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Fusion gene ID: 23151 |
FusionGeneSummary for MYO1E_GTF2A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYO1E_GTF2A2 | Fusion gene ID: 23151 | Hgene | Tgene | Gene symbol | MYO1E | GTF2A2 | Gene ID | 4643 | 2958 |
| Gene name | myosin IE | general transcription factor IIA subunit 2 | |
| Synonyms | FSGS6|HuncM-IC|MYO1C | HsT18745|T18745|TF2A2|TFIIA|TFIIA-12|TFIIA-gamma|TFIIAS | |
| Cytomap | 15q22.2 | 15q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | unconventional myosin-IeMYO1E variant proteinmyosin-ICunconventional myosin 1E | transcription initiation factor IIA subunit 2TFIIA gamma subunitTFIIA p12 subunitgeneral transcription factor IIA 2general transcription factor IIA, 2, 12kDatranscription initiation factor IIA gamma chain | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q12965 | P52657 | |
| Ensembl transtripts involved in fusion gene | ENST00000288235, ENST00000558814, | ENST00000396060, ENST00000267869, ENST00000396064, ENST00000396063, ENST00000396061, ENST00000484743, | |
| Fusion gene scores | * DoF score | 11 X 8 X 8=704 | 2 X 2 X 1=4 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/704*10)=-2.55254102302878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: MYO1E [Title/Abstract] AND GTF2A2 [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 | GTF2A2 | GO:0006366 | transcription by RNA polymerase II | 7724559|7958900|8626665 |
| Tgene | GTF2A2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7958899 |
| Tgene | GTF2A2 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 8626665 |
| Tgene | GTF2A2 | GO:0051123 | RNA polymerase II transcriptional preinitiation complex assembly | 7958899|8626665 |
| 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 | LUAD | TCGA-44-7660-01A | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| * 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 | ENST00000288235 | ENST00000396060 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| 5CDS-5UTR | ENST00000288235 | ENST00000267869 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| 5CDS-intron | ENST00000288235 | ENST00000396064 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| 5CDS-intron | ENST00000288235 | ENST00000396063 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| 5CDS-intron | ENST00000288235 | ENST00000396061 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| 5CDS-intron | ENST00000288235 | ENST00000484743 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| intron-3CDS | ENST00000558814 | ENST00000396060 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| intron-5UTR | ENST00000558814 | ENST00000267869 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| intron-intron | ENST00000558814 | ENST00000396064 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| intron-intron | ENST00000558814 | ENST00000396063 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| intron-intron | ENST00000558814 | ENST00000396061 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
| intron-intron | ENST00000558814 | ENST00000484743 | MYO1E | chr15 | 59664697 | - | GTF2A2 | chr15 | 59934461 | - |
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FusionProtFeatures for MYO1E_GTF2A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYO1E | GTF2A2 |
| Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Their highly divergent tails bind to membranous compartments,which are then moved relative to actin filaments. Binds tomembranes containing anionic phospholipids via its tail domain.Required for normal morphology of the glomerular basementmembrane, normal development of foot processes by kidney podocytesand normal kidney function. In dendritic cells, may control themovement of class II-containing cytoplasmic vesicles along theactin cytoskeleton by connecting them with the actin network viaARL14EP and ARL14. {ECO:0000269|PubMed:11940582,ECO:0000269|PubMed:17257598, ECO:0000269|PubMed:20860408}. | TFIIA is a component of the transcription machinery ofRNA polymerase II and plays an important role in transcriptionalactivation. TFIIA in a complex with TBP mediates transcriptionalactivity. {ECO:0000269|PubMed:11030333}. |
| 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 |
| Hgene | >MYO1E | chr15:59664697 | chr15:59934461 | ENST00000288235 | - | 1 | 28 | 1051_1108 | 1 | 1109 | Domain | SH3 |
| Hgene | >MYO1E | chr15:59664697 | chr15:59934461 | ENST00000288235 | - | 1 | 28 | 19_692 | 1 | 1109 | Domain | Myosin motor |
| Hgene | >MYO1E | chr15:59664697 | chr15:59934461 | ENST00000288235 | - | 1 | 28 | 695_724 | 1 | 1109 | Domain | IQ |
| Hgene | >MYO1E | chr15:59664697 | chr15:59934461 | ENST00000288235 | - | 1 | 28 | 730_922 | 1 | 1109 | Domain | TH1 |
| Hgene | >MYO1E | chr15:59664697 | chr15:59934461 | ENST00000288235 | - | 1 | 28 | 112_119 | 1 | 1109 | Nucleotide binding | ATP |
| Hgene | >MYO1E | chr15:59664697 | chr15:59934461 | ENST00000288235 | - | 1 | 28 | 581_591 | 1 | 1109 | Region | Actin-binding |
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FusionGeneSequence for MYO1E_GTF2A2 |
| 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_MYO1E_ENST00000288235_chr15_59664697_-_GTF2A2_ENST00000396060_chr15_59934461_-_52aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MYO1E_ENST00000288235_chr15_59664697_-_GTF2A2_ENST00000396060_chr15_59934461_-_156nt ATGGGCTCTCTAAATACGTACAGATTCTGCGATAATGTGTGGACTTTTGTACTGAATGATGTTGAATTCAGAGAGGTGACAGAACTTATT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MYO1E_ENST00000288235_chr15_59664697_-_GTF2A2_ENST00000396060_chr15_59934461_-_1626nt ATTTATGGACAGATTGCCCGGCCCGAGCCGAGACTCAGCCAGAGGAGTACGGATTAAGTGGCCGAAGAAAGAGGAGTGAGGCAGGGGAGC GAGGCGGACGCTCCGAGCGCATCGGACTCACCTGGGCCGGCGGCGACCGGCGAGTACGAGTGGACTCTTGCCCTCCGCAGCATGCGCCCC GCCTGCTAAGTCGCCGCCGTCTCGCCCTCACCTAGCACCGCCAATCCCGCCTGGATGGAGTCCCCTCTGGGTTCCCATTGGCTCCTGTGA GTGCTTGGGTGTCGGGAGCCTGTTTTTGGCGAGGGGAACCAACTTTTGAAGTTCGCCCAGAAGACTGCGTTCCAGCCCCAGTTCCCCGGC AGCGGGACCCGGCGAAGACGCGACCGCGGCGCGAGTCACCATGGGCTCTCTAAATACGTACAGATTCTGCGATAATGTGTGGACTTTTGT ACTGAATGATGTTGAATTCAGAGAGGTGACAGAACTTATTAAAGTGGATAAAGTGAAAATTGTAGCCTGTGATGGTAAAAATACTGGCTC CAATACTACAGAATGAATAGAAAAAATATGACTTTTTTACACCATCTTCTGTTATTCATTGCTTTTGAAGAGAAGCATAGAAGAGACTTT TTATTTATTCTAGAATTGCAGAAATGACTACACTGTGCTATACCAGAGAATTCCAGTAGAAAGAAACTTGTAACTCTGTAGCCTCTTACA TCACCTTTATTATACAGCATGAAAAACCATAACTTTTTTTTAAGGACAAAAGTTGTTGCCTTCCTAAGAACCTTCTTTAATAAACTCATT TTAAAACTCTGAGTAATAACTGGTGAAGCTATTAAGGTAGCAATATGAAGATATTAGATAATGCATTTTCCCATTTCCTTTGCAAGGAAC ATGATGCCCTTTCAGAATGCTTATTTCAATAAAGTCATGTTTTGTCAGTTGTAACTTTACCTGATGAAAGCATCAGCAGGGGCAAAACCA AACTCTGGATGGAATTTTTTAAGAAAATCCCTTGCTTTTTAAAATACAAAACCAAAGTTAATCATTGGTATAAAAAAACCCAAGTACAAC TTGATTAGGAAAAGTTAGACAATCATAGCAAAAACAAAACCAAAAAACTTTCCTTCTTAGACCAGGTAACATGAGGAAGGGGGAAAAAAA CCCAAACAAAATAGTCCCCCCACATGACAGGTGTCTTCAGCTTGCCATATTGATCCAAAGTTCATACATTTTATCATGTACAAGATACAT TAGACTTACAATAAAGTCTAATTATTAGACTTTTATGTCAGTGGATTGTGCTTGCAGAAATACAGAAGTAACATACTGACCCTAGGTGAG GAGTTTCTTACATGGTTAACTGGATTGACCCAATTGGAGTAAAAGATTTTTGCTGTTACCTCGATGCTCCTGCAGTTGTTACCTCAGCAT GCCACTGTAGTCCTTGACTCTCACATTAAAACTAACTTTGGCTAGGTACTGGTGGCTCACACCTGTAAGTAATCCCAGTACTTTAGGAGG CTGAGACTGGAGGATTACTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAATATAGACTGTCCCTACAAAGAAAATAAAATTGTTTCATC |
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FusionGenePPI for MYO1E_GTF2A2 |
| 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 |
| MYO1E | EMD, SP1, CUL1, DIAPH1, MOV10, DTNA, ILF3, MYH11, RNF20, PAN2, ASNS, ATIC, CAPNS1, ISOC1, MCTS1, STK26, OGFOD1, PAFAH1B1, PDIA4, PROSC, SNRPF, TBCB, YWHAH, RPA1, RPA2, RPA3, ENO1, SHMT2, NXF1, ARPC4-TTLL3, ARPC4, CAND1, MYH9, CTTN, FNBP1, LGALS3, STMN1, MYO5A, PPA1, SRPK2, CAPZA2, DBN1, FLNA, PDGFRB, PPP1CB, IQGAP1, SLC33A1, PDLIM7, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, ZNF764, OSTF1, UNC45A, RAC1, TRIM25 | GTF2A2 | TBPL1, TBP, TAF4, GTF2A1, TERF1, TERF2, GTF2A2, POLR2A, PTPN11 |
| - 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 MYO1E_GTF2A2 |
| 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 MYO1E_GTF2A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MYO1E | C3279905 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 | 1 | UNIPROT |
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