|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 17734 |
FusionGeneSummary for IRF6_JUP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IRF6_JUP | Fusion gene ID: 17734 | Hgene | Tgene | Gene symbol | IRF6 | JUP | Gene ID | 3664 | 3728 |
| Gene name | interferon regulatory factor 6 | junction plakoglobin | |
| Synonyms | LPS|OFC6|PIT|PPS|PPS1|VWS|VWS1 | CTNNG|DP3|DPIII|PDGB|PKGB | |
| Cytomap | 1q32.2 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interferon regulatory factor 6 | junction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O14896 | P14923 | |
| Ensembl transtripts involved in fusion gene | ENST00000367021, ENST00000542854, | ENST00000540235, ENST00000393930, ENST00000393931, ENST00000310706, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 21 X 22 X 8=3696 |
| # samples | 5 | 29 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(29/3696*10)=-3.67183995140112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IRF6 [Title/Abstract] AND JUP [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | IRF6 | GO:0007050 | cell cycle arrest | 18212048 |
| Hgene | IRF6 | GO:0008285 | negative regulation of cell proliferation | 18212048 |
| Hgene | IRF6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21807998 |
| Tgene | JUP | GO:0002159 | desmosome assembly | 22889254 |
| Tgene | JUP | GO:0042127 | regulation of cell proliferation | 17924338 |
| Tgene | JUP | GO:0042307 | positive regulation of protein import into nucleus | 10825188|14661054 |
| Tgene | JUP | GO:0050982 | detection of mechanical stimulus | 18937352 |
| Tgene | JUP | GO:0051091 | positive regulation of DNA binding transcription factor activity | 14661054 |
| Tgene | JUP | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Tgene | JUP | GO:0098609 | cell-cell adhesion | 18937352 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BQ352330 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000367021 | ENST00000540235 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000367021 | ENST00000393930 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000367021 | ENST00000393931 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000367021 | ENST00000310706 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000542854 | ENST00000540235 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000542854 | ENST00000393930 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000542854 | ENST00000393931 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
| intron-intron | ENST00000542854 | ENST00000310706 | IRF6 | chr1 | 209963892 | + | JUP | chr17 | 39740552 | + |
Top |
FusionProtFeatures for IRF6_JUP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IRF6 | JUP |
| Probable DNA-binding transcriptional activator. Keydeterminant of the keratinocyte proliferation-differentiationswitch involved in appropriate epidermal development (Bysimilarity). Plays a role in regulating mammary epithelial cellproliferation (By similarity). May regulate WDR65 transcription(By similarity). {ECO:0000250}. | Common junctional plaque protein. The membrane-associated plaques are architectural elements in an importantstrategic position to influence the arrangement and function ofboth the cytoskeleton and the cells within the tissue. Thepresence of plakoglobin in both the desmosomes and in theintermediate junctions suggests that it plays a central role inthe structure and function of submembranous plaques. Acts as asubstrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-cateninin E-cadherin/catenin adhesion complexes which are proposed tocouple cadherins to the actin cytoskeleton (By similarity).{ECO:0000250}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for IRF6_JUP |
| 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). |
Top |
FusionGenePPI for IRF6_JUP |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for IRF6_JUP |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | JUP | P14923 | DB01593 | Zinc | Junction plakoglobin | small molecule | approved|investigational |
Top |
RelatedDiseases for IRF6_JUP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IRF6 | C0175697 | Van der Woude syndrome | 12 | CTD_human;ORPHANET;UNIPROT |
| Hgene | IRF6 | C0008924 | Cleft Lip | 3 | CTD_human;HPO;ORPHANET |
| Hgene | IRF6 | C0265259 | Popliteal pterygium syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | IRF6 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| Hgene | IRF6 | C0037268 | Skin Abnormalities | 1 | CTD_human |
| Hgene | IRF6 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| Hgene | IRF6 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | JUP | C0023895 | Liver diseases | 1 | CTD_human |
| Tgene | JUP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | JUP | C0232347 | No-Reflow Phenomenon | 1 | CTD_human |
| Tgene | JUP | C1969081 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|