|
||||||
|
 | 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:DSCR3-NIPBL (FusionGDB2 ID:HG10311TG25836) |
Fusion Gene Summary for DSCR3-NIPBL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DSCR3-NIPBL | Fusion gene ID: hg10311tg25836 | Hgene | Tgene | Gene symbol | DSCR3 | NIPBL | Gene ID | 10311 | 25836 |
| Gene name | VPS26 endosomal protein sorting factor C | NIPBL cohesin loading factor | |
| Synonyms | DCRA|DSCR3|DSCRA | CDLS|CDLS1|IDN3|IDN3-B|Scc2 | |
| Cytomap | ('DSCR3')('NIPBL') 21q22.13 | 5p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuolar protein sorting-associated protein 26CDSCR3 arrestin fold containingDown syndrome critical region 3Down syndrome critical region gene 3Down syndrome critical region protein 3Down syndrome critical region protein A | nipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homolog | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | . | |
| Ensembl transtripts involved in fusion gene | ENST00000309117, ENST00000398998, ENST00000399001, ENST00000476950, ENST00000539844, ENST00000288304, ENST00000399000, | ||
| Fusion gene scores | * DoF score | 7 X 2 X 5=70 | 8 X 11 X 5=440 |
| # samples | 9 | 9 | |
| ** MAII score | log2(9/70*10)=0.362570079384708 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/440*10)=-2.28950661719499 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DSCR3 [Title/Abstract] AND NIPBL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DSCR3(38639539)-NIPBL(37019413), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | DSCR3-NIPBL 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. DSCR3-NIPBL seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | NIPBL | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353 |
| Tgene | NIPBL | GO:0031065 | positive regulation of histone deacetylation | 18854353 |
| Tgene | NIPBL | GO:0045892 | negative regulation of transcription, DNA-templated | 18854353 |
| Tgene | NIPBL | GO:0071921 | cohesin loading | 22628566 |
| Fusion gene breakpoints across DSCR3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene breakpoints across NIPBL (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene information * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LGG | TCGA-DU-6406-01A | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| ChimerDB4 | LGG | TCGA-DU-6406 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
Top |
Fusion Gene ORF analysis for DSCR3-NIPBL |
| 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 | ENST00000309117 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5CDS-intron | ENST00000398998 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5CDS-intron | ENST00000399001 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5CDS-intron | ENST00000476950 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5CDS-intron | ENST00000539844 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5UTR-3CDS | ENST00000288304 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5UTR-3CDS | ENST00000288304 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5UTR-3CDS | ENST00000399000 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5UTR-3CDS | ENST00000399000 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5UTR-intron | ENST00000288304 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 5UTR-intron | ENST00000399000 | ENST00000504430 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000309117 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000309117 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000398998 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000398998 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000399001 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000399001 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000476950 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000476950 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000539844 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| In-frame | ENST00000539844 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + |
| 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) |
| ENST00000309117 | DSCR3 | chr21 | 38639539 | - | ENST00000282516 | NIPBL | chr5 | 37019413 | + | 5311 | 295 | 190 | 3789 | 1199 |
| ENST00000309117 | DSCR3 | chr21 | 38639539 | - | ENST00000448238 | NIPBL | chr5 | 37019413 | + | 3636 | 295 | 190 | 3468 | 1092 |
| ENST00000539844 | DSCR3 | chr21 | 38639539 | - | ENST00000282516 | NIPBL | chr5 | 37019413 | + | 5101 | 85 | 22 | 3579 | 1185 |
| ENST00000539844 | DSCR3 | chr21 | 38639539 | - | ENST00000448238 | NIPBL | chr5 | 37019413 | + | 3426 | 85 | 22 | 3258 | 1078 |
| ENST00000399001 | DSCR3 | chr21 | 38639539 | - | ENST00000282516 | NIPBL | chr5 | 37019413 | + | 5130 | 114 | 9 | 3608 | 1199 |
| ENST00000399001 | DSCR3 | chr21 | 38639539 | - | ENST00000448238 | NIPBL | chr5 | 37019413 | + | 3455 | 114 | 9 | 3287 | 1092 |
| ENST00000476950 | DSCR3 | chr21 | 38639539 | - | ENST00000282516 | NIPBL | chr5 | 37019413 | + | 5125 | 109 | 4 | 3603 | 1199 |
| ENST00000476950 | DSCR3 | chr21 | 38639539 | - | ENST00000448238 | NIPBL | chr5 | 37019413 | + | 3450 | 109 | 4 | 3282 | 1092 |
| ENST00000398998 | DSCR3 | chr21 | 38639539 | - | ENST00000282516 | NIPBL | chr5 | 37019413 | + | 5311 | 295 | 190 | 3789 | 1199 |
| ENST00000398998 | DSCR3 | chr21 | 38639539 | - | ENST00000448238 | NIPBL | chr5 | 37019413 | + | 3636 | 295 | 190 | 3468 | 1092 |
| 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 |
| ENST00000309117 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000228079 | 0.9997719 |
| ENST00000309117 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000394446 | 0.9996056 |
| ENST00000539844 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000184954 | 0.99981505 |
| ENST00000539844 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000343026 | 0.99965703 |
| ENST00000399001 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000186199 | 0.99981385 |
| ENST00000399001 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000339039 | 0.99966097 |
| ENST00000476950 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000187285 | 0.9998128 |
| ENST00000476950 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000344273 | 0.9996557 |
| ENST00000398998 | ENST00000282516 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000228079 | 0.9997719 |
| ENST00000398998 | ENST00000448238 | DSCR3 | chr21 | 38639539 | - | NIPBL | chr5 | 37019413 | + | 0.000394446 | 0.9996056 |
Top |
Fusion Genomic Features for DSCR3-NIPBL |
| 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) |
| DSCR3 | chr21 | 38639538 | - | NIPBL | chr5 | 37019412 | + | 0.005243608 | 0.99475646 |
| DSCR3 | chr21 | 38639538 | - | NIPBL | chr5 | 37019412 | + | 0.005243608 | 0.99475646 |
| DSCR3 | chr21 | 38639538 | - | NIPBL | chr5 | 37019412 | + | 0.005243608 | 0.99475646 |
| DSCR3 | chr21 | 38639538 | - | NIPBL | chr5 | 37019412 | + | 0.005243608 | 0.99475646 |
| 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. |
 |
| 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. |
 |
Top |
Fusion Protein Features for DSCR3-NIPBL |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr21:38639539/chr5:37019413) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | . |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 1767_1805 | 1640 | 2805.0 | Repeat | Note=HEAT 1 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 1843_1881 | 1640 | 2805.0 | Repeat | Note=HEAT 2 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 1945_1984 | 1640 | 2805.0 | Repeat | Note=HEAT 3 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 2227_2267 | 1640 | 2805.0 | Repeat | Note=HEAT 4 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 2313_2351 | 1640 | 2805.0 | Repeat | Note=HEAT 5 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 1767_1805 | 1640 | 2698.0 | Repeat | Note=HEAT 1 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 1843_1881 | 1640 | 2698.0 | Repeat | Note=HEAT 2 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 1945_1984 | 1640 | 2698.0 | Repeat | Note=HEAT 3 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 2227_2267 | 1640 | 2698.0 | Repeat | Note=HEAT 4 | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 2313_2351 | 1640 | 2698.0 | Repeat | Note=HEAT 5 |
| - 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 | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 418_462 | 1640 | 2805.0 | Compositional bias | Note=Gln-rich | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 418_462 | 1640 | 2698.0 | Compositional bias | Note=Gln-rich | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000282516 | 23 | 47 | 996_1009 | 1640 | 2805.0 | Motif | PxVxL motif | |
| Tgene | NIPBL | chr21:38639539 | chr5:37019413 | ENST00000448238 | 23 | 46 | 996_1009 | 1640 | 2698.0 | Motif | PxVxL motif |
Top |
Fusion Gene Sequence for DSCR3-NIPBL |
| 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. |
| >24212_24212_1_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000309117_NIPBL_chr5_37019413_ENST00000282516_length(transcript)=5311nt_BP=295nt GGGGTGAACCGTGACAGCGCTTCGGCCCGCACTAAGGCCGGCTCTTGTGCCGGAAGGAGGAAGGCGTGGGCATTCGCCCCTCGGAGCTAG GGAGTGTGTGCGACGCCGCTGCGAGGTCACGTGAGCCACTGCCGGCAGAGAGGGAAAGGGGCGGGGCCCAGAACGAAGCGGGGAGGCGCC CCTTGTTTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAG AGCGAATAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAA CACTGAGACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAAT GAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAA CCGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGA TGCTTGCTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGG TGAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATAT GCAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCG ACCTCAGCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCT CAGAGACATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCAT TAAGAAATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAA CATTACCGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTC CTCATATAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTC TGACAATAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAA ACATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGA GCTAGTTGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCAT GACTGTAGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAG ATACTATGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAG ATCCCTTTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAA AGTACTTGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCA GCATCCAAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACA AGTGTTAAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGA AGACTTAAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCA CACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATA TTTAATTGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATT CATTCATATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTT CAGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTC TTTACTCAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGAC ACAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTAT GGTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAA GTCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCC TTTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAG TAAAATTCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACA AACACTGGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAA ACTTCTCATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTC ACTGCTTGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTC AGGGTCATTGAGAAGGTCAAAACGAAATTCAGACTCTACGGAGTTGGCAGCACAGATGAATGAAAGTGTTGACGTCATGGATGTCATCGC TATTTGCTGTCCAAAGTACAAAGATCGACCACAAATTGCAAGAGTAGTGCAGAAAACCAGCAGTGGCTTCAGTGTTCAGTGGATGGCAGG CTCCTACAGTGGCTCCTGGACTGAGGCTAAGCGCCGTGATGGCCGCAAACTGGTGCCTTGGGTAGACACTATTAAAGAGTCAGACATTAT TTACAAAAAAATTGCTCTAACGAGTGCTAATAAGCTGACTAATAAAGTTGTTCAGACTTTACGATCCCTGTATGCCGCCAAGGATGGGAC TTCCAGCTAATGAATTTGTACATGCAGCCAAATTTACAGGAATTTTTTTAAAAGGCAGAAAAACTTGAAATACCAACATTCTGGCAAAAA AAAATCAGTTTTATGAAGAGTAAGTGGAACCTGGGATGCAGGAACAAAAGAAGGAAATGTTGGGCAAACATTTTTGTGGGAGCTCCCTTC GCTGTTGTGCAGCAGAAACAGATTCTCAGTTCATTTTTACTCCCACTGTATTATAGTTTAACAAAAATTGTTTATATCTTGGAAAAAAAA CTTTCTGTTTAAAAAAAATAAACAAGTGAATGTTGGAAATTAGTCTGTTAATGTTCTTAATAAAGTGTTCTTGGAGTTTAACCTAGCAGC GGATGGCTTTCTTTAGCTTAGCCCAGTTTCCAGGGAAGCATTGTTTTTTCCAGGCTGTAAAATGGCAGAATCTCCTGGATATATAATTTA TTCTGTTGAAAAAAAAAAAAGCATGCAGTATCTATGACCTATCTGCAGAAGGAGTTTTTGTAAATGTAGATTTTGATGTATTAGGTCACC CTGAAAACAATACAAGAAAAGGGATCCCCAGGTAATCTGGTGGAGCGAATACTGCAATAAATTTTTTTACTTCTCTTTGTTACTTGTCTG TTTCCATTTGAATTTCTTATTGTAAAAATCTGTTTAAATCCATTTATATTATTTTACAGTCTTTTATGTAAAATTTATTATATCACTGGT TTTCAAAGCAAAACATAAAATATTGTTTATACAGTTTGTATAGGCTGACTTCTGAATAATTGGTATCTATTATTTTCATTCCCATAAGAG GGTGTAAACAATTAACTCCAGGGTTTTATTGTATCCTGCAATATTTAGTATTAACTATATATGATTTAGCACTGTGCCAAACACATTTTC AAGAGTACATTTTGATATAAAAAGAAACTATAGTTTATTCCTTGTATGCTTCAATTTCTTTCTAGTGATGTCATGATGCTGATATTTATT CTTTAAACCTCGGGTAAAGGTAACCTGTTATTTGGAAAACCAGCATTTCTCTTGGTTAAAATGATGTCCGGTTATTTTAGAACTAGAGTT GAGATGAATATGACACTTCATAATTACACTCACTACATTTTTCACAAATTATTTTTTAATGCTGAAAAGAGTAATTTTACTTGTTGAGAT GTTTATTCATTTTCTAATCTATGCTAAAAGCTTTTATCATAAGTCTTGGGAACAGTTGTCATTTACACATTACTTACTGCAGATATCTTG ACTAAATCAGGAGGGAGGTGTTTAATCATTTGATATGTATAGTTGACACTCAGGAATAGTAATGCCTAAAATTTACAGTGGATGAGGTCT GTTTCAAGTTTAATTCTTTTTAAAAATGTTTTACTTATTTTTAAATCACTTTGAAAAAATTGACCTCCAGAATGCTGTTTTATGAAATTG GCAAATAAATGAAGGTATTCAATTTTTGAGGAAGAATGACATTGCCACAAAATACCTTTTTGTGACACCTATTAAACCACTATGAAAATA >24212_24212_1_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000309117_NIPBL_chr5_37019413_ENST00000282516_length(amino acids)=1199AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSL RRSKRNSDSTELAAQMNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKK -------------------------------------------------------------- >24212_24212_2_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000309117_NIPBL_chr5_37019413_ENST00000448238_length(transcript)=3636nt_BP=295nt GGGGTGAACCGTGACAGCGCTTCGGCCCGCACTAAGGCCGGCTCTTGTGCCGGAAGGAGGAAGGCGTGGGCATTCGCCCCTCGGAGCTAG GGAGTGTGTGCGACGCCGCTGCGAGGTCACGTGAGCCACTGCCGGCAGAGAGGGAAAGGGGCGGGGCCCAGAACGAAGCGGGGAGGCGCC CCTTGTTTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAG AGCGAATAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAA CACTGAGACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAAT GAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAA CCGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGA TGCTTGCTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGG TGAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATAT GCAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCG ACCTCAGCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCT CAGAGACATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCAT TAAGAAATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAA CATTACCGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTC CTCATATAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTC TGACAATAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAA ACATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGA GCTAGTTGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCAT GACTGTAGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAG ATACTATGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAG ATCCCTTTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAA AGTACTTGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCA GCATCCAAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACA AGTGTTAAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGA AGACTTAAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCA CACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATA TTTAATTGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATT CATTCATATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTT CAGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTC TTTACTCAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGAC ACAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTAT GGTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAA GTCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCC TTTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAG TAAAATTCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACA AACACTGGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAA ACTTCTCATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTC ACTGCTTGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTC AGGGGTGAGGCGGAGGAGGAGTCAACGTATTTCGCAGCGTATTACGTAAAATGATTTTTATGTGCTTATATATGTCAGTCTATTAAATGT ACACCAAGTAATGTAATACTTAAAAGAGAAAACATTTTGTAGATAGAGATTCTCTACTTACCCGTTTATACATCCTTTTGTAGAAAGTTT >24212_24212_2_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000309117_NIPBL_chr5_37019413_ENST00000448238_length(amino acids)=1092AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGVR -------------------------------------------------------------- >24212_24212_3_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000398998_NIPBL_chr5_37019413_ENST00000282516_length(transcript)=5311nt_BP=295nt GGGGTGAACCGTGACAGCGCTTCGGCCCGCACTAAGGCCGGCTCTTGTGCCGGAAGGAGGAAGGCGTGGGCATTCGCCCCTCGGAGCTAG GGAGTGTGTGCGACGCCGCTGCGAGGTCACGTGAGCCACTGCCGGCAGAGAGGGAAAGGGGCGGGGCCCAGAACGAAGCGGGGAGGCGCC CCTTGTTTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAG AGCGAATAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAA CACTGAGACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAAT GAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAA CCGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGA TGCTTGCTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGG TGAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATAT GCAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCG ACCTCAGCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCT CAGAGACATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCAT TAAGAAATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAA CATTACCGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTC CTCATATAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTC TGACAATAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAA ACATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGA GCTAGTTGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCAT GACTGTAGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAG ATACTATGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAG ATCCCTTTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAA AGTACTTGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCA GCATCCAAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACA AGTGTTAAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGA AGACTTAAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCA CACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATA TTTAATTGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATT CATTCATATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTT CAGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTC TTTACTCAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGAC ACAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTAT GGTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAA GTCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCC TTTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAG TAAAATTCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACA AACACTGGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAA ACTTCTCATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTC ACTGCTTGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTC AGGGTCATTGAGAAGGTCAAAACGAAATTCAGACTCTACGGAGTTGGCAGCACAGATGAATGAAAGTGTTGACGTCATGGATGTCATCGC TATTTGCTGTCCAAAGTACAAAGATCGACCACAAATTGCAAGAGTAGTGCAGAAAACCAGCAGTGGCTTCAGTGTTCAGTGGATGGCAGG CTCCTACAGTGGCTCCTGGACTGAGGCTAAGCGCCGTGATGGCCGCAAACTGGTGCCTTGGGTAGACACTATTAAAGAGTCAGACATTAT TTACAAAAAAATTGCTCTAACGAGTGCTAATAAGCTGACTAATAAAGTTGTTCAGACTTTACGATCCCTGTATGCCGCCAAGGATGGGAC TTCCAGCTAATGAATTTGTACATGCAGCCAAATTTACAGGAATTTTTTTAAAAGGCAGAAAAACTTGAAATACCAACATTCTGGCAAAAA AAAATCAGTTTTATGAAGAGTAAGTGGAACCTGGGATGCAGGAACAAAAGAAGGAAATGTTGGGCAAACATTTTTGTGGGAGCTCCCTTC GCTGTTGTGCAGCAGAAACAGATTCTCAGTTCATTTTTACTCCCACTGTATTATAGTTTAACAAAAATTGTTTATATCTTGGAAAAAAAA CTTTCTGTTTAAAAAAAATAAACAAGTGAATGTTGGAAATTAGTCTGTTAATGTTCTTAATAAAGTGTTCTTGGAGTTTAACCTAGCAGC GGATGGCTTTCTTTAGCTTAGCCCAGTTTCCAGGGAAGCATTGTTTTTTCCAGGCTGTAAAATGGCAGAATCTCCTGGATATATAATTTA TTCTGTTGAAAAAAAAAAAAGCATGCAGTATCTATGACCTATCTGCAGAAGGAGTTTTTGTAAATGTAGATTTTGATGTATTAGGTCACC CTGAAAACAATACAAGAAAAGGGATCCCCAGGTAATCTGGTGGAGCGAATACTGCAATAAATTTTTTTACTTCTCTTTGTTACTTGTCTG TTTCCATTTGAATTTCTTATTGTAAAAATCTGTTTAAATCCATTTATATTATTTTACAGTCTTTTATGTAAAATTTATTATATCACTGGT TTTCAAAGCAAAACATAAAATATTGTTTATACAGTTTGTATAGGCTGACTTCTGAATAATTGGTATCTATTATTTTCATTCCCATAAGAG GGTGTAAACAATTAACTCCAGGGTTTTATTGTATCCTGCAATATTTAGTATTAACTATATATGATTTAGCACTGTGCCAAACACATTTTC AAGAGTACATTTTGATATAAAAAGAAACTATAGTTTATTCCTTGTATGCTTCAATTTCTTTCTAGTGATGTCATGATGCTGATATTTATT CTTTAAACCTCGGGTAAAGGTAACCTGTTATTTGGAAAACCAGCATTTCTCTTGGTTAAAATGATGTCCGGTTATTTTAGAACTAGAGTT GAGATGAATATGACACTTCATAATTACACTCACTACATTTTTCACAAATTATTTTTTAATGCTGAAAAGAGTAATTTTACTTGTTGAGAT GTTTATTCATTTTCTAATCTATGCTAAAAGCTTTTATCATAAGTCTTGGGAACAGTTGTCATTTACACATTACTTACTGCAGATATCTTG ACTAAATCAGGAGGGAGGTGTTTAATCATTTGATATGTATAGTTGACACTCAGGAATAGTAATGCCTAAAATTTACAGTGGATGAGGTCT GTTTCAAGTTTAATTCTTTTTAAAAATGTTTTACTTATTTTTAAATCACTTTGAAAAAATTGACCTCCAGAATGCTGTTTTATGAAATTG GCAAATAAATGAAGGTATTCAATTTTTGAGGAAGAATGACATTGCCACAAAATACCTTTTTGTGACACCTATTAAACCACTATGAAAATA >24212_24212_3_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000398998_NIPBL_chr5_37019413_ENST00000282516_length(amino acids)=1199AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSL RRSKRNSDSTELAAQMNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKK -------------------------------------------------------------- >24212_24212_4_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000398998_NIPBL_chr5_37019413_ENST00000448238_length(transcript)=3636nt_BP=295nt GGGGTGAACCGTGACAGCGCTTCGGCCCGCACTAAGGCCGGCTCTTGTGCCGGAAGGAGGAAGGCGTGGGCATTCGCCCCTCGGAGCTAG GGAGTGTGTGCGACGCCGCTGCGAGGTCACGTGAGCCACTGCCGGCAGAGAGGGAAAGGGGCGGGGCCCAGAACGAAGCGGGGAGGCGCC CCTTGTTTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAG AGCGAATAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAA CACTGAGACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAAT GAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAA CCGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGA TGCTTGCTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGG TGAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATAT GCAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCG ACCTCAGCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCT CAGAGACATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCAT TAAGAAATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAA CATTACCGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTC CTCATATAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTC TGACAATAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAA ACATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGA GCTAGTTGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCAT GACTGTAGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAG ATACTATGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAG ATCCCTTTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAA AGTACTTGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCA GCATCCAAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACA AGTGTTAAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGA AGACTTAAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCA CACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATA TTTAATTGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATT CATTCATATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTT CAGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTC TTTACTCAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGAC ACAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTAT GGTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAA GTCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCC TTTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAG TAAAATTCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACA AACACTGGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAA ACTTCTCATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTC ACTGCTTGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTC AGGGGTGAGGCGGAGGAGGAGTCAACGTATTTCGCAGCGTATTACGTAAAATGATTTTTATGTGCTTATATATGTCAGTCTATTAAATGT ACACCAAGTAATGTAATACTTAAAAGAGAAAACATTTTGTAGATAGAGATTCTCTACTTACCCGTTTATACATCCTTTTGTAGAAAGTTT >24212_24212_4_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000398998_NIPBL_chr5_37019413_ENST00000448238_length(amino acids)=1092AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGVR -------------------------------------------------------------- >24212_24212_5_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000399001_NIPBL_chr5_37019413_ENST00000282516_length(transcript)=5130nt_BP=114nt CTTGTTTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAGA GCGAATAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAAC ACTGAGACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATG AAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAAC CGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGAT GCTTGCTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGGT GAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATATG CAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCGA CCTCAGCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCTC AGAGACATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCATT AAGAAATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAAC ATTACCGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTCC TCATATAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTCT GACAATAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAAA CATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGAG CTAGTTGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCATG ACTGTAGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAGA TACTATGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAGA TCCCTTTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAAA GTACTTGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCAG CATCCAAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACAA GTGTTAAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGAA GACTTAAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCAC ACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATAT TTAATTGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATTC ATTCATATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTTC AGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCT TTACTCAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACA CAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTATG GTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAG TCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCT TTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGT AAAATTCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACAA ACACTGGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAAA CTTCTCATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTCA CTGCTTGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTCA GGGTCATTGAGAAGGTCAAAACGAAATTCAGACTCTACGGAGTTGGCAGCACAGATGAATGAAAGTGTTGACGTCATGGATGTCATCGCT ATTTGCTGTCCAAAGTACAAAGATCGACCACAAATTGCAAGAGTAGTGCAGAAAACCAGCAGTGGCTTCAGTGTTCAGTGGATGGCAGGC TCCTACAGTGGCTCCTGGACTGAGGCTAAGCGCCGTGATGGCCGCAAACTGGTGCCTTGGGTAGACACTATTAAAGAGTCAGACATTATT TACAAAAAAATTGCTCTAACGAGTGCTAATAAGCTGACTAATAAAGTTGTTCAGACTTTACGATCCCTGTATGCCGCCAAGGATGGGACT TCCAGCTAATGAATTTGTACATGCAGCCAAATTTACAGGAATTTTTTTAAAAGGCAGAAAAACTTGAAATACCAACATTCTGGCAAAAAA AAATCAGTTTTATGAAGAGTAAGTGGAACCTGGGATGCAGGAACAAAAGAAGGAAATGTTGGGCAAACATTTTTGTGGGAGCTCCCTTCG CTGTTGTGCAGCAGAAACAGATTCTCAGTTCATTTTTACTCCCACTGTATTATAGTTTAACAAAAATTGTTTATATCTTGGAAAAAAAAC TTTCTGTTTAAAAAAAATAAACAAGTGAATGTTGGAAATTAGTCTGTTAATGTTCTTAATAAAGTGTTCTTGGAGTTTAACCTAGCAGCG GATGGCTTTCTTTAGCTTAGCCCAGTTTCCAGGGAAGCATTGTTTTTTCCAGGCTGTAAAATGGCAGAATCTCCTGGATATATAATTTAT TCTGTTGAAAAAAAAAAAAGCATGCAGTATCTATGACCTATCTGCAGAAGGAGTTTTTGTAAATGTAGATTTTGATGTATTAGGTCACCC TGAAAACAATACAAGAAAAGGGATCCCCAGGTAATCTGGTGGAGCGAATACTGCAATAAATTTTTTTACTTCTCTTTGTTACTTGTCTGT TTCCATTTGAATTTCTTATTGTAAAAATCTGTTTAAATCCATTTATATTATTTTACAGTCTTTTATGTAAAATTTATTATATCACTGGTT TTCAAAGCAAAACATAAAATATTGTTTATACAGTTTGTATAGGCTGACTTCTGAATAATTGGTATCTATTATTTTCATTCCCATAAGAGG GTGTAAACAATTAACTCCAGGGTTTTATTGTATCCTGCAATATTTAGTATTAACTATATATGATTTAGCACTGTGCCAAACACATTTTCA AGAGTACATTTTGATATAAAAAGAAACTATAGTTTATTCCTTGTATGCTTCAATTTCTTTCTAGTGATGTCATGATGCTGATATTTATTC TTTAAACCTCGGGTAAAGGTAACCTGTTATTTGGAAAACCAGCATTTCTCTTGGTTAAAATGATGTCCGGTTATTTTAGAACTAGAGTTG AGATGAATATGACACTTCATAATTACACTCACTACATTTTTCACAAATTATTTTTTAATGCTGAAAAGAGTAATTTTACTTGTTGAGATG TTTATTCATTTTCTAATCTATGCTAAAAGCTTTTATCATAAGTCTTGGGAACAGTTGTCATTTACACATTACTTACTGCAGATATCTTGA CTAAATCAGGAGGGAGGTGTTTAATCATTTGATATGTATAGTTGACACTCAGGAATAGTAATGCCTAAAATTTACAGTGGATGAGGTCTG TTTCAAGTTTAATTCTTTTTAAAAATGTTTTACTTATTTTTAAATCACTTTGAAAAAATTGACCTCCAGAATGCTGTTTTATGAAATTGG CAAATAAATGAAGGTATTCAATTTTTGAGGAAGAATGACATTGCCACAAAATACCTTTTTGTGACACCTATTAAACCACTATGAAAATAA >24212_24212_5_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000399001_NIPBL_chr5_37019413_ENST00000282516_length(amino acids)=1199AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSL RRSKRNSDSTELAAQMNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKK -------------------------------------------------------------- >24212_24212_6_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000399001_NIPBL_chr5_37019413_ENST00000448238_length(transcript)=3455nt_BP=114nt CTTGTTTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAGA GCGAATAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAAC ACTGAGACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATG AAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAAC CGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGAT GCTTGCTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGGT GAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATATG CAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCGA CCTCAGCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCTC AGAGACATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCATT AAGAAATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAAC ATTACCGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTCC TCATATAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTCT GACAATAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAAA CATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGAG CTAGTTGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCATG ACTGTAGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAGA TACTATGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAGA TCCCTTTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAAA GTACTTGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCAG CATCCAAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACAA GTGTTAAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGAA GACTTAAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCAC ACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATAT TTAATTGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATTC ATTCATATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTTC AGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCT TTACTCAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACA CAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTATG GTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAG TCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCT TTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGT AAAATTCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACAA ACACTGGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAAA CTTCTCATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTCA CTGCTTGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTCA GGGGTGAGGCGGAGGAGGAGTCAACGTATTTCGCAGCGTATTACGTAAAATGATTTTTATGTGCTTATATATGTCAGTCTATTAAATGTA CACCAAGTAATGTAATACTTAAAAGAGAAAACATTTTGTAGATAGAGATTCTCTACTTACCCGTTTATACATCCTTTTGTAGAAAGTTTA >24212_24212_6_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000399001_NIPBL_chr5_37019413_ENST00000448238_length(amino acids)=1092AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGVR -------------------------------------------------------------- >24212_24212_7_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000476950_NIPBL_chr5_37019413_ENST00000282516_length(transcript)=5125nt_BP=109nt TTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAGAGCGAA TAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAACACTGA GACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATC ACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAACCGAAA AAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGATGCTTG CTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGGTGAAAA TGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATATGCAACG AGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCGACCTCA GCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCTCAGAGA CATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCATTAAGAA ATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAACATTAC CGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTCCTCATA TAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTCTGACAA TAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAAACATGC AATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGAGCTAGT TGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCATGACTGT AGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAGATACTA TGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAGATCCCT TTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAAAGTACT TGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCAGCATCC AAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACAAGTGTT AAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGAAGACTT AAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCACACCCA GTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATATTTAAT TGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATTCATTCA TATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTTCAGACA AGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCTTTACT CAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACACAGGA AGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTATGGTAAA GGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAGTCACG GAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCTTTAAT CGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGTAAAAT TCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACAAACACT GGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAAACTTCT CATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTCACTGCT TGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTCAGGGTC ATTGAGAAGGTCAAAACGAAATTCAGACTCTACGGAGTTGGCAGCACAGATGAATGAAAGTGTTGACGTCATGGATGTCATCGCTATTTG CTGTCCAAAGTACAAAGATCGACCACAAATTGCAAGAGTAGTGCAGAAAACCAGCAGTGGCTTCAGTGTTCAGTGGATGGCAGGCTCCTA CAGTGGCTCCTGGACTGAGGCTAAGCGCCGTGATGGCCGCAAACTGGTGCCTTGGGTAGACACTATTAAAGAGTCAGACATTATTTACAA AAAAATTGCTCTAACGAGTGCTAATAAGCTGACTAATAAAGTTGTTCAGACTTTACGATCCCTGTATGCCGCCAAGGATGGGACTTCCAG CTAATGAATTTGTACATGCAGCCAAATTTACAGGAATTTTTTTAAAAGGCAGAAAAACTTGAAATACCAACATTCTGGCAAAAAAAAATC AGTTTTATGAAGAGTAAGTGGAACCTGGGATGCAGGAACAAAAGAAGGAAATGTTGGGCAAACATTTTTGTGGGAGCTCCCTTCGCTGTT GTGCAGCAGAAACAGATTCTCAGTTCATTTTTACTCCCACTGTATTATAGTTTAACAAAAATTGTTTATATCTTGGAAAAAAAACTTTCT GTTTAAAAAAAATAAACAAGTGAATGTTGGAAATTAGTCTGTTAATGTTCTTAATAAAGTGTTCTTGGAGTTTAACCTAGCAGCGGATGG CTTTCTTTAGCTTAGCCCAGTTTCCAGGGAAGCATTGTTTTTTCCAGGCTGTAAAATGGCAGAATCTCCTGGATATATAATTTATTCTGT TGAAAAAAAAAAAAGCATGCAGTATCTATGACCTATCTGCAGAAGGAGTTTTTGTAAATGTAGATTTTGATGTATTAGGTCACCCTGAAA ACAATACAAGAAAAGGGATCCCCAGGTAATCTGGTGGAGCGAATACTGCAATAAATTTTTTTACTTCTCTTTGTTACTTGTCTGTTTCCA TTTGAATTTCTTATTGTAAAAATCTGTTTAAATCCATTTATATTATTTTACAGTCTTTTATGTAAAATTTATTATATCACTGGTTTTCAA AGCAAAACATAAAATATTGTTTATACAGTTTGTATAGGCTGACTTCTGAATAATTGGTATCTATTATTTTCATTCCCATAAGAGGGTGTA AACAATTAACTCCAGGGTTTTATTGTATCCTGCAATATTTAGTATTAACTATATATGATTTAGCACTGTGCCAAACACATTTTCAAGAGT ACATTTTGATATAAAAAGAAACTATAGTTTATTCCTTGTATGCTTCAATTTCTTTCTAGTGATGTCATGATGCTGATATTTATTCTTTAA ACCTCGGGTAAAGGTAACCTGTTATTTGGAAAACCAGCATTTCTCTTGGTTAAAATGATGTCCGGTTATTTTAGAACTAGAGTTGAGATG AATATGACACTTCATAATTACACTCACTACATTTTTCACAAATTATTTTTTAATGCTGAAAAGAGTAATTTTACTTGTTGAGATGTTTAT TCATTTTCTAATCTATGCTAAAAGCTTTTATCATAAGTCTTGGGAACAGTTGTCATTTACACATTACTTACTGCAGATATCTTGACTAAA TCAGGAGGGAGGTGTTTAATCATTTGATATGTATAGTTGACACTCAGGAATAGTAATGCCTAAAATTTACAGTGGATGAGGTCTGTTTCA AGTTTAATTCTTTTTAAAAATGTTTTACTTATTTTTAAATCACTTTGAAAAAATTGACCTCCAGAATGCTGTTTTATGAAATTGGCAAAT >24212_24212_7_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000476950_NIPBL_chr5_37019413_ENST00000282516_length(amino acids)=1199AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSL RRSKRNSDSTELAAQMNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKK -------------------------------------------------------------- >24212_24212_8_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000476950_NIPBL_chr5_37019413_ENST00000448238_length(transcript)=3450nt_BP=109nt TTCCCTGGGGTCACGCGCAGCCGGAAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAGAGCGAA TAAAGTTTATCACGCCGGGGTTTCAGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAACACTGA GACTGATCCTTCACTAGTGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATC ACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAACCGAAA AAAGTTTCTTAGAAGCATTATCAAAACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGATGCTTG CTTGATTGTTCGATACTTGGCCTCCATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGGTGAAAA TGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATATGCAACG AGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCGACCTCA GCTTGCTGAACAGTATTATGATATGCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCTCAGAGA CATTTGTATTGAACAACCAACATTTCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCATTAAGAA ATTAGTAAATGAAACATTCCAGAAACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAACATTAC CGATGTGGTTGCAGCATGCAGAGATACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTCCTCATA TAAACCTGTGAAGAAAGCTTGTACTCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTCTGACAA TAAAGGTGTGAATTCTGGAAGATTGGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAAACATGC AATGACTATGCAACCATACCTTACCACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGAGCTAGT TGTACCACTGATGGAGCATCCAAGTGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCATGACTGT AGTGCAACATTGTGTGAGCTGTCTTGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAGATACTA TGGTGCCATTTCAAAATTAAAAAGTCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAGATCCCT TTTCACCGTTGGAGCACTATGTCGGCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAAAGTACT TGAACTATTGATGTATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCAGCATCC AAGTCTAATGTTCGAGCAAGAAGTGAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACAAGTGTT AAAAAACCTCCAGACCTACCTACAAGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGAAGACTT AAAAGAAATGGGTGATGTTTCCTCAGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCACACCCA GTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATATTTAAT TGCTATGGGCACAGACCCAGAACCTGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATTCATTCA TATGAAAGCAGTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTTCAGACA AGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCTTTACT CAACCTCTTTGATGACACAGCAAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACACAGGA AGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTATGGTAAA GGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAGTCACG GAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCTTTAAT CGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGTAAAAT TCAGAAGTACTCTCCATCTGAATCTGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACAAACACT GGACTTCCTGCGGAGTGACATGGCTAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAAACTTCT CATGGAACATCTGGACCCTGATGAAGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTCACTGCT TGGAGGAGGCAGCCCTAAAAATAATACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTCAGGGGT GAGGCGGAGGAGGAGTCAACGTATTTCGCAGCGTATTACGTAAAATGATTTTTATGTGCTTATATATGTCAGTCTATTAAATGTACACCA AGTAATGTAATACTTAAAAGAGAAAACATTTTGTAGATAGAGATTCTCTACTTACCCGTTTATACATCCTTTTGTAGAAAGTTTAACATA >24212_24212_8_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000476950_NIPBL_chr5_37019413_ENST00000448238_length(amino acids)=1092AA_BP=35 MGSRAAGSGGCCGELEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQ KDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENA IAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYK PVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVV PLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLF TVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLK NLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLN LFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRK RVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLD FLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGVR -------------------------------------------------------------- >24212_24212_9_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000539844_NIPBL_chr5_37019413_ENST00000282516_length(transcript)=5101nt_BP=85nt AAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAGAGCGAATAAAGTTTATCACGCCGGGGTTTC AGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAACACTGAGACTGATCCTTCACTAGTGTTTTC TCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGA AGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAACCGAAAAAAGTTTCTTAGAAGCATTATCAA AACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGATGCTTGCTTGATTGTTCGATACTTGGCCTC CATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGGTGAAAATGCAATTGCTGTTCGAACAAAAGC CATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATATGCAACGAGGTGTTCATGGACGATTGATGGA TAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCGACCTCAGCTTGCTGAACAGTATTATGATAT GCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCTCAGAGACATTTGTATTGAACAACCAACATT TCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCATTAAGAAATTAGTAAATGAAACATTCCAGAA ACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAACATTACCGATGTGGTTGCAGCATGCAGAGA TACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTCCTCATATAAACCTGTGAAGAAAGCTTGTAC TCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTCTGACAATAAAGGTGTGAATTCTGGAAGATT GGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAAACATGCAATGACTATGCAACCATACCTTAC CACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGAGCTAGTTGTACCACTGATGGAGCATCCAAG TGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCATGACTGTAGTGCAACATTGTGTGAGCTGTCT TGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAGATACTATGGTGCCATTTCAAAATTAAAAAG TCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAGATCCCTTTTCACCGTTGGAGCACTATGTCG GCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAAAGTACTTGAACTATTGATGTATTTTACAAA ACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCAGCATCCAAGTCTAATGTTCGAGCAAGAAGT GAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACAAGTGTTAAAAAACCTCCAGACCTACCTACA AGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGAAGACTTAAAAGAAATGGGTGATGTTTCCTC AGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCACACCCAGTCAAGTGTACGCCACTTTGCCCT AAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATATTTAATTGCTATGGGCACAGACCCAGAACC TGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATTCATTCATATGAAAGCAGTGGCTGGTATGAA GATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTTCAGACAAGACGAGTCCTCTAGCGCTTTGTG TTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCTTTACTCAACCTCTTTGATGACACAGCAAA AACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACACAGGAAGAGCCGTTGTTTATAATGCATCA TATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTATGGTAAAGGACAAAAGGAAAGAGAGAAAATC ATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAGTCACGGAAACGTGTAGATTCAGATTCAGA TTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCTTTAATCGAATTTGCAAATGTGTCCCAGGG TATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGTAAAATTCAGAAGTACTCTCCATCTGAATC TGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACAAACACTGGACTTCCTGCGGAGTGACATGGC TAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAAACTTCTCATGGAACATCTGGACCCTGATGA AGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTCACTGCTTGGAGGAGGCAGCCCTAAAAATAA TACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTCAGGGTCATTGAGAAGGTCAAAACGAAATTC AGACTCTACGGAGTTGGCAGCACAGATGAATGAAAGTGTTGACGTCATGGATGTCATCGCTATTTGCTGTCCAAAGTACAAAGATCGACC ACAAATTGCAAGAGTAGTGCAGAAAACCAGCAGTGGCTTCAGTGTTCAGTGGATGGCAGGCTCCTACAGTGGCTCCTGGACTGAGGCTAA GCGCCGTGATGGCCGCAAACTGGTGCCTTGGGTAGACACTATTAAAGAGTCAGACATTATTTACAAAAAAATTGCTCTAACGAGTGCTAA TAAGCTGACTAATAAAGTTGTTCAGACTTTACGATCCCTGTATGCCGCCAAGGATGGGACTTCCAGCTAATGAATTTGTACATGCAGCCA AATTTACAGGAATTTTTTTAAAAGGCAGAAAAACTTGAAATACCAACATTCTGGCAAAAAAAAATCAGTTTTATGAAGAGTAAGTGGAAC CTGGGATGCAGGAACAAAAGAAGGAAATGTTGGGCAAACATTTTTGTGGGAGCTCCCTTCGCTGTTGTGCAGCAGAAACAGATTCTCAGT TCATTTTTACTCCCACTGTATTATAGTTTAACAAAAATTGTTTATATCTTGGAAAAAAAACTTTCTGTTTAAAAAAAATAAACAAGTGAA TGTTGGAAATTAGTCTGTTAATGTTCTTAATAAAGTGTTCTTGGAGTTTAACCTAGCAGCGGATGGCTTTCTTTAGCTTAGCCCAGTTTC CAGGGAAGCATTGTTTTTTCCAGGCTGTAAAATGGCAGAATCTCCTGGATATATAATTTATTCTGTTGAAAAAAAAAAAAGCATGCAGTA TCTATGACCTATCTGCAGAAGGAGTTTTTGTAAATGTAGATTTTGATGTATTAGGTCACCCTGAAAACAATACAAGAAAAGGGATCCCCA GGTAATCTGGTGGAGCGAATACTGCAATAAATTTTTTTACTTCTCTTTGTTACTTGTCTGTTTCCATTTGAATTTCTTATTGTAAAAATC TGTTTAAATCCATTTATATTATTTTACAGTCTTTTATGTAAAATTTATTATATCACTGGTTTTCAAAGCAAAACATAAAATATTGTTTAT ACAGTTTGTATAGGCTGACTTCTGAATAATTGGTATCTATTATTTTCATTCCCATAAGAGGGTGTAAACAATTAACTCCAGGGTTTTATT GTATCCTGCAATATTTAGTATTAACTATATATGATTTAGCACTGTGCCAAACACATTTTCAAGAGTACATTTTGATATAAAAAGAAACTA TAGTTTATTCCTTGTATGCTTCAATTTCTTTCTAGTGATGTCATGATGCTGATATTTATTCTTTAAACCTCGGGTAAAGGTAACCTGTTA TTTGGAAAACCAGCATTTCTCTTGGTTAAAATGATGTCCGGTTATTTTAGAACTAGAGTTGAGATGAATATGACACTTCATAATTACACT CACTACATTTTTCACAAATTATTTTTTAATGCTGAAAAGAGTAATTTTACTTGTTGAGATGTTTATTCATTTTCTAATCTATGCTAAAAG CTTTTATCATAAGTCTTGGGAACAGTTGTCATTTACACATTACTTACTGCAGATATCTTGACTAAATCAGGAGGGAGGTGTTTAATCATT TGATATGTATAGTTGACACTCAGGAATAGTAATGCCTAAAATTTACAGTGGATGAGGTCTGTTTCAAGTTTAATTCTTTTTAAAAATGTT TTACTTATTTTTAAATCACTTTGAAAAAATTGACCTCCAGAATGCTGTTTTATGAAATTGGCAAATAAATGAAGGTATTCAATTTTTGAG >24212_24212_9_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000539844_NIPBL_chr5_37019413_ENST00000282516_length(amino acids)=1185AA_BP=21 MEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQKDEESSEGTHHAKE IETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEV VAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMC VKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYKPVKKACTQLVDNLV EHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVVPLMEHPSETFLATI EEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLE DFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTYLQEEDTRMQ QADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKAD QQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLNLFDDTAKTDVTMLL YIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDI NSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLDFLRSDMANSKITEE VKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAA QMNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKKIALTSANKLTNKVV -------------------------------------------------------------- >24212_24212_10_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000539844_NIPBL_chr5_37019413_ENST00000448238_length(transcript)=3426nt_BP=85nt AAGTGGCGGCTGCTGCGGAGAATTGGAGATGGGGACCGCCCTGGACATCAAGATTAAAAGAGCGAATAAAGTTTATCACGCCGGGGTTTC AGGAGGGGAAGATGAAATCCAACAATTACAAAAAGCATTGCTTGATTACTTGGATGAAAACACTGAGACTGATCCTTCACTAGTGTTTTC TCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGA AGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAACCGAAAAAAGTTTCTTAGAAGCATTATCAA AACCACACCTTCTCAGTTTAGCACATTAAAGATGAACTCTGATACTGTGGACTATGATGATGCTTGCTTGATTGTTCGATACTTGGCCTC CATGAGGCCGTTTGCCCAGAGCTTTGATATTTATTTGACACAGATCCTACGAGTTCTTGGTGAAAATGCAATTGCTGTTCGAACAAAAGC CATGAAGTGTTTGTCTGAGGTTGTTGCTGTAGACCCCAGTATTCTAGCAAGGCTTGATATGCAACGAGGTGTTCATGGACGATTGATGGA TAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATTTGTCCTTTGTCGACCTCAGCTTGCTGAACAGTATTATGATAT GCTGATTGAAAGAATATTGGATACTGGTATCAGTGTCAGGAAAAGAGTAATAAAGATTCTCAGAGACATTTGTATTGAACAACCAACATT TCCAAAAATCACAGAAATGTGTGTAAAAATGATTCGCAGAGTCAATGATGAAGAGGGCATTAAGAAATTAGTAAATGAAACATTCCAGAA ACTCTGGTTTACTCCAACTCCACACAATGACAAAGAAGCAATGACAAGGAAAATTTTAAACATTACCGATGTGGTTGCAGCATGCAGAGA TACTGGATATGACTGGTTTGAGCAACTGCTTCAAAACTTGTTGAAGTCCGAAGAGGATTCCTCATATAAACCTGTGAAGAAAGCTTGTAC TCAACTTGTTGATAACCTAGTTGAGCACATTCTTAAATATGAGGAATCTCTAGCTGACTCTGACAATAAAGGTGTGAATTCTGGAAGATT GGTAGCTTGCATAACCACTTTGTTCTTATTCAGCAAAATAAGACCCCAGCTCATGGTTAAACATGCAATGACTATGCAACCATACCTTAC CACTAAATGTAGTACGCAAAATGATTTCATGGTTATCTGCAATGTTGCAAAAATCCTAGAGCTAGTTGTACCACTGATGGAGCATCCAAG TGAAACTTTTCTTGCCACTATTGAGGAAGATCTAATGAAGCTCATCATCAAATATGGCATGACTGTAGTGCAACATTGTGTGAGCTGTCT TGGAGCTGTTGTAAATAAAGTGACACAAAATTTTAAATTTGTGTGGGCTTGTTTCAATAGATACTATGGTGCCATTTCAAAATTAAAAAG TCAACACCAAGAGGACCCAAATAACACTTCACTTCTAACAAACAAACCAGCACTTCTTAGATCCCTTTTCACCGTTGGAGCACTATGTCG GCATTTTGATTTTGATCTGGAAGATTTTAAAGGCAACAGCAAGGTTAACATAAAAGATAAAGTACTTGAACTATTGATGTATTTTACAAA ACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGATTTGCCTTTATTCAGCATCCAAGTCTAATGTTCGAGCAAGAAGT GAAGAATCTATATAATAATATTTTATCTGATAAGAACTCCTCAGTCAATTTAAAAATACAAGTGTTAAAAAACCTCCAGACCTACCTACA AGAAGAAGATACACGTATGCAGCAGGCAGATAGAGACTGGAAGAAAGTTGCAAAACAGGAAGACTTAAAAGAAATGGGTGATGTTTCCTC AGGGATGAGTAGTTCCATCATGCAGCTTTATCTCAAACAGGTGCTTGAGGCATTTTTTCACACCCAGTCAAGTGTACGCCACTTTGCCCT AAATGTCATTGCATTGACTCTAAATCAAGGTCTTATTCATCCAGTTCAGTGTGTGCCATATTTAATTGCTATGGGCACAGACCCAGAACC TGCTATGCGGAACAAGGCTGATCAGCAACTTGTGGAAATAGACAAAAAATATGCTGGATTCATTCATATGAAAGCAGTGGCTGGTATGAA GATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATCCTGTAAGGGGTTTCAGACAAGACGAGTCCTCTAGCGCTTTGTG TTCACACCTTTACTCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCTTTACTCAACCTCTTTGATGACACAGCAAA AACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACACAGGAAGAGCCGTTGTTTATAATGCATCA TATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGTCTATGGTAAAGGACAAAAGGAAAGAGAGAAAATC ATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAGTCACGGAAACGTGTAGATTCAGATTCAGA TTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCTTTAATCGAATTTGCAAATGTGTCCCAGGG TATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGTAAAATTCAGAAGTACTCTCCATCTGAATC TGCAAAAGTATATGATAAAGCGATAAACCGAAAAACAGGAGTTCATTTTCATCCAAAACAAACACTGGACTTCCTGCGGAGTGACATGGC TAATTCCAAAATCACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATTTCAAACTTCTCATGGAACATCTGGACCCTGATGA AGAAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAACAAAGCAATTACCTCACTGCTTGGAGGAGGCAGCCCTAAAAATAA TACAGCAGCAGAGACAGAAGATGATGAAAGTGATGGGGAGGATAGAGGAGGAGGCACTTCAGGGGTGAGGCGGAGGAGGAGTCAACGTAT TTCGCAGCGTATTACGTAAAATGATTTTTATGTGCTTATATATGTCAGTCTATTAAATGTACACCAAGTAATGTAATACTTAAAAGAGAA AACATTTTGTAGATAGAGATTCTCTACTTACCCGTTTATACATCCTTTTGTAGAAAGTTTAACATAAAAGACAATAAAAAAACAGAAATG >24212_24212_10_DSCR3-NIPBL_DSCR3_chr21_38639539_ENST00000539844_NIPBL_chr5_37019413_ENST00000448238_length(amino acids)=1078AA_BP=21 MEMGTALDIKIKRANKVYHAGVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQKDEESSEGTHHAKE IETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEV VAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMC VKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYKPVKKACTQLVDNLV EHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVVPLMEHPSETFLATI EEDLMKLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLE DFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTYLQEEDTRMQ QADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKAD QQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLNLFDDTAKTDVTMLL YIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDI NSVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLDFLRSDMANSKITEE -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for DSCR3-NIPBL |
| 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 |
Top |
Related Drugs for DSCR3-NIPBL |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for DSCR3-NIPBL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C4551851 | Cornelia de Lange Syndrome 1 | 16 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0270972 | Cornelia De Lange Syndrome | 8 | CLINGEN;CTD_human | |
| Tgene | C1802395 | Congenital muscular hypertrophy-cerebral syndrome | 3 | CTD_human | |
| Tgene | C1853099 | Cornelia de Lange Syndrome 3 | 3 | CTD_human | |
| Tgene | C0005941 | Bone Diseases, Developmental | 1 | CTD_human | |
| Tgene | C0018798 | Congenital Heart Defects | 1 | CTD_human | |
| Tgene | C0155536 | Paracousis | 1 | CTD_human | |
| Tgene | C0260662 | Hearing problem | 1 | CTD_human | |
| Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
| Tgene | C0877848 | Distorted hearing | 1 | CTD_human | |
| Tgene | C1510450 | Dysacusis | 1 | CTD_human | |
| Tgene | C2750805 | Chromosome 5p13 Duplication Syndrome | 1 | ORPHANET |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies