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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:C20orf196-SMCHD1 (FusionGDB2 ID:HG149840TG23347) |
Fusion Gene Summary for C20orf196-SMCHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C20orf196-SMCHD1 | Fusion gene ID: hg149840tg23347 | Hgene | Tgene | Gene symbol | C20orf196 | SMCHD1 | Gene ID | 149840 | 23347 |
| Gene name | shieldin complex subunit 1 | structural maintenance of chromosomes flexible hinge domain containing 1 | |
| Synonyms | C20orf196|RINN3 | BAMS|FSHD2 | |
| Cytomap | ('C20orf196')('SMCHD1') 20p12.3 | 18p11.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | shieldin complex subunit 1RINN1-REV7-interacting novel NHEJ regulator 3shield complex subunit 1uncharacterized protein C20orf196 | structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | . | |
| Ensembl transtripts involved in fusion gene | ENST00000303142, ENST00000378979, | ||
| Fusion gene scores | * DoF score | 6 X 4 X 4=96 | 13 X 12 X 6=936 |
| # samples | 6 | 13 | |
| ** MAII score | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/936*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: C20orf196 [Title/Abstract] AND SMCHD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | C20orf196(5753689)-SMCHD1(2700537), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | C20orf196-SMCHD1 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. C20orf196-SMCHD1 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. C20orf196-SMCHD1 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. C20orf196-SMCHD1 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 |
| Hgene | C20orf196 | GO:0045830 | positive regulation of isotype switching | 29656893 |
| Hgene | C20orf196 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 29656893 |
| Hgene | C20orf196 | GO:2001034 | positive regulation of double-strand break repair via nonhomologous end joining | 29656893 |
| Tgene | SMCHD1 | GO:0009048 | dosage compensation by inactivation of X chromosome | 23542155 |
| Fusion gene breakpoints across C20orf196 (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 SMCHD1 (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 * 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 | STAD | TCGA-D7-8574-01A | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
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Fusion Gene ORF analysis for C20orf196-SMCHD1 |
| 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 | ENST00000303142 | ENST00000609587 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
| 5CDS-intron | ENST00000378979 | ENST00000609587 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
| In-frame | ENST00000303142 | ENST00000261598 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
| In-frame | ENST00000303142 | ENST00000320876 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
| In-frame | ENST00000378979 | ENST00000261598 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
| In-frame | ENST00000378979 | ENST00000320876 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + |
| 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) |
| ENST00000303142 | C20orf196 | chr20 | 5753689 | + | ENST00000320876 | SMCHD1 | chr18 | 2700537 | + | 7406 | 265 | 72 | 4940 | 1622 |
| ENST00000303142 | C20orf196 | chr20 | 5753689 | + | ENST00000261598 | SMCHD1 | chr18 | 2700537 | + | 4677 | 265 | 72 | 4676 | 1534 |
| ENST00000378979 | C20orf196 | chr20 | 5753689 | + | ENST00000320876 | SMCHD1 | chr18 | 2700537 | + | 7410 | 269 | 76 | 4944 | 1622 |
| ENST00000378979 | C20orf196 | chr20 | 5753689 | + | ENST00000261598 | SMCHD1 | chr18 | 2700537 | + | 4681 | 269 | 76 | 4680 | 1535 |
| 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 |
| ENST00000303142 | ENST00000320876 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + | 0.000117795 | 0.9998822 |
| ENST00000303142 | ENST00000261598 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + | 9.74E-05 | 0.9999026 |
| ENST00000378979 | ENST00000320876 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + | 0.000118425 | 0.9998815 |
| ENST00000378979 | ENST00000261598 | C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700537 | + | 9.71E-05 | 0.99990284 |
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Fusion Genomic Features for C20orf196-SMCHD1 |
| 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) |
| C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700536 | + | 4.21E-05 | 0.9999579 |
| C20orf196 | chr20 | 5753689 | + | SMCHD1 | chr18 | 2700536 | + | 4.21E-05 | 0.9999579 |
| 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 C20orf196-SMCHD1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:5753689/chr18:2700537) - 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 |
| . | . |
| 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 |
| Tgene | SMCHD1 | chr20:5753689 | chr18:2700537 | ENST00000261598 | 9 | 46 | 1720_1847 | 447 | 1918.0 | Domain | SMC hinge | |
| Tgene | SMCHD1 | chr20:5753689 | chr18:2700537 | ENST00000320876 | 9 | 48 | 1720_1847 | 447 | 2006.0 | Domain | SMC hinge |
| - 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 | SMCHD1 | chr20:5753689 | chr18:2700537 | ENST00000261598 | 9 | 46 | 111_702 | 447 | 1918.0 | Region | ATPase activity domain | |
| Tgene | SMCHD1 | chr20:5753689 | chr18:2700537 | ENST00000320876 | 9 | 48 | 111_702 | 447 | 2006.0 | Region | ATPase activity domain |
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Fusion Gene Sequence for C20orf196-SMCHD1 |
| 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. |
| >11488_11488_1_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000303142_SMCHD1_chr18_2700537_ENST00000261598_length(transcript)=4677nt_BP=265nt CCGCGTTCCGGTTGCGGATGGTGAGTGTGTCGGGGGGCTTGGCGGCTTTTCTCCTCAGTTTTCTGGAGTGCTTTGGAGGAGAGGACTATG GCAGCCAGGGACGCCACTTCAGGCAGCCTGTCAGAGGAGAGCAGTGCTTTGGACCTGCCATCAGCGTGTGACATAAGAGATTACGTCCTG CAGGGACCCAGCCAAGAAGCCAACAGCGAGGCTTTCAGTTCTTTGGAATTCCATTCTTTTCCTTATTCTTCTGATGTGGATCCAGAATTA AAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGA TTAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATA TCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAAC ACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAG TATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATAT GCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTA AGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGAT GAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTC CCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGA ATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAA GTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATG GAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTA CCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTT CCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGT TTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGC AAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGA CTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAAC ATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGA ACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAA GATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCA ATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGA GAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTT CCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTT ACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGA GAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTT GGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCT GGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTT ATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGG GATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACA GATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAA AGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCA TCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGT ATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAAT GACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGAT AAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACA CCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACT GGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGA ACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATAT TTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAG CAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAG CTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATT CCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCG TGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATG GTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGT CGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTG TATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATG CTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTG CTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATG GTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGTGCATGCCTGTGTTCCCAGCTACTCAGGAGGCTAA >11488_11488_1_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000303142_SMCHD1_chr18_2700537_ENST00000261598_length(amino acids)=1534AA_BP=62 MEERTMAARDATSGSLSEESSALDLPSACDIRDYVLQGPSQEANSEAFSSLEFHSFPYSSDVDPELKDEDDEDDCFILEKAARGKRPIFE CFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWL KDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAME PQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKK LLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDL PFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLL PGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARI EIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEH LLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSS LSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIV QLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNV KYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQ FGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPL FIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSL FEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIE DDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHC ETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIVHACVPS YSGG -------------------------------------------------------------- >11488_11488_2_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000303142_SMCHD1_chr18_2700537_ENST00000320876_length(transcript)=7406nt_BP=265nt CCGCGTTCCGGTTGCGGATGGTGAGTGTGTCGGGGGGCTTGGCGGCTTTTCTCCTCAGTTTTCTGGAGTGCTTTGGAGGAGAGGACTATG GCAGCCAGGGACGCCACTTCAGGCAGCCTGTCAGAGGAGAGCAGTGCTTTGGACCTGCCATCAGCGTGTGACATAAGAGATTACGTCCTG CAGGGACCCAGCCAAGAAGCCAACAGCGAGGCTTTCAGTTCTTTGGAATTCCATTCTTTTCCTTATTCTTCTGATGTGGATCCAGAATTA AAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGA TTAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATA TCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAAC ACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAG TATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATAT GCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTA AGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGAT GAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTC CCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGA ATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAA GTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATG GAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTA CCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTT CCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGT TTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGC AAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGA CTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAAC ATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGA ACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAA GATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCA ATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGA GAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTT CCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTT ACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGA GAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTT GGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCT GGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTT ATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGG GATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACA GATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAA AGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCA TCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGT ATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAAT GACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGAT AAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACA CCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACT GGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGA ACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATAT TTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAG CAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAG CTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATT CCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCG TGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATG GTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGT CGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTG TATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATG CTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTG CTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATG GTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTA GACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAG AAAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACTCCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACG ACAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACA GAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTA TTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACT GGACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATG TGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGT CAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAG GCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATG TTAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGT GTGTGTGTATATATATATATATATATAAATATATATATATAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTAT TAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACA TACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTC TTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTG TTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATT GGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTG TTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAA TGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTA GCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTG AATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGA AAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTT GCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAAT TCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTC CTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGG CGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAA GAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAG TTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTT CATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAG TCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTC ACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCCAAAGGAAAATAATAGCCTACTTGTATTTTGAAGTAACTGAAATAAAA CTCTCTCCAAGCCTTTTTGCACATTA >11488_11488_2_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000303142_SMCHD1_chr18_2700537_ENST00000320876_length(amino acids)=1622AA_BP=62 MEERTMAARDATSGSLSEESSALDLPSACDIRDYVLQGPSQEANSEAFSSLEFHSFPYSSDVDPELKDEDDEDDCFILEKAARGKRPIFE CFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWL KDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAME PQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKK LLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDL PFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLL PGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARI EIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEH LLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSS LSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIV QLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNV KYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQ FGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPL FIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSL FEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIE DDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHC ETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYR SAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRKCNDSLRHSPKVETTDCPVPPKRMRREATRQNRIITKT DV -------------------------------------------------------------- >11488_11488_3_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000378979_SMCHD1_chr18_2700537_ENST00000261598_length(transcript)=4681nt_BP=269nt GCTTCCGCGTTCCGGTTGCGGATGGTGAGTGTGTCGGGGGGCTTGGCGGCTTTTCTCCTCAGTTTTCTGGAGTGCTTTGGAGGAGAGGAC TATGGCAGCCAGGGACGCCACTTCAGGCAGCCTGTCAGAGGAGAGCAGTGCTTTGGACCTGCCATCAGCGTGTGACATAAGAGATTACGT CCTGCAGGGACCCAGCCAAGAAGCCAACAGCGAGGCTTTCAGTTCTTTGGAATTCCATTCTTTTCCTTATTCTTCTGATGTGGATCCAGA ATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGG ACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAG GATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAA GAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGA GAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAAC ATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCAT AGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATA TGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAG GCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTT AAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCT CAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAA AATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACC ACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGG AGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAG TGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCA AGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCG TCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGA CAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTC TGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTG TAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAA GGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGA AAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCT GCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGC GTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCA AGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGG GGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCC TCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCT CCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCA GTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAA AACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAA CAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGA TGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGC ACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGA TAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGAT GGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACC TACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCA TACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGT TAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGA ATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAA GAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCA ACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGA CATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAG ATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGC GATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCA AGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAA ATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGG TATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTAC ACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGG AATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGTGCATGCCTGTGTTCCCAGCTACTCAGGAGGCTA A >11488_11488_3_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000378979_SMCHD1_chr18_2700537_ENST00000261598_length(amino acids)=1535AA_BP=62 MEERTMAARDATSGSLSEESSALDLPSACDIRDYVLQGPSQEANSEAFSSLEFHSFPYSSDVDPELKDEDDEDDCFILEKAARGKRPIFE CFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWL KDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAME PQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKK LLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDL PFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLL PGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARI EIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEH LLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSS LSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIV QLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNV KYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQ FGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPL FIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSL FEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIE DDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHC ETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIVHACVPS YSGGX -------------------------------------------------------------- >11488_11488_4_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000378979_SMCHD1_chr18_2700537_ENST00000320876_length(transcript)=7410nt_BP=269nt GCTTCCGCGTTCCGGTTGCGGATGGTGAGTGTGTCGGGGGGCTTGGCGGCTTTTCTCCTCAGTTTTCTGGAGTGCTTTGGAGGAGAGGAC TATGGCAGCCAGGGACGCCACTTCAGGCAGCCTGTCAGAGGAGAGCAGTGCTTTGGACCTGCCATCAGCGTGTGACATAAGAGATTACGT CCTGCAGGGACCCAGCCAAGAAGCCAACAGCGAGGCTTTCAGTTCTTTGGAATTCCATTCTTTTCCTTATTCTTCTGATGTGGATCCAGA ATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGG ACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAG GATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAA GAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGA GAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAAC ATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCAT AGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATA TGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAG GCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTT AAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCT CAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAA AATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACC ACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGG AGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAG TGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCA AGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCG TCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGA CAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTC TGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTG TAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAA GGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGA AAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCT GCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGC GTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCA AGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGG GGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCC TCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCT CCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCA GTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAA AACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAA CAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGA TGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGC ACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGA TAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGAT GGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACC TACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCA TACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGT TAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGA ATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAA GAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCA ACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGA CATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAG ATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGC GATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCA AGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAA ATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGG TATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTAC ACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGG AATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAA ACTAGACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACA TGAGAAAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACTCCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGA GACGACAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGT GACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTG AGTATTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCT TACTGGACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCT AATGTGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAAC ATGTCAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCT AGAGGCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGA AATGTTAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGT GTGTGTGTGTGTATATATATATATATATATAAATATATATATATAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACT TTATTAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAG AACATACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATA TGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTA TGTGTTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAA AATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTT GTTGTTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTC AAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAA TTTAGCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGT TTTGAATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTAT ATGAAAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTA GTTTGCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAA AAATTCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGA ACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAA ATGGCGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGT AAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAA GGAGTTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGA GGTTCATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATA CTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATT TGTCACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCCAAAGGAAAATAATAGCCTACTTGTATTTTGAAGTAACTGAAAT AAAACTCTCTCCAAGCCTTTTTGCACATTA >11488_11488_4_C20orf196-SMCHD1_C20orf196_chr20_5753689_ENST00000378979_SMCHD1_chr18_2700537_ENST00000320876_length(amino acids)=1622AA_BP=62 MEERTMAARDATSGSLSEESSALDLPSACDIRDYVLQGPSQEANSEAFSSLEFHSFPYSSDVDPELKDEDDEDDCFILEKAARGKRPIFE CFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWL KDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAME PQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKK LLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDL PFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLL PGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARI EIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEH LLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSS LSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIV QLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNV KYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQ FGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPL FIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSL FEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIE DDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHC ETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYR SAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRKCNDSLRHSPKVETTDCPVPPKRMRREATRQNRIITKT DV -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for C20orf196-SMCHD1 |
| 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 C20orf196-SMCHD1 |
| 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 C20orf196-SMCHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C1834671 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | 9 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 3 | GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C1863878 | Arhinia, choanal atresia, and microphthalmia | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
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