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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SMCHD1-NDC80 (FusionGDB2 ID:84030)

Fusion Gene Summary for SMCHD1-NDC80

check button Fusion gene summary
Fusion gene informationFusion gene name: SMCHD1-NDC80
Fusion gene ID: 84030
HgeneTgene
Gene symbol

SMCHD1

NDC80

Gene ID

23347

10403

Gene namestructural maintenance of chromosomes flexible hinge domain containing 1NDC80 kinetochore complex component
SynonymsBAMS|FSHD2HEC|HEC1|HsHec1|KNTC2|TID3|hsNDC80
Cytomap

18p11.32

18p11.32

Type of geneprotein-codingprotein-coding
Descriptionstructural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1kinetochore protein NDC80 homologNDC80 homolog, kinetochore complex componentNDC80 kinetochore complex component homologhighly expressed in cancer proteinhighly expressed in cancer, rich in leucine heptad repeatskinetochore associated 2kinetochore p
Modification date2020031320200327
UniProtAcc.

O14777

Ensembl transtripts involved in fusion geneENST00000261598, ENST00000320876, 
ENST00000609587, 		ENST00000261597, 
Fusion gene scores* DoF score6 X 9 X 6=3243 X 8 X 5=120
# samples 118
** MAII scorelog2(11/324*10)=-1.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMCHD1 [Title/Abstract] AND NDC80 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMCHD1(2656260)-NDC80(2601395), # samples:3
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
HgeneSMCHD1

GO:0009048

dosage compensation by inactivation of X chromosome

23542155


check buttonFusion gene breakpoints across SMCHD1 (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 NDC80 (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
ChimerDB4BLCATCGA-ZF-A9RD-01ASMCHD1chr18

2656260

-NDC80chr18

2599018

+
ChimerDB4BLCATCGA-ZF-A9RDSMCHD1chr18

2656260

+NDC80chr18

2599018

+
ChimerDB4LUADTCGA-62-A46U-01ASMCHD1chr18

2688745

-NDC80chr18

2585112

+
ChimerDB4LUADTCGA-62-A46U-01ASMCHD1chr18

2688745

+NDC80chr18

2585112

+
ChimerDB4LUADTCGA-62-A46USMCHD1chr18

2688745

+NDC80chr18

2585111

+
ChimerDB4SARCTCGA-IF-A4AJ-01ASMCHD1chr18

2732490

-NDC80chr18

2599018

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656259

+NDC80chr18

2601394

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656260

-NDC80chr18

2601395

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656260

+NDC80chr18

2601395

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656260

+NDC80chr18

2606414

+
ChimerDB4UCECTCGA-2E-A9G8SMCHD1chr18

2656260

+NDC80chr18

2601395

+
ChimerDB4UCECTCGA-2E-A9G8SMCHD1chr18

2656260

+NDC80chr18

2606414

+


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Fusion Gene ORF analysis for SMCHD1-NDC80

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
In-frameENST00000261598ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2599018

+
In-frameENST00000261598ENST00000261597SMCHD1chr18

2688745

+NDC80chr18

2585112

+
In-frameENST00000261598ENST00000261597SMCHD1chr18

2688745

+NDC80chr18

2585111

+
In-frameENST00000261598ENST00000261597SMCHD1chr18

2732490

-NDC80chr18

2599018

+
In-frameENST00000261598ENST00000261597SMCHD1chr18

2656259

+NDC80chr18

2601394

+
In-frameENST00000261598ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2601395

+
In-frameENST00000261598ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2606414

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2599018

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2688745

+NDC80chr18

2585112

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2688745

+NDC80chr18

2585111

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2732490

-NDC80chr18

2599018

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2656259

+NDC80chr18

2601394

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2601395

+
In-frameENST00000320876ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2606414

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2599018

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2688745

+NDC80chr18

2585112

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2688745

+NDC80chr18

2585111

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2732490

-NDC80chr18

2599018

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2656259

+NDC80chr18

2601394

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2601395

+
intron-3CDSENST00000609587ENST00000261597SMCHD1chr18

2656260

+NDC80chr18

2606414

+

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)
ENST00000320876SMCHD1chr182688745+ENST00000261597NDC80chr182585111+262212113142560748
ENST00000261598SMCHD1chr182688745+ENST00000261597NDC80chr182585111+247310621652411748
ENST00000320876SMCHD1chr182688745+ENST00000261597NDC80chr182585112+262212113142560748
ENST00000261598SMCHD1chr182688745+ENST00000261597NDC80chr182585112+247310621652411748
ENST00000320876SMCHD1chr182732490-ENST00000261597NDC80chr182599018+4383361431443211335
ENST00000261598SMCHD1chr182732490-ENST00000261597NDC80chr182599018+4234346516541721335

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
ENST00000320876ENST00000261597SMCHD1chr182688745+NDC80chr182585111+0.0005154430.99948454
ENST00000261598ENST00000261597SMCHD1chr182688745+NDC80chr182585111+0.0005760810.999424
ENST00000320876ENST00000261597SMCHD1chr182688745+NDC80chr182585112+0.0005154430.99948454
ENST00000261598ENST00000261597SMCHD1chr182688745+NDC80chr182585112+0.0005760810.999424
ENST00000320876ENST00000261597SMCHD1chr182732490-NDC80chr182599018+0.0001231480.99987686
ENST00000261598ENST00000261597SMCHD1chr182732490-NDC80chr182599018+0.0001138590.99988616

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Fusion Genomic Features for SMCHD1-NDC80


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)
SMCHD1chr182656260+NDC80chr182601394+0.0014694840.9985305
SMCHD1chr182656260+NDC80chr182599017+0.0001061960.9998938
SMCHD1chr182656260+NDC80chr182606413+2.84E-060.99999714
SMCHD1chr182688745+NDC80chr182585111+1.22E-060.9999988
SMCHD1chr182688745+NDC80chr182585111+1.22E-060.9999988
SMCHD1chr182656260+NDC80chr182601394+0.0014694840.9985305
SMCHD1chr182656260+NDC80chr182599017+0.0001061960.9998938
SMCHD1chr182656260+NDC80chr182606413+2.84E-060.99999714
SMCHD1chr182688745+NDC80chr182585111+1.22E-060.9999988
SMCHD1chr182688745+NDC80chr182585111+1.22E-060.9999988

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%

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Fusion Protein Features for SMCHD1-NDC80


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/chr18:2656260/chr18:2601395)
- 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
.NDC80

O14777

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: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108). {ECO:0000269|PubMed:12351790, ECO:0000269|PubMed:14654001, ECO:0000269|PubMed:14699129, ECO:0000269|PubMed:15062103, ECO:0000269|PubMed:15235793, ECO:0000269|PubMed:15239953, ECO:0000269|PubMed:15548592, ECO:0000269|PubMed:16732327, ECO:0000269|PubMed:23085020, ECO:0000269|PubMed:23891108, ECO:0000269|PubMed:25743205, ECO:0000269|PubMed:9315664}.

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
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000261598-2546111_70210921918.0RegionATPase activity domain
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000320876-2548111_70210922006.0RegionATPase activity domain
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117458_642458643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017458_642407643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117458_642458643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517261_403193643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517458_642193643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517261_403193643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517458_642193643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017458_642407643.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000261598+1461720_1847621918.0DomainSMC hinge
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000320876+1481720_1847622006.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000261598+1461720_1847621918.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000320876+1481720_1847622006.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000261598+1461720_1847621918.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000320876+1481720_1847622006.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000261598+1461720_1847621918.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000320876+1481720_1847622006.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000261598+7461720_18472911918.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000320876+7481720_18472912006.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000261598+7461720_18472911918.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000320876+7481720_18472912006.0DomainSMC hinge
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000261598-25461720_184710921918.0DomainSMC hinge
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000320876-25481720_184710922006.0DomainSMC hinge
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000261598+146111_702621918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000320876+148111_702622006.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000261598+146111_702621918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000320876+148111_702622006.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000261598+146111_702621918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000320876+148111_702622006.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000261598+146111_702621918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000320876+148111_702622006.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000261598+746111_7022911918.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000320876+748111_7022912006.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000261598+746111_7022911918.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000320876+748111_7022912006.0RegionATPase activity domain
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117261_403458643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017261_403407643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117261_403458643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217261_403488643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217458_642488643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017261_403407643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656259chr18:2601394ENST0000026159711171_250458643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2656260chr18:2599018ENST0000026159710171_250407643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2656260chr18:2601395ENST0000026159711171_250458643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2656260chr18:2606414ENST0000026159712171_250488643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2688745chr18:2585111ENST000002615975171_250193643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2688745chr18:2585112ENST000002615975171_250193643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2732490chr18:2599018ENST0000026159710171_250407643.0RegionNote=Nuclear localization


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Fusion Gene Sequence for SMCHD1-NDC80


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.
>84030_84030_1_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000261598_NDC80_chr18_2585111_ENST00000261597_length(transcript)=2473nt_BP=1062nt
GAATCGGTTCCCGGGTGATCCTCGCGCCTGCCGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGC
CGCCCCGGGAGCTGGAGCTGAAGGCGCCGCGCGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTT
TTCCCCAATATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACG
GTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGC
GCGTGTGTGTGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTT
GATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTC
TTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAA
TTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAA
CCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGG
CAAGGTGACTTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTT
GGGGGCAAGCAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTT
TCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAA
GAAAGCTCACCTTTATTTGATGATGGGCAGCCTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACC
ATAAAATGCTATGAGAGTTTTATGAGTGGTGCCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAAT
GTGGATGCTTTTAAGCTGGAATCATTAGAAGCAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAA
CCGAATCGTCTAGAGTCGTTGAGAAAACTGAAGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCT
CATTCAGCCATTCTTGACCAGAAATTAAATGGTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAAC
ACTCGACTACAGAATATCATTGACAACCAGAAGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACT
ATTAATAAATTAACCAAGGACCTGGAAGCTGAACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAA
ACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATT
AAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAA
GAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGT
GTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCC
AGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCT
GTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTT
GCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTC
TCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCAT

>84030_84030_1_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000261598_NDC80_chr18_2585111_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

--------------------------------------------------------------
>84030_84030_2_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000261598_NDC80_chr18_2585112_ENST00000261597_length(transcript)=2473nt_BP=1062nt
GAATCGGTTCCCGGGTGATCCTCGCGCCTGCCGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGC
CGCCCCGGGAGCTGGAGCTGAAGGCGCCGCGCGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTT
TTCCCCAATATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACG
GTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGC
GCGTGTGTGTGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTT
GATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTC
TTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAA
TTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAA
CCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGG
CAAGGTGACTTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTT
GGGGGCAAGCAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTT
TCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAA
GAAAGCTCACCTTTATTTGATGATGGGCAGCCTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACC
ATAAAATGCTATGAGAGTTTTATGAGTGGTGCCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAAT
GTGGATGCTTTTAAGCTGGAATCATTAGAAGCAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAA
CCGAATCGTCTAGAGTCGTTGAGAAAACTGAAGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCT
CATTCAGCCATTCTTGACCAGAAATTAAATGGTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAAC
ACTCGACTACAGAATATCATTGACAACCAGAAGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACT
ATTAATAAATTAACCAAGGACCTGGAAGCTGAACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAA
ACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATT
AAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAA
GAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGT
GTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCC
AGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCT
GTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTT
GCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTC
TCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCAT

>84030_84030_2_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000261598_NDC80_chr18_2585112_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

--------------------------------------------------------------
>84030_84030_3_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000320876_NDC80_chr18_2585111_ENST00000261597_length(transcript)=2622nt_BP=1211nt
GCGGCGCTGGTCGCGGGTCGCACCGTGAGGCTCGCGTGGGCGGCGATAGGCGCTGGGCCCGGGCCCGGTGAGGAGCGCGCCGCGCGTCCC
CTTCTCCTCAGGAGTGGCGGGCCGCGGAAGTGACGTGGTGCACGGGCAGGAGCGCGTTTGAATCGGTTCCCGGGTGATCCTCGCGCCTGC
CGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGCCGCCCCGGGAGCTGGAGCTGAAGGCGCCGCG
CGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTTTTCCCCAATATGGCAGCGGCGGACGGCGGCG
GGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGT
CCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAGACACTTGGCATTTCAC
CTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACTGTTAAAGATGGAGTCACCTTAT
ACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTG
GCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTC
GTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAG
GAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAGTGATCATTCAGGAT
ATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTTGTTGGAC
AATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAA
ATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAAGAAAGCTCACCTTTATTTGATGATGGGCAGC
CTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACCATAAAATGCTATGAGAGTTTTATGAGTGGTG
CCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAATGTGGATGCTTTTAAGCTGGAATCATTAGAAG
CAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAACCGAATCGTCTAGAGTCGTTGAGAAAACTGA
AGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCTCATTCAGCCATTCTTGACCAGAAATTAAATG
GTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAACACTCGACTACAGAATATCATTGACAACCAGA
AGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACTATTAATAAATTAACCAAGGACCTGGAAGCTG
AACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAAACACAATTAGCAGAGTATCACAAATTGGCTA
GAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCC
TTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAA
TGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGC
TGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGC
ACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAA
CCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATC
TTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGT
ATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCATGTATATATATCCATAGTGAATAAAATTGTCT

>84030_84030_3_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000320876_NDC80_chr18_2585111_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

--------------------------------------------------------------
>84030_84030_4_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000320876_NDC80_chr18_2585112_ENST00000261597_length(transcript)=2622nt_BP=1211nt
GCGGCGCTGGTCGCGGGTCGCACCGTGAGGCTCGCGTGGGCGGCGATAGGCGCTGGGCCCGGGCCCGGTGAGGAGCGCGCCGCGCGTCCC
CTTCTCCTCAGGAGTGGCGGGCCGCGGAAGTGACGTGGTGCACGGGCAGGAGCGCGTTTGAATCGGTTCCCGGGTGATCCTCGCGCCTGC
CGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGCCGCCCCGGGAGCTGGAGCTGAAGGCGCCGCG
CGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTTTTCCCCAATATGGCAGCGGCGGACGGCGGCG
GGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGT
CCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAGACACTTGGCATTTCAC
CTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACTGTTAAAGATGGAGTCACCTTAT
ACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTG
GCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTC
GTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAG
GAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAGTGATCATTCAGGAT
ATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTTGTTGGAC
AATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAA
ATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAAGAAAGCTCACCTTTATTTGATGATGGGCAGC
CTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACCATAAAATGCTATGAGAGTTTTATGAGTGGTG
CCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAATGTGGATGCTTTTAAGCTGGAATCATTAGAAG
CAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAACCGAATCGTCTAGAGTCGTTGAGAAAACTGA
AGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCTCATTCAGCCATTCTTGACCAGAAATTAAATG
GTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAACACTCGACTACAGAATATCATTGACAACCAGA
AGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACTATTAATAAATTAACCAAGGACCTGGAAGCTG
AACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAAACACAATTAGCAGAGTATCACAAATTGGCTA
GAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCC
TTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAA
TGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGC
TGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGC
ACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAA
CCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATC
TTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGT
ATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCATGTATATATATCCATAGTGAATAAAATTGTCT

>84030_84030_4_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000320876_NDC80_chr18_2585112_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

--------------------------------------------------------------
>84030_84030_5_SMCHD1-NDC80_SMCHD1_chr18_2732490_ENST00000261598_NDC80_chr18_2599018_ENST00000261597_length(transcript)=4234nt_BP=3465nt
GAATCGGTTCCCGGGTGATCCTCGCGCCTGCCGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGC
CGCCCCGGGAGCTGGAGCTGAAGGCGCCGCGCGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTT
TTCCCCAATATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACG
GTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGC
GCGTGTGTGTGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTT
GATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTC
TTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAA
TTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAA
CCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGG
CAAGGTGACTTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTT
GGGGGCAAGCAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTT
TCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCAC
ATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTA
CAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCA
AAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCT
AAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTT
GAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCA
AAATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAAT
GGACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAAT
AGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGAT
AAGAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCAT
GAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCA
ACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGC
ATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTA
TATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCA
AGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCG
TTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAG
CTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAA
AAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGA
CCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTT
GGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCA
AGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGT
CAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCT
CGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCA
GACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGT
TCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGT
TGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAA
AAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGA
GAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAATTGAAACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTA
AAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAA
TACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTG
GAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGAT
CTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTA
GAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACT
GAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAG
CAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAG
AAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCATGTATATATATCCATAGTGAATAAAATTGTCTCAGTAAAG

>84030_84030_5_SMCHD1-NDC80_SMCHD1_chr18_2732490_ENST00000261598_NDC80_chr18_2599018_ENST00000261597_length(amino acids)=1335AA_BP=1100
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHY
YIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDD
PCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLE
LKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLP
LFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAG
TPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNAD
TYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKG
PVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYV
VDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQ
MYDEGEREINITSALAEKIKIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALN
KKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLV

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>84030_84030_6_SMCHD1-NDC80_SMCHD1_chr18_2732490_ENST00000320876_NDC80_chr18_2599018_ENST00000261597_length(transcript)=4383nt_BP=3614nt
GCGGCGCTGGTCGCGGGTCGCACCGTGAGGCTCGCGTGGGCGGCGATAGGCGCTGGGCCCGGGCCCGGTGAGGAGCGCGCCGCGCGTCCC
CTTCTCCTCAGGAGTGGCGGGCCGCGGAAGTGACGTGGTGCACGGGCAGGAGCGCGTTTGAATCGGTTCCCGGGTGATCCTCGCGCCTGC
CGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGCCGCCCCGGGAGCTGGAGCTGAAGGCGCCGCG
CGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTTTTCCCCAATATGGCAGCGGCGGACGGCGGCG
GGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGT
CCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAGACACTTGGCATTTCAC
CTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACTGTTAAAGATGGAGTCACCTTAT
ACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTG
GCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTC
GTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAG
GAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAGTGATCATTCAGGAT
ATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTTGTTGGAC
AATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAA
ATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATC
ATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATT
ATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAG
TTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACG
ACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCC
GTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAAGATGAAGATGATGAAGATGATT
GTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAG
ACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACA
AATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATG
GACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACAC
TTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGA
TATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATG
ATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAA
AGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGC
CTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGG
AAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAA
ATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATT
ATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTG
TTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTC
AGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAA
CCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTC
TGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAA
TTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTG
TTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAA
TTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTA
TTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGG
TTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAG
CAGAAAAAATTAAAATTGAAACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCA
AAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGG
AACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGA
TAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGG
AAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAG
CTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGC
AACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAG
AATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAAT

>84030_84030_6_SMCHD1-NDC80_SMCHD1_chr18_2732490_ENST00000320876_NDC80_chr18_2599018_ENST00000261597_length(amino acids)=1335AA_BP=1100
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHY
YIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDD
PCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLE
LKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLP
LFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAG
TPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNAD
TYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKG
PVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYV
VDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQ
MYDEGEREINITSALAEKIKIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALN
KKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLV

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Fusion Gene PPI Analysis for SMCHD1-NDC80


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
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517251_618193.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517251_618193.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517361_547193.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517361_547193.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517251_431193.0643.0SMC1A
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517251_431193.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017446_642407.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517446_642193.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517446_642193.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017446_642407.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117251_618458.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017251_618407.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117251_618458.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217251_618488.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017251_618407.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117361_547458.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017361_547407.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117361_547458.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217361_547488.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017361_547407.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117128_251458.0643.0RB1
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017128_251407.0643.0RB1
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117128_251458.0643.0RB1
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217128_251488.0643.0RB1
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517128_251193.0643.0RB1
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517128_251193.0643.0RB1
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017128_251407.0643.0RB1
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117251_431458.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017251_431407.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117251_431458.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217251_431488.0643.0SMC1A
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017251_431407.0643.0SMC1A
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117446_642458.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117446_642458.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217446_642488.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2656259chr18:2601394ENST0000026159711171_445458.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2656260chr18:2599018ENST0000026159710171_445407.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2656260chr18:2601395ENST0000026159711171_445458.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2656260chr18:2606414ENST0000026159712171_445488.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2688745chr18:2585111ENST000002615975171_445193.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2688745chr18:2585112ENST000002615975171_445193.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2732490chr18:2599018ENST0000026159710171_445407.0643.0the N-terminus of CDCA1


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


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Related Drugs for SMCHD1-NDC80


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

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Related Diseases for SMCHD1-NDC80


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