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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:TMEM248-ATOH8 (FusionGDB2 ID:91995) |
Fusion Gene Summary for TMEM248-ATOH8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM248-ATOH8 | Fusion gene ID: 91995 | Hgene | Tgene | Gene symbol | TMEM248 | ATOH8 | Gene ID | 55069 | 84913 |
| Gene name | transmembrane protein 248 | atonal bHLH transcription factor 8 | |
| Synonyms | C7orf42 | HATH6|bHLHa21 | |
| Cytomap | 7q11.21 | 2p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 248UPF0458 protein C7orf42 | protein atonal homolog 8atonal homolog 6atonal homolog 8atonal homolog bHLH transcription factor 8basic helix loop helix transcription factor 6class A basic helix-loop-helix protein 21helix-loop-helix protein hATH-6 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9NWD8 | Q96SQ7 | |
| Ensembl transtripts involved in fusion gene | ENST00000341567, | ENST00000463422, ENST00000306279, | |
| Fusion gene scores | * DoF score | 8 X 7 X 5=280 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TMEM248 [Title/Abstract] AND ATOH8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | TMEM248(66407011)-ATOH8(85991114), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | ATOH8 | GO:0045603 | positive regulation of endothelial cell differentiation | 24463812 |
| Tgene | ATOH8 | GO:0045893 | positive regulation of transcription, DNA-templated | 24236640 |
| Tgene | ATOH8 | GO:0060395 | SMAD protein signal transduction | 24236640 |
| Fusion gene breakpoints across TMEM248 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across ATOH8 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | ACC | TCGA-OR-A5KY-01A | TMEM248 | chr7 | 66407011 | + | ATOH8 | chr2 | 85991114 | + |
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Fusion Gene ORF analysis for TMEM248-ATOH8 |
| 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 |
| 5CDS-3UTR | ENST00000341567 | ENST00000463422 | TMEM248 | chr7 | 66407011 | + | ATOH8 | chr2 | 85991114 | + |
| In-frame | ENST00000341567 | ENST00000306279 | TMEM248 | chr7 | 66407011 | + | ATOH8 | chr2 | 85991114 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000341567 | TMEM248 | chr7 | 66407011 | + | ENST00000306279 | ATOH8 | chr2 | 85991114 | + | 1788 | 414 | 1121 | 1765 | 214 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000341567 | ENST00000306279 | TMEM248 | chr7 | 66407011 | + | ATOH8 | chr2 | 85991114 | + | 0.1311055 | 0.86889446 |
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Fusion Genomic Features for TMEM248-ATOH8 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| TMEM248 | chr7 | 66407011 | + | ATOH8 | chr2 | 85991113 | + | 3.07E-10 | 1 |
| TMEM248 | chr7 | 66407011 | + | ATOH8 | chr2 | 85991113 | + | 3.07E-10 | 1 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for TMEM248-ATOH8 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:66407011/chr2:85991114) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM248 | ATOH8 |
| FUNCTION: Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity). {ECO:0000250|UniProtKB:Q99NA2, ECO:0000269|PubMed:24236640, ECO:0000269|PubMed:24463812}. |
| 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 |
| Hgene | TMEM248 | chr7:66407011 | chr2:85991114 | ENST00000341567 | + | 2 | 7 | 21_41 | 53 | 315.0 | Transmembrane | Helical |
| - 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 | TMEM248 | chr7:66407011 | chr2:85991114 | ENST00000341567 | + | 2 | 7 | 179_199 | 53 | 315.0 | Transmembrane | Helical |
| Hgene | TMEM248 | chr7:66407011 | chr2:85991114 | ENST00000341567 | + | 2 | 7 | 236_258 | 53 | 315.0 | Transmembrane | Helical |
| Hgene | TMEM248 | chr7:66407011 | chr2:85991114 | ENST00000341567 | + | 2 | 7 | 270_290 | 53 | 315.0 | Transmembrane | Helical |
| Tgene | ATOH8 | chr7:66407011 | chr2:85991114 | ENST00000306279 | 0 | 3 | 69_187 | 256 | 322.0 | Compositional bias | Pro-rich | |
| Tgene | ATOH8 | chr7:66407011 | chr2:85991114 | ENST00000306279 | 0 | 3 | 230_282 | 256 | 322.0 | Domain | bHLH | |
| Tgene | ATOH8 | chr7:66407011 | chr2:85991114 | ENST00000306279 | 0 | 3 | 230_243 | 256 | 322.0 | Region | Basic motif%3B degenerate | |
| Tgene | ATOH8 | chr7:66407011 | chr2:85991114 | ENST00000306279 | 0 | 3 | 244_282 | 256 | 322.0 | Region | Helix-loop-helix motif |
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Fusion Gene Sequence for TMEM248-ATOH8 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >91995_91995_1_TMEM248-ATOH8_TMEM248_chr7_66407011_ENST00000341567_ATOH8_chr2_85991114_ENST00000306279_length(transcript)=1788nt_BP=414nt ACCCGGAAACCGCGGTTGCCGGAGCCCGAACTGAGGCGGCGGCGGGAGCCCGGTTGGCGTCTGGTCTTCGCGTCGGCCCCGCGGAGCCAG ACGCTGCCCCCGGCGCGGGGAGAAGATGGTGCCTAGCGGCCTCGGGCCCGCCACGCGCCGCCACGAGTGAGCCCAGCGCGACCGCGGGCG TCCGCCGAGCAGCTGGCCCGGCTGGGCCCGGGGCGCGCAGCTGCCCGCCGGGGCGGGGTGGAGCTGATCAGAATAATGTTCAGCATCAAC CCCCTGGAGAACCTGAAGGTGTACATCAGCAGTCGGCCTCCCCTGGTGGTCTTCATGATCAGCGTAAGCGCCATGGCCATAGCTTTCCTG ACCCTGGGCTACTTCTTCAAAATCAAGGAGATTAAATCCCCAGAAATGGCAGAGGTGCCGTGCTACTCATATGGGCAGAAGCTGTCCAAA CTGGCCATCCTGAGGATCGCCTGTAACTACATCCTGTCCCTGGCGCGGCTGGCTGACCTTGACTACAGTGCCGACCACAGCAACCTCAGC TTCTCCGAGTGTGTGCAGCGCTGCACCCGCACCCTGCAGGCCGAGGGACGTGCCAAGAAGCGCAAGGAGTGACTGGCTGCAGGCAAGACC AAGGCCACCACTGTGGGCCCTCCTTCCAGTCAGGCCTGAGGACAAGGTGAGCTCGCTGAGTCCAGCCTCGTGGTCTTCTCCAAGATGCCG CCAGATGCCCAGCCTACAGCCTCTCAGGGTCGGATCGGAGCACGCCTGCCTCCCTCTCCCCTCCGCCCTCACCCAGCCAATCCGAGGCTG CTTCGCACTTTGCCCTCTGCCTGGTGGGGAGGGGAGAGCTCAGCCCCCGACTCACTCAGACCCCAAGGCCCACTGTCCAGCTGCAGAAAT TCGTTGCCAAAGATTGGACAGAGACACCGAAGGAAATGGGGTGGTGAAACCCCACAGCGAAAAGCCACACCGTTGCTCTGTGACTTTTGC TCCTCCTGTTGCCTGAGCCCCATCTCAAGCCAAAGATGAGTCAGTGGTTCTGCTAGGAACTCATGGAATGGATGGGCATTTGATGACCCC TGGGGGTCATCTTGGCCCTCTGACCTGGTGCTCTCTCTCCACTGGGCCTTGTGCTGGCTGAGTGCAAGACAAGCCTTAGGGGCTGTGAGA GGGAGGCTGGGGTGCCTGGGCGGGGCTGGGAGTGGGACCTGAGATCCCTGCCCACTCTCTCCCCTTCATTGGCTGCCCAGGCCACTGGCC CCAGTTCTCAGTGTCCCTTGGGTCCAGGCTCCTTGGGCCCTAAGCATCACCAGAAGGGAGTAAGCAGGGAGAGAAGCAATATTACTCCCT CCCCTACACCAGGGACTTGCCCCAGGGCAGCTACCTATGGGTCTTTGCTTCCCCAGCCAGCCTCTCCTCACTGTGACCCACCCCCATGGG CCCCCGTCCCAGGCAGCCAGCACCATGGGCAGGCCCTGCCATGGACAGAAAAAGAGTTTTTCTCTTGTTCAGCCTGCACGTGGCCTGAGG AAGGAGTAGAGGCTGGGTTGGCTGGAGCCGTCCTACTGGGCAAGATGGCGCCCCACTTGGAGGGCGGTGGTCTGTTACAGGGTGTGCAGG GGCAGAGAAGGAAGGGACCAGGGGACTGGGCCAGTATGTGGAGGATGGGGCCTGCGTGTTCAAAGCCAAGGCCCGCCCCTTCCTTGTGCT >91995_91995_1_TMEM248-ATOH8_TMEM248_chr7_66407011_ENST00000341567_ATOH8_chr2_85991114_ENST00000306279_length(amino acids)=214AA_BP= MGLVLAECKTSLRGCEREAGVPGRGWEWDLRSLPTLSPSLAAQATGPSSQCPLGPGSLGPKHHQKGVSRERSNITPSPTPGTCPRAATYG SLLPQPASPHCDPPPWAPVPGSQHHGQALPWTEKEFFSCSACTWPEEGVEAGLAGAVLLGKMAPHLEGGGLLQGVQGQRRKGPGDWASMW -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for TMEM248-ATOH8 |
| 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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Related Drugs for TMEM248-ATOH8 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for TMEM248-ATOH8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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