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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:ANKRD12-SMCHD1 (FusionGDB2 ID:HG23253TG23347) |
Fusion Gene Summary for ANKRD12-SMCHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANKRD12-SMCHD1 | Fusion gene ID: hg23253tg23347 | Hgene | Tgene | Gene symbol | ANKRD12 | SMCHD1 | Gene ID | 23253 | 23347 |
| Gene name | ankyrin repeat domain 12 | structural maintenance of chromosomes flexible hinge domain containing 1 | |
| Synonyms | ANCO-2|ANCO1|GAC-1|Nbla00144 | BAMS|FSHD2 | |
| Cytomap | ('ANKRD12')('SMCHD1') 18p11.22 | 18p11.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ankyrin repeat domain-containing protein 12ankyrin repeat-containing cofactor 2 | structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | . | |
| Ensembl transtripts involved in fusion gene | ENST00000540578, ENST00000262126, ENST00000383440, ENST00000400020, | ||
| Fusion gene scores | * DoF score | 17 X 12 X 9=1836 | 13 X 12 X 6=936 |
| # samples | 21 | 13 | |
| ** MAII score | log2(21/1836*10)=-3.12810482574769 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: ANKRD12 [Title/Abstract] AND SMCHD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ANKRD12(9182518)-SMCHD1(2703688), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ANKRD12-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. ANKRD12-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. ANKRD12-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. ANKRD12-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 |
| Tgene | SMCHD1 | GO:0009048 | dosage compensation by inactivation of X chromosome | 23542155 |
| Fusion gene breakpoints across ANKRD12 (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 |
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Fusion Gene ORF analysis for ANKRD12-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 |
| 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) |
| 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 |
| ENST00000383440 | ENST00000320876 | ANKRD12 | chr18 | 9182518 | + | SMCHD1 | chr18 | 2703688 | + | 0.000143785 | 0.99985623 |
| ENST00000383440 | ENST00000261598 | ANKRD12 | chr18 | 9182518 | + | SMCHD1 | chr18 | 2703688 | + | 0.000138837 | 0.9998611 |
| ENST00000262126 | ENST00000320876 | ANKRD12 | chr18 | 9182518 | + | SMCHD1 | chr18 | 2703688 | + | 0.000141638 | 0.9998584 |
| ENST00000262126 | ENST00000261598 | ANKRD12 | chr18 | 9182518 | + | SMCHD1 | chr18 | 2703688 | + | 0.000134008 | 0.999866 |
| ENST00000400020 | ENST00000320876 | ANKRD12 | chr18 | 9182518 | + | SMCHD1 | chr18 | 2703688 | + | 0.000160844 | 0.9998392 |
| ENST00000400020 | ENST00000261598 | ANKRD12 | chr18 | 9182518 | + | SMCHD1 | chr18 | 2703688 | + | 0.000121141 | 0.9998789 |
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Fusion Genomic Features for ANKRD12-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) |
| ANKRD12 | chr18 | 9182517 | + | SMCHD1 | chr18 | 2703689 | + | 0.00071477 | 0.9992853 |
| ANKRD12 | chr18 | 9182517 | + | SMCHD1 | chr18 | 2703689 | + | 0.00071477 | 0.9992853 |
| 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 ANKRD12-SMCHD1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr18:9182518/chr18:2703688) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | . |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | SMCHD1 | chr18:9182518 | chr18:2703688 | ENST00000261598 | 11 | 46 | 1720_1847 | 549 | 1918.0 | Domain | SMC hinge | |
| Tgene | SMCHD1 | chr18:9182518 | chr18:2703688 | ENST00000320876 | 11 | 48 | 1720_1847 | 549 | 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 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000262126 | + | 2 | 13 | 184_213 | 29 | 2063.0 | Repeat | Note=ANK 1 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000262126 | + | 2 | 13 | 217_246 | 29 | 2063.0 | Repeat | Note=ANK 2 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000262126 | + | 2 | 13 | 250_280 | 29 | 2063.0 | Repeat | Note=ANK 3 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000383440 | + | 2 | 12 | 184_213 | 29 | 2040.0 | Repeat | Note=ANK 1 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000383440 | + | 2 | 12 | 217_246 | 29 | 2040.0 | Repeat | Note=ANK 2 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000383440 | + | 2 | 12 | 250_280 | 29 | 2040.0 | Repeat | Note=ANK 3 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000400020 | + | 2 | 12 | 184_213 | 29 | 2040.0 | Repeat | Note=ANK 1 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000400020 | + | 2 | 12 | 217_246 | 29 | 2040.0 | Repeat | Note=ANK 2 |
| Hgene | ANKRD12 | chr18:9182518 | chr18:2703688 | ENST00000400020 | + | 2 | 12 | 250_280 | 29 | 2040.0 | Repeat | Note=ANK 3 |
| Tgene | SMCHD1 | chr18:9182518 | chr18:2703688 | ENST00000261598 | 11 | 46 | 111_702 | 549 | 1918.0 | Region | ATPase activity domain | |
| Tgene | SMCHD1 | chr18:9182518 | chr18:2703688 | ENST00000320876 | 11 | 48 | 111_702 | 549 | 2006.0 | Region | ATPase activity domain |
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Fusion Gene Sequence for ANKRD12-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. |
| >4582_4582_1_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000262126_SMCHD1_chr18_2703688_ENST00000261598_length(transcript)=4434nt_BP=327nt AATCGCGGGGCGACGCTGTCCTGGGAGCGAGGAGGCTGTGGTGAGAGACGGACCGAGACCGGAGATGTTTTCAAGCCCGGCTCCGGCGGC TTTACAGGCGGCTGCAGCGGCGACGAAGACAACGACAGCGACGGCTACGCCGAAGCACTCGTTCCGGGGGTGAAGCCTCCTGCGCCGGCC TTGCCTCGGATCCAGGATGAGAAGACTGATAAAAGAAGAAGCTAGCTGAACAGCTGTAAAATGCCCAAATCTGGGTTCACAAAACCAATT CAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGGAACAGCGAATGAAAATTGACAGAGAATTTGCT TTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCT AAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACA CTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATT GCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAA TATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCT GCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGG TCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGA AAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAAT GCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTT CTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGAT ATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCC AAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATT AGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAG GTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTC TATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAA GCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAA ATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATT TTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAAC AAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGAT GATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACA GTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCT TTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGA GGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATT TCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCT ATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTC ATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACT CTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGT CTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGT ATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACA TTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATAT TGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAG TTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGT ATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGAT ACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGT AGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCG TTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTAT AAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAAT GAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAA GAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCA CAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCA CGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCT CTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTA GAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTT GTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCT CCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGTGCATGCCTGT >4582_4582_1_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000262126_SMCHD1_chr18_2703688_ENST00000261598_length(amino acids)=1402AA_BP=34 MNSCKMPKSGFTKPIQSENSDSDSNMVEKPYGRKEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWD GKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSV TWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKL GNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYE EITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPK LIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQ DEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLP DEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLC FTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRA NLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMW KLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNV RSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEP RLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQV PHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLP LDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGD -------------------------------------------------------------- >4582_4582_2_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000262126_SMCHD1_chr18_2703688_ENST00000320876_length(transcript)=7163nt_BP=327nt AATCGCGGGGCGACGCTGTCCTGGGAGCGAGGAGGCTGTGGTGAGAGACGGACCGAGACCGGAGATGTTTTCAAGCCCGGCTCCGGCGGC TTTACAGGCGGCTGCAGCGGCGACGAAGACAACGACAGCGACGGCTACGCCGAAGCACTCGTTCCGGGGGTGAAGCCTCCTGCGCCGGCC TTGCCTCGGATCCAGGATGAGAAGACTGATAAAAGAAGAAGCTAGCTGAACAGCTGTAAAATGCCCAAATCTGGGTTCACAAAACCAATT CAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGGAACAGCGAATGAAAATTGACAGAGAATTTGCT TTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCT AAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACA CTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATT GCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAA TATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCT GCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGG TCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGA AAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAAT GCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTT CTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGAT ATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCC AAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATT AGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAG GTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTC TATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAA GCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAA ATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATT TTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAAC AAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGAT GATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACA GTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCT TTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGA GGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATT TCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCT ATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTC ATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACT CTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGT CTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGT ATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACA TTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATAT TGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAG TTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGT ATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGAT ACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGT AGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCG TTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTAT AAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAAT GAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAA GAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCA CAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCA CGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCT CTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTA GAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTT GTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCT CCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGATCTTCTTCAG CAGTATCGTTCTGCTGTGTGCAAACTAGACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCACTCCGGATATGAGGAAG AAAAAGCAAGAACTTGATGAACATGAGAAAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACTCCCATACGTAAGTGTAATGACTCA TTGCGTCATTCACCAAAGGTTGAGACGACAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAAGACAAAATAGGATTATA ACCAAAACAGATGTATGAGAGGTGACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCTGCATCTCTGTTTCAGAAGAC CAAGAGGGTGACTTACCAGACTGAGTATTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTCGATTCAGATGGGACTGGAAA CAACCATTCAATTTTATGAATCTTACTGGACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCTTTGGTTGTCACTACCTTGCA AATGTGTAAGAGGAAAATGTGCTAATGTGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTGAAGAAAAGTACATGTACTAT TTTTCAGTATAAATATAATGAACATGTCAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAATTTATTTAACAAAGATGTTTT GTCTTTTGTGTAAGGGAGGTTCTAGAGGCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGAATTCAGGATAAAAATTTTAA AAGCACAGGTATTTGGGAATTGAAATGTTAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTGACAGTGGTAGCATTTCAAAT TTCAAAAGACTTATCCTGTGTGTGTGTGTGTGTGTATATATATATATATATATAAATATATATATATAAAATATTCAGCAGCACCAAGTT TTATAACTATTGTTTGTTTGACTTTATTAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACATTATTTTGTAATTTTTTATT ACTATTTTTAAGGGGTTAAAGAGAACATACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCAAAAACATTTGAAATGTATAT TAACCTAATGTATGTCATATATATGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTAAGGACATACATTTGGTAAGT AAGTTTGTGTCCCAGGAAATGTATGTGTTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGATTGTTTCTTCCCTACTGAAT AGATAAGTGTTTTTCTTTTTTAAAATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATGTTAACCTATCTATCTTTATA ATTGGAAATTATTTAAACTGTTTGTTGTTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGGAAGATTGGCTCCCATGGTAC TACAGGTTGAGTATCCCTTATTCAAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGGTTTTTAAATTATTATTTTGG AATATTTGCATTATATTTACCAATTTAGCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCTTCAATGAGCATTTCCCTTAT GTGTCATATCTGCGCTCAAATGTTTTGAATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATACTCACCCCGTACCAATATTT GGAGTCCTTAGACATTAGATTATATGAAAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACTTTTTAGGAACTAGACTTGAA CGTATAATTAATATGTGGAACTAGTTTGCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAATCCAAGGCATTGAGACTATCT AGAAGCAAAAAAGTTGGTTTTAAAAATTCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCCTTGAGCGACAGTGGCCTCAC TACATTGCCCAGGCTAGTCTTGAACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAGGGATTACAGGCATGCACCCA CATGCCAATTTTTATTGCTTAAAATGGCGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTACACTTTTGTTCATTTTATAAT ACCAGAAAGAATGTTCTATCAGTAAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCTACCCTGTAAAAATTAACTTT GTGGTTCCCAGTAATTACAGTAAGGAGTTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCTCAGCATATTAAGGAATCCTT TTCTACATTTGAGCAAATACTGAGGTTCATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATATGTAACACGTAAGAACAATTG AAATTTTCTTCTAAGATTTAATACTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGCTACAGCCATTTATCCTGTGT TATGTGTTATATAATCTGAAATTTGTCACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCCAAAGGAAAATAATAGCCTAC >4582_4582_2_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000262126_SMCHD1_chr18_2703688_ENST00000320876_length(amino acids)=1490AA_BP=34 MNSCKMPKSGFTKPIQSENSDSDSNMVEKPYGRKEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWD GKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSV TWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKL GNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYE EITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPK LIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQ DEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLP DEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLC FTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRA NLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMW KLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNV RSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEP RLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQV PHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLP LDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGD RIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLI -------------------------------------------------------------- >4582_4582_3_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000383440_SMCHD1_chr18_2703688_ENST00000261598_length(transcript)=4451nt_BP=344nt GTGCTCGCGTCGCAGCCAATCGCGGGGCGACGCTGTCCTGGGAGCGAGGAGGCTGTGGTGAGAGACGGACCGAGACCGGAGATGTTTTCA AGCCCGGCTCCGGCGGCTTTACAGGCGGCTGCAGCGGCGACGAAGACAACGACAGCGACGGCTACGCCGAAGCACTCGTTCCGGGGGTGA AGCCTCCTGCGCCGGCCTTGCCTCGGATCCAGGATGAGAAGACTGATAAAAGAAGAAGCTAGCTGAACAGCTGTAAAATGCCCAAATCTG GGTTCACAAAACCAATTCAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGGAACAGCGAATGAAAA TTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACAC GTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGG TCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAG GAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTG AGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGC CTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAG GAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATA TTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTG TGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGA AATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCA GTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAA TTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACT CACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAA CAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTG CTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAA AAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCC ATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATA TTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATT GGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCC AGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAA TGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAG CATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACAC AGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTA TTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAA GAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAG CTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCC CTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACC CAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTA TTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCC CAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTA ATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGC CTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCA GAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTA ATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTC TGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAG AACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTC AGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAG AGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAA AGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAA AGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCC TAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTC CAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAA CATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATC ATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGG GCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAAC >4582_4582_3_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000383440_SMCHD1_chr18_2703688_ENST00000261598_length(amino acids)=1403AA_BP=34 MNSCKMPKSGFTKPIQSENSDSDSNMVEKPYGRKEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWD GKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSV TWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKL GNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYE EITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPK LIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQ DEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLP DEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLC FTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRA NLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMW KLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNV RSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEP RLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQV PHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLP LDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGD -------------------------------------------------------------- >4582_4582_4_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000383440_SMCHD1_chr18_2703688_ENST00000320876_length(transcript)=7180nt_BP=344nt GTGCTCGCGTCGCAGCCAATCGCGGGGCGACGCTGTCCTGGGAGCGAGGAGGCTGTGGTGAGAGACGGACCGAGACCGGAGATGTTTTCA AGCCCGGCTCCGGCGGCTTTACAGGCGGCTGCAGCGGCGACGAAGACAACGACAGCGACGGCTACGCCGAAGCACTCGTTCCGGGGGTGA AGCCTCCTGCGCCGGCCTTGCCTCGGATCCAGGATGAGAAGACTGATAAAAGAAGAAGCTAGCTGAACAGCTGTAAAATGCCCAAATCTG GGTTCACAAAACCAATTCAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGGAACAGCGAATGAAAA TTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACAC GTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGG TCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAG GAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTG AGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGC CTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAG GAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATA TTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTG TGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGA AATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCA GTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAA TTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACT CACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAA CAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTG CTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAA AAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCC ATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATA TTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATT GGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCC AGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAA TGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAG CATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACAC AGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTA TTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAA GAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAG CTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCC CTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACC CAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTA TTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCC CAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTA ATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGC CTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCA GAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTA ATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTC TGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAG AACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTC AGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAG AGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAA AGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAA AGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCC TAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTC CAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAA CATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATC ATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGG GCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAAC AAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAGACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCA CTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAGAAAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACTCCCATAC GTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGACAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAA GACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCTGCA TCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTATTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTCGAT TCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTGGACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCTTTG GTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGTGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTGAAG AAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTCAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAATTTA TTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGGCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGAATT CAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGTTAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTGACA GTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTGTGTGTGTATATATATATATATATATAAATATATATATATAAAATA TTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATTAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACATTA TTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACATACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCAAAA ACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTAAGG ACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGTTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGATTG TTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATGTTA ACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGTTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGGAAG ATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGGTTT TTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAGCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCTTCA ATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGAATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATACTC ACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAAAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACTTTT TAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTGCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAATCCA AGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATTCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCCTTG AGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAGGGA TTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGCGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTACACT TTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCTACC CTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGTTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCTCAG CATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTCATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATATGTA ACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGCTAC AGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCCAAA >4582_4582_4_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000383440_SMCHD1_chr18_2703688_ENST00000320876_length(amino acids)=1490AA_BP=34 MNSCKMPKSGFTKPIQSENSDSDSNMVEKPYGRKEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWD GKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSV TWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKL GNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYE EITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPK LIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQ DEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLP DEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLC FTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRA NLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMW KLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNV RSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEP RLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQV PHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLP LDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGD RIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLI -------------------------------------------------------------- >4582_4582_5_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000400020_SMCHD1_chr18_2703688_ENST00000261598_length(transcript)=4556nt_BP=449nt CGGCCGCTCGGGCCGGGAGCGTCGGAGGTACCCGGGTCCTGGGAGAGGTGGATGAAATCAAGAAGGGGAAATTGCTGCTTTAGTAGTGTC CGGGGAAAGAGCAGCCACTCTACAGTTCTGTCTTAAATGCCAGTGTAAAATAACCTTGCCGCATTGGACAGGCAGTTCCCGTCATCGTTT TTCAAGTACCCACTTGTGATGCTTCAAGACCCCTGGAGCACGTCAGGTTCTTAGATCTCGTTTTGAGGAGTGATGTGGAGTGACGCATCC TTACAGATCCCAAAGCGTTGAATAAACGGTTGTACAAAGAGATCCAGGATGAGAAGACTGATAAAAGAAGAAGCTAGCTGAACAGCTGTA AAATGCCCAAATCTGGGTTCACAAAACCAATTCAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGG AACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTA AGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACA AAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAG AAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGG ATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAG GAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAA TGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAG AGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCT TGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAG AGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATG AATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAG GACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTG GCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAG TTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATT GTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAG TTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGT TGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATT GGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAA AAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAG ATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAAC ATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACG GAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCT TTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTG AGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTC CAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAA TAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTAT TCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAA TGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATT TTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCA GTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGG ATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTA TAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCA GTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCA CCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGG CTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTT TATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAA AGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAG AAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAG CACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTG GAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGG ACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTT ACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTG CTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATC TGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTA ATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTC >4582_4582_5_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000400020_SMCHD1_chr18_2703688_ENST00000261598_length(amino acids)=1403AA_BP=34 MNSCKMPKSGFTKPIQSENSDSDSNMVEKPYGRKEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWD GKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSV TWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKL GNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYE EITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPK LIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQ DEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLP DEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLC FTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRA NLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMW KLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNV RSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEP RLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQV PHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLP LDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGD -------------------------------------------------------------- >4582_4582_6_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000400020_SMCHD1_chr18_2703688_ENST00000320876_length(transcript)=7285nt_BP=449nt CGGCCGCTCGGGCCGGGAGCGTCGGAGGTACCCGGGTCCTGGGAGAGGTGGATGAAATCAAGAAGGGGAAATTGCTGCTTTAGTAGTGTC CGGGGAAAGAGCAGCCACTCTACAGTTCTGTCTTAAATGCCAGTGTAAAATAACCTTGCCGCATTGGACAGGCAGTTCCCGTCATCGTTT TTCAAGTACCCACTTGTGATGCTTCAAGACCCCTGGAGCACGTCAGGTTCTTAGATCTCGTTTTGAGGAGTGATGTGGAGTGACGCATCC TTACAGATCCCAAAGCGTTGAATAAACGGTTGTACAAAGAGATCCAGGATGAGAAGACTGATAAAAGAAGAAGCTAGCTGAACAGCTGTA AAATGCCCAAATCTGGGTTCACAAAACCAATTCAGAGTGAAAATTCTGACAGTGACAGCAATATGGTAGAGAAACCATATGGAAGAAAGG AACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTA AGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACA AAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAG AAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGG ATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAG GAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAA TGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAG AGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCT TGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAG AGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATG AATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAG GACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTG GCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAG TTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATT GTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAG TTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGT TGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATT GGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAA AAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAG ATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAAC ATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACG GAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCT TTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTG AGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTC CAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAA TAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTAT TCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAA TGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATT TTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCA GTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGG ATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTA TAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCA GTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCA CCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGG CTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTT TATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAA AGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAG AAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAG CACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTG GAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGG ACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTT ACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTG CTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATC TGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTA ATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTC TGATCTTAGGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAGACAGTGTGAATAAGGATCTTAACAGTCAAT TAGAGTACCTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAGAAAAATCTCAAACTAATAGAGGAAAAACTAG GTATGACTCCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGACAGATTGTCCAGTTCCTCCTAAAAGAATGA GACGAGAAGCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAAT GCCCTGCTTTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTATTTCTGGGGACAATACAAGTACCTGGGCATG AATTTCCATTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTGGACATTATGGATTTACTGGAATTATTCCAG ACATTATGCCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGTGGCAGTGACTGTAAAACTGGCACATGGCAT TTATTAATCCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTCAGAACTATTTCTTGAAAACCTTTTTATTAC TTTTGCGTGAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGGCTAGATGTTTAATTGTAAATATGTGAGGAA ACTCAATGCAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGTTAAGATACCCAGAACAACATTAAATCAATG AGTGAACTTGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTGTGTGTGTATATATATATATATATATAAATA TATATATATAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATTAATACTAGAATATGTAGTCTCAGCCTTAAT TTTACATTTACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACATACATTCTCACATTAGTGTACTTTCTGGTAG AAAGTTGCTGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGA AGTTATTTTGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGTTTTTAAACCCTTTCTAAATATGCAGGCCAT TAATAAATAAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAA ACGATGATGATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGTTACAGAAGAAACAAAATGGTAATTACAGAA TTAGCTGTGGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGG TTTTTTGTGGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAGCATCCCTAATCCAAAAATCTTTCATTAGAA ATTGGAAATGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGAATTTTGGAACATTTCTTGTTTCTGACTTTT AGATTAGGGATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAAAATGATTGATTGATAGGTAAGAAAGGTTAA AGAGAAATGACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTGCTTTTATAATTCATTGTATCAAGAAGGAGT CATGTTTTAAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATTCTTTTTATTAGAAGTGTGTTTAAAAACATG TCTTTTTTTCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCT CCTAAGTAGCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGCGAGTTCTATGGATATTATCTAGCCCCAAGC CCATATCTGTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTG TGGAGTTTTTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGTTTTTCTATATTTTCACAGTTGGATTTATCT AAGGATATTTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTCATGTTGTACCAAATAATAATAAATTGCTTT TGTGTTTAATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAA AAAAATTAATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCACAATGTTACAATCAGGAAGTTTTTTTTCTG >4582_4582_6_ANKRD12-SMCHD1_ANKRD12_chr18_9182518_ENST00000400020_SMCHD1_chr18_2703688_ENST00000320876_length(amino acids)=1490AA_BP=34 MNSCKMPKSGFTKPIQSENSDSDSNMVEKPYGRKEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWD GKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSV TWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKL GNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYE EITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPK LIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQ DEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLP DEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLC FTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRA NLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMW KLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNV RSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEP RLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQV PHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLP LDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGD RIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLI -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ANKRD12-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 ANKRD12-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 ANKRD12-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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