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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17729

FusionGeneSummary for IRF3_SF3A2

check button Fusion gene summary
Fusion gene informationFusion gene name: IRF3_SF3A2
Fusion gene ID: 17729
HgeneTgene
Gene symbol

IRF3

SF3A2

Gene ID

3661

8175

Gene nameinterferon regulatory factor 3splicing factor 3a subunit 2
SynonymsIIAE7PRP11|PRPF11|SAP62|SF3a66
Cytomap

19q13.33

19p13.3

Type of geneprotein-codingprotein-coding
Descriptioninterferon regulatory factor 3splicing factor 3A subunit 2SAP 62pre-mRNA splicing factor SF3A, subunit 2spliceosome associated protein 62splicing factor 3a, subunit 2, 66kDsplicing factor 3a, subunit 2, 66kDa
Modification date2018052720180523
UniProtAcc

Q14653

Q15428

Ensembl transtripts involved in fusion geneENST00000599680, ENST00000309877, 
ENST00000600911, ENST00000596822, 
ENST00000601291, ENST00000377139, 
ENST00000597198, ENST00000593922, 
ENST00000600022, ENST00000599223, 
ENST00000596765, ENST00000599144, 
ENST00000598808, ENST00000377135, 
ENST00000442265, 
ENST00000221494, 
Fusion gene scores* DoF score4 X 4 X 2=322 X 2 X 1=4
# samples 42
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: IRF3 [Title/Abstract] AND SF3A2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneIRF3

GO:0045944

positive regulation of transcription by RNA polymerase II

9660935


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CR989887IRF3chr19

50168596

-SF3A2chr19

2248149

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000599680ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000309877ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000600911ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000596822ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000601291ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000377139ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000597198ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000593922ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000600022ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000599223ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000596765ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000599144ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000598808ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000377135ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+
intron-3CDSENST00000442265ENST00000221494IRF3chr19

50168596

-SF3A2chr19

2248149

+

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FusionProtFeatures for IRF3_SF3A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IRF3

Q14653

SF3A2

Q15428

Key transcriptional regulator of type I interferon(IFN)-dependent immune responses which plays a critical role inthe innate immune response against DNA and RNA viruses. Regulatesthe transcription of type I IFN genes (IFN-alpha and IFN-beta) andIFN-stimulated genes (ISG) by binding to an interferon-stimulatedresponse element (ISRE) in their promoters. Acts as a more potentactivator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA)gene and plays a critical role in both the early and late phasesof the IFNA/B gene induction. Found in an inactive form in thecytoplasm of uninfected cells and following viral infection,double-stranded RNA (dsRNA), or toll-like receptor (TLR)signaling, is phosphorylated by IKBKE and TBK1 kinases. Thisinduces a conformational change, leading to its dimerization andnuclear localization and association with CREB binding protein(CREBBP) to form dsRNA-activated factor 1 (DRAF1), a complex whichactivates the transcription of the type I IFN and ISG genes. Canactivate distinct gene expression programs in macrophages and caninduce significant apoptosis in primary macrophages. Subunit of the splicing factor SF3A required for 'A'complex assembly formed by the stable binding of U2 snRNP to thebranchpoint sequence (BPS) in pre-mRNA. Sequence independentbinding of SF3A/SF3B complex upstream of the branch site isessential, it may anchor U2 snRNP to the pre-mRNA. May also beinvolved in the assembly of the 'E' complex.

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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FusionGeneSequence for IRF3_SF3A2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IRF3_SF3A2


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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RelatedDrugs for IRF3_SF3A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IRF3_SF3A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRF3C4225294HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 71UNIPROT