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Fusion gene ID: 17359 |
FusionGeneSummary for IL18R1_MCOLN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IL18R1_MCOLN2 | Fusion gene ID: 17359 | Hgene | Tgene | Gene symbol | IL18R1 | MCOLN2 | Gene ID | 8809 | 255231 |
| Gene name | interleukin 18 receptor 1 | mucolipin 2 | |
| Synonyms | CD218a|CDw218a|IL-1Rrp|IL18RA|IL1RRP | TRP-ML2|TRPML2 | |
| Cytomap | 2q12.1 | 1p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interleukin-18 receptor 1CD218 antigen-like family member AIL-18R-1IL-18R1IL1 receptor-related proteinIL18Ralpha2IL1R-rpcytokine receptor | mucolipin-2transient receptor potential channel mucolipin 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q13478 | Q8IZK6 | |
| Ensembl transtripts involved in fusion gene | ENST00000409599, ENST00000233957, ENST00000334376, | ENST00000370608, ENST00000284027, ENST00000531325, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: IL18R1 [Title/Abstract] AND MCOLN2 [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 |
| TCGA | RV | HNSC | TCGA-CV-7406-01A | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| * 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 |
| 5UTR-3CDS | ENST00000409599 | ENST00000370608 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| 5UTR-3CDS | ENST00000409599 | ENST00000284027 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| 5UTR-5UTR | ENST00000409599 | ENST00000531325 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| intron-3CDS | ENST00000233957 | ENST00000370608 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| intron-3CDS | ENST00000233957 | ENST00000284027 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| intron-5UTR | ENST00000233957 | ENST00000531325 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| intron-3CDS | ENST00000334376 | ENST00000370608 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| intron-3CDS | ENST00000334376 | ENST00000284027 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
| intron-5UTR | ENST00000334376 | ENST00000531325 | IL18R1 | chr2 | 102972860 | + | MCOLN2 | chr1 | 85406674 | - |
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FusionProtFeatures for IL18R1_MCOLN2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IL18R1 | MCOLN2 |
| Within the IL18 receptor complex, responsible for thebinding of the proinflammatory cytokine IL18, but not IL1A norIL1B (PubMed:8626725, PubMed:14528293, PubMed:25261253,PubMed:25500532). Involved in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Contributes to IL18-induced cytokine production, either independently of SLC12A3, oras a complex with SLC12A3 (By similarity).{ECO:0000250|UniProtKB:Q61098, ECO:0000269|PubMed:10653850,ECO:0000269|PubMed:14528293, ECO:0000269|PubMed:25261253,ECO:0000269|PubMed:25500532, ECO:0000269|PubMed:8626725}. | Nonselective cation channel probably playing a role inthe regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity(PubMed:19940139, PubMed:19885840). May activate ARF6 and beinvolved in the trafficking of GPI-anchored cargo proteins to thecell surface via the ARF6-regulated recycling pathway(PubMed:17662026). May play a role in immune processes. Inadaptive immunity, TRPML2 and TRPML1 may play redundant roles inthe function of the specialized lysosomes of B cells (Bysimilarity). In the innate immune response, may play a role in theregulation of chemokine secretion and macrophage migration (Bysimilarity). Through a possible and probably tissue-specificheteromerization with MCOLN1 may be at least in part involved inmany lysosome-dependent cellular events (PubMed:19885840).{ECO:0000250|UniProtKB:Q8K595, ECO:0000269|PubMed:17662026,ECO:0000269|PubMed:19885840, ECO:0000269|PubMed:19940139,ECO:0000305}. |
| 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 IL18R1_MCOLN2 |
| 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 IL18R1_MCOLN2 |
| 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 |
| IL18R1 | IL1RAP, IL37 | MCOLN2 | MCOLN3 |
| - 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 IL18R1_MCOLN2 |
| 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 IL18R1_MCOLN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IL18R1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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