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Fusion gene ID: 38109 |
FusionGeneSummary for TIMM50_IFNL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TIMM50_IFNL1 | Fusion gene ID: 38109 | Hgene | Tgene | Gene symbol | TIMM50 | IFNL1 | Gene ID | 92609 | 282618 |
| Gene name | translocase of inner mitochondrial membrane 50 | interferon lambda 1 | |
| Synonyms | MGCA9|TIM50|TIM50L | IL-29|IL29 | |
| Cytomap | 19q13.2 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial import inner membrane translocase subunit TIM50Tim50-like proteinhomolog of yeast Tim50 | interferon lambda-1IFN-lambda-1cytokine Zcyto21interleukin 29 (interferon, lambda 1)interleukin-29 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q3ZCQ8 | Q8IU54 | |
| Ensembl transtripts involved in fusion gene | ENST00000314349, ENST00000607714, ENST00000599794, ENST00000544017, ENST00000600878, | ENST00000333625, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 1 X 3=12 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TIMM50 [Title/Abstract] AND IFNL1 [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 | TIMM50 | GO:0001836 | release of cytochrome c from mitochondria | 15044455 |
| Hgene | TIMM50 | GO:0006470 | protein dephosphorylation | 15044455 |
| Tgene | IFNL1 | GO:0002829 | negative regulation of type 2 immune response | 19346497 |
| Tgene | IFNL1 | GO:0008285 | negative regulation of cell proliferation | 15166220|15899585 |
| Tgene | IFNL1 | GO:0032696 | negative regulation of interleukin-13 production | 19346497 |
| Tgene | IFNL1 | GO:0032714 | negative regulation of interleukin-5 production | 19346497 |
| Tgene | IFNL1 | GO:0032729 | positive regulation of interferon-gamma production | 19346497 |
| Tgene | IFNL1 | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 15166220 |
| Tgene | IFNL1 | GO:0043381 | negative regulation of memory T cell differentiation | 19346497 |
| Tgene | IFNL1 | GO:0045345 | positive regulation of MHC class I biosynthetic process | 12483210 |
| Tgene | IFNL1 | GO:0045581 | negative regulation of T cell differentiation | 19346497 |
| Tgene | IFNL1 | GO:0045892 | negative regulation of transcription, DNA-templated | 19346497 |
| Tgene | IFNL1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12483210 |
| Tgene | IFNL1 | GO:0046427 | positive regulation of JAK-STAT cascade | 12483210 |
| Tgene | IFNL1 | GO:0051607 | defense response to virus | 12469119 |
| 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 | LD | BRCA | TCGA-B6-A0I1-01A | TIMM50 | chr19 | 39973796 | + | IFNL1 | chr19 | 39787445 | + |
| * 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 |
| Frame-shift | ENST00000314349 | ENST00000333625 | TIMM50 | chr19 | 39973796 | + | IFNL1 | chr19 | 39787445 | + |
| Frame-shift | ENST00000607714 | ENST00000333625 | TIMM50 | chr19 | 39973796 | + | IFNL1 | chr19 | 39787445 | + |
| intron-3CDS | ENST00000599794 | ENST00000333625 | TIMM50 | chr19 | 39973796 | + | IFNL1 | chr19 | 39787445 | + |
| In-frame | ENST00000544017 | ENST00000333625 | TIMM50 | chr19 | 39973796 | + | IFNL1 | chr19 | 39787445 | + |
| intron-3CDS | ENST00000600878 | ENST00000333625 | TIMM50 | chr19 | 39973796 | + | IFNL1 | chr19 | 39787445 | + |
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FusionProtFeatures for TIMM50_IFNL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TIMM50 | IFNL1 |
| Essential component of the TIM23 complex, a complex thatmediates the translocation of transit peptide-containing proteinsacross the mitochondrial inner membrane. Has some phosphataseactivity in vitro; however such activity may not be relevant invivo. {ECO:0000269|PubMed:15044455}. Isoform 2: May participate in the release of snRNPs andSMN from the Cajal body. {ECO:0000269|PubMed:16008839}. | Cytokine with antiviral, antitumour and immunomodulatoryactivities. Plays a critical role in the antiviral host defense,predominantly in the epithelial tissues. Acts as a ligand for theheterodimeric class II cytokine receptor composed of IL10RB andIFNLR1, and receptor engagement leads to the activation of theJAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has arestricted receptor distribution and therefore restricted targets:is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specificexpression of its receptor IFNLR1. Exerts an immunomodulatoryeffect by up-regulating MHC class I antigen expression. |
| 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 TIMM50_IFNL1 |
| 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. |
| >In-frame_TIMM50_ENST00000544017_chr19_39973796_+_IFNL1_ENST00000333625_chr19_39787445_+_155aa MVPRFLMSSTMEESLKLKNWSCSSPVFPGNWDLRLLQVRERPVALEAELALTLKVLEAAAGPALEDVLDQPLHTLHHILSQLQACIQPQP |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TIMM50_ENST00000544017_chr19_39973796_+_IFNL1_ENST00000333625_chr19_39787445_+_465nt ATGGTGCCAAGATTCCTGATGAGTTCGACAATGGAAGAGTCACTCAAGCTGAAAAACTGGAGTTGCAGCTCTCCTGTCTTCCCCGGGAAT TGGGACCTGAGGCTTCTCCAGGTGAGGGAGCGCCCTGTGGCCTTGGAGGCTGAGCTGGCCCTGACGCTGAAGGTCCTGGAGGCCGCTGCT GGCCCAGCCCTGGAGGACGTCCTAGACCAGCCCCTTCACACCCTGCACCACATCCTCTCCCAGCTCCAGGCCTGTATCCAGCCTCAGCCC ACAGCAGGGCCCAGGCCCCGGGGCCGCCTCCACCACTGGCTGCACCGGCTCCAGGAGGCCCCCAAAAAGGAGTCCGCTGGCTGCCTGGAG GCATCTGTCACCTTCAACCTCTTCCGCCTCCTCACGCGAGACCTCAAATATGTGGCCGATGGGAACCTGTGTCTGAGAACGTCAACCCAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TIMM50_ENST00000544017_chr19_39973796_+_IFNL1_ENST00000333625_chr19_39787445_+_878nt TCGCGCTTGCGAAGCGGGCTCCGGCTCGGCTCGCGGGGACTGTGCACGAGGTTGGCGACGCCGCCCCGCCGGGCCCCAGATCAGGCCGCA GAGATCGGGAGCCGCGGGAGCACTAAGGCGCAAGGGCCACAGCAGCAGCCGGGCTCAGAGGGTCCCAGCTATGCCAAAAAAGTTGCGCTC TGGCTTGCTGGGCTGCTTGGAGCTGGTGGGACTGTGAGCGTCGTCTATATCTTTGGAAACAACCCGGTGGACGAAAATGGTGCCAAGATT CCTGATGAGTTCGACAATGGAAGAGTCACTCAAGCTGAAAAACTGGAGTTGCAGCTCTCCTGTCTTCCCCGGGAATTGGGACCTGAGGCT TCTCCAGGTGAGGGAGCGCCCTGTGGCCTTGGAGGCTGAGCTGGCCCTGACGCTGAAGGTCCTGGAGGCCGCTGCTGGCCCAGCCCTGGA GGACGTCCTAGACCAGCCCCTTCACACCCTGCACCACATCCTCTCCCAGCTCCAGGCCTGTATCCAGCCTCAGCCCACAGCAGGGCCCAG GCCCCGGGGCCGCCTCCACCACTGGCTGCACCGGCTCCAGGAGGCCCCCAAAAAGGAGTCCGCTGGCTGCCTGGAGGCATCTGTCACCTT CAACCTCTTCCGCCTCCTCACGCGAGACCTCAAATATGTGGCCGATGGGAACCTGTGTCTGAGAACGTCAACCCACCCTGAGTCCACCTG ACACCCCACACCTTATTTATGCGCTGAGCCCTACTCCTTCCTTAATTTATTTCCTCTCACCCTTTATTTATGAAGCTGCAGCCCTGACTG |
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FusionGenePPI for TIMM50_IFNL1 |
| 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 |
| TIMM50 | AKTIP, PELO, MAGED1, PHB2, TNFRSF10B, PAFAH1B2, UBC, RYK, TUBA3E, AMFR, TCF3, CUL3, CUL1, SHC1, TOMM70A, SDHA, SRSF5, SLC25A6, KDM1A, SYNCRIP, TIMM13, SFXN1, TOMM40, SDHB, TOMM7, CD55, SFXN3, ACAD9, VAMP2, CBX5, SMURF1, NOS2, PAN2, HDAC6, ADRB2, EGFR, FBXO6, ILK, DNAJA4, TP53, FUS, ERLIN2, CUL7, OBSL1, CCDC8, SUZ12, RNF2, BMI1, ARAF, IRAK1, RAF1, TIMM17B, RPS6KB2, TUBG1, TUBA1C, MCM2, ESRRB, NDUFA4, C15orf48, COQ9, PTPMT1, CISD3, CHCHD10, CHCHD2, C17orf89, TRUB2, NME4, OCIAD1, ADCK4, NFATC2, DPF3, ZNF746, CTDSP2, MTMR11, ZNF852, WASF1, ABI2, ZNF629, ZNF724P, ZSCAN20, WASF3, BRK1, MUC5B, WASF2, ABI1, GNE, DPP9, NCKAP1, BPIFB1, ZNF100, CYFIP1, ZNF624, IGJ, ZKSCAN8, CYFIP2, TRIM25 | IFNL1 | IFNL2, ATP2B2 |
| - 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 TIMM50_IFNL1 |
| 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 TIMM50_IFNL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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