|
||||||
|
 | 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:SOS2-CHD8 (FusionGDB2 ID:HG6655TG57680) |
Fusion Gene Summary for SOS2-CHD8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SOS2-CHD8 | Fusion gene ID: hg6655tg57680 | Hgene | Tgene | Gene symbol | SOS2 | CHD8 | Gene ID | 6655 | 57680 |
| Gene name | SOS Ras/Rho guanine nucleotide exchange factor 2 | chromodomain helicase DNA binding protein 8 | |
| Synonyms | NS9|SOS-2 | AUTS18|HELSNF1 | |
| Cytomap | ('SOS2')('CHD8') 14q21.3 | 14q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | son of sevenless homolog 2guanine nucleotide releasing factor | chromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1 | |
| Modification date | 20200327 | 20200329 | |
| UniProtAcc | . | . | |
| Ensembl transtripts involved in fusion gene | ENST00000216373, ENST00000543680, ENST00000555794, | ||
| Fusion gene scores | * DoF score | 12 X 11 X 6=792 | 10 X 10 X 6=600 |
| # samples | 15 | 13 | |
| ** MAII score | log2(15/792*10)=-2.40053792958373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/600*10)=-2.20645087746743 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SOS2 [Title/Abstract] AND CHD8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SOS2(50612194)-CHD8(21854335), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | SOS2-CHD8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SOS2-CHD8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SOS2-CHD8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SOS2-CHD8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 | CHD8 | GO:0045893 | positive regulation of transcription, DNA-templated | 17938208 |
| Tgene | CHD8 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18378692|22083958 |
| Fusion gene breakpoints across SOS2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene breakpoints across CHD8 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene information * 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 | ESCA | TCGA-LN-A4A1 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
Top |
Fusion Gene ORF analysis for SOS2-CHD8 |
| 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-intron | ENST00000216373 | ENST00000555962 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| 5CDS-intron | ENST00000543680 | ENST00000555962 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| In-frame | ENST00000216373 | ENST00000399982 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| In-frame | ENST00000216373 | ENST00000430710 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| In-frame | ENST00000216373 | ENST00000557364 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| In-frame | ENST00000543680 | ENST00000399982 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| In-frame | ENST00000543680 | ENST00000430710 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| In-frame | ENST00000543680 | ENST00000557364 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| intron-3CDS | ENST00000555794 | ENST00000399982 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| intron-3CDS | ENST00000555794 | ENST00000430710 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| intron-3CDS | ENST00000555794 | ENST00000557364 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| intron-intron | ENST00000555794 | ENST00000555962 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - |
| 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) |
| ENST00000216373 | SOS2 | chr14 | 50612194 | - | ENST00000430710 | CHD8 | chr14 | 21854335 | - | 3762 | 2779 | 209 | 2884 | 891 |
| ENST00000216373 | SOS2 | chr14 | 50612194 | - | ENST00000399982 | CHD8 | chr14 | 21854335 | - | 3761 | 2779 | 209 | 2884 | 891 |
| ENST00000216373 | SOS2 | chr14 | 50612194 | - | ENST00000557364 | CHD8 | chr14 | 21854335 | - | 3470 | 2779 | 209 | 2884 | 891 |
| ENST00000543680 | SOS2 | chr14 | 50612194 | - | ENST00000430710 | CHD8 | chr14 | 21854335 | - | 3414 | 2431 | 26 | 2536 | 836 |
| ENST00000543680 | SOS2 | chr14 | 50612194 | - | ENST00000399982 | CHD8 | chr14 | 21854335 | - | 3413 | 2431 | 26 | 2536 | 836 |
| ENST00000543680 | SOS2 | chr14 | 50612194 | - | ENST00000557364 | CHD8 | chr14 | 21854335 | - | 3122 | 2431 | 26 | 2536 | 836 |
| 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 |
| ENST00000216373 | ENST00000430710 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - | 0.002539536 | 0.9974605 |
| ENST00000216373 | ENST00000399982 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - | 0.002534867 | 0.99746513 |
| ENST00000216373 | ENST00000557364 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - | 0.003065939 | 0.99693406 |
| ENST00000543680 | ENST00000430710 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - | 0.002620711 | 0.9973793 |
| ENST00000543680 | ENST00000399982 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - | 0.002611263 | 0.9973888 |
| ENST00000543680 | ENST00000557364 | SOS2 | chr14 | 50612194 | - | CHD8 | chr14 | 21854335 | - | 0.003461584 | 0.9965384 |
Top |
Fusion Genomic Features for SOS2-CHD8 |
| 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) |
| 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. |
 |
Top |
Fusion Protein Features for SOS2-CHD8 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:50612194/chr14:21854335) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | . |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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 | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 755_758 | 834 | 1333.0 | Compositional bias | Note=Poly-Pro |
| Hgene | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 198_388 | 834 | 1333.0 | Domain | DH |
| Hgene | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 442_546 | 834 | 1333.0 | Domain | PH |
| Hgene | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 595_739 | 834 | 1333.0 | Domain | N-terminal Ras-GEF |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 2493_2508 | 2394 | 2582.0 | Compositional bias | His-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 2539_2581 | 2394 | 2582.0 | Compositional bias | Asp-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 2493_2508 | 2115 | 2303.0 | Compositional bias | His-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 2539_2581 | 2115 | 2303.0 | Compositional bias | Asp-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 2493_2508 | 2394 | 2582.0 | Compositional bias | His-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 2539_2581 | 2394 | 2582.0 | Compositional bias | Asp-rich |
| - 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 | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 1180_1183 | 834 | 1333.0 | Compositional bias | Note=Poly-Pro |
| Hgene | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 1203_1208 | 834 | 1333.0 | Compositional bias | Note=Poly-Pro |
| Hgene | SOS2 | chr14:50612194 | chr14:21854335 | ENST00000216373 | - | 15 | 23 | 778_1017 | 834 | 1333.0 | Domain | Ras-GEF |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 2069_2098 | 2394 | 2582.0 | Compositional bias | Ser-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 292_410 | 2394 | 2582.0 | Compositional bias | Gln-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 2069_2098 | 2115 | 2303.0 | Compositional bias | Ser-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 292_410 | 2115 | 2303.0 | Compositional bias | Gln-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 2069_2098 | 2394 | 2582.0 | Compositional bias | Ser-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 292_410 | 2394 | 2582.0 | Compositional bias | Gln-rich | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 1137_1288 | 2394 | 2582.0 | Domain | Helicase C-terminal | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 642_709 | 2394 | 2582.0 | Domain | Chromo 1 | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 724_790 | 2394 | 2582.0 | Domain | Chromo 2 | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 823_997 | 2394 | 2582.0 | Domain | Helicase ATP-binding | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 1137_1288 | 2115 | 2303.0 | Domain | Helicase C-terminal | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 642_709 | 2115 | 2303.0 | Domain | Chromo 1 | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 724_790 | 2115 | 2303.0 | Domain | Chromo 2 | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 823_997 | 2115 | 2303.0 | Domain | Helicase ATP-binding | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 1137_1288 | 2394 | 2582.0 | Domain | Helicase C-terminal | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 642_709 | 2394 | 2582.0 | Domain | Chromo 1 | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 724_790 | 2394 | 2582.0 | Domain | Chromo 2 | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 823_997 | 2394 | 2582.0 | Domain | Helicase ATP-binding | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 948_951 | 2394 | 2582.0 | Motif | DEAH box | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 948_951 | 2115 | 2303.0 | Motif | DEAH box | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 948_951 | 2394 | 2582.0 | Motif | DEAH box | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 836_843 | 2394 | 2582.0 | Nucleotide binding | ATP | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 836_843 | 2115 | 2303.0 | Nucleotide binding | ATP | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 836_843 | 2394 | 2582.0 | Nucleotide binding | ATP |
Top |
Fusion Gene Sequence for SOS2-CHD8 |
| 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. |
| >85267_85267_1_SOS2-CHD8_SOS2_chr14_50612194_ENST00000216373_CHD8_chr14_21854335_ENST00000399982_length(transcript)=3761nt_BP=2779nt GGGAAAGGAGGTCGCCGCCCGGGGTCGCCCGGGCTTGCGGGTCGCCGCGCTTCCTCTGCGGGCGCTGCGGGAGGCGAGGGCCGCCTCGGC GGAGGAAGCCGACCCCGGGGTCTCCGCCAGCCCGCCGGCGCCGCCTCCGAGCCGCCTCGGCCGTAGCCTCGGCCCGGGCGGGAGGCGGCG GCCGCCGGCGAGGCGAGGCGGCCCGCGCCCTGCCTGTCAGGCCACCGGCCCGGCCCGCGGGCTGCCCCCGATGCGGAGGCGCTGTCGCCG GGGCCATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGGGGACTGTTGGTCTCGGCCCTGCGGA AGGTTCAGGAACAAGTGCATCCCACTCTCTCAGCTAATGAAGAGTCTCTCTATTATATTGAAGAGCTGATTTTTCAGCTGCTTAATAAAT TATGCATGGCCCAGCCAAGGACTGTTCAAGATGTAGAGGAGCGAGTTCAGAAGACCTTTCCTCACCCAATTGATAAATGGGCCATTGCTG ATGCACAATCTGCTATAGAAAAACGAAAACGAAGAAATCCTCTTTTACTGCCTGTGGACAAAATCCATCCTTCGTTGAAGGAAGTATTAG GGTACAAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGATATTTTAAAATTGGCTGGTAATTATG TTTTTAATATCCGGCATTATGAAATATCTCAGCAGGACATTAAAGTGTCAATGTGTGCGGATAAGGTTTTGATGGACATGTTTGATCAGG ATGACATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTATGATCTTGTCAGAACTGAAATCGCAG AAGAAAGACAGTATCTACGGGAATTAAATATGATCATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATAGAAAGCTGTTTAAACCTTCTG ATATCGAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTGATTGAAGACACAGTTGAAATGACTG ATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGTTTTGAAGATTTGGCAGAAGAGCAAGCATTTGATCCTTATGAAACATTATCACAGG ACATTCTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTACACTTTCAGTCCATTGCTGATGGTT TTAAAGAGGCAGTTCGTTATGTCCTTCCACGTCTTATGCTGGTGCCAGTGTATCACTGTTGGCACTACTTTGAGTTACTAAAGCAATTGA AAGCATGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAATCTCCAAGGTAGCATGGACCGAATTT ACAAGCAGTATTCACCTAGACGTCGACCTGGAGATCCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACCTGGCTATCAAAA AAATGAATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAATGAATTCATTATGGAGGGACCATTGA CAAGAATCGGTGCCAAACATGAACGGCATATTTTTCTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCCAGACTCGGCTTC CAGGTTACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGTGATAAAGAAGATACTTGTGAGCACA AGCATGCATTTGAATTAGTATCCAAAGATGAGAACAGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACTGGATGGCAGCCC TTATTTCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAAAATGAGCAACCACTGAGATTACCAA GTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCTGAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTGGCATCCCCATTA TTAAAGGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAGATCCCAATTTTGTTCGTACTTTTCTTACCACAT ATCGTTCATTTTGTAAACCACAGGAATTGCTGAGCTTACTGATTGAACGGTTTGAAATTCCAGAGCCAGAACCTACTGACGCAGACAAAT TGGCAATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTCCAACCAGTACAACTTAGGATCTTAA ATGTATTTCGGCATTGGGTTGAACATCATTTTTATGACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCTTCATTTCAAGTG TAAGAGGGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAAGCTCAGGCAAACGGAGTAAGCCATA ATATTACCTTTGAAAGTCCACCTCCACCAATTGAATGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCATGACACTTCATC CAATAGAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAGGAAAGTTCAACCGTCTGAACTTGTAGGGAGTGTGTGGACCA AAGAAGATAAAGAAATAAATTCTCCAAATTTATTAAAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAAAGGTCATCACAC TGAAACGGTGTTCAACCGGGTTTTGCCAGGGCCTATTGCACCAGAGAGCAGCAAGAAGCGGGCCCGTAGGATGCGACCAGACCTTTCTAA GATGATGGCCCTCATGCAGGGTGGAAGCACTGGGTCTCTATCTCTGCATAACACGTTCCAACACAGCAGTAGTGGCCTACAGTCTGTGTC ATCTTTGGGTCACAGCAGTGCCACTTCTGCATCTTTGCCTTTTATGCCATTTGTGATGGGTGGTGCACCATCATCCCCTCATGTAGACTC CAGCACCATGCTTCATCACCACCACCACCACCCCCACCCCCACCATCACCACCATCACCATCCAGGCTTGAGAGCCCCTGGCTACCCCTC TTCACCAGTGACTACCGCCTCTGGTACTACCTTGCGGTTGCCACCACTGCAACCTGAGGAGGATGACGATGAGGATGAAGAAGATGATGA TGACTTATCTCAGGGCTATGATAGCTCAGAAAGGGACTTCTCACTCATTGATGATCCTATGATGCCAGCTAACTCAGACTCCAGTGAAGA TGCTGATGACTGAAGCCCCAGCATGGGCCCCATTGCTTGGGCGGCTGCTGTATTTTCATTTACTCTGGCCCTTGGACTATGGAAACGTGG GAGGGGCAGGGGAGATGTGGGGAAGTCCAGGACTCCAGGAGGTGAAAAGGAAAAAAAAAAAAAAATGTACCTGATTGCTCCCAATTATGA GAGGATTGGGTGGGCAGGGGAACTCCTAAAATAATACATGACCACTTCCTCATTTCTGGGGAAGGAAAGGAGACTAGAGCAGCTGGTGTG CTCACCCCTCCCTAGTCACCTCCATTAACCACAGACTATGTAGCGCTGGCCCTAGCCTCTGGCAGAGCCTGTTCCTGGCCGAACTGTGGA >85267_85267_1_SOS2-CHD8_SOS2_chr14_50612194_ENST00000216373_CHD8_chr14_21854335_ENST00000399982_length(amino acids)=891AA_BP=857 MPVRPPARPAGCPRCGGAVAGAMQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQ DVEERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEIS QQDIKVSMCADKVLMDMFDQDDIGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNIS DIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLP RLMLVPVYHCWHYFELLKQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNID GWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKD ENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLI ERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHH FYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTL -------------------------------------------------------------- >85267_85267_2_SOS2-CHD8_SOS2_chr14_50612194_ENST00000216373_CHD8_chr14_21854335_ENST00000430710_length(transcript)=3762nt_BP=2779nt GGGAAAGGAGGTCGCCGCCCGGGGTCGCCCGGGCTTGCGGGTCGCCGCGCTTCCTCTGCGGGCGCTGCGGGAGGCGAGGGCCGCCTCGGC GGAGGAAGCCGACCCCGGGGTCTCCGCCAGCCCGCCGGCGCCGCCTCCGAGCCGCCTCGGCCGTAGCCTCGGCCCGGGCGGGAGGCGGCG GCCGCCGGCGAGGCGAGGCGGCCCGCGCCCTGCCTGTCAGGCCACCGGCCCGGCCCGCGGGCTGCCCCCGATGCGGAGGCGCTGTCGCCG GGGCCATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGGGGACTGTTGGTCTCGGCCCTGCGGA AGGTTCAGGAACAAGTGCATCCCACTCTCTCAGCTAATGAAGAGTCTCTCTATTATATTGAAGAGCTGATTTTTCAGCTGCTTAATAAAT TATGCATGGCCCAGCCAAGGACTGTTCAAGATGTAGAGGAGCGAGTTCAGAAGACCTTTCCTCACCCAATTGATAAATGGGCCATTGCTG ATGCACAATCTGCTATAGAAAAACGAAAACGAAGAAATCCTCTTTTACTGCCTGTGGACAAAATCCATCCTTCGTTGAAGGAAGTATTAG GGTACAAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGATATTTTAAAATTGGCTGGTAATTATG TTTTTAATATCCGGCATTATGAAATATCTCAGCAGGACATTAAAGTGTCAATGTGTGCGGATAAGGTTTTGATGGACATGTTTGATCAGG ATGACATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTATGATCTTGTCAGAACTGAAATCGCAG AAGAAAGACAGTATCTACGGGAATTAAATATGATCATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATAGAAAGCTGTTTAAACCTTCTG ATATCGAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTGATTGAAGACACAGTTGAAATGACTG ATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGTTTTGAAGATTTGGCAGAAGAGCAAGCATTTGATCCTTATGAAACATTATCACAGG ACATTCTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTACACTTTCAGTCCATTGCTGATGGTT TTAAAGAGGCAGTTCGTTATGTCCTTCCACGTCTTATGCTGGTGCCAGTGTATCACTGTTGGCACTACTTTGAGTTACTAAAGCAATTGA AAGCATGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAATCTCCAAGGTAGCATGGACCGAATTT ACAAGCAGTATTCACCTAGACGTCGACCTGGAGATCCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACCTGGCTATCAAAA AAATGAATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAATGAATTCATTATGGAGGGACCATTGA CAAGAATCGGTGCCAAACATGAACGGCATATTTTTCTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCCAGACTCGGCTTC CAGGTTACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGTGATAAAGAAGATACTTGTGAGCACA AGCATGCATTTGAATTAGTATCCAAAGATGAGAACAGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACTGGATGGCAGCCC TTATTTCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAAAATGAGCAACCACTGAGATTACCAA GTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCTGAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTGGCATCCCCATTA TTAAAGGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAGATCCCAATTTTGTTCGTACTTTTCTTACCACAT ATCGTTCATTTTGTAAACCACAGGAATTGCTGAGCTTACTGATTGAACGGTTTGAAATTCCAGAGCCAGAACCTACTGACGCAGACAAAT TGGCAATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTCCAACCAGTACAACTTAGGATCTTAA ATGTATTTCGGCATTGGGTTGAACATCATTTTTATGACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCTTCATTTCAAGTG TAAGAGGGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAAGCTCAGGCAAACGGAGTAAGCCATA ATATTACCTTTGAAAGTCCACCTCCACCAATTGAATGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCATGACACTTCATC CAATAGAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAGGAAAGTTCAACCGTCTGAACTTGTAGGGAGTGTGTGGACCA AAGAAGATAAAGAAATAAATTCTCCAAATTTATTAAAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAAAGGTCATCACAC TGAAACGGTGTTCAACCGGGTTTTGCCAGGGCCTATTGCACCAGAGAGCAGCAAGAAGCGGGCCCGTAGGATGCGACCAGACCTTTCTAA GATGATGGCCCTCATGCAGGGTGGAAGCACTGGGTCTCTATCTCTGCATAACACGTTCCAACACAGCAGTAGTGGCCTACAGTCTGTGTC ATCTTTGGGTCACAGCAGTGCCACTTCTGCATCTTTGCCTTTTATGCCATTTGTGATGGGTGGTGCACCATCATCCCCTCATGTAGACTC CAGCACCATGCTTCATCACCACCACCACCACCCCCACCCCCACCATCACCACCATCACCATCCAGGCTTGAGAGCCCCTGGCTACCCCTC TTCACCAGTGACTACCGCCTCTGGTACTACCTTGCGGTTGCCACCACTGCAACCTGAGGAGGATGACGATGAGGATGAAGAAGATGATGA TGACTTATCTCAGGGCTATGATAGCTCAGAAAGGGACTTCTCACTCATTGATGATCCTATGATGCCAGCTAACTCAGACTCCAGTGAAGA TGCTGATGACTGAAGCCCCAGCATGGGCCCCATTGCTTGGGCGGCTGCTGTATTTTCATTTACTCTGGCCCTTGGACTATGGAAACGTGG GAGGGGCAGGGGAGATGTGGGGAAGTCCAGGACTCCAGGAGGTGAAAAGGAAAAAAAAAAAAAAATGTACCTGATTGCTCCCAATTATGA GAGGATTGGGTGGGCAGGGGAACTCCTAAAATAATACATGACCACTTCCTCATTTCTGGGGAAGGAAAGGAGACTAGAGCAGCTGGTGTG CTCACCCCTCCCTAGTCACCTCCATTAACCACAGACTATGTAGCGCTGGCCCTAGCCTCTGGCAGAGCCTGTTCCTGGCCGAACTGTGGA >85267_85267_2_SOS2-CHD8_SOS2_chr14_50612194_ENST00000216373_CHD8_chr14_21854335_ENST00000430710_length(amino acids)=891AA_BP=857 MPVRPPARPAGCPRCGGAVAGAMQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQ DVEERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEIS QQDIKVSMCADKVLMDMFDQDDIGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNIS DIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLP RLMLVPVYHCWHYFELLKQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNID GWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKD ENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLI ERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHH FYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTL -------------------------------------------------------------- >85267_85267_3_SOS2-CHD8_SOS2_chr14_50612194_ENST00000216373_CHD8_chr14_21854335_ENST00000557364_length(transcript)=3470nt_BP=2779nt GGGAAAGGAGGTCGCCGCCCGGGGTCGCCCGGGCTTGCGGGTCGCCGCGCTTCCTCTGCGGGCGCTGCGGGAGGCGAGGGCCGCCTCGGC GGAGGAAGCCGACCCCGGGGTCTCCGCCAGCCCGCCGGCGCCGCCTCCGAGCCGCCTCGGCCGTAGCCTCGGCCCGGGCGGGAGGCGGCG GCCGCCGGCGAGGCGAGGCGGCCCGCGCCCTGCCTGTCAGGCCACCGGCCCGGCCCGCGGGCTGCCCCCGATGCGGAGGCGCTGTCGCCG GGGCCATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGGGGACTGTTGGTCTCGGCCCTGCGGA AGGTTCAGGAACAAGTGCATCCCACTCTCTCAGCTAATGAAGAGTCTCTCTATTATATTGAAGAGCTGATTTTTCAGCTGCTTAATAAAT TATGCATGGCCCAGCCAAGGACTGTTCAAGATGTAGAGGAGCGAGTTCAGAAGACCTTTCCTCACCCAATTGATAAATGGGCCATTGCTG ATGCACAATCTGCTATAGAAAAACGAAAACGAAGAAATCCTCTTTTACTGCCTGTGGACAAAATCCATCCTTCGTTGAAGGAAGTATTAG GGTACAAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGATATTTTAAAATTGGCTGGTAATTATG TTTTTAATATCCGGCATTATGAAATATCTCAGCAGGACATTAAAGTGTCAATGTGTGCGGATAAGGTTTTGATGGACATGTTTGATCAGG ATGACATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTATGATCTTGTCAGAACTGAAATCGCAG AAGAAAGACAGTATCTACGGGAATTAAATATGATCATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATAGAAAGCTGTTTAAACCTTCTG ATATCGAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTGATTGAAGACACAGTTGAAATGACTG ATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGTTTTGAAGATTTGGCAGAAGAGCAAGCATTTGATCCTTATGAAACATTATCACAGG ACATTCTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTACACTTTCAGTCCATTGCTGATGGTT TTAAAGAGGCAGTTCGTTATGTCCTTCCACGTCTTATGCTGGTGCCAGTGTATCACTGTTGGCACTACTTTGAGTTACTAAAGCAATTGA AAGCATGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAATCTCCAAGGTAGCATGGACCGAATTT ACAAGCAGTATTCACCTAGACGTCGACCTGGAGATCCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACCTGGCTATCAAAA AAATGAATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAATGAATTCATTATGGAGGGACCATTGA CAAGAATCGGTGCCAAACATGAACGGCATATTTTTCTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCCAGACTCGGCTTC CAGGTTACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGTGATAAAGAAGATACTTGTGAGCACA AGCATGCATTTGAATTAGTATCCAAAGATGAGAACAGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACTGGATGGCAGCCC TTATTTCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAAAATGAGCAACCACTGAGATTACCAA GTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCTGAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTGGCATCCCCATTA TTAAAGGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAGATCCCAATTTTGTTCGTACTTTTCTTACCACAT ATCGTTCATTTTGTAAACCACAGGAATTGCTGAGCTTACTGATTGAACGGTTTGAAATTCCAGAGCCAGAACCTACTGACGCAGACAAAT TGGCAATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTCCAACCAGTACAACTTAGGATCTTAA ATGTATTTCGGCATTGGGTTGAACATCATTTTTATGACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCTTCATTTCAAGTG TAAGAGGGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAAGCTCAGGCAAACGGAGTAAGCCATA ATATTACCTTTGAAAGTCCACCTCCACCAATTGAATGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCATGACACTTCATC CAATAGAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAGGAAAGTTCAACCGTCTGAACTTGTAGGGAGTGTGTGGACCA AAGAAGATAAAGAAATAAATTCTCCAAATTTATTAAAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAAAGGTCATCACAC TGAAACGGTGTTCAACCGGGTTTTGCCAGGGCCTATTGCACCAGAGAGCAGCAAGAAGCGGGCCCGTAGGATGCGACCAGACCTTTCTAA GATGATGGCCCTCATGCAGGGTGGAAGCACTGGGTCTCTATCTCTGCATAACACGTTCCAACACAGCAGTAGTGGCCTACAGTCTGTGTC ATCTTTGGGTCACAGCAGTGCCACTTCTGCATCTTTGCCTTTTATGCCATTTGTGATGGGTGGTGCACCATCATCCCCTCATGTAGACTC CAGCACCATGCTTCATCACCACCACCACCACCCCCACCCCCACCATCACCACCATCACCATCCAGGCTTGAGAGCCCCTGGCTACCCCTC TTCACCAGTGACTACCGCCTCTGGTACTACCTTGCGGTTGCCACCACTGCAACCTGAGGAGGATGACGATGAGGATGAAGAAGATGATGA TGACTTATCTCAGGGCTATGATAGCTCAGAAAGGGACTTCTCACTCATTGATGATCCTATGATGCCAGCTAACTCAGACTCCAGTGAAGA TGCTGATGACTGAAGCCCCAGCATGGGCCCCATTGCTTGGGCGGCTGCTGTATTTTCATTTACTCTGGCCCTTGGACTATGGAAACGTGG >85267_85267_3_SOS2-CHD8_SOS2_chr14_50612194_ENST00000216373_CHD8_chr14_21854335_ENST00000557364_length(amino acids)=891AA_BP=857 MPVRPPARPAGCPRCGGAVAGAMQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQ DVEERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEIS QQDIKVSMCADKVLMDMFDQDDIGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNIS DIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLP RLMLVPVYHCWHYFELLKQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNID GWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKD ENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLI ERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHH FYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTL -------------------------------------------------------------- >85267_85267_4_SOS2-CHD8_SOS2_chr14_50612194_ENST00000543680_CHD8_chr14_21854335_ENST00000399982_length(transcript)=3413nt_BP=2431nt GATGCGGAGGCGCTGTCGCCGGGGCCATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGGGGAC TGTTGGTCTCGGCCCTGCGGAAGGTTCAGGAACAAGTGCATCCCACTCTCTCAGCTAATGAAGAGTCTCTCTATTATATTGAAGAGCTGA TTTTTCAGCTGCTTAATAAATTATGCATGGCCCAGCCAAGGACTGTTCAAGATGTAGAGGAGCGAGTTCAGAAGACCTTTCCTCACCCAA TTGATAAATGGGCCATTGCTGATGCACAATCTGCTATAGAAAAACGAAAACGAAGAAATCCTCTTTTACTGCCTGTGGACAAAATCCATC CTTCGTTGAAGGAAGTATTAGGGTACAAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGATATTT TAAAATTGGCTGGTAATTATGTTTTTAATATCCGGCATTATGAAATATCTCAGCAGGACATTAAAGTGTCAATGTGTGCGGATAAGGTTT TGATGGACATGTTTGATCAGGATGACATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTATGATC TTGTCAGAACTGAAATCGCAGAAGAAAGACAGTATCTACGGGAATTAAATATGATCATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATA GAAAGCTGTTTAAACCTTCTGATATCGAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTGATTG AAGACACAGTTGAAATGACTGATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGTTTTGAAGATTTGGCAGAAGAGCAAGCATTTGATC CTTATGAAACATTATCACAGGACATTCTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTACACT TTCAGCAATTGAAAGCATGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAATCTCCAAGGTAGCA TGGACCGAATTTACAAGCAGTATTCACCTAGACGTCGACCTGGAGATCCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACC TGGCTATCAAAAAAATGAATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAATGAATTCATTATGG AGGGACCATTGACAAGAATCGGTGCCAAACATGAACGGCATATTTTTCTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCC AGACTCGGCTTCCAGGTTACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGTGATAAAGAAGATA CTTGTGAGCACAAGCATGCATTTGAATTAGTATCCAAAGATGAGAACAGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACT GGATGGCAGCCCTTATTTCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAAAATGAGCAACCAC TGAGATTACCAAGTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCTGAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTG GCATCCCCATTATTAAAGGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAGATCCCAATTTTGTTCGTACTT TTCTTACCACATATCGTTCATTTTGTAAACCACAGGAATTGCTGAGCTTACTGATTGAACGGTTTGAAATTCCAGAGCCAGAACCTACTG ACGCAGACAAATTGGCAATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTCCAACCAGTACAAC TTAGGATCTTAAATGTATTTCGGCATTGGGTTGAACATCATTTTTATGACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCT TCATTTCAAGTGTAAGAGGGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAAGCTCAGGCAAACG GAGTAAGCCATAATATTACCTTTGAAAGTCCACCTCCACCAATTGAATGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCA TGACACTTCATCCAATAGAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAGGAAAGTTCAACCGTCTGAACTTGTAGGGA GTGTGTGGACCAAAGAAGATAAAGAAATAAATTCTCCAAATTTATTAAAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAA AGGTCATCACACTGAAACGGTGTTCAACCGGGTTTTGCCAGGGCCTATTGCACCAGAGAGCAGCAAGAAGCGGGCCCGTAGGATGCGACC AGACCTTTCTAAGATGATGGCCCTCATGCAGGGTGGAAGCACTGGGTCTCTATCTCTGCATAACACGTTCCAACACAGCAGTAGTGGCCT ACAGTCTGTGTCATCTTTGGGTCACAGCAGTGCCACTTCTGCATCTTTGCCTTTTATGCCATTTGTGATGGGTGGTGCACCATCATCCCC TCATGTAGACTCCAGCACCATGCTTCATCACCACCACCACCACCCCCACCCCCACCATCACCACCATCACCATCCAGGCTTGAGAGCCCC TGGCTACCCCTCTTCACCAGTGACTACCGCCTCTGGTACTACCTTGCGGTTGCCACCACTGCAACCTGAGGAGGATGACGATGAGGATGA AGAAGATGATGATGACTTATCTCAGGGCTATGATAGCTCAGAAAGGGACTTCTCACTCATTGATGATCCTATGATGCCAGCTAACTCAGA CTCCAGTGAAGATGCTGATGACTGAAGCCCCAGCATGGGCCCCATTGCTTGGGCGGCTGCTGTATTTTCATTTACTCTGGCCCTTGGACT ATGGAAACGTGGGAGGGGCAGGGGAGATGTGGGGAAGTCCAGGACTCCAGGAGGTGAAAAGGAAAAAAAAAAAAAAATGTACCTGATTGC TCCCAATTATGAGAGGATTGGGTGGGCAGGGGAACTCCTAAAATAATACATGACCACTTCCTCATTTCTGGGGAAGGAAAGGAGACTAGA GCAGCTGGTGTGCTCACCCCTCCCTAGTCACCTCCATTAACCACAGACTATGTAGCGCTGGCCCTAGCCTCTGGCAGAGCCTGTTCCTGG >85267_85267_4_SOS2-CHD8_SOS2_chr14_50612194_ENST00000543680_CHD8_chr14_21854335_ENST00000399982_length(amino acids)=836AA_BP=802 MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQDVEERVQKTFPHPIDKWAIADA QSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDD IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNISDIHELTVKLLGLIEDTVEMTDE SSPHPLAGSCFEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYS PRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSS AEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVY RFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEK GEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFE SPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKVITLKRCS -------------------------------------------------------------- >85267_85267_5_SOS2-CHD8_SOS2_chr14_50612194_ENST00000543680_CHD8_chr14_21854335_ENST00000430710_length(transcript)=3414nt_BP=2431nt GATGCGGAGGCGCTGTCGCCGGGGCCATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGGGGAC TGTTGGTCTCGGCCCTGCGGAAGGTTCAGGAACAAGTGCATCCCACTCTCTCAGCTAATGAAGAGTCTCTCTATTATATTGAAGAGCTGA TTTTTCAGCTGCTTAATAAATTATGCATGGCCCAGCCAAGGACTGTTCAAGATGTAGAGGAGCGAGTTCAGAAGACCTTTCCTCACCCAA TTGATAAATGGGCCATTGCTGATGCACAATCTGCTATAGAAAAACGAAAACGAAGAAATCCTCTTTTACTGCCTGTGGACAAAATCCATC CTTCGTTGAAGGAAGTATTAGGGTACAAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGATATTT TAAAATTGGCTGGTAATTATGTTTTTAATATCCGGCATTATGAAATATCTCAGCAGGACATTAAAGTGTCAATGTGTGCGGATAAGGTTT TGATGGACATGTTTGATCAGGATGACATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTATGATC TTGTCAGAACTGAAATCGCAGAAGAAAGACAGTATCTACGGGAATTAAATATGATCATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATA GAAAGCTGTTTAAACCTTCTGATATCGAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTGATTG AAGACACAGTTGAAATGACTGATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGTTTTGAAGATTTGGCAGAAGAGCAAGCATTTGATC CTTATGAAACATTATCACAGGACATTCTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTACACT TTCAGCAATTGAAAGCATGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAATCTCCAAGGTAGCA TGGACCGAATTTACAAGCAGTATTCACCTAGACGTCGACCTGGAGATCCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACC TGGCTATCAAAAAAATGAATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAATGAATTCATTATGG AGGGACCATTGACAAGAATCGGTGCCAAACATGAACGGCATATTTTTCTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCC AGACTCGGCTTCCAGGTTACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGTGATAAAGAAGATA CTTGTGAGCACAAGCATGCATTTGAATTAGTATCCAAAGATGAGAACAGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACT GGATGGCAGCCCTTATTTCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAAAATGAGCAACCAC TGAGATTACCAAGTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCTGAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTG GCATCCCCATTATTAAAGGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAGATCCCAATTTTGTTCGTACTT TTCTTACCACATATCGTTCATTTTGTAAACCACAGGAATTGCTGAGCTTACTGATTGAACGGTTTGAAATTCCAGAGCCAGAACCTACTG ACGCAGACAAATTGGCAATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTCCAACCAGTACAAC TTAGGATCTTAAATGTATTTCGGCATTGGGTTGAACATCATTTTTATGACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCT TCATTTCAAGTGTAAGAGGGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAAGCTCAGGCAAACG GAGTAAGCCATAATATTACCTTTGAAAGTCCACCTCCACCAATTGAATGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCA TGACACTTCATCCAATAGAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAGGAAAGTTCAACCGTCTGAACTTGTAGGGA GTGTGTGGACCAAAGAAGATAAAGAAATAAATTCTCCAAATTTATTAAAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAA AGGTCATCACACTGAAACGGTGTTCAACCGGGTTTTGCCAGGGCCTATTGCACCAGAGAGCAGCAAGAAGCGGGCCCGTAGGATGCGACC AGACCTTTCTAAGATGATGGCCCTCATGCAGGGTGGAAGCACTGGGTCTCTATCTCTGCATAACACGTTCCAACACAGCAGTAGTGGCCT ACAGTCTGTGTCATCTTTGGGTCACAGCAGTGCCACTTCTGCATCTTTGCCTTTTATGCCATTTGTGATGGGTGGTGCACCATCATCCCC TCATGTAGACTCCAGCACCATGCTTCATCACCACCACCACCACCCCCACCCCCACCATCACCACCATCACCATCCAGGCTTGAGAGCCCC TGGCTACCCCTCTTCACCAGTGACTACCGCCTCTGGTACTACCTTGCGGTTGCCACCACTGCAACCTGAGGAGGATGACGATGAGGATGA AGAAGATGATGATGACTTATCTCAGGGCTATGATAGCTCAGAAAGGGACTTCTCACTCATTGATGATCCTATGATGCCAGCTAACTCAGA CTCCAGTGAAGATGCTGATGACTGAAGCCCCAGCATGGGCCCCATTGCTTGGGCGGCTGCTGTATTTTCATTTACTCTGGCCCTTGGACT ATGGAAACGTGGGAGGGGCAGGGGAGATGTGGGGAAGTCCAGGACTCCAGGAGGTGAAAAGGAAAAAAAAAAAAAAATGTACCTGATTGC TCCCAATTATGAGAGGATTGGGTGGGCAGGGGAACTCCTAAAATAATACATGACCACTTCCTCATTTCTGGGGAAGGAAAGGAGACTAGA GCAGCTGGTGTGCTCACCCCTCCCTAGTCACCTCCATTAACCACAGACTATGTAGCGCTGGCCCTAGCCTCTGGCAGAGCCTGTTCCTGG >85267_85267_5_SOS2-CHD8_SOS2_chr14_50612194_ENST00000543680_CHD8_chr14_21854335_ENST00000430710_length(amino acids)=836AA_BP=802 MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQDVEERVQKTFPHPIDKWAIADA QSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDD IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNISDIHELTVKLLGLIEDTVEMTDE SSPHPLAGSCFEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYS PRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSS AEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVY RFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEK GEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFE SPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKVITLKRCS -------------------------------------------------------------- >85267_85267_6_SOS2-CHD8_SOS2_chr14_50612194_ENST00000543680_CHD8_chr14_21854335_ENST00000557364_length(transcript)=3122nt_BP=2431nt GATGCGGAGGCGCTGTCGCCGGGGCCATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGGGGAC TGTTGGTCTCGGCCCTGCGGAAGGTTCAGGAACAAGTGCATCCCACTCTCTCAGCTAATGAAGAGTCTCTCTATTATATTGAAGAGCTGA TTTTTCAGCTGCTTAATAAATTATGCATGGCCCAGCCAAGGACTGTTCAAGATGTAGAGGAGCGAGTTCAGAAGACCTTTCCTCACCCAA TTGATAAATGGGCCATTGCTGATGCACAATCTGCTATAGAAAAACGAAAACGAAGAAATCCTCTTTTACTGCCTGTGGACAAAATCCATC CTTCGTTGAAGGAAGTATTAGGGTACAAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGATATTT TAAAATTGGCTGGTAATTATGTTTTTAATATCCGGCATTATGAAATATCTCAGCAGGACATTAAAGTGTCAATGTGTGCGGATAAGGTTT TGATGGACATGTTTGATCAGGATGACATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTATGATC TTGTCAGAACTGAAATCGCAGAAGAAAGACAGTATCTACGGGAATTAAATATGATCATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATA GAAAGCTGTTTAAACCTTCTGATATCGAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTGATTG AAGACACAGTTGAAATGACTGATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGTTTTGAAGATTTGGCAGAAGAGCAAGCATTTGATC CTTATGAAACATTATCACAGGACATTCTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTACACT TTCAGCAATTGAAAGCATGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAATCTCCAAGGTAGCA TGGACCGAATTTACAAGCAGTATTCACCTAGACGTCGACCTGGAGATCCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACC TGGCTATCAAAAAAATGAATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAATGAATTCATTATGG AGGGACCATTGACAAGAATCGGTGCCAAACATGAACGGCATATTTTTCTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCC AGACTCGGCTTCCAGGTTACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGTGATAAAGAAGATA CTTGTGAGCACAAGCATGCATTTGAATTAGTATCCAAAGATGAGAACAGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACT GGATGGCAGCCCTTATTTCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAAAATGAGCAACCAC TGAGATTACCAAGTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCTGAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTG GCATCCCCATTATTAAAGGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAGATCCCAATTTTGTTCGTACTT TTCTTACCACATATCGTTCATTTTGTAAACCACAGGAATTGCTGAGCTTACTGATTGAACGGTTTGAAATTCCAGAGCCAGAACCTACTG ACGCAGACAAATTGGCAATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTCCAACCAGTACAAC TTAGGATCTTAAATGTATTTCGGCATTGGGTTGAACATCATTTTTATGACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCT TCATTTCAAGTGTAAGAGGGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAAGCTCAGGCAAACG GAGTAAGCCATAATATTACCTTTGAAAGTCCACCTCCACCAATTGAATGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCA TGACACTTCATCCAATAGAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAGGAAAGTTCAACCGTCTGAACTTGTAGGGA GTGTGTGGACCAAAGAAGATAAAGAAATAAATTCTCCAAATTTATTAAAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAA AGGTCATCACACTGAAACGGTGTTCAACCGGGTTTTGCCAGGGCCTATTGCACCAGAGAGCAGCAAGAAGCGGGCCCGTAGGATGCGACC AGACCTTTCTAAGATGATGGCCCTCATGCAGGGTGGAAGCACTGGGTCTCTATCTCTGCATAACACGTTCCAACACAGCAGTAGTGGCCT ACAGTCTGTGTCATCTTTGGGTCACAGCAGTGCCACTTCTGCATCTTTGCCTTTTATGCCATTTGTGATGGGTGGTGCACCATCATCCCC TCATGTAGACTCCAGCACCATGCTTCATCACCACCACCACCACCCCCACCCCCACCATCACCACCATCACCATCCAGGCTTGAGAGCCCC TGGCTACCCCTCTTCACCAGTGACTACCGCCTCTGGTACTACCTTGCGGTTGCCACCACTGCAACCTGAGGAGGATGACGATGAGGATGA AGAAGATGATGATGACTTATCTCAGGGCTATGATAGCTCAGAAAGGGACTTCTCACTCATTGATGATCCTATGATGCCAGCTAACTCAGA CTCCAGTGAAGATGCTGATGACTGAAGCCCCAGCATGGGCCCCATTGCTTGGGCGGCTGCTGTATTTTCATTTACTCTGGCCCTTGGACT >85267_85267_6_SOS2-CHD8_SOS2_chr14_50612194_ENST00000543680_CHD8_chr14_21854335_ENST00000557364_length(amino acids)=836AA_BP=802 MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQDVEERVQKTFPHPIDKWAIADA QSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDD IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNISDIHELTVKLLGLIEDTVEMTDE SSPHPLAGSCFEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYS PRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSS AEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVY RFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEK GEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFE SPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKVITLKRCS -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for SOS2-CHD8 |
| 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 |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000399982 | 35 | 37 | 1789_2302 | 2394.0 | 2582.0 | FAM124B | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000430710 | 36 | 38 | 1789_2302 | 2115.0 | 2303.0 | FAM124B | |
| Tgene | CHD8 | chr14:50612194 | chr14:21854335 | ENST00000557364 | 36 | 38 | 1789_2302 | 2394.0 | 2582.0 | FAM124B |
| - 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 |
Top |
Related Drugs for SOS2-CHD8 |
| 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 |
Top |
Related Diseases for SOS2-CHD8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SOS2 | C0028326 | Noonan Syndrome | 4 | CLINGEN;GENOMICS_ENGLAND;ORPHANET |
| Hgene | SOS2 | C4225282 | NOONAN SYNDROME 9 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | C1510586 | Autism Spectrum Disorders | 8 | CLINGEN;CTD_human | |
| Tgene | C3554373 | AUTISM, SUSCEPTIBILITY TO, 18 | 3 | GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0004352 | Autistic Disorder | 2 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C0221355 | Macrocephaly | 2 | CTD_human | |
| Tgene | C0017178 | Gastrointestinal Diseases | 1 | CTD_human | |
| Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
| Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
| Tgene | C0282631 | Facies | 1 | CTD_human | |
| Tgene | C0559031 | Functional Gastrointestinal Disorders | 1 | CTD_human | |
| Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
| Tgene | C1565321 | Cholera Infantum | 1 | CTD_human | |
| Tgene | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies