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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: 17718

FusionGeneSummary for IRF1_FOPNL

check button Fusion gene summary
Fusion gene informationFusion gene name: IRF1_FOPNL
Fusion gene ID: 17718
HgeneTgene
Gene symbol

IRF1

FOPNL

Gene ID

3659

123811

Gene nameinterferon regulatory factor 1FGFR1OP N-terminal like
SynonymsIRF-1|MARC16orf63|FOR20|PHSECRG2
Cytomap

5q31.1

16p13.11

Type of geneprotein-codingprotein-coding
Descriptioninterferon regulatory factor 1interferon regulatory factor 1 isoform +I9interferon regulatory factor 1 isoform d78interferon regulatory factor 1 isoform d9,10+interferon regulatory factor 1 isoform delta4interferon regulatory factor 1 isoform delta7lisH domain-containing protein FOPNLFOP-related protein of 20 kDalisH domain-containing protein C16orf63pluripotent embryonic stem cell-related protein
Modification date2018052720180519
UniProtAcc

P10914

Q96NB1

Ensembl transtripts involved in fusion geneENST00000245414, ENST00000405885, 
ENST00000463784, 
ENST00000255759, 
ENST00000573968, ENST00000573396, 
ENST00000575744, ENST00000575073, 
ENST00000573429, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: IRF1 [Title/Abstract] AND FOPNL [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneIRF1

GO:0006915

apoptotic process

19851330

HgeneIRF1

GO:0007050

cell cycle arrest

22200613

HgeneIRF1

GO:0035458

cellular response to interferon-beta

18035482

HgeneIRF1

GO:0045893

positive regulation of transcription, DNA-templated

22200613

HgeneIRF1

GO:0051607

defense response to virus

21389130|21478870


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
TCGALDSTADTCGA-BR-6709-01AIRF1chr5

131822249

-FOPNLchr16

15973745

-
* 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
Frame-shitENST00000245414ENST00000255759IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000245414ENST00000573968IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000245414ENST00000573396IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000245414ENST00000575744IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000245414ENST00000575073IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000245414ENST00000573429IRF1chr5

131822249

-FOPNLchr16

15973745

-
Frame-shitENST00000405885ENST00000255759IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000405885ENST00000573968IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000405885ENST00000573396IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000405885ENST00000575744IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000405885ENST00000575073IRF1chr5

131822249

-FOPNLchr16

15973745

-
5CDS-intronENST00000405885ENST00000573429IRF1chr5

131822249

-FOPNLchr16

15973745

-
intron-3CDSENST00000463784ENST00000255759IRF1chr5

131822249

-FOPNLchr16

15973745

-
intron-intronENST00000463784ENST00000573968IRF1chr5

131822249

-FOPNLchr16

15973745

-
intron-intronENST00000463784ENST00000573396IRF1chr5

131822249

-FOPNLchr16

15973745

-
intron-intronENST00000463784ENST00000575744IRF1chr5

131822249

-FOPNLchr16

15973745

-
intron-intronENST00000463784ENST00000575073IRF1chr5

131822249

-FOPNLchr16

15973745

-
intron-intronENST00000463784ENST00000573429IRF1chr5

131822249

-FOPNLchr16

15973745

-

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FusionProtFeatures for IRF1_FOPNL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IRF1

P10914

FOPNL

Q96NB1

Transcriptional regulator which displays a remarkablefunctional diversity in the regulation of cellular responses.These include the regulation of IFN and IFN-inducible genes, hostresponse to viral and bacterial infections, regulation of manygenes expressed during hematopoiesis, inflammation, immuneresponses and cell proliferation and differentiation, regulationof the cell cycle and induction of growth arrest and programmedcell death following DNA damage. Stimulates both innate andacquired immune responses through the activation of specifictarget genes and can act as a transcriptional activator andrepressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Its targetgenes for transcriptional activation activity include: genesinvolved in anti-viral response, such as IFN-alpha/beta,DDX58/RIG-I, TNFSF10/TRAIL, OAS1/2, PIAS1/GBP, EIF2AK2/PKR andRSAD2/viperin; antibacterial response, such as NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A;apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immuneresponse, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNAdamage responses and DNA repair, such as POLQ/POLH; MHC class Iexpression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B andB2M and MHC class II expression, such as CIITA. Represses genesinvolved in anti-proliferative response, such as BIRC5/survivin,CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such asFOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependenttranscription through enhanced recruitment of EP300 leading toincreased acetylation of p53/TP53. Plays an important role inimmune response directly affecting NK maturation and activity,macrophage production of IL12, Th1 development and maturation ofCD8+ T-cells. Also implicated in the differentiation andmaturation of dendritic cells and in the suppression of regulatoryT (Treg) cells development. Acts as a tumor suppressor and plays arole not only in antagonism of tumor cell growth but also instimulating an immune response against tumor cells.{ECO:0000269|PubMed:15226432, ECO:0000269|PubMed:15509808,ECO:0000269|PubMed:17516545, ECO:0000269|PubMed:17942705,ECO:0000269|PubMed:18084608, ECO:0000269|PubMed:18497060,ECO:0000269|PubMed:18641303, ECO:0000269|PubMed:19404407,ECO:0000269|PubMed:19851330, ECO:0000269|PubMed:21389130,ECO:0000269|PubMed:22200613, ECO:0000269|PubMed:22367195}. Involved in the biogenesis of cilia (PubMed:20551181).Required for the recruitement of PLK1 to centrosomes and S phaseprogression (PubMed:24018379). {ECO:0000269|PubMed:20551181,ECO:0000269|PubMed:24018379}.

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 IRF1_FOPNL


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 IRF1_FOPNL


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
IRF1KAT2B, KAT2A, STAT1, IRF8, HMGA1, IRF9, EP300, SMARCA4, CREBBP, STUB1, TRAF3, HCFC1, KEAP1, SEC63, TRMT2A, NPM1, YBX1, TRIM28, SP2, SPI1, MDM2, SET, HSP90AA1, HSPA1A, CBL, HIST1H3A, CDKN1B, QARS, BIRC3, PRDM1, IRF2FOPNLELAVL1, OFD1, PCM1, KIAA0753, CEP162, CEP290, CEP128, CEP135, CEP63, CSNK1E, DYNLL1, FGFR1OP, SLAIN2, CCDC14


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 IRF1_FOPNL


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 IRF1_FOPNL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRF1C0699791Stomach Carcinoma2HPO;UNIPROT
HgeneIRF1C0038454Cerebrovascular accident1CTD_human
HgeneIRF1C0151744Myocardial Ischemia1CTD_human