.0DomainNote=Ig-like V-type
TgeneILDR1chr3:121508920chr3:121707255ENST000003442096824_162533547.0DomainNote=Ig-like V-type
TgeneILDR1chr3:121508920chr3:121707255ENST000003936314624_162444458.0DomainNote=Ig-like V-type
TgeneILDR1chr3:121508920chr3:121707255ENST000004620144624_162501515.0DomainNote=Ig-like V-type
TgeneILDR1chr3:121508920chr3:121707255ENST0000027369157189_546489503.0Topological domainCytoplasmic
TgeneILDR1chr3:121508920chr3:121707255ENST000002736915724_167489503.0Topological domainExtracellular
TgeneILDR1chr3:121508920chr3:121707255ENST0000034420968189_546533547.0Topological domainCytoplasmic
TgeneILDR1chr3:121508920chr3:121707255ENST000003442096824_167533547.0Topological domainExtracellular
TgeneILDR1chr3:121508920chr3:121707255ENST0000039363146189_546444458.0Topological domainCytoplasmic
TgeneILDR1chr3:121508920chr3:121707255ENST000003936314624_167444458.0Topological domainExtracellular
TgeneILDR1chr3:121508920chr3:121707255ENST0000046201446189_546501515.0Topological domainCytoplasmic
TgeneILDR1chr3:121508920chr3:121707255ENST000004620144624_167501515.0Topological domainExtracellular
TgeneILDR1chr3:121508920chr3:121707255ENST0000027369157168_188489503.0TransmembraneHelical
TgeneILDR1chr3:121508920chr3:121707255ENST0000034420968168_188533547.0TransmembraneHelical
TgeneILDR1chr3:121508920chr3:121707255ENST0000039363146168_188444458.0TransmembraneHelical
TgeneILDR1chr3:121508920chr3:121707255ENST0000046201446168_188501515.0TransmembraneHelical


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Fusion Gene Sequence for IQCB1-ILDR1


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.
>40101_40101_1_IQCB1-ILDR1_IQCB1_chr3_121508920_ENST00000310864_ILDR1_chr3_121707255_ENST00000462014_length(transcript)=1407nt_BP=1344nt
CGCCTCCAGGCCCCTTCCCGCGTCGCGACGCACGCTGCCCCGGAAGGCCGCGGCGCTGTAGTGCGGCGTGGGAGCCCCAGGTTCTTTAGT
GGAAGAACGCGAAGCGAGGATGAGTGATCCGTGGAGGCAGTAACAGGCGCGGCGAGGGAGAAGTGATTCCCGAAGAATCAAGGCTGGGCC
GGACCCGGTGGCCTGGCAACAGGGTAATAAGAGAAATGAAGCCAACAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAA
AAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTGAAGTTAAAAGAAATAATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAA
TCAAACAAGATATATATTGTTATGATCTCATTCAATATTGCCTCTTGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTA
CAATTTCCCAGCTTACACAGATATTAAGCCATTGCTGTGTGGGCTTGGAGCCAGGAGAAGATGCAGAGGAATTTTACAATGAATTACTTC
CATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGACAATTACAAACATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTAC
TACACTTTTTCCAAATTGTGACTGATTCTCTCTTCTGGCTTTTGGGAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATT
TCTTACATTTACTGCAAGCTGACAATGTCCAAATAGGATCTGCAGTCATGATGATGCTACAGAATATACTACAGATCAACAGTGGTGATT
TACTCAGAATAGGAAGAAAAGCCCTGTATTCAATTTTAGATGAAGTTATTTTCAAGCTTTTTTCAACTCCTAGTCCAGTTATAAGAAGTA
CTGCTACAAAACTCCTACTGTTGATGGCTGAATCCCATCAGGAAATTTTGATTTTACTGAGACAAAGTACCTGCTACAAAGGACTCAGAC
GTCTACTAAGTAAACAGGAAACTGGGACTGAATTCAGTCAAGAACTTAGACAGCTTGTTGGCCTTTTAAGCCCAATGGTCTATCAGGAAG
TAGAAGAGCAGAAACTACATCAAGCAGCATGCTTGATTCAAGCCTATTGGAAGGGTTTTCAGACAAGAAAGAGATTAAAGAAGCTTCCAT
CTGCTGTGATTGCTTTGCAGAGGAGTTTCAGATCCAAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAGGAAGAAGAGGACCTCA
AATTACAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAGGAGAAA

>40101_40101_1_IQCB1-ILDR1_IQCB1_chr3_121508920_ENST00000310864_ILDR1_chr3_121707255_ENST00000462014_length(amino acids)=396AA_BP=
MGRTRWPGNRVIREMKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGG
WTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQS
DHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKG
LRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEE

--------------------------------------------------------------
>40101_40101_2_IQCB1-ILDR1_IQCB1_chr3_121508920_ENST00000349820_ILDR1_chr3_121707255_ENST00000462014_length(transcript)=963nt_BP=900nt
GGCCGCGGCGCTGTAGTGCGGCGTGGGAGCCCCAGGTTCTTTAGTGGAAGAACGCGAAGCGAGGATGAGTGATCCGTGGAGGCAGTAACA
GGCGCGGCGAGGGAGAAGTGATTCCCGAAGAATCAAGGCTGGGCCGGACCCGGTGGCCTGGCAACAGGGTAATAAGAGAAATGAAGCCAA
CAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAAAAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTGAAGTTAAAAG
AAATAATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAATCAAACAAGATATATATTGTTATGATCTCATTCAATATTGCCTCT
TGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTACAATTTCCCAGCTTACACAGATATTAAGCCATTGCTGTGTGGGCT
TGGAGCCAGGAGAAGATGCAGAGGAATTTTACAATGAATTACTTCCATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGACAATTACAAA
CATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTACTACACTTTTTCCAAATTGTGACTGATTCTCTCTTCTGGCTTTTGG
GAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATTTCTTACATTTACTGCAAGCTGACAATGTCCAAATAGGATCTGCAG
TCATGATGATGCTACAGAATATACTACAGATCAACAGATCCAAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAGGAAGAAGAGG
ACCTCAAATTACAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAG

>40101_40101_2_IQCB1-ILDR1_IQCB1_chr3_121508920_ENST00000349820_ILDR1_chr3_121707255_ENST00000462014_length(amino acids)=263AA_BP=
MGRTRWPGNRVIREMKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGG
WTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQS

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

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Fusion Gene PPI Analysis for IQCB1-ILDR1


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
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-11151_157376.3333333333333599.0BBS1%2C BBS8 and BBS9
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-8121_157243.33333333333334466.0BBS1%2C BBS8 and BBS9


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115530_598376.3333333333333599.0BBS1%2C BBS2%2C BBS4%2C BBS7%2C BBS8 and BBS9
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812530_598243.33333333333334466.0BBS1%2C BBS2%2C BBS4%2C BBS7%2C BBS8 and BBS9
HgeneIQCB1chr3:121508920chr3:121707255ENST00000310864-1115287_598376.3333333333333599.0CEP290%2C BBS1%2C BBS2%2C BBS4%2C BBS5%2C BBS7%2C BBS8 and BBS9
HgeneIQCB1chr3:121508920chr3:121707255ENST00000349820-812287_598243.33333333333334466.0CEP290%2C BBS1%2C BBS2%2C BBS4%2C BBS5%2C BBS7%2C BBS8 and BBS9


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 IQCB1-ILDR1


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 IQCB1-ILDR1


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