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Fusion gene ID: 22583 |
FusionGeneSummary for MRPS6_MYO3A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MRPS6_MYO3A | Fusion gene ID: 22583 | Hgene | Tgene | Gene symbol | MRPS6 | MYO3A | Gene ID | 64968 | 53904 |
| Gene name | mitochondrial ribosomal protein S6 | myosin IIIA | |
| Synonyms | C21orf101|MRP-S6|RPMS6|S6mt | DFNB30 | |
| Cytomap | 21q22.11 | 10p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 28S ribosomal protein S6, mitochondrialmitochondrial small ribosomal subunit protein bS6m | myosin-IIIa | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P82932 | Q8NEV4 | |
| Ensembl transtripts involved in fusion gene | ENST00000399312, ENST00000482679, | ENST00000265944, ENST00000543632, ENST00000376302, ENST00000376301, ENST00000478093, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 1 X 1=2 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/2*10)=2.32192809488736 | |
| Context | PubMed: MRPS6 [Title/Abstract] AND MYO3A [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 |
| Tgene | MYO3A | GO:0046777 | protein autophosphorylation | 12672820 |
| 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 | HNSC | TCGA-CV-6948-01A | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| * 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 |
| In-frame | ENST00000399312 | ENST00000265944 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| 5CDS-intron | ENST00000399312 | ENST00000543632 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| 5CDS-intron | ENST00000399312 | ENST00000376302 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| 5CDS-intron | ENST00000399312 | ENST00000376301 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| 5CDS-intron | ENST00000399312 | ENST00000478093 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| intron-3CDS | ENST00000482679 | ENST00000265944 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| intron-intron | ENST00000482679 | ENST00000543632 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| intron-intron | ENST00000482679 | ENST00000376302 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| intron-intron | ENST00000482679 | ENST00000376301 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
| intron-intron | ENST00000482679 | ENST00000478093 | MRPS6 | chr21 | 35446045 | + | MYO3A | chr10 | 26490194 | + |
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FusionProtFeatures for MRPS6_MYO3A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MRPS6 | MYO3A |
| Probable actin-based motor with a protein kinaseactivity. Probably plays a role in vision and hearing(PubMed:12032315). Required for normal cochlear hair bundledevelopment and hearing. Plays an important role in the earlysteps of cochlear hair bundle morphogenesis. Influences the numberand lengths of stereocilia to be produced and limits the growth ofmicrovilli within the forming auditory hair bundles therebycontributing to the architecture of the hair bundle, including itsstaircase pattern. Involved in the elongation of actin instereocilia tips by transporting the actin regulatory factor ESPNto the plus ends of actin filaments (By similarity).{ECO:0000250|UniProtKB:Q8K3H5, ECO:0000269|PubMed:12032315}. |
| 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 |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 1055_1084 | 1515 | 1617 | Domain | IQ 1 |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 1082_1111 | 1515 | 1617 | Domain | IQ 2 |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 1346_1375 | 1515 | 1617 | Domain | IQ 3 |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 21_287 | 1515 | 1617 | Domain | Protein kinase |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 338_1053 | 1515 | 1617 | Domain | Myosin motor |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 27_35 | 1515 | 1617 | Nucleotide binding | ATP |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 934_956 | 1515 | 1617 | Region | Actin-binding |
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FusionGeneSequence for MRPS6_MYO3A |
| 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_MRPS6_ENST00000399312_chr21_35446045_+_MYO3A_ENST00000265944_chr10_26490194_+_117aa MPRYELALILKAMQRKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRERRPQQELQNQCIKANERCWAAESPEKEEER |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MRPS6_ENST00000399312_chr21_35446045_+_MYO3A_ENST00000265944_chr10_26490194_+_351nt ATGCCCCGCTACGAGCTGGCTTTAATCCTGAAAGCCATGCAGCGGAAGTCAATCCAAGAAGAAAAACGAAGACCAAGGAAAGACAGTCAG GGAAAATTATTAGATTTGGAAGATTTCTATTATAAGGAATTTTTGCCCAGTCGTTCTGGACCAAAGGAACATAGCCCTAGTTTAAGAGAA CGAAGACCACAGCAAGAACTCCAGAATCAATGTATTAAGGCTAATGAAAGGTGCTGGGCGGCGGAGAGCCCCGAGAAGGAGGAGGAGAGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MRPS6_ENST00000399312_chr21_35446045_+_MYO3A_ENST00000265944_chr10_26490194_+_1093nt CGGCGTCTGCGCAGCTGCCAGCGCCTTTAAGCCCGGGCTCGCGCTCTCGGACCGTGCTTTCGCCGCCTGGGAGCCGTCCGGCGCAGCAGT TTCTAGGTCCCCACTGTCCCCGCCGTCCCGCCCCTTCGCGTCCCGGGAACCGGCTGGCTTCCGAGCCGCACTCGCCGATCCTCCAGGCAT GCCCCGCTACGAGCTGGCTTTAATCCTGAAAGCCATGCAGCGGAAGTCAATCCAAGAAGAAAAACGAAGACCAAGGAAAGACAGTCAGGG AAAATTATTAGATTTGGAAGATTTCTATTATAAGGAATTTTTGCCCAGTCGTTCTGGACCAAAGGAACATAGCCCTAGTTTAAGAGAACG AAGACCACAGCAAGAACTCCAGAATCAATGTATTAAGGCTAATGAAAGGTGCTGGGCGGCGGAGAGCCCCGAGAAGGAGGAGGAGAGAGA GCCAGCAGCCAACCCCTACGACTTCAGGAGGCTCCTGCGCAAAACCTCCCAGCGCCGGCGCCTCGTCCAGCAGTCCTAACCGTTCAACGA GGCAGTCACCGCCGTCGGAAGGCGCTGGAGCCTGCGGGGCAGCAGGGGCCAAGCAGGCACTCTGGGGCTGGCACCAGCAGGCACTGAAGC TGCGGCCCTGATCTCCGCAGAGGCTGCCTGCTGCGCTCGGCCCTCAAGTGCCCGGGCCGGCCTTCGTGCTCCGAAACAAGAGACCTGGGA GCCCTCGGGAAACCTCCCCCGACGCTCTCTCTCGGAACTCCCGCACCCTCCTTTCTCACCAGCCCGCCAGTTGTGGCAACCCTGTCCTTG TTCCCCTAATCTATCACTTTGTTCTTTTTTTTTGTGACTCCTGTGGACTCCACTGCGCCTGGGATCTCGCCAACCCCTCTCTCATTTGGG GTGACTGAATTCACAGATTTTTTTTTTTATTGGAAACGGCTTTTCTTGGCCAACAGAACACTTGCTAGCGGTTGAATCTTAGAGAAAAAA GCCCGGGAGGGGTGGGGAGAATTTCGAAGATGTATTTCATCTCAAGCTTGCTCTTTCTCTTCCTTTGGTTATTAAGGTCACTAAATAAAG |
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FusionGenePPI for MRPS6_MYO3A |
| 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 |
| MRPS6 | KIAA1377, LRIF1, SRRM2, ICT1, APP, RNF181, SREBF2, STAT5A, SRPK2, MKRN3, TRA2A, MRPS31, MRPS18C, MRPS18B, MRPL50, NANOG, CDC14B, MRPS34, MRPS15, RBM3, TRIM25 | MYO3A | POLR2M, USP7, MCM2 |
| - 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 |
| Tgene | MYO3A | chr21:35446045 | chr10:26490194 | ENST00000265944 | + | 31 | 35 | 1401_1479 | 1515 | 1617 | MORN4 |
| - 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 MRPS6_MYO3A |
| 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 MRPS6_MYO3A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MRPS6 | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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