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Fusion gene ID: 15147 |
FusionGeneSummary for GPATCH8_IRAK4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GPATCH8_IRAK4 | Fusion gene ID: 15147 | Hgene | Tgene | Gene symbol | GPATCH8 | IRAK4 | Gene ID | 23131 | 51135 |
Gene name | G-patch domain containing 8 | interleukin 1 receptor associated kinase 4 | |
Synonyms | GPATC8|KIAA0553 | IPD1|IRAK-4|NY-REN-64|REN64 | |
Cytomap | 17q21.31 | 12q12 | |
Type of gene | protein-coding | protein-coding | |
Description | G patch domain-containing protein 8 | interleukin-1 receptor-associated kinase 4renal carcinoma antigen NY-REN-64 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9UKJ3 | Q9NWZ3 | |
Ensembl transtripts involved in fusion gene | ENST00000434000, ENST00000591680, ENST00000586265, ENST00000592154, ENST00000588554, | ENST00000440781, ENST00000431837, ENST00000448290, ENST00000551736, | |
Fusion gene scores | * DoF score | 15 X 9 X 8=1080 | 4 X 3 X 4=48 |
# samples | 17 | 4 | |
** MAII score | log2(17/1080*10)=-2.66742466091313 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GPATCH8 [Title/Abstract] AND IRAK4 [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 |
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 | CA432346 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
* 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 | ENST00000434000 | ENST00000440781 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000434000 | ENST00000431837 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000434000 | ENST00000448290 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000434000 | ENST00000551736 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000591680 | ENST00000440781 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000591680 | ENST00000431837 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000591680 | ENST00000448290 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000591680 | ENST00000551736 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000586265 | ENST00000440781 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000586265 | ENST00000431837 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000586265 | ENST00000448290 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000586265 | ENST00000551736 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000592154 | ENST00000440781 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000592154 | ENST00000431837 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000592154 | ENST00000448290 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000592154 | ENST00000551736 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000588554 | ENST00000440781 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000588554 | ENST00000431837 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-3UTR | ENST00000588554 | ENST00000448290 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
intron-intron | ENST00000588554 | ENST00000551736 | GPATCH8 | chr17 | 42540551 | - | IRAK4 | chr12 | 44181548 | - |
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FusionProtFeatures for GPATCH8_IRAK4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GPATCH8 | IRAK4 |
Serine/threonine-protein kinase that plays a criticalrole in initiating innate immune response against foreignpathogens. Involved in Toll-like receptor (TLR) and IL-1Rsignaling pathways (PubMed:17878374). Is rapidly recruited byMYD88 to the receptor-signaling complex upon TLR activation toform the Myddosome together with IRAK2. Phosphorylates initiallyIRAK1, thus stimulating the kinase activity and intensiveautophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligasesPellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-bindingdomain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringingtogether the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA andIKBKB/IKKB) leading to NF-kappa-B nuclear translocation andactivation. Alternatively, phosphorylates TIRAP to promote itsubiquitination and subsequent degradation. Phosphorylates NCF1 andregulates NADPH oxidase activation after LPS stimulationsuggesting a similar mechanism during microbial infections.{ECO:0000269|PubMed:11960013, ECO:0000269|PubMed:12538665,ECO:0000269|PubMed:15084582, ECO:0000269|PubMed:17217339,ECO:0000269|PubMed:17337443, ECO:0000269|PubMed:17878374,ECO:0000269|PubMed:17997719, ECO:0000269|PubMed:20400509,ECO:0000269|PubMed:24316379}. |
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 |
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FusionGeneSequence for GPATCH8_IRAK4 |
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 GPATCH8_IRAK4 |
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 |
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RelatedDrugs for GPATCH8_IRAK4 |
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 |
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RelatedDiseases for GPATCH8_IRAK4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | IRAK4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | IRAK4 | C0752308 | Hypoxia-Ischemia, Brain | 1 | CTD_human |
Tgene | IRAK4 | C1843256 | IRAK4 Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |