Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:IRF5-IGKC (FusionGDB2 ID:HG3663TG3514)

Fusion Gene Summary for IRF5-IGKC

check button Fusion gene summary
Fusion gene informationFusion gene name: IRF5-IGKC
Fusion gene ID: hg3663tg3514
HgeneTgene
Gene symbol

IRF5

IGKC

Gene ID

3663

3514

Gene nameinterferon regulatory factor 5
SynonymsSLEB10
Cytomap('IRF5')('IGKC')

7q32.1

Type of geneprotein-coding
Descriptioninterferon regulatory factor 5
Modification date20200315
UniProtAcc

Q13568

P01834

Ensembl transtripts involved in fusion geneENST00000249375, ENST00000357234, 
ENST00000402030, ENST00000473745, 
ENST00000477535, 
Fusion gene scores* DoF score1 X 1 X 1=1160 X 66 X 20=211200
# samples 1149
** MAII scorelog2(1/1*10)=3.32192809488736log2(149/211200*10)=-7.14715369378365
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IRF5 [Title/Abstract] AND IGKC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIRF5(128587801)-IGKC(89157198), # samples:1
Anticipated loss of major functional domain due to fusion event.IRF5-IGKC seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
IRF5-IGKC seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneIRF5

GO:0032494

response to peptidoglycan

22412986

HgeneIRF5

GO:0032495

response to muramyl dipeptide

22412986

HgeneIRF5

GO:0045944

positive regulation of transcription by RNA polymerase II

12600985|22412986


check buttonFusion gene breakpoints across IRF5 (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 IGKC (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
ChimerDB4LUSCTCGA-43-3920IRF5chr7

128587801

+IGKCchr2

89157198

-


Top

Fusion Gene ORF analysis for IRF5-IGKC

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-frameENST00000249375ENST00000390237IRF5chr7

128587801

+IGKCchr2

89157198

-
In-frameENST00000357234ENST00000390237IRF5chr7

128587801

+IGKCchr2

89157198

-
In-frameENST00000402030ENST00000390237IRF5chr7

128587801

+IGKCchr2

89157198

-
In-frameENST00000473745ENST00000390237IRF5chr7

128587801

+IGKCchr2

89157198

-
In-frameENST00000477535ENST00000390237IRF5chr7

128587801

+IGKCchr2

89157198

-

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)
ENST00000477535IRF5chr7128587801+ENST00000390237IGKCchr289157198-149997610720236
ENST00000357234IRF5chr7128587801+ENST00000390237IGKCchr289157198-18051282101026338
ENST00000402030IRF5chr7128587801+ENST00000390237IGKCchr289157198-1708118572929285
ENST00000249375IRF5chr7128587801+ENST00000390237IGKCchr289157198-1676115340897285
ENST00000473745IRF5chr7128587801+ENST00000390237IGKCchr289157198-185113282151072285

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
ENST00000477535ENST00000390237IRF5chr7128587801+IGKCchr289157198-0.174470140.8255299
ENST00000357234ENST00000390237IRF5chr7128587801+IGKCchr289157198-0.113716430.8862835
ENST00000402030ENST00000390237IRF5chr7128587801+IGKCchr289157198-0.116881210.8831188
ENST00000249375ENST00000390237IRF5chr7128587801+IGKCchr289157198-0.132764880.86723506
ENST00000473745ENST00000390237IRF5chr7128587801+IGKCchr289157198-0.12631160.8736884

Top

Fusion Genomic Features for IRF5-IGKC


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

Top

Fusion Protein Features for IRF5-IGKC


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/chr7:128587801/chr2:89157198)
- 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
IRF5

Q13568

IGKC

P01834

FUNCTION: Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:11303025, PubMed:15695821, PubMed:22412986, PubMed:25326418, PubMed:32433612). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (By similarity). Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction downstream of the TLR-activated, MyD88-dependent pathway (By similarity). Key transcription factor regulating the IFN response during SARS-CoV-2 infection (PubMed:33440148). {ECO:0000250|UniProtKB:P56477, ECO:0000269|PubMed:11303025, ECO:0000269|PubMed:15695821, ECO:0000269|PubMed:22412986, ECO:0000269|PubMed:25326418, ECO:0000269|PubMed:32433612, ECO:0000269|PubMed:33440148}.FUNCTION: Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.

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
HgeneIRF5chr7:128587801chr2:89157198ENST00000249375+19142_1490499.0Compositional biasNote=Poly-Glu
HgeneIRF5chr7:128587801chr2:89157198ENST00000357234+19142_1490515.0Compositional biasNote=Poly-Glu
HgeneIRF5chr7:128587801chr2:89157198ENST00000402030+19142_1490499.0Compositional biasNote=Poly-Glu
HgeneIRF5chr7:128587801chr2:89157198ENST00000473745+19142_1490499.0Compositional biasNote=Poly-Glu
HgeneIRF5chr7:128587801chr2:89157198ENST00000477535+18142_1490413.0Compositional biasNote=Poly-Glu
HgeneIRF5chr7:128587801chr2:89157198ENST00000249375+1914_1220499.0DNA bindingIRF tryptophan pentad repeat
HgeneIRF5chr7:128587801chr2:89157198ENST00000357234+1914_1220515.0DNA bindingIRF tryptophan pentad repeat
HgeneIRF5chr7:128587801chr2:89157198ENST00000402030+1914_1220499.0DNA bindingIRF tryptophan pentad repeat
HgeneIRF5chr7:128587801chr2:89157198ENST00000473745+1914_1220499.0DNA bindingIRF tryptophan pentad repeat
HgeneIRF5chr7:128587801chr2:89157198ENST00000477535+1814_1220413.0DNA bindingIRF tryptophan pentad repeat
HgeneIRF5chr7:128587801chr2:89157198ENST00000249375+1912_180499.0MotifNuclear localization signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000249375+19150_1600499.0MotifNuclear export signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000357234+1912_180515.0MotifNuclear localization signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000357234+19150_1600515.0MotifNuclear export signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000402030+1912_180499.0MotifNuclear localization signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000402030+19150_1600499.0MotifNuclear export signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000473745+1912_180499.0MotifNuclear localization signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000473745+19150_1600499.0MotifNuclear export signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000477535+1812_180413.0MotifNuclear localization signal
HgeneIRF5chr7:128587801chr2:89157198ENST00000477535+18150_1600413.0MotifNuclear export signal
TgeneIGKCchr7:128587801chr2:89157198ENST00000390237-116_103174107.66666666666667DomainIg-like


Top

Fusion Gene Sequence for IRF5-IGKC


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.

Top

Fusion Gene PPI Analysis for IRF5-IGKC


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


Top

Related Drugs for IRF5-IGKC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for IRF5-IGKC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRF5C0024141Lupus Erythematosus, Systemic6CTD_human;ORPHANET
HgeneIRF5C0003873Rheumatoid Arthritis2CTD_human
HgeneIRF5C0242380Libman-Sacks Disease2CTD_human
HgeneIRF5C0009324Ulcerative Colitis1CTD_human;GENOMICS_ENGLAND
HgeneIRF5C0036421Systemic Scleroderma1CTD_human
HgeneIRF5C0206138CREST Syndrome1ORPHANET
HgeneIRF5C0748540Scleroderma, Limited1ORPHANET
HgeneIRF5C1258104Diffuse Scleroderma1ORPHANET
TgeneC3279824Kappa-Chain Deficiency2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0013374Dysgammaglobulinemia1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0027121Myositis1CTD_human
TgeneC0158353Infectious Myositis1CTD_human
TgeneC0231221Asymptomatic1GENOMICS_ENGLAND
TgeneC0544796Myositis, Proliferative1CTD_human
TgeneC0751356Idiopathic Inflammatory Myopathies1CTD_human
TgeneC0751357Myositis, Focal1CTD_human