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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:DIS3L-SMCHD1 (FusionGDB2 ID:HG115752TG23347) |
Fusion Gene Summary for DIS3L-SMCHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DIS3L-SMCHD1 | Fusion gene ID: hg115752tg23347 | Hgene | Tgene | Gene symbol | DIS3L | SMCHD1 | Gene ID | 115752 | 23347 |
| Gene name | DIS3 like exosome 3'-5' exoribonuclease | structural maintenance of chromosomes flexible hinge domain containing 1 | |
| Synonyms | DIS3L1 | BAMS|FSHD2 | |
| Cytomap | ('DIS3L')('SMCHD1') 15q22.31 | 18p11.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DIS3-like exonuclease 1DIS3 mitotic control homolog-like | structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8TF46 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000568874, ENST00000319194, ENST00000319212, ENST00000441424, | ||
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 13 X 12 X 6=936 |
| # samples | 7 | 13 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 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: DIS3L [Title/Abstract] AND SMCHD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DIS3L(66621737)-SMCHD1(2694525), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | DIS3L-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. DIS3L-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. DIS3L-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. DIS3L-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 | DIS3L | GO:0016075 | rRNA catabolic process | 20531389 |
| Tgene | SMCHD1 | GO:0009048 | dosage compensation by inactivation of X chromosome | 23542155 |
| Fusion gene breakpoints across DIS3L (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 | BRCA | TCGA-A8-A081-01A | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
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Fusion Gene ORF analysis for DIS3L-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 |
| 3UTR-3CDS | ENST00000568874 | ENST00000261598 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| 3UTR-3CDS | ENST00000568874 | ENST00000320876 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| 3UTR-intron | ENST00000568874 | ENST00000609587 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| 5CDS-intron | ENST00000319194 | ENST00000609587 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| 5CDS-intron | ENST00000319212 | ENST00000609587 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| In-frame | ENST00000319194 | ENST00000261598 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| In-frame | ENST00000319194 | ENST00000320876 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| In-frame | ENST00000319212 | ENST00000261598 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| In-frame | ENST00000319212 | ENST00000320876 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| intron-3CDS | ENST00000441424 | ENST00000261598 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| intron-3CDS | ENST00000441424 | ENST00000320876 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| intron-intron | ENST00000441424 | ENST00000609587 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + |
| 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) |
| ENST00000319194 | DIS3L | chr15 | 66621737 | + | ENST00000320876 | SMCHD1 | chr18 | 2694525 | + | 10157 | 2547 | 162 | 7691 | 2509 |
| ENST00000319194 | DIS3L | chr15 | 66621737 | + | ENST00000261598 | SMCHD1 | chr18 | 2694525 | + | 7428 | 2547 | 162 | 7427 | 2421 |
| ENST00000319212 | DIS3L | chr15 | 66621737 | + | ENST00000320876 | SMCHD1 | chr18 | 2694525 | + | 10195 | 2585 | 50 | 7729 | 2559 |
| ENST00000319212 | DIS3L | chr15 | 66621737 | + | ENST00000261598 | SMCHD1 | chr18 | 2694525 | + | 7466 | 2585 | 50 | 7465 | 2472 |
| 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 |
| ENST00000319194 | ENST00000320876 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + | 0.000181914 | 0.99981815 |
| ENST00000319194 | ENST00000261598 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + | 0.0001855 | 0.99981457 |
| ENST00000319212 | ENST00000320876 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + | 0.000153209 | 0.9998468 |
| ENST00000319212 | ENST00000261598 | DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694525 | + | 0.000174945 | 0.99982506 |
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Fusion Genomic Features for DIS3L-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) |
| DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694524 | + | 1.55E-05 | 0.9999845 |
| DIS3L | chr15 | 66621737 | + | SMCHD1 | chr18 | 2694524 | + | 1.55E-05 | 0.9999845 |
| 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 DIS3L-SMCHD1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:66621737/chr18:2694525) - 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 |
| DIS3L | . |
| FUNCTION: Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. {ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389}. | 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 | chr15:66621737 | chr18:2694525 | ENST00000261598 | 6 | 46 | 1720_1847 | 291 | 1918.0 | Domain | SMC hinge | |
| Tgene | SMCHD1 | chr15:66621737 | chr18:2694525 | ENST00000320876 | 6 | 48 | 1720_1847 | 291 | 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 | chr15:66621737 | chr18:2694525 | ENST00000261598 | 6 | 46 | 111_702 | 291 | 1918.0 | Region | ATPase activity domain | |
| Tgene | SMCHD1 | chr15:66621737 | chr18:2694525 | ENST00000320876 | 6 | 48 | 111_702 | 291 | 2006.0 | Region | ATPase activity domain |
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Fusion Gene Sequence for DIS3L-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. |
| >22931_22931_1_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000261598_length(transcript)=7428nt_BP=2547nt ATTAATTACCCGGTATTAGTATTAATACGGCGGCTCCATTCCCACATGGACCTGGGGGGGACAAACAAAGTCTCCTAATCTTGGACAGCT GCGCCCAGCCCTTCTTCACCTGCCGTCCAGGTATCATCCTAGTCTTCCCTCCGTCTCTGGGATGGGAAACTCTTGTCTAGTGATGTGACT CATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTGAGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACA GCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGCGAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTC TTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGTCCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCA GCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGACAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAA ACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGCCTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATC CTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGGAGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCT GGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACAGAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCC AGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGGCTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTG GAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGAATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGT GAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGGATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAA TCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAATTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACC CTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTGTGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGA ATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTTCAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATG CCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAAAACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGC ATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCTTAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCA GATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAACAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTAT GACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCGTTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGAT AAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGATCAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTA CTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGGATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTG TGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAGACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTT TGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGCCCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATC CTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGGCCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTC TTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACACGGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCG AACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGCAGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCC TGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCCACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTA GTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTAAGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTA TGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAG GAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGG ACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAAC AATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTG TATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTC TTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAG AAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGT ACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGC ACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGA ATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTA ATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGA CAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATAT GCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACA GTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAA TTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAG CTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATT TCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTA CAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAG CCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGT CATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAAT TGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAA GAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAA AATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTT TCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAAT ATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCC AGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCG GGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAA GTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGC TATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAA TGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAG ATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAA AACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCT GACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATT AATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTT ACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTT TTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTT CCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATT AGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAAC CGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTA ATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAA GTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACC TTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAA GGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATC ATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGA ACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAA TTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGA TTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTG AAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTT TTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTA GTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAG ACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGAC TTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCG GCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAG TTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTA >22931_22931_1_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000261598_length(amino acids)=2421AA_BP=795 MSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQAVQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQT RSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGVFVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLP LEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKDSDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKA SGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGKNAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHF VRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNTPESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLE LGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLPSVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFY EAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIGKLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHET VAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSELRECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNAL YFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRLLMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFL HHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQ DDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSV EDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKF TLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPI AKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSS GNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLE FQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDS EILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEK TIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPT SVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNL KTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQ HVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGL FTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNS EQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFV NGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKC QVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLA SDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTII -------------------------------------------------------------- >22931_22931_2_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000320876_length(transcript)=10157nt_BP=2547nt ATTAATTACCCGGTATTAGTATTAATACGGCGGCTCCATTCCCACATGGACCTGGGGGGGACAAACAAAGTCTCCTAATCTTGGACAGCT GCGCCCAGCCCTTCTTCACCTGCCGTCCAGGTATCATCCTAGTCTTCCCTCCGTCTCTGGGATGGGAAACTCTTGTCTAGTGATGTGACT CATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTGAGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACA GCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGCGAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTC TTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGTCCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCA GCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGACAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAA ACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGCCTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATC CTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGGAGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCT GGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACAGAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCC AGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGGCTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTG GAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGAATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGT GAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGGATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAA TCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAATTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACC CTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTGTGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGA ATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTTCAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATG CCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAAAACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGC ATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCTTAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCA GATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAACAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTAT GACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCGTTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGAT AAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGATCAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTA CTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGGATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTG TGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAGACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTT TGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGCCCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATC CTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGGCCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTC TTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACACGGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCG AACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGCAGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCC TGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCCACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTA GTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTAAGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTA TGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAG GAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGG ACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAAC AATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTG TATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTC TTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAG AAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGT ACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGC ACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGA ATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTA ATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGA CAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATAT GCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACA GTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAA TTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAG CTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATT TCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTA CAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAG CCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGT CATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAAT TGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAA GAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAA AATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTT TCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAAT ATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCC AGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCG GGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAA GTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGC TATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAA TGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAG ATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAA AACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCT GACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATT AATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTT ACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTT TTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTT CCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATT AGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAAC CGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTA ATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAA GTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACC TTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAA GGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATC ATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGA ACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAA TTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGA TTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTG AAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTT TTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTA GTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAG ACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGAC TTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCG GCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAG TTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTA GGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAGACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTAC CTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAGAAAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACT CCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGACAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAA GCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCT TTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTATTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCA TTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTGGACATTATGGATTTACTGGAATTATTCCAGACATTATG CCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGTGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAAT CCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTCAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGT GAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGGCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATG CAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGTTAAGATACCCAGAACAACATTAAATCAATGAGTGAACT TGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTGTGTGTGTATATATATATATATATATAAATATATATATA TAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATTAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATT TACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACATACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGC TGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTT TGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGTTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAAT AAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGAT GATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGTTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGT GGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGT GGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAGCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAA TGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGAATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGG GATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAAAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAAT GACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTGCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTT AAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATTCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTT TCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTA GCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGCGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCT GTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTT TTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGTTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATAT TTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTCATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTA ATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTA ATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTC >22931_22931_2_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000320876_length(amino acids)=2509AA_BP=795 MSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQAVQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQT RSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGVFVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLP LEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKDSDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKA SGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGKNAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHF VRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNTPESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLE LGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLPSVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFY EAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIGKLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHET VAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSELRECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNAL YFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRLLMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFL HHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQ DDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSV EDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKF TLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPI AKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSS GNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLE FQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDS EILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEK TIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPT SVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNL KTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQ HVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGL FTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNS EQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFV NGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKC QVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLA SDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTII LDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDL -------------------------------------------------------------- >22931_22931_3_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000261598_length(transcript)=7466nt_BP=2585nt CTTGCCTCCGCCGCGCCCGCCACTCCGCGGCCGCCGGGAGACACGCCGCCATGCTGCAGAAGCGGGAGAAGGTGCTGCTGCTGAGGACCT TCCAGGGCCGCACGCTGCGGATCGTGCGCGAGCACTACCTGCGGCCCTGCGTGCCCTGCCACAGCCCGCTCTGCCCGCAGCCCGCCGCCT GCAGCCACGATGGGAAACTCTTGTCTAGTGATGTGACTCATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTG AGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACAGCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGC GAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTCTTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGT CCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCAGCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGA CAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAAACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGC CTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATCCTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGG AGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCTGGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACA GAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCCAGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGG CTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTGGAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGA ATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGTGAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGG ATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAATCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAA TTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACCCTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTG TGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGAATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTT CAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATGCCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAA AACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGCATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCT TAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCAGATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAA CAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTATGACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCG TTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGATAAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGAT CAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTACTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGG ATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTGTGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAG ACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTTTGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGC CCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATCCTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGG CCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTCTTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACAC GGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCGAACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGC AGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCCTGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCC ACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTAGTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTA AGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTATGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAA ATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAG AACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAA ATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTG TCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAG ATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAA AAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGAT TAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATAT CTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACA CCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGT ATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATG CAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAA GATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATG AAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCC CTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAA TTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAG TTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGG AAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTAC CATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTC CATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTT TATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCA AGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGAC TGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACA TAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAA CCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAG ATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAA TTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAG AAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTC CTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTA CAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAG AAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTG GACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTG GAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTA TAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGG ATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAG ATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAA GTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCAT CCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTA TTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATG ACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATA AAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACAC CAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTG GAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAA CACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATT TTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGC AGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGC TTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTC CTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGT GTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGG TTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTC GTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGT ATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGC TGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGC TGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGG >22931_22931_3_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000261598_length(amino acids)=2472AA_BP=845 MLQKREKVLLLRTFQGRTLRIVREHYLRPCVPCHSPLCPQPAACSHDGKLLSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQA VQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQTRSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGV FVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLPLEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKD SDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKASGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGK NAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHFVRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNT PESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLELGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLP SVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFYEAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIG KLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHETVAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSEL RECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNALYFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRL LMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQL AHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDR ETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKL TFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVK TIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPN EVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVL NESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIR GVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAP NLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIM HNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMK GGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIR VQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPR GEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPA NAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRD LHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEP YILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKL SEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPD WKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGL -------------------------------------------------------------- >22931_22931_4_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000320876_length(transcript)=10195nt_BP=2585nt CTTGCCTCCGCCGCGCCCGCCACTCCGCGGCCGCCGGGAGACACGCCGCCATGCTGCAGAAGCGGGAGAAGGTGCTGCTGCTGAGGACCT TCCAGGGCCGCACGCTGCGGATCGTGCGCGAGCACTACCTGCGGCCCTGCGTGCCCTGCCACAGCCCGCTCTGCCCGCAGCCCGCCGCCT GCAGCCACGATGGGAAACTCTTGTCTAGTGATGTGACTCATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTG AGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACAGCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGC GAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTCTTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGT CCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCAGCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGA CAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAAACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGC CTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATCCTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGG AGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCTGGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACA GAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCCAGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGG CTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTGGAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGA ATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGTGAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGG ATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAATCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAA TTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACCCTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTG TGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGAATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTT CAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATGCCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAA AACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGCATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCT TAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCAGATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAA CAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTATGACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCG TTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGATAAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGAT CAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTACTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGG ATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTGTGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAG ACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTTTGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGC CCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATCCTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGG CCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTCTTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACAC GGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCGAACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGC AGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCCTGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCC ACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTAGTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTA AGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTATGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAA ATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAG AACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAA ATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTG TCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAG ATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAA AAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGAT TAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATAT CTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACA CCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGT ATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATG CAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAA GATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATG AAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCC CTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAA TTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAG TTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGG AAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTAC CATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTC CATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTT TATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCA AGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGAC TGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACA TAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAA CCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAG ATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAA TTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAG AAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTC CTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTA CAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAG AAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTG GACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTG GAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTA TAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGG ATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAG ATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAA GTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCAT CCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTA TTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATG ACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATA AAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACAC CAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTG GAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAA CACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATT TTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGC AGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGC TTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTC CTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGT GTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGG TTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTC GTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGT ATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGC TGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGC TGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGG TATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAG ACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAGA AAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACTCCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGA CAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACAG AGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTAT TTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTG GACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGT GGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTC AGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGG CTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGT TAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTG TGTGTGTATATATATATATATATATAAATATATATATATAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATT AATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACAT ACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCT TTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGT TTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTG GAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGT TACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAAT GGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAG CATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGA ATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAA AATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTG CTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATT CTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCC TGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGC GAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAG AAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGT TTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTC ATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGT CTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCA CAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCCAAAGGAAAATAATAGCCTACTTGTATTTTGAAGTAACTGAAATAAAAC >22931_22931_4_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000320876_length(amino acids)=2559AA_BP=845 MLQKREKVLLLRTFQGRTLRIVREHYLRPCVPCHSPLCPQPAACSHDGKLLSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQA VQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQTRSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGV FVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLPLEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKD SDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKASGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGK NAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHFVRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNT PESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLELGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLP SVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFYEAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIG KLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHETVAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSEL RECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNALYFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRL LMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQL AHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDR ETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKL TFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVK TIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPN EVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVL NESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIR GVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAP NLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIM HNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMK GGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIR VQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPR GEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPA NAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRD LHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEP YILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKL SEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPD WKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGL QNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRK -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for DIS3L-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 DIS3L-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 DIS3L-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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