FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:DIS3L-SMCHD1 (FusionGDB2 ID:22931)

Fusion Gene Summary for DIS3L-SMCHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: DIS3L-SMCHD1
Fusion gene ID: 22931
HgeneTgene
Gene symbol

DIS3L

SMCHD1

Gene ID

115752

23347

Gene nameDIS3 like exosome 3'-5' exoribonucleasestructural maintenance of chromosomes flexible hinge domain containing 1
SynonymsDIS3L1BAMS|FSHD2
Cytomap

15q22.31

18p11.32

Type of geneprotein-codingprotein-coding
DescriptionDIS3-like exonuclease 1DIS3 mitotic control homolog-likestructural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1
Modification date2020031320200313
UniProtAcc

Q8TF46

.
Ensembl transtripts involved in fusion geneENST00000568874, ENST00000319194, 
ENST00000319212, ENST00000441424, 
ENST00000261598, ENST00000320876, 
ENST00000609587, 
Fusion gene scores* DoF score6 X 6 X 4=14413 X 12 X 6=936
# samples 713
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/936*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIS3L [Title/Abstract] AND SMCHD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIS3L(66621737)-SMCHD1(2694525), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDIS3L

GO:0016075

rRNA catabolic process

20531389

TgeneSMCHD1

GO:0009048

dosage compensation by inactivation of X chromosome

23542155


check buttonFusion gene breakpoints across DIS3L (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion 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.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A081-01ADIS3Lchr15

66621737

+SMCHD1chr18

2694525

+


Top

Fusion Gene ORF analysis for DIS3L-SMCHD1

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000568874ENST00000261598DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
3UTR-3CDSENST00000568874ENST00000320876DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
3UTR-intronENST00000568874ENST00000609587DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
5CDS-intronENST00000319194ENST00000609587DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
5CDS-intronENST00000319212ENST00000609587DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
In-frameENST00000319194ENST00000261598DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
In-frameENST00000319194ENST00000320876DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
In-frameENST00000319212ENST00000261598DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
In-frameENST00000319212ENST00000320876DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
intron-3CDSENST00000441424ENST00000261598DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
intron-3CDSENST00000441424ENST00000320876DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+
intron-intronENST00000441424ENST00000609587DIS3Lchr15

66621737

+SMCHD1chr18

2694525

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000319194DIS3Lchr1566621737+ENST00000320876SMCHD1chr182694525+10157254716276912509
ENST00000319194DIS3Lchr1566621737+ENST00000261598SMCHD1chr182694525+7428254716274272421
ENST00000319212DIS3Lchr1566621737+ENST00000320876SMCHD1chr182694525+1019525855077292559
ENST00000319212DIS3Lchr1566621737+ENST00000261598SMCHD1chr182694525+746625855074652472

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000319194ENST00000320876DIS3Lchr1566621737+SMCHD1chr182694525+0.0001819140.99981815
ENST00000319194ENST00000261598DIS3Lchr1566621737+SMCHD1chr182694525+0.00018550.99981457
ENST00000319212ENST00000320876DIS3Lchr1566621737+SMCHD1chr182694525+0.0001532090.9998468
ENST00000319212ENST00000261598DIS3Lchr1566621737+SMCHD1chr182694525+0.0001749450.99982506

Top

Fusion Genomic Features for DIS3L-SMCHD1


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
DIS3Lchr1566621737+SMCHD1chr182694524+1.55E-050.9999845
DIS3Lchr1566621737+SMCHD1chr182694524+1.55E-050.9999845

check buttonDistribution 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.
genomic feature

check buttonDistribution 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.
genomic feature of top 1%

Top

Fusion Protein Features for DIS3L-SMCHD1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:66621737/chr18:2694525)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DIS3L

Q8TF46

.
FUNCTION: Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. {ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSMCHD1chr15:66621737chr18:2694525ENST000002615986461720_18472911918.0DomainSMC hinge
TgeneSMCHD1chr15:66621737chr18:2694525ENST000003208766481720_18472912006.0DomainSMC hinge

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSMCHD1chr15:66621737chr18:2694525ENST00000261598646111_7022911918.0RegionATPase activity domain
TgeneSMCHD1chr15:66621737chr18:2694525ENST00000320876648111_7022912006.0RegionATPase activity domain


Top

Fusion Gene Sequence for DIS3L-SMCHD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>22931_22931_1_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000261598_length(transcript)=7428nt_BP=2547nt
ATTAATTACCCGGTATTAGTATTAATACGGCGGCTCCATTCCCACATGGACCTGGGGGGGACAAACAAAGTCTCCTAATCTTGGACAGCT
GCGCCCAGCCCTTCTTCACCTGCCGTCCAGGTATCATCCTAGTCTTCCCTCCGTCTCTGGGATGGGAAACTCTTGTCTAGTGATGTGACT
CATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTGAGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACA
GCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGCGAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTC
TTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGTCCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCA
GCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGACAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAA
ACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGCCTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATC
CTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGGAGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCT
GGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACAGAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCC
AGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGGCTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTG
GAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGAATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGT
GAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGGATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAA
TCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAATTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACC
CTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTGTGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGA
ATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTTCAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATG
CCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAAAACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGC
ATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCTTAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCA
GATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAACAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTAT
GACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCGTTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGAT
AAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGATCAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTA
CTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGGATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTG
TGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAGACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTT
TGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGCCCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATC
CTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGGCCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTC
TTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACACGGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCG
AACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGCAGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCC
TGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCCACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTA
GTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTAAGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTA
TGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAG
GAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGG
ACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAAC
AATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTG
TATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTC
TTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAG
AAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGT
ACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGC
ACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGA
ATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTA
ATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGA
CAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATAT
GCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACA
GTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAA
TTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAG
CTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATT
TCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTA
CAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAG
CCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGT
CATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAAT
TGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAA
GAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAA
AATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTT
TCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAAT
ATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCC
AGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCG
GGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAA
GTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGC
TATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAA
TGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAG
ATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAA
AACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCT
GACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATT
AATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTT
ACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTT
TTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTT
CCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATT
AGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAAC
CGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTA
ATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAA
GTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACC
TTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAA
GGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATC
ATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGA
ACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAA
TTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGA
TTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTG
AAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTT
TTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTA
GTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAG
ACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGAC
TTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCG
GCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAG
TTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTA

>22931_22931_1_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000261598_length(amino acids)=2421AA_BP=795
MSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQAVQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQT
RSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGVFVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLP
LEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKDSDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKA
SGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGKNAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHF
VRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNTPESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLE
LGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLPSVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFY
EAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIGKLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHET
VAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSELRECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNAL
YFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRLLMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFL
HHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQ
DDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSV
EDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKF
TLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPI
AKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSS
GNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLE
FQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDS
EILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEK
TIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPT
SVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNL
KTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQ
HVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGL
FTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNS
EQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFV
NGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKC
QVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLA
SDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTII

--------------------------------------------------------------
>22931_22931_2_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000320876_length(transcript)=10157nt_BP=2547nt
ATTAATTACCCGGTATTAGTATTAATACGGCGGCTCCATTCCCACATGGACCTGGGGGGGACAAACAAAGTCTCCTAATCTTGGACAGCT
GCGCCCAGCCCTTCTTCACCTGCCGTCCAGGTATCATCCTAGTCTTCCCTCCGTCTCTGGGATGGGAAACTCTTGTCTAGTGATGTGACT
CATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTGAGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACA
GCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGCGAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTC
TTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGTCCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCA
GCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGACAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAA
ACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGCCTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATC
CTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGGAGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCT
GGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACAGAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCC
AGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGGCTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTG
GAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGAATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGT
GAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGGATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAA
TCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAATTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACC
CTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTGTGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGA
ATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTTCAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATG
CCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAAAACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGC
ATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCTTAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCA
GATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAACAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTAT
GACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCGTTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGAT
AAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGATCAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTA
CTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGGATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTG
TGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAGACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTT
TGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGCCCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATC
CTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGGCCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTC
TTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACACGGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCG
AACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGCAGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCC
TGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCCACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTA
GTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTAAGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTA
TGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAG
GAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGG
ACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAAC
AATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTG
TATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTC
TTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAG
AAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGT
ACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGC
ACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGA
ATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTA
ATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGA
CAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATAT
GCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACA
GTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAA
TTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAG
CTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATT
TCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTA
CAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAG
CCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGT
CATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAAT
TGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAA
GAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAA
AATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTT
TCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAAT
ATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCC
AGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCG
GGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAA
GTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGC
TATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAA
TGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGTTATAATAATTACAGATCAGTACGGAAATCAG
ATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAA
AACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCT
GACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATT
AATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTT
ACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAGATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTT
TTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATGATTCTT
CCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATT
AGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAAC
CGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTA
ATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAA
GTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACC
TTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACCATTAAA
GGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATC
ATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGA
ACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAA
TTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGA
TTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTGCCACACATTGAAGCACTTCTG
AAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTT
TTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTA
GTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAG
ACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGTATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGAC
TTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTGGATGCG
GCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAG
TTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTA
GGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAGACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTAC
CTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAGAAAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACT
CCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGACAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAA
GCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCT
TTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTATTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCA
TTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTGGACATTATGGATTTACTGGAATTATTCCAGACATTATG
CCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGTGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAAT
CCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTCAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGT
GAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGGCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATG
CAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGTTAAGATACCCAGAACAACATTAAATCAATGAGTGAACT
TGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTGTGTGTGTATATATATATATATATATAAATATATATATA
TAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATTAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATT
TACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACATACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGC
TGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTT
TGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGTTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAAT
AAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGAT
GATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGTTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGT
GGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGT
GGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAGCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAA
TGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGAATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGG
GATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAAAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAAT
GACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTGCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTT
AAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATTCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTT
TCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTA
GCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGCGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCT
GTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTT
TTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGTTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATAT
TTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTCATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTA
ATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTA
ATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTC

>22931_22931_2_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319194_SMCHD1_chr18_2694525_ENST00000320876_length(amino acids)=2509AA_BP=795
MSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQAVQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQT
RSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGVFVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLP
LEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKDSDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKA
SGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGKNAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHF
VRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNTPESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLE
LGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLPSVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFY
EAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIGKLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHET
VAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSELRECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNAL
YFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRLLMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFL
HHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQ
DDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSV
EDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKF
TLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPI
AKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSS
GNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLE
FQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDS
EILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEK
TIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPT
SVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNL
KTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQ
HVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGL
FTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNS
EQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFV
NGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKC
QVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLA
SDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTII
LDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDL

--------------------------------------------------------------
>22931_22931_3_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000261598_length(transcript)=7466nt_BP=2585nt
CTTGCCTCCGCCGCGCCCGCCACTCCGCGGCCGCCGGGAGACACGCCGCCATGCTGCAGAAGCGGGAGAAGGTGCTGCTGCTGAGGACCT
TCCAGGGCCGCACGCTGCGGATCGTGCGCGAGCACTACCTGCGGCCCTGCGTGCCCTGCCACAGCCCGCTCTGCCCGCAGCCCGCCGCCT
GCAGCCACGATGGGAAACTCTTGTCTAGTGATGTGACTCATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTG
AGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACAGCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGC
GAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTCTTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGT
CCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCAGCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGA
CAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAAACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGC
CTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATCCTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGG
AGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCTGGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACA
GAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCCAGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGG
CTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTGGAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGA
ATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGTGAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGG
ATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAATCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAA
TTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACCCTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTG
TGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGAATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTT
CAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATGCCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAA
AACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGCATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCT
TAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCAGATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAA
CAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTATGACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCG
TTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGATAAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGAT
CAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTACTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGG
ATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTGTGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAG
ACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTTTGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGC
CCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATCCTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGG
CCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTCTTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACAC
GGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCGAACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGC
AGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCCTGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCC
ACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTAGTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTA
AGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTATGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAA
ATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAG
AACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAA
ATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTG
TCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAG
ATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAA
AAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGAT
TAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATAT
CTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACA
CCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGT
ATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATG
CAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAA
GATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATG
AAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCC
CTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAA
TTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAG
TTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGG
AAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTAC
CATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTC
CATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTT
TATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCA
AGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGAC
TGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACA
TAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAA
CCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAG
ATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAA
TTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAG
AAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTC
CTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTA
CAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAG
AAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTG
GACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTG
GAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTA
TAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGG
ATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAG
ATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAA
GTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCAT
CCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTA
TTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATG
ACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATA
AAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACAC
CAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTG
GAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAA
CACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATT
TTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGC
AGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGC
TTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTC
CTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGT
GTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGG
TTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTC
GTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGT
ATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGC
TGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGC
TGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGG

>22931_22931_3_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000261598_length(amino acids)=2472AA_BP=845
MLQKREKVLLLRTFQGRTLRIVREHYLRPCVPCHSPLCPQPAACSHDGKLLSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQA
VQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQTRSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGV
FVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLPLEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKD
SDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKASGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGK
NAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHFVRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNT
PESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLELGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLP
SVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFYEAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIG
KLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHETVAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSEL
RECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNALYFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRL
LMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQL
AHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDR
ETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKL
TFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVK
TIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPN
EVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVL
NESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIR
GVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAP
NLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIM
HNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMK
GGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIR
VQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPR
GEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPA
NAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRD
LHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEP
YILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKL
SEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPD
WKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGL

--------------------------------------------------------------
>22931_22931_4_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000320876_length(transcript)=10195nt_BP=2585nt
CTTGCCTCCGCCGCGCCCGCCACTCCGCGGCCGCCGGGAGACACGCCGCCATGCTGCAGAAGCGGGAGAAGGTGCTGCTGCTGAGGACCT
TCCAGGGCCGCACGCTGCGGATCGTGCGCGAGCACTACCTGCGGCCCTGCGTGCCCTGCCACAGCCCGCTCTGCCCGCAGCCCGCCGCCT
GCAGCCACGATGGGAAACTCTTGTCTAGTGATGTGACTCATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTTGAGATCCTTG
AGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACAGCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGC
GAAACCTGCTGAAGGATGCGCGTCATGATTGCATTCTCTTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGT
CCATGGAGAAGTGGCAGACCAGGAGCATATACAACGCAGCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGA
CAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGTGAAACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGC
CTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATCCTTCAGTCTCGACGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGG
AGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCTGGGATTAAATCTGGACGCTATATCCAGGGAATTCTGAATGTCAACAAACACA
GAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCCAGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCACGGGATGAAGG
CTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTGGAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGA
ATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGTGAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGG
ATTATGTGGTGACATTTCCGTCCAAAGAAGAGGTCCAATCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAA
TTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAAACCCTCCAGGACTTCAGGGTGGTCGTGCGCATCGATTCCTGGGAGTCAACATCTG
TGTATCCAAATGGACATTTTGTGCGTGTTTTAGGAAGAATCGGAGATCTGGAAGGGGAAATTGCAACCATCCTGGTGGAAAACAGTATTT
CAGTTATTCCTTTCTCAGAAGCTCAGATGTGTGAGATGCCAGTAAACACACCAGAAAGTCCCTGGAAGGTGAGTCCTGAAGAGGAACAAA
AACGTAAAGACTTGAGGAAAAGCCATCTCGTATTCAGCATTGACCCCAAAGGTTGTGAAGATGTGGATGACACACTCTCAGTCAGAACCT
TAAATAATGGCAACCTGGAACTTGGGGTCCACATCGCAGATGTAACACACTTTGTGGCACCAAATTCTTACATTGATATTGAAGCTAGAA
CAAGGGCCACCACTTATTATCTAGCAGATCGTCGCTATGACATGCTGCCTTCCGTCCTCAGTGCAGATTTGTGTTCCCTTCTGGGAGGCG
TTGATAGGTATGCTGTAAGCATCATGTGGGAACTGGATAAAGCCTCTTATGAAATTAAGAAAGTGTGGTATGGCAGAACCATTATTCGAT
CAGCATACAAACTGTTCTATGAAGCAGCCCAAGAACTACTGGATGGAAACTTAAGCGTTGTTGATGATATTCCAGAATTCAAAGACTTGG
ATGAGAAGAGCAGACAAGCCAAGCTGGAGGAGTTGGTGTGGGCAATTGGAAAGCTGACCGACATAGCTCGCCATGTCAGAGCTAAACGAG
ACGGATGTGGTGCCCTGGAACTGGAAGGGGTAGAGGTTTGCGTACAGCTAGATGACAAAAAGAACATTCACGACCTCATCCCCAAGCAGC
CCCTGGAAGTCCACGAGACAGTGGCTGAATGCATGATCCTGGCCAACCACTGGGTCGCCAAAAAGATCTGGGAGAGCTTCCCTCATCAGG
CCTTGCTGCGCCAGCACCCTCCTCCACACCAGGAGTTCTTTTCAGAACTCCGGGAATGTGCTAAAGCCAAAGGCTTCTTCATAGATACAC
GGTCCAATAAAACACTGGCTGATTCTCTGGATAATGCGAACGACCCCCACGATCCCATTGTGAACAGGCTACTGCGCTCCATGGCCACGC
AGGCCATGTCGAATGCTCTGTACTTCTCCACCGGATCCTGTGCGGAGGAGGAGTTCCATCATTACGGTCTTGCATTAGATAAATATACCC
ACTTTACTTCTCCAATAAGAAGATATTCAGATATTGTAGTACACCGCTTGTTAATGGCAGCCATTTCAAAAGATAAGAAAATGGAAATTA
AGGGAAATCTGTTCAGCAACAAAGATCTTGAGGAATTATGCAGACATATCAACAACAGAAACCAACCCTCTGATTCTGTTCACATTACAA
ATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAG
AACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAA
ATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTG
TCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAG
ATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAA
AAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGAT
TAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATAT
CTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACA
CCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGT
ATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATG
CAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAA
GATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATG
AAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCC
CTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAA
TTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAG
TTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGG
AAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTAC
CATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTC
CATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTT
TATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCA
AGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGAC
TGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACA
TAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAA
CCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAG
ATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAA
TTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAG
AAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTC
CTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTA
CAGTAAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAG
AAGTAGTTATAATAATTACAGATCAGTACGGAAATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTG
GACTTGATAGCTCAAATTTGAAAACAACCTTTCAGGAAAACACACAGAGTATAAGTGTAAGAGGCATCAAATTTATTCCAGGTCCTCCTG
GAAATAAGGATCTTTGTTTTACTTGGCGTGAGTTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTA
TAGACTGGCCAGAACTAAAGGAGTCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCTATTATTGTTCAACTTTGTGATCAGTGGG
ATAATCCAGCACCGGTACAACATGTTAAAATAAGTCTTACAAAAGCTAGCAATTTAAAGCTCATGCCTTCAAACCAACAGCATAAAACAG
ATGAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAGGGGAGAGCATACTCTTCAGGTTAAAGCCATCTATAACAAAA
GTATCATAGAAGGACCTATAATTAAGTTAATGATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCAT
CCTTCTTAGCAGGGGGTCTTTTCACTGATTTTATGATTAGTGTTATTTCTGAAGATGACAGTATCATTAAAAACATTAATCCAGCACGTA
TTTCCATGAAAATGTGGAAGCTGTCTACCAGTGGGAACCGACCCCCAGCAAATGCAGAAACATTTAGTTGTAATAAAATAAAAGATAATG
ACAAAGAAGATGGCTGCTTCTATTTCAGGGATAAAGTAATTCCTAATAAAGTGGGGACATATTGTATCCAGTTTGGTTTTATGATGGATA
AAACAAATATTCTCAACAGTGAACAGGTTATAGTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACAC
CAGCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGTATCACGGATGACTACGACAACCATACTG
GAATTGATTTGGTTGGCACTATAATAGCCACCATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAA
CACTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATT
TTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGATGTTAAGAAGC
AGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGC
TTCTTAATGAAATGAAATGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTC
CTACAACACAACAGGTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAAGAACTGAAGAAAAAACCTAGAAGATCGT
GTACTCTTCCAAACTATACTAAAGGCAGTGGAGATGTTTTGGGAAAGATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGG
TTATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCACGTCGTATCTATGATGAAACCCAAGGTC
GTCAGCAGGTGTTGCCCCTTGATTCTATTTACAAGAAGACTCTTCCAGATTGGAAAAGATCTCTACCTCATTTCCGAAATGGAAAATTGT
ATTTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTAGAACATTGTGAAACAGTATTTGGTATGC
TGTTAGGAGACACCATTATTTTGGATAATCTGGATGCGGCCAATCATTATAGAAAAGAGGTTGTTAAAATTACACACTGTCCTACACTGC
TGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGG
TATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAG
ACAGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCACTCCGGATATGAGGAAGAAAAAGCAAGAACTTGATGAACATGAGA
AAAATCTCAAACTAATAGAGGAAAAACTAGGTATGACTCCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGA
CAGATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAAGACAAAATAGGATTATAACCAAAACAGATGTATGAGAGGTGACAG
AGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCTGCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTAT
TTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTCGATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTG
GACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCTTTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGT
GGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTGAAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTC
AGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAATTTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGG
CTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGAATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGT
TAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTGACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTG
TGTGTGTATATATATATATATATATAAATATATATATATAAAATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATT
AATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACATTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACAT
ACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCAAAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCT
TTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTAAGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGT
TTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGATTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTG
GAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATGTTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGT
TACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGGAAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAAT
GGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGGTTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAG
CATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCTTCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGA
ATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATACTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAA
AATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACTTTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTG
CTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAATCCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATT
CTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCCTTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCC
TGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAGGGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGC
GAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTACACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAG
AAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCTACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGT
TTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCTCAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTC
ATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATATGTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGT
CTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGCTACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCA
CAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCCAAAGGAAAATAATAGCCTACTTGTATTTTGAAGTAACTGAAATAAAAC

>22931_22931_4_DIS3L-SMCHD1_DIS3L_chr15_66621737_ENST00000319212_SMCHD1_chr18_2694525_ENST00000320876_length(amino acids)=2559AA_BP=845
MLQKREKVLLLRTFQGRTLRIVREHYLRPCVPCHSPLCPQPAACSHDGKLLSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQA
VQHQRGRRQYNKLRNLLKDARHDCILFANEFQQCCYLPRERGESMEKWQTRSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGV
FVITFKNYLDNFWPDLKAAHELCDSILQSRRERENESQESHGKEYPEHLPLEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKD
SDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCENDCDDKASGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGK
NAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHFVRVLGRIGDLEGEIATILVENSISVIPFSEAQMCEMPVNT
PESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLELGVHIADVTHFVAPNSYIDIEARTRATTYYLADRRYDMLP
SVLSADLCSLLGGVDRYAVSIMWELDKASYEIKKVWYGRTIIRSAYKLFYEAAQELLDGNLSVVDDIPEFKDLDEKSRQAKLEELVWAIG
KLTDIARHVRAKRDGCGALELEGVEVCVQLDDKKNIHDLIPKQPLEVHETVAECMILANHWVAKKIWESFPHQALLRQHPPPHQEFFSEL
RECAKAKGFFIDTRSNKTLADSLDNANDPHDPIVNRLLRSMATQAMSNALYFSTGSCAEEEFHHYGLALDKYTHFTSPIRRYSDIVVHRL
LMAAISKDKKMEIKGNLFSNKDLEELCRHINNRNQPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQL
AHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDR
ETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKL
TFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVK
TIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPN
EVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVL
NESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIR
GVTAKGPVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAP
NLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIM
HNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMK
GGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIR
VQLISGPPAKLLLIDWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPR
GEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPA
NAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRD
LHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEP
YILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKL
SEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPD
WKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGL
QNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRK

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for DIS3L-SMCHD1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for DIS3L-SMCHD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for DIS3L-SMCHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource