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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:MKS1-SPAG9 (FusionGDB2 ID:HG54903TG9043)

Fusion Gene Summary for MKS1-SPAG9

check button Fusion gene summary
Fusion gene informationFusion gene name: MKS1-SPAG9
Fusion gene ID: hg54903tg9043
HgeneTgene
Gene symbol

MKS1

SPAG9

Gene ID

54903

9043

Gene nameMKS transition zone complex subunit 1sperm associated antigen 9
SynonymsBBS13|JBTS28|MES|MKS|POC12CT89|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|PHET|PIG6
Cytomap('MKS1')('SPAG9')

17q22

17q21.33

Type of geneprotein-codingprotein-coding
DescriptionMeckel syndrome type 1 proteinPOC12 centriolar protein homologC-Jun-amino-terminal kinase-interacting protein 4JNK interacting proteinJNK/SAPK-associated proteinMax-binding proteinc-Jun NH2-terminal kinase-associated leucine zipper proteincancer/testis antigen 89human lung cancer oncogene 6 proteinlung cancer
Modification date2020031320200315
UniProtAcc

Q9NXB0

.
Ensembl transtripts involved in fusion geneENST00000313863, ENST00000337050, 
ENST00000393119, ENST00000537529, 
ENST00000546108, 
Fusion gene scores* DoF score3 X 4 X 1=1215 X 14 X 6=1260
# samples 316
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(16/1260*10)=-2.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MKS1 [Title/Abstract] AND SPAG9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMKS1(56288020)-SPAG9(49109083), # samples:3
Anticipated loss of major functional domain due to fusion event.MKS1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MKS1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MKS1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MKS1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MKS1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MKS1-SPAG9 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
TgeneSPAG9

GO:0042147

retrograde transport, endosome to Golgi

19056739


check buttonFusion gene breakpoints across MKS1 (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 SPAG9 (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
* 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-A2-A1FW-01AMKS1chr17

56288020

-SPAG9chr17

49109083

-
ChimerDB4BRCATCGA-A2-A1FW-01AMKS1chr17

56289739

-SPAG9chr17

49109083

-


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Fusion Gene ORF analysis for MKS1-SPAG9

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
5CDS-intronENST00000313863ENST00000357122MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000357122MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000505279MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000505279MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000509724MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000509724MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000510283MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000313863ENST00000510283MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000357122MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000357122MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000505279MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000505279MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000509724MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000509724MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000510283MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000337050ENST00000510283MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000357122MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000357122MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000505279MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000505279MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000509724MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000509724MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000510283MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000393119ENST00000510283MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000357122MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000357122MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000505279MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000505279MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000509724MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000509724MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000510283MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000537529ENST00000510283MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000357122MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000357122MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000505279MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000505279MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000509724MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000509724MKS1chr17

56289739

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000510283MKS1chr17

56288020

-SPAG9chr17

49109083

-
5CDS-intronENST00000546108ENST00000510283MKS1chr17

56289739

-SPAG9chr17

49109083

-
Frame-shiftENST00000313863ENST00000262013MKS1chr17

56288020

-SPAG9chr17

49109083

-
Frame-shiftENST00000337050ENST00000262013MKS1chr17

56288020

-SPAG9chr17

49109083

-
Frame-shiftENST00000393119ENST00000262013MKS1chr17

56288020

-SPAG9chr17

49109083

-
Frame-shiftENST00000537529ENST00000262013MKS1chr17

56288020

-SPAG9chr17

49109083

-
Frame-shiftENST00000546108ENST00000262013MKS1chr17

56289739

-SPAG9chr17

49109083

-
In-frameENST00000313863ENST00000262013MKS1chr17

56289739

-SPAG9chr17

49109083

-
In-frameENST00000337050ENST00000262013MKS1chr17

56289739

-SPAG9chr17

49109083

-
In-frameENST00000393119ENST00000262013MKS1chr17

56289739

-SPAG9chr17

49109083

-
In-frameENST00000537529ENST00000262013MKS1chr17

56289739

-SPAG9chr17

49109083

-
In-frameENST00000546108ENST00000262013MKS1chr17

56288020

-SPAG9chr17

49109083

-

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)
ENST00000546108MKS1chr1756288020-ENST00000262013SPAG9chr1749109083-825593292641561076
ENST00000393119MKS1chr1756289739-ENST00000262013SPAG9chr1749109083-83139907542141379
ENST00000313863MKS1chr1756289739-ENST00000262013SPAG9chr1749109083-8240917241411379
ENST00000337050MKS1chr1756289739-ENST00000262013SPAG9chr1749109083-82489251041491379
ENST00000537529MKS1chr1756289739-ENST00000262013SPAG9chr1749109083-83029799142031370

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
ENST00000546108ENST00000262013MKS1chr1756288020-SPAG9chr1749109083-0.0004222380.9995778
ENST00000393119ENST00000262013MKS1chr1756289739-SPAG9chr1749109083-8.06E-050.9999194
ENST00000313863ENST00000262013MKS1chr1756289739-SPAG9chr1749109083-7.40E-050.999926
ENST00000337050ENST00000262013MKS1chr1756289739-SPAG9chr1749109083-7.48E-050.99992526
ENST00000537529ENST00000262013MKS1chr1756289739-SPAG9chr1749109083-8.19E-050.9999181

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Fusion Genomic Features for MKS1-SPAG9


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)

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

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Fusion Protein Features for MKS1-SPAG9


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/chr17:56288020/chr17:49109083)
- 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
MKS1

Q9NXB0

.
FUNCTION: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. {ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853, ECO:0000269|PubMed:26490104}.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
TgeneSPAG9chr17:56288020chr17:49109083ENST00000262013430408_5342471322.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56288020chr17:49109083ENST00000262013430724_7582471322.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000357122029408_53401308.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56288020chr17:49109083ENST0000035712202966_16601308.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000357122029724_75801308.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000505279030408_53401312.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56288020chr17:49109083ENST0000050527903066_16601312.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000505279030724_75801312.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000510283027408_53401178.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56288020chr17:49109083ENST0000051028302766_16601178.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000510283027724_75801178.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000262013430408_5342471322.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56289739chr17:49109083ENST00000262013430724_7582471322.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000357122029408_53401308.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56289739chr17:49109083ENST0000035712202966_16601308.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000357122029724_75801308.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000505279030408_53401312.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56289739chr17:49109083ENST0000050527903066_16601312.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000505279030724_75801312.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000510283027408_53401178.0Coiled coilOntology_term=ECO:0000269
TgeneSPAG9chr17:56289739chr17:49109083ENST0000051028302766_16601178.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST00000510283027724_75801178.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST00000262013430500_5712471322.0DomainRH2
TgeneSPAG9chr17:56288020chr17:49109083ENST00000357122029500_57101308.0DomainRH2
TgeneSPAG9chr17:56288020chr17:49109083ENST000003571220297_9501308.0DomainRH1
TgeneSPAG9chr17:56288020chr17:49109083ENST00000505279030500_57101312.0DomainRH2
TgeneSPAG9chr17:56288020chr17:49109083ENST000005052790307_9501312.0DomainRH1
TgeneSPAG9chr17:56288020chr17:49109083ENST00000510283027500_57101178.0DomainRH2
TgeneSPAG9chr17:56288020chr17:49109083ENST000005102830277_9501178.0DomainRH1
TgeneSPAG9chr17:56289739chr17:49109083ENST00000262013430500_5712471322.0DomainRH2
TgeneSPAG9chr17:56289739chr17:49109083ENST00000357122029500_57101308.0DomainRH2
TgeneSPAG9chr17:56289739chr17:49109083ENST000003571220297_9501308.0DomainRH1
TgeneSPAG9chr17:56289739chr17:49109083ENST00000505279030500_57101312.0DomainRH2
TgeneSPAG9chr17:56289739chr17:49109083ENST000005052790307_9501312.0DomainRH1
TgeneSPAG9chr17:56289739chr17:49109083ENST00000510283027500_57101178.0DomainRH2
TgeneSPAG9chr17:56289739chr17:49109083ENST000005102830277_9501178.0DomainRH1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMKS1chr17:56288020chr17:49109083ENST00000393119-1118311_439341560.0DomainC2 B9-type
HgeneMKS1chr17:56288020chr17:49109083ENST00000537529-1118311_439331550.0DomainC2 B9-type
HgeneMKS1chr17:56289739chr17:49109083ENST00000393119-918311_439305560.0DomainC2 B9-type
HgeneMKS1chr17:56289739chr17:49109083ENST00000537529-918311_439295550.0DomainC2 B9-type
TgeneSPAG9chr17:56288020chr17:49109083ENST0000026201343066_1662471322.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56289739chr17:49109083ENST0000026201343066_1662471322.0Coiled coilOntology_term=ECO:0000255
TgeneSPAG9chr17:56288020chr17:49109083ENST000002620134307_952471322.0DomainRH1
TgeneSPAG9chr17:56289739chr17:49109083ENST000002620134307_952471322.0DomainRH1


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Fusion Gene Sequence for MKS1-SPAG9


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.
>54133_54133_1_MKS1-SPAG9_MKS1_chr17_56288020_ENST00000546108_SPAG9_chr17_49109083_ENST00000262013_length(transcript)=8255nt_BP=932nt
GCTGTCATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTC
CACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGG
CCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTT
GAAGTAGATCTGTACCAAAATGAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTCGGGT
GGCAAGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGGGAGGGCGGCATCCTCAAGTCACGCAT
CGTCACCTGGGAGCCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGG
GCCCTATAAAAAGCTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGCCTGA
CTTCACGGGCCTCAAAGGACCCTACAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCA
CGCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCAC
CGACTTTGAGATGACTGTCCCAGGTGCCCTCCGGCTCTTTGTAAATGGAGAGGTCGTTTCAGCCCAAGGCTATGAGTATGACAATCTCTA
CGTCCACTTCTTTGTAGAATTGCCAACTGCTCGTCAGCAATAGTCCTGAACCTCAGAAGGCTGTAGAACAGGAGGATGAGCTTTCTGATG
TTAGCCAAGGCGGATCTAAAGCTACCACTCCAGCATCAACAGCTAATTCAGATGTGGCAACAATTCCTACTGATACTCCCTTAAAGGAAG
AAAACGAAGGATTTGTGAAGGTTACAGATGCGCCAAATAAATCAGAGATAAGCAAACACATTGAAGTACAGGTAGCCCAGGAAACTAGAA
ATGTATCTACTGGCTCTGCTGAAAATGAAGAAAAGTCAGAAGTTCAAGCAATCATCGAATCTACTCCTGAGCTGGATATGGACAAAGATC
TCAGTGGATATAAAGGTTCAAGCACTCCCACCAAAGGCATAGAGAACAAAGCTTTTGATCGCAATACAGAATCTCTCTTTGAAGAACTGT
CTTCAGCTGGCTCAGGCCTAATAGGAGATGTGGATGAAGGAGCAGATTTACTAGGAATGGGTCGGGAAGTTGAGAATCTTATATTAGAAA
ATACACAACTGTTGGAAACCAAAAATGCTTTGAACATAGTGAAGAATGATTTGATAGCAAAAGTGGATGAACTGACCTGTGAGAAAGATG
TGCTGCAAGGGGAATTGGAGGCTGTGAAGCAAGCCAAACTGAAACTAGAGGAAAAGAACAGAGAATTGGAGGAAGAGCTTAGGAAAGCTC
GGGCAGAAGCTGAAGATGCAAGGCAAAAAGCAAAAGATGACGATGATAGTGATATTCCCACAGCCCAGAGGAAACGGTTTACTAGAGTAG
AAATGGCCCGTGTTCTCATGGAGCGAAACCAGTATAAAGAGAGATTGATGGAGCTTCAGGAAGCTGTTCGATGGACAGAGATGATTCGGG
CATCACGAGAAAATCCAGCCATGCAGGAAAAAAAAAGGTCAAGCATTTGGCAGTTTTTCAGCCGACTTTTCAGCTCCTCAAGTAACACGA
CTAAGAAGCCTGAACCACCTGTTAATCTGAAGTACAATGCACCCACGTCTCATGTTACTCCGTCCGTCAAGAAAAGAAGCAGCACCTTAT
CTCAGCTCCCTGGGGATAAGTCCAAAGCCTTTGATTTCCTTAGTGAAGAAACTGAAGCTAGTTTAGCCTCACGCAGAGAACAAAAGAGAG
AGCAGTATCGTCAGGTAAAAGCACATGTTCAGAAGGAAGACGGTAGAGTGCAGGCTTTTGGCTGGAGTCTGCCTCAGAAGTACAAACAGG
TAACCAATGGTCAAGGTGAAAATAAGATGAAAAATTTACCTGTGCCTGTCTATCTCAGACCTCTGGATGAAAAAGATACATCAATGAAGC
TGTGGTGTGCTGTTGGAGTCAATTTATCTGGTGGGAAGACCAGAGATGGTGGTTCTGTTGTTGGAGCAAGTGTATTTTACAAGGATGTTG
CTGGTTTGGATACAGAAGGCAGTAAACAGCGAAGTGCCTCTCAGAGTAGTTTAGATAAGTTAGATCAGGAACTTAAGGAACAGCAGAAGG
AGTTAAAAAATCAAGAAGAATTATCCAGTCTAGTTTGGATCTGTACCAGCACTCATTCGGCTACAAAAGTTCTTATTATTGATGCTGTTC
AACCTGGCAACATCCTAGACAGTTTCACTGTTTGCAACTCTCATGTTCTGTGCATTGCAAGTGTGCCAGGTGCACGAGAAACAGACTACC
CTGCAGGAGAAGATCTTTCAGAATCTGGTCAGGTAGACAAAGCATCTTTATGTGGAAGTATGACAAGCAACAGCTCAGCAGAGACAGACA
GCCTGTTAGGAGGCATCACAGTGGTTGGTTGTTCTGCAGAAGGTGTGACGGGAGCTGCCACTTCCCCTAGTACAAATGGTGCTTCTCCAG
TGATGGATAAACCACCAGAAATGGAAGCAGAAAATAGTGAGGTTGATGAAAATGTTCCAACAGCAGAAGAAGCAACTGAAGCTACAGAAG
GGAATGCGGGGTCAGCTGAAGACACAGTGGACATCTCCCAAACTGGCGTCTACACAGAGCATGTCTTTACAGATCCTTTGGGAGTTCAGA
TCCCAGAAGACCTCTCCCCAGTGTATCAGTCGAGCAATGACTCAGATGCATATAAAGATCAAATATCAGTACTGCCAAATGAACAAGACT
TGGTGAGAGAAGAAGCCCAGAAAATGAGTAGTCTTTTACCAACTATGTGGCTTGGAGCTCAAAATGGCTGTTTGTATGTCCATTCATCTG
TAGCCCAGTGGAGGAAATGTCTCCATTCCATTAAACTTAAAGATTCGATTCTCAGTATTGTACACGTGAAGGGAATCGTGTTAGTAGCCC
TGGCTGACGGCACCCTTGCAATCTTTCACAGAGGAGTGGATGGGCAGTGGGATTTGTCAAACTATCACCTCTTAGACCTTGGACGGCCTC
ATCATTCCATCCGTTGCATGACTGTGGTACATGACAAAGTCTGGTGTGGCTATAGGAACAAAATCTATGTGGTGCAGCCAAAGGCCATGA
AAATAGAGAAATCTTTTGATGCACATCCCAGGAAGGAGAGCCAAGTGCGACAGCTTGCGTGGGTGGGGGATGGCGTGTGGGTCTCCATTC
GCTTGGATTCTACGCTCCGTCTCTATCATGCACACACTTATCAACATCTACAGGATGTGGACATTGAGCCTTATGTAAGCAAAATGTTAG
GTACTGGAAAACTGGGCTTCTCTTTTGTGAGAATTACAGCTCTTATGGTGTCTTGTAATCGTTTGTGGGTGGGGACAGGAAATGGTGTCA
TTATCTCCATCCCATTGACAGAAACAAATAAAACCTCAGGTGTACCAGGAAATCGTCCTGGAAGTGTAATCCGTGTATATGGTGATGAAA
ACAGTGATAAAGTGACTCCAGGGACATTTATACCCTATTGTTCAATGGCACATGCACAGCTTTGCTTCCATGGGCACCGGGATGCTGTGA
AATTCTTTGTGGCAGTCCCAGGTCAAGTCATCAGCCCACAAAGTAGCAGTAGTGGCACGGATCTGACGGGTGACAAAGCAGGGCCATCTG
CACAGGAGCCTGGTAGTCAGACGCCCTTGAAGTCTATGCTTGTCATCAGTGGAGGAGAGGGCTACATCGACTTCCGAATGGGTGATGAAG
GTGGAGAATCAGAACTTCTTGGAGAGGATCTTCCACTTGAACCTTCTGTCACCAAAGCAGAAAGGAGTCACTTGATAGTGTGGCAAGTGA
TGTATGGCAATGAGTGAGCCCATGGGAAACAGGTGGAGATGGGGAAGCCGTCTCTTCTGCATGGTTTATTTTCCCTCTATCCTTTTATTT
AATGCTCTTTTGTGAGATAAGTTTCACCACATAATGTGTGAGCATTTTTTCCTGTTAACTTTATATTACAAAATCCGTTCTACCATAACA
ATACAGAGGAACTAGCTGTGTTACTGCACCAGTGTTATAGGTAACTTCAGTATATTATGAACAAATCAAAGAATGTTTACTTCCTGCAAA
CTGGTGAATTATAGAAAGCAATCCAGATGTGGTTTACTCTGCCACAGTCTAATGTCATTCACTTCATTTGATGGGGTCACTTGTTAGCTG
TCACTAATAATGGAATTAATGGGAAACACTTGATAAATGAAACTGTACCGTTAAATACAATAGCTGAGTTTTCCCCAGTGTATTGTAAAA
TTGACACACACTAATACAAGATGGATTATCAGGATGTATCTAAATGTCCCGAGAGGGTTAAAAGCTAACTGTAAATTACTTTAACTTTCA
CTTTCAAATCTGACAAATCTTGTTTATATGGTATATAAAACTTTGTTTTCATCAGATTTGGGGGGGTTTTATATTAAAGAAATTAAGACT
ACACTATTTAAATAAACGTTTCCTGTTTCTGACTTATTAGAGCTCTAAAGTTTATGAGGCCTACTTCTCTGAATATTCTGATGGGTTTTT
TTTGAGACCAGTCTCATTTTCATACTGACATGTCTGAAAGATTTATTATTTATAAAGCTTAGGACATACTCTGGGAAGCTTAGAAGATAC
TTCAGCACTGGGAGGATTTTTTAAAGGAAATGTGTTTTGTATTTCTTGTACCAGAGAATGGTGATGTTGATTGAGTTTTTTCCATGTAAA
AAATGTACTTGTTTGCCAAATGTTCCTAGATTGCTCTTAACCTGTTAATACAAGTAAAACTGTAGTGGGGATGGAGTCTGGCCTAAGTAC
AGAATGAGGGATTTAATTAGAAAAGTTATTTTCTTTTGTTCTGTATCAAACTGCAGAACAGCTATATACTTGGTATTTTGTACGTGAATA
ACGTTTTAGCTTTTGTGCCCTTTTGAGCTTGAAGGGTTATCCTCAAAGGGGAAAACTATGAAGGGGAAGAAGACAAACCTAAGATACCAT
AAAGTAAAGGTTGACATTACATATTTTCATTCACAATGCCCATTAAAAAAAAAAAATAGGTTGGGCATGGTGGCTCACGCCTGTAATCCC
AACACTTTAGGAGGCTGAGGCAGATGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACCAA
AAAAAAAAAACAAAATAAATTAACCGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGACCTGGG
CCCAGGAGGTGGAGGTTGCAGTGAGCCTTGATAGCACCACTGCACTCCAGCCTGGGTGACGGAGCAAGACCCTGTCTCAAAACAGACAAA
CAAGCAAAAAATAGATTAAAGTCTGGATTTCACTGATTTTCTTGCTTAATAAGTTTTTTAAAACCACGATGCTGCAATTTTTTCCCTCTC
AAGCTTCTTGAAAATGTGTGATTTACCCTTTTTTATCTATTACTCTAGGCAAAGCTAAATATGATTTTTTTTTTTTTTTTTGAGACGGAG
TCTGGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCTCAGGTTCAAGTAGTTCTCCTGCCTC
AGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCCTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGG
CCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCTACCCGCCTTGGCCTCCCGAAGTGCTTGAATTACAGGCGTGAGCCCCCGCGCCGG
TCCGAAGCAAAGCTAAATGTAATTTTATGTACTGTTTTAACAGTATAAACCTATGGGATAAAGGCCCCCAATCATCAGAAGGACTACTGA
AAAGAAAAGAAAGCAAACGTAGATGTCAAATTGTCTAAACATTCTTAAGTACCACTGATTTTTTTTTTCTGGACTATTATACAAAGATGT
CTGTAAAAAGTATACCAGTGGCTTTTATGCATATACACGATTAGGCTAGATTGTGAAGTACATGGGATTTCATGAGCCAGAGGAGGCATT
TGGATCCATTGGGCCACATGTGACTATAAGCACATTGTGTACACAATAAAATTGTAGCCACTCATGTATTAAAACTGTTTTGGTAAAAGC
TGTATTAAAAGAATAATTTTTTGCTTGAGCTACTTAGTCACTTTTTTGCAGGGCACCAAAATGTAGGCTACTTTTCCATAGCTTGTTTGC
TATGTTTTTATTTCATCTTAAATCTGAGCCATTTTTGGCAATATCTTTTAAAAAATCATTATTAAACATTTATTGGAAATGTTGTATAGA
TTCACAAGAAAGAGACACCAAAGTGTTTGGGAATTTTAATCCCAAGAAGTAAACATCCCAGAGTCAGATCCCATTTGCTGTTGTTCAGCC
ATGTTTGTATGACTGAATGTAATTTAGGAAATCAGGAGTTAGAGATGAAAAATACAAACATGTCAAATGGTTGTAATTGCTTTTTTTGAA
CTTACTGGCTTTAACTTAAGTAATATAGGTGTGTAGTTGTTTTATCTAAAGATGTCAGATTATCTGTGGCCCTGTTAATTAACTGCAGGG
ACCAGAGAGAGGACAAAAATGCCTGTATAATTTGCTTTAAAGGCTTGTCCTTATGTTTGTAATTTCAGTTAAATATTTTCTACAGATTGC
TTCACTTCCCCTTTCCCCCAATAACAAGTTCATATTCTTGTAATGTTTACTTTGGTCAACGTGGTAATTTTTGGAAGAAAATGCCAAAAT
GTAAGCTTCTCACAAGCAGCAAAGGAATGTAACTGCCTGTAGCTACCACATCAAGGGAGAGAAGAGGCTTGCGTACTTTGGGTTGATCTC
ACTGTACAAAAAAAGTGTACCCCTATTGGAAGAAATAAGGAATACTTGAAGGTTTCTCCTTTTTTTACACTTGAGTCATGTGCAAGGTTG
AACCATATGAAATTGCCAGTGTTCAACCATTGCTGATCTGCAAAAGCGACAATATCATATGCCTCAACCTAACACTTACTCTTAAATGCA
GGTTAAAATCTCTGTGAGGCAAAGGGATAATATTCTCTAGGAACTCACTTTTGAGAGTATTTTTCTCTAACCCATGTGGATCTAAATTTT
AAAAATAGGAATGAATCTCTTAATTGCAGCTTGTGGAGAGTATAAAACATTTTGAGCACAATATGCAGCACATAACTTTTCAGATTGTGT
TTGCATAGAAAAGGTTAAAATCAATTCTTTCAGTTACTGTATTGTTCATTTCTTGTAAAGGTCTTCCTACATTTGAGACGAGACCCTTTA
ACATAGGCTGCCTTAGTAACAAAATAAAACAGATGTGTCATAATATTAACTGTCCTAAAGAACATGTGTCTTGCAAATGCCATGGAACTG
AATATTTATTTCCTTGTGAGTATTATGACCGTTACCAAAGGACTCAACCAGATTTAGGGCTCTTCTTAATTGATCATGTTCAGAAAGGGA
CTCATTTGGTCCCACTTTGTAACATGGGAAGAGTAGAAGAGAAAATTAAATGTGGAAATCATAAATGCTTTTCTAACAGGGTTATGCTAT
TCTGTAACACTAAATGTCTGTCTTTTCTCTTAAAAGATTAAGTTTTATTAATTTTGTCATACATTTCTCTATTTGAATATATCTTAACCA
TTTTATGTTCCAAATTCGTTTTTTGTCCAAGACATTCTATCAGAATTTTACTTGCCTCTATAATCTGAAAAATGGGTTCTAGAATGTCCC
ACTTGCTGTCTCTTAGAGGCTGAGCTTCATTTCTATGAGCAAAGAGCTCATTTAGCAATGTAGTTATTTCAGTATTTATTTCTATTATGG

>54133_54133_1_MKS1-SPAG9_MKS1_chr17_56288020_ENST00000546108_SPAG9_chr17_49109083_ENST00000262013_length(amino acids)=1076AA_BP=2
MLVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEGFVKVTDAPNKSEISKHIEVQVAQETRNVSTGSAEN
EEKSEVQAIIESTPELDMDKDLSGYKGSSTPTKGIENKAFDRNTESLFEELSSAGSGLIGDVDEGADLLGMGREVENLILENTQLLETKN
ALNIVKNDLIAKVDELTCEKDVLQGELEAVKQAKLKLEEKNRELEEELRKARAEAEDARQKAKDDDDSDIPTAQRKRFTRVEMARVLMER
NQYKERLMELQEAVRWTEMIRASRENPAMQEKKRSSIWQFFSRLFSSSSNTTKKPEPPVNLKYNAPTSHVTPSVKKRSSTLSQLPGDKSK
AFDFLSEETEASLASRREQKREQYRQVKAHVQKEDGRVQAFGWSLPQKYKQVTNGQGENKMKNLPVPVYLRPLDEKDTSMKLWCAVGVNL
SGGKTRDGGSVVGASVFYKDVAGLDTEGSKQRSASQSSLDKLDQELKEQQKELKNQEELSSLVWICTSTHSATKVLIIDAVQPGNILDSF
TVCNSHVLCIASVPGARETDYPAGEDLSESGQVDKASLCGSMTSNSSAETDSLLGGITVVGCSAEGVTGAATSPSTNGASPVMDKPPEME
AENSEVDENVPTAEEATEATEGNAGSAEDTVDISQTGVYTEHVFTDPLGVQIPEDLSPVYQSSNDSDAYKDQISVLPNEQDLVREEAQKM
SSLLPTMWLGAQNGCLYVHSSVAQWRKCLHSIKLKDSILSIVHVKGIVLVALADGTLAIFHRGVDGQWDLSNYHLLDLGRPHHSIRCMTV
VHDKVWCGYRNKIYVVQPKAMKIEKSFDAHPRKESQVRQLAWVGDGVWVSIRLDSTLRLYHAHTYQHLQDVDIEPYVSKMLGTGKLGFSF
VRITALMVSCNRLWVGTGNGVIISIPLTETNKTSGVPGNRPGSVIRVYGDENSDKVTPGTFIPYCSMAHAQLCFHGHRDAVKFFVAVPGQ

--------------------------------------------------------------
>54133_54133_2_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000313863_SPAG9_chr17_49109083_ENST00000262013_length(transcript)=8240nt_BP=917nt
TCATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTCCACC
TGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTC
AGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTTGAAG
TAGATCTGTACCAAAATGAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTCGGGTGGCA
AGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGCAGCCAGCG
AGGTGCCTTCATTCTTGGTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCTCAAGTCAC
GCATCGTCACCTGGGAGCCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACC
TGGGGCCCTATAAAAAGCTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGC
CTGACTTCACGGGCCTCAAAGGACCCTACAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCC
CCCACGCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAG
GCACCGACTTTGAGATGGTCAGCAATAGTCCTGAACCTCAGAAGGCTGTAGAACAGGAGGATGAGCTTTCTGATGTTAGCCAAGGCGGAT
CTAAAGCTACCACTCCAGCATCAACAGCTAATTCAGATGTGGCAACAATTCCTACTGATACTCCCTTAAAGGAAGAAAACGAAGGATTTG
TGAAGGTTACAGATGCGCCAAATAAATCAGAGATAAGCAAACACATTGAAGTACAGGTAGCCCAGGAAACTAGAAATGTATCTACTGGCT
CTGCTGAAAATGAAGAAAAGTCAGAAGTTCAAGCAATCATCGAATCTACTCCTGAGCTGGATATGGACAAAGATCTCAGTGGATATAAAG
GTTCAAGCACTCCCACCAAAGGCATAGAGAACAAAGCTTTTGATCGCAATACAGAATCTCTCTTTGAAGAACTGTCTTCAGCTGGCTCAG
GCCTAATAGGAGATGTGGATGAAGGAGCAGATTTACTAGGAATGGGTCGGGAAGTTGAGAATCTTATATTAGAAAATACACAACTGTTGG
AAACCAAAAATGCTTTGAACATAGTGAAGAATGATTTGATAGCAAAAGTGGATGAACTGACCTGTGAGAAAGATGTGCTGCAAGGGGAAT
TGGAGGCTGTGAAGCAAGCCAAACTGAAACTAGAGGAAAAGAACAGAGAATTGGAGGAAGAGCTTAGGAAAGCTCGGGCAGAAGCTGAAG
ATGCAAGGCAAAAAGCAAAAGATGACGATGATAGTGATATTCCCACAGCCCAGAGGAAACGGTTTACTAGAGTAGAAATGGCCCGTGTTC
TCATGGAGCGAAACCAGTATAAAGAGAGATTGATGGAGCTTCAGGAAGCTGTTCGATGGACAGAGATGATTCGGGCATCACGAGAAAATC
CAGCCATGCAGGAAAAAAAAAGGTCAAGCATTTGGCAGTTTTTCAGCCGACTTTTCAGCTCCTCAAGTAACACGACTAAGAAGCCTGAAC
CACCTGTTAATCTGAAGTACAATGCACCCACGTCTCATGTTACTCCGTCCGTCAAGAAAAGAAGCAGCACCTTATCTCAGCTCCCTGGGG
ATAAGTCCAAAGCCTTTGATTTCCTTAGTGAAGAAACTGAAGCTAGTTTAGCCTCACGCAGAGAACAAAAGAGAGAGCAGTATCGTCAGG
TAAAAGCACATGTTCAGAAGGAAGACGGTAGAGTGCAGGCTTTTGGCTGGAGTCTGCCTCAGAAGTACAAACAGGTAACCAATGGTCAAG
GTGAAAATAAGATGAAAAATTTACCTGTGCCTGTCTATCTCAGACCTCTGGATGAAAAAGATACATCAATGAAGCTGTGGTGTGCTGTTG
GAGTCAATTTATCTGGTGGGAAGACCAGAGATGGTGGTTCTGTTGTTGGAGCAAGTGTATTTTACAAGGATGTTGCTGGTTTGGATACAG
AAGGCAGTAAACAGCGAAGTGCCTCTCAGAGTAGTTTAGATAAGTTAGATCAGGAACTTAAGGAACAGCAGAAGGAGTTAAAAAATCAAG
AAGAATTATCCAGTCTAGTTTGGATCTGTACCAGCACTCATTCGGCTACAAAAGTTCTTATTATTGATGCTGTTCAACCTGGCAACATCC
TAGACAGTTTCACTGTTTGCAACTCTCATGTTCTGTGCATTGCAAGTGTGCCAGGTGCACGAGAAACAGACTACCCTGCAGGAGAAGATC
TTTCAGAATCTGGTCAGGTAGACAAAGCATCTTTATGTGGAAGTATGACAAGCAACAGCTCAGCAGAGACAGACAGCCTGTTAGGAGGCA
TCACAGTGGTTGGTTGTTCTGCAGAAGGTGTGACGGGAGCTGCCACTTCCCCTAGTACAAATGGTGCTTCTCCAGTGATGGATAAACCAC
CAGAAATGGAAGCAGAAAATAGTGAGGTTGATGAAAATGTTCCAACAGCAGAAGAAGCAACTGAAGCTACAGAAGGGAATGCGGGGTCAG
CTGAAGACACAGTGGACATCTCCCAAACTGGCGTCTACACAGAGCATGTCTTTACAGATCCTTTGGGAGTTCAGATCCCAGAAGACCTCT
CCCCAGTGTATCAGTCGAGCAATGACTCAGATGCATATAAAGATCAAATATCAGTACTGCCAAATGAACAAGACTTGGTGAGAGAAGAAG
CCCAGAAAATGAGTAGTCTTTTACCAACTATGTGGCTTGGAGCTCAAAATGGCTGTTTGTATGTCCATTCATCTGTAGCCCAGTGGAGGA
AATGTCTCCATTCCATTAAACTTAAAGATTCGATTCTCAGTATTGTACACGTGAAGGGAATCGTGTTAGTAGCCCTGGCTGACGGCACCC
TTGCAATCTTTCACAGAGGAGTGGATGGGCAGTGGGATTTGTCAAACTATCACCTCTTAGACCTTGGACGGCCTCATCATTCCATCCGTT
GCATGACTGTGGTACATGACAAAGTCTGGTGTGGCTATAGGAACAAAATCTATGTGGTGCAGCCAAAGGCCATGAAAATAGAGAAATCTT
TTGATGCACATCCCAGGAAGGAGAGCCAAGTGCGACAGCTTGCGTGGGTGGGGGATGGCGTGTGGGTCTCCATTCGCTTGGATTCTACGC
TCCGTCTCTATCATGCACACACTTATCAACATCTACAGGATGTGGACATTGAGCCTTATGTAAGCAAAATGTTAGGTACTGGAAAACTGG
GCTTCTCTTTTGTGAGAATTACAGCTCTTATGGTGTCTTGTAATCGTTTGTGGGTGGGGACAGGAAATGGTGTCATTATCTCCATCCCAT
TGACAGAAACAAATAAAACCTCAGGTGTACCAGGAAATCGTCCTGGAAGTGTAATCCGTGTATATGGTGATGAAAACAGTGATAAAGTGA
CTCCAGGGACATTTATACCCTATTGTTCAATGGCACATGCACAGCTTTGCTTCCATGGGCACCGGGATGCTGTGAAATTCTTTGTGGCAG
TCCCAGGTCAAGTCATCAGCCCACAAAGTAGCAGTAGTGGCACGGATCTGACGGGTGACAAAGCAGGGCCATCTGCACAGGAGCCTGGTA
GTCAGACGCCCTTGAAGTCTATGCTTGTCATCAGTGGAGGAGAGGGCTACATCGACTTCCGAATGGGTGATGAAGGTGGAGAATCAGAAC
TTCTTGGAGAGGATCTTCCACTTGAACCTTCTGTCACCAAAGCAGAAAGGAGTCACTTGATAGTGTGGCAAGTGATGTATGGCAATGAGT
GAGCCCATGGGAAACAGGTGGAGATGGGGAAGCCGTCTCTTCTGCATGGTTTATTTTCCCTCTATCCTTTTATTTAATGCTCTTTTGTGA
GATAAGTTTCACCACATAATGTGTGAGCATTTTTTCCTGTTAACTTTATATTACAAAATCCGTTCTACCATAACAATACAGAGGAACTAG
CTGTGTTACTGCACCAGTGTTATAGGTAACTTCAGTATATTATGAACAAATCAAAGAATGTTTACTTCCTGCAAACTGGTGAATTATAGA
AAGCAATCCAGATGTGGTTTACTCTGCCACAGTCTAATGTCATTCACTTCATTTGATGGGGTCACTTGTTAGCTGTCACTAATAATGGAA
TTAATGGGAAACACTTGATAAATGAAACTGTACCGTTAAATACAATAGCTGAGTTTTCCCCAGTGTATTGTAAAATTGACACACACTAAT
ACAAGATGGATTATCAGGATGTATCTAAATGTCCCGAGAGGGTTAAAAGCTAACTGTAAATTACTTTAACTTTCACTTTCAAATCTGACA
AATCTTGTTTATATGGTATATAAAACTTTGTTTTCATCAGATTTGGGGGGGTTTTATATTAAAGAAATTAAGACTACACTATTTAAATAA
ACGTTTCCTGTTTCTGACTTATTAGAGCTCTAAAGTTTATGAGGCCTACTTCTCTGAATATTCTGATGGGTTTTTTTTGAGACCAGTCTC
ATTTTCATACTGACATGTCTGAAAGATTTATTATTTATAAAGCTTAGGACATACTCTGGGAAGCTTAGAAGATACTTCAGCACTGGGAGG
ATTTTTTAAAGGAAATGTGTTTTGTATTTCTTGTACCAGAGAATGGTGATGTTGATTGAGTTTTTTCCATGTAAAAAATGTACTTGTTTG
CCAAATGTTCCTAGATTGCTCTTAACCTGTTAATACAAGTAAAACTGTAGTGGGGATGGAGTCTGGCCTAAGTACAGAATGAGGGATTTA
ATTAGAAAAGTTATTTTCTTTTGTTCTGTATCAAACTGCAGAACAGCTATATACTTGGTATTTTGTACGTGAATAACGTTTTAGCTTTTG
TGCCCTTTTGAGCTTGAAGGGTTATCCTCAAAGGGGAAAACTATGAAGGGGAAGAAGACAAACCTAAGATACCATAAAGTAAAGGTTGAC
ATTACATATTTTCATTCACAATGCCCATTAAAAAAAAAAAATAGGTTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTAGGAGGC
TGAGGCAGATGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAAAAAAAACAAAA
TAAATTAACCGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGACCTGGGCCCAGGAGGTGGAGG
TTGCAGTGAGCCTTGATAGCACCACTGCACTCCAGCCTGGGTGACGGAGCAAGACCCTGTCTCAAAACAGACAAACAAGCAAAAAATAGA
TTAAAGTCTGGATTTCACTGATTTTCTTGCTTAATAAGTTTTTTAAAACCACGATGCTGCAATTTTTTCCCTCTCAAGCTTCTTGAAAAT
GTGTGATTTACCCTTTTTTATCTATTACTCTAGGCAAAGCTAAATATGATTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCC
CAGGCTGGAATGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCTCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCCCAAGTAGC
TGGGATTACAGGTGTGTGCCACCCTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCAA
ACTCCTGACCTCAGATGATCTACCCGCCTTGGCCTCCCGAAGTGCTTGAATTACAGGCGTGAGCCCCCGCGCCGGTCCGAAGCAAAGCTA
AATGTAATTTTATGTACTGTTTTAACAGTATAAACCTATGGGATAAAGGCCCCCAATCATCAGAAGGACTACTGAAAAGAAAAGAAAGCA
AACGTAGATGTCAAATTGTCTAAACATTCTTAAGTACCACTGATTTTTTTTTTCTGGACTATTATACAAAGATGTCTGTAAAAAGTATAC
CAGTGGCTTTTATGCATATACACGATTAGGCTAGATTGTGAAGTACATGGGATTTCATGAGCCAGAGGAGGCATTTGGATCCATTGGGCC
ACATGTGACTATAAGCACATTGTGTACACAATAAAATTGTAGCCACTCATGTATTAAAACTGTTTTGGTAAAAGCTGTATTAAAAGAATA
ATTTTTTGCTTGAGCTACTTAGTCACTTTTTTGCAGGGCACCAAAATGTAGGCTACTTTTCCATAGCTTGTTTGCTATGTTTTTATTTCA
TCTTAAATCTGAGCCATTTTTGGCAATATCTTTTAAAAAATCATTATTAAACATTTATTGGAAATGTTGTATAGATTCACAAGAAAGAGA
CACCAAAGTGTTTGGGAATTTTAATCCCAAGAAGTAAACATCCCAGAGTCAGATCCCATTTGCTGTTGTTCAGCCATGTTTGTATGACTG
AATGTAATTTAGGAAATCAGGAGTTAGAGATGAAAAATACAAACATGTCAAATGGTTGTAATTGCTTTTTTTGAACTTACTGGCTTTAAC
TTAAGTAATATAGGTGTGTAGTTGTTTTATCTAAAGATGTCAGATTATCTGTGGCCCTGTTAATTAACTGCAGGGACCAGAGAGAGGACA
AAAATGCCTGTATAATTTGCTTTAAAGGCTTGTCCTTATGTTTGTAATTTCAGTTAAATATTTTCTACAGATTGCTTCACTTCCCCTTTC
CCCCAATAACAAGTTCATATTCTTGTAATGTTTACTTTGGTCAACGTGGTAATTTTTGGAAGAAAATGCCAAAATGTAAGCTTCTCACAA
GCAGCAAAGGAATGTAACTGCCTGTAGCTACCACATCAAGGGAGAGAAGAGGCTTGCGTACTTTGGGTTGATCTCACTGTACAAAAAAAG
TGTACCCCTATTGGAAGAAATAAGGAATACTTGAAGGTTTCTCCTTTTTTTACACTTGAGTCATGTGCAAGGTTGAACCATATGAAATTG
CCAGTGTTCAACCATTGCTGATCTGCAAAAGCGACAATATCATATGCCTCAACCTAACACTTACTCTTAAATGCAGGTTAAAATCTCTGT
GAGGCAAAGGGATAATATTCTCTAGGAACTCACTTTTGAGAGTATTTTTCTCTAACCCATGTGGATCTAAATTTTAAAAATAGGAATGAA
TCTCTTAATTGCAGCTTGTGGAGAGTATAAAACATTTTGAGCACAATATGCAGCACATAACTTTTCAGATTGTGTTTGCATAGAAAAGGT
TAAAATCAATTCTTTCAGTTACTGTATTGTTCATTTCTTGTAAAGGTCTTCCTACATTTGAGACGAGACCCTTTAACATAGGCTGCCTTA
GTAACAAAATAAAACAGATGTGTCATAATATTAACTGTCCTAAAGAACATGTGTCTTGCAAATGCCATGGAACTGAATATTTATTTCCTT
GTGAGTATTATGACCGTTACCAAAGGACTCAACCAGATTTAGGGCTCTTCTTAATTGATCATGTTCAGAAAGGGACTCATTTGGTCCCAC
TTTGTAACATGGGAAGAGTAGAAGAGAAAATTAAATGTGGAAATCATAAATGCTTTTCTAACAGGGTTATGCTATTCTGTAACACTAAAT
GTCTGTCTTTTCTCTTAAAAGATTAAGTTTTATTAATTTTGTCATACATTTCTCTATTTGAATATATCTTAACCATTTTATGTTCCAAAT
TCGTTTTTTGTCCAAGACATTCTATCAGAATTTTACTTGCCTCTATAATCTGAAAAATGGGTTCTAGAATGTCCCACTTGCTGTCTCTTA
GAGGCTGAGCTTCATTTCTATGAGCAAAGAGCTCATTTAGCAATGTAGTTATTTCAGTATTTATTTCTATTATGGAATCCCTGGGGTTCA

>54133_54133_2_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000313863_SPAG9_chr17_49109083_ENST00000262013_length(amino acids)=1379AA_BP=305
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEV
DLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSR
IVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSP
HAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEGFV
KVTDAPNKSEISKHIEVQVAQETRNVSTGSAENEEKSEVQAIIESTPELDMDKDLSGYKGSSTPTKGIENKAFDRNTESLFEELSSAGSG
LIGDVDEGADLLGMGREVENLILENTQLLETKNALNIVKNDLIAKVDELTCEKDVLQGELEAVKQAKLKLEEKNRELEEELRKARAEAED
ARQKAKDDDDSDIPTAQRKRFTRVEMARVLMERNQYKERLMELQEAVRWTEMIRASRENPAMQEKKRSSIWQFFSRLFSSSSNTTKKPEP
PVNLKYNAPTSHVTPSVKKRSSTLSQLPGDKSKAFDFLSEETEASLASRREQKREQYRQVKAHVQKEDGRVQAFGWSLPQKYKQVTNGQG
ENKMKNLPVPVYLRPLDEKDTSMKLWCAVGVNLSGGKTRDGGSVVGASVFYKDVAGLDTEGSKQRSASQSSLDKLDQELKEQQKELKNQE
ELSSLVWICTSTHSATKVLIIDAVQPGNILDSFTVCNSHVLCIASVPGARETDYPAGEDLSESGQVDKASLCGSMTSNSSAETDSLLGGI
TVVGCSAEGVTGAATSPSTNGASPVMDKPPEMEAENSEVDENVPTAEEATEATEGNAGSAEDTVDISQTGVYTEHVFTDPLGVQIPEDLS
PVYQSSNDSDAYKDQISVLPNEQDLVREEAQKMSSLLPTMWLGAQNGCLYVHSSVAQWRKCLHSIKLKDSILSIVHVKGIVLVALADGTL
AIFHRGVDGQWDLSNYHLLDLGRPHHSIRCMTVVHDKVWCGYRNKIYVVQPKAMKIEKSFDAHPRKESQVRQLAWVGDGVWVSIRLDSTL
RLYHAHTYQHLQDVDIEPYVSKMLGTGKLGFSFVRITALMVSCNRLWVGTGNGVIISIPLTETNKTSGVPGNRPGSVIRVYGDENSDKVT
PGTFIPYCSMAHAQLCFHGHRDAVKFFVAVPGQVISPQSSSSGTDLTGDKAGPSAQEPGSQTPLKSMLVISGGEGYIDFRMGDEGGESEL

--------------------------------------------------------------
>54133_54133_3_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000337050_SPAG9_chr17_49109083_ENST00000262013_length(transcript)=8248nt_BP=925nt
CGCAGCTGTCATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCG
AGTCCACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTT
TAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCA
GTTTGAAGTAGATCTGTACCAAAATGAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTC
GGGTGGCAAGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGC
AGCCAGCGAGGTGCCTTCATTCTTGGTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCT
CAAGTCACGCATCGTCACCTGGGAGCCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCAT
GGCAGACCTGGGGCCCTATAAAAAGCTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCAC
AGTAAAGCCTGACTTCACGGGCCTCAAAGGACCCTACAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAA
TGTTTCCCCCCACGCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAG
CCTCGTAGGCACCGACTTTGAGATGGTCAGCAATAGTCCTGAACCTCAGAAGGCTGTAGAACAGGAGGATGAGCTTTCTGATGTTAGCCA
AGGCGGATCTAAAGCTACCACTCCAGCATCAACAGCTAATTCAGATGTGGCAACAATTCCTACTGATACTCCCTTAAAGGAAGAAAACGA
AGGATTTGTGAAGGTTACAGATGCGCCAAATAAATCAGAGATAAGCAAACACATTGAAGTACAGGTAGCCCAGGAAACTAGAAATGTATC
TACTGGCTCTGCTGAAAATGAAGAAAAGTCAGAAGTTCAAGCAATCATCGAATCTACTCCTGAGCTGGATATGGACAAAGATCTCAGTGG
ATATAAAGGTTCAAGCACTCCCACCAAAGGCATAGAGAACAAAGCTTTTGATCGCAATACAGAATCTCTCTTTGAAGAACTGTCTTCAGC
TGGCTCAGGCCTAATAGGAGATGTGGATGAAGGAGCAGATTTACTAGGAATGGGTCGGGAAGTTGAGAATCTTATATTAGAAAATACACA
ACTGTTGGAAACCAAAAATGCTTTGAACATAGTGAAGAATGATTTGATAGCAAAAGTGGATGAACTGACCTGTGAGAAAGATGTGCTGCA
AGGGGAATTGGAGGCTGTGAAGCAAGCCAAACTGAAACTAGAGGAAAAGAACAGAGAATTGGAGGAAGAGCTTAGGAAAGCTCGGGCAGA
AGCTGAAGATGCAAGGCAAAAAGCAAAAGATGACGATGATAGTGATATTCCCACAGCCCAGAGGAAACGGTTTACTAGAGTAGAAATGGC
CCGTGTTCTCATGGAGCGAAACCAGTATAAAGAGAGATTGATGGAGCTTCAGGAAGCTGTTCGATGGACAGAGATGATTCGGGCATCACG
AGAAAATCCAGCCATGCAGGAAAAAAAAAGGTCAAGCATTTGGCAGTTTTTCAGCCGACTTTTCAGCTCCTCAAGTAACACGACTAAGAA
GCCTGAACCACCTGTTAATCTGAAGTACAATGCACCCACGTCTCATGTTACTCCGTCCGTCAAGAAAAGAAGCAGCACCTTATCTCAGCT
CCCTGGGGATAAGTCCAAAGCCTTTGATTTCCTTAGTGAAGAAACTGAAGCTAGTTTAGCCTCACGCAGAGAACAAAAGAGAGAGCAGTA
TCGTCAGGTAAAAGCACATGTTCAGAAGGAAGACGGTAGAGTGCAGGCTTTTGGCTGGAGTCTGCCTCAGAAGTACAAACAGGTAACCAA
TGGTCAAGGTGAAAATAAGATGAAAAATTTACCTGTGCCTGTCTATCTCAGACCTCTGGATGAAAAAGATACATCAATGAAGCTGTGGTG
TGCTGTTGGAGTCAATTTATCTGGTGGGAAGACCAGAGATGGTGGTTCTGTTGTTGGAGCAAGTGTATTTTACAAGGATGTTGCTGGTTT
GGATACAGAAGGCAGTAAACAGCGAAGTGCCTCTCAGAGTAGTTTAGATAAGTTAGATCAGGAACTTAAGGAACAGCAGAAGGAGTTAAA
AAATCAAGAAGAATTATCCAGTCTAGTTTGGATCTGTACCAGCACTCATTCGGCTACAAAAGTTCTTATTATTGATGCTGTTCAACCTGG
CAACATCCTAGACAGTTTCACTGTTTGCAACTCTCATGTTCTGTGCATTGCAAGTGTGCCAGGTGCACGAGAAACAGACTACCCTGCAGG
AGAAGATCTTTCAGAATCTGGTCAGGTAGACAAAGCATCTTTATGTGGAAGTATGACAAGCAACAGCTCAGCAGAGACAGACAGCCTGTT
AGGAGGCATCACAGTGGTTGGTTGTTCTGCAGAAGGTGTGACGGGAGCTGCCACTTCCCCTAGTACAAATGGTGCTTCTCCAGTGATGGA
TAAACCACCAGAAATGGAAGCAGAAAATAGTGAGGTTGATGAAAATGTTCCAACAGCAGAAGAAGCAACTGAAGCTACAGAAGGGAATGC
GGGGTCAGCTGAAGACACAGTGGACATCTCCCAAACTGGCGTCTACACAGAGCATGTCTTTACAGATCCTTTGGGAGTTCAGATCCCAGA
AGACCTCTCCCCAGTGTATCAGTCGAGCAATGACTCAGATGCATATAAAGATCAAATATCAGTACTGCCAAATGAACAAGACTTGGTGAG
AGAAGAAGCCCAGAAAATGAGTAGTCTTTTACCAACTATGTGGCTTGGAGCTCAAAATGGCTGTTTGTATGTCCATTCATCTGTAGCCCA
GTGGAGGAAATGTCTCCATTCCATTAAACTTAAAGATTCGATTCTCAGTATTGTACACGTGAAGGGAATCGTGTTAGTAGCCCTGGCTGA
CGGCACCCTTGCAATCTTTCACAGAGGAGTGGATGGGCAGTGGGATTTGTCAAACTATCACCTCTTAGACCTTGGACGGCCTCATCATTC
CATCCGTTGCATGACTGTGGTACATGACAAAGTCTGGTGTGGCTATAGGAACAAAATCTATGTGGTGCAGCCAAAGGCCATGAAAATAGA
GAAATCTTTTGATGCACATCCCAGGAAGGAGAGCCAAGTGCGACAGCTTGCGTGGGTGGGGGATGGCGTGTGGGTCTCCATTCGCTTGGA
TTCTACGCTCCGTCTCTATCATGCACACACTTATCAACATCTACAGGATGTGGACATTGAGCCTTATGTAAGCAAAATGTTAGGTACTGG
AAAACTGGGCTTCTCTTTTGTGAGAATTACAGCTCTTATGGTGTCTTGTAATCGTTTGTGGGTGGGGACAGGAAATGGTGTCATTATCTC
CATCCCATTGACAGAAACAAATAAAACCTCAGGTGTACCAGGAAATCGTCCTGGAAGTGTAATCCGTGTATATGGTGATGAAAACAGTGA
TAAAGTGACTCCAGGGACATTTATACCCTATTGTTCAATGGCACATGCACAGCTTTGCTTCCATGGGCACCGGGATGCTGTGAAATTCTT
TGTGGCAGTCCCAGGTCAAGTCATCAGCCCACAAAGTAGCAGTAGTGGCACGGATCTGACGGGTGACAAAGCAGGGCCATCTGCACAGGA
GCCTGGTAGTCAGACGCCCTTGAAGTCTATGCTTGTCATCAGTGGAGGAGAGGGCTACATCGACTTCCGAATGGGTGATGAAGGTGGAGA
ATCAGAACTTCTTGGAGAGGATCTTCCACTTGAACCTTCTGTCACCAAAGCAGAAAGGAGTCACTTGATAGTGTGGCAAGTGATGTATGG
CAATGAGTGAGCCCATGGGAAACAGGTGGAGATGGGGAAGCCGTCTCTTCTGCATGGTTTATTTTCCCTCTATCCTTTTATTTAATGCTC
TTTTGTGAGATAAGTTTCACCACATAATGTGTGAGCATTTTTTCCTGTTAACTTTATATTACAAAATCCGTTCTACCATAACAATACAGA
GGAACTAGCTGTGTTACTGCACCAGTGTTATAGGTAACTTCAGTATATTATGAACAAATCAAAGAATGTTTACTTCCTGCAAACTGGTGA
ATTATAGAAAGCAATCCAGATGTGGTTTACTCTGCCACAGTCTAATGTCATTCACTTCATTTGATGGGGTCACTTGTTAGCTGTCACTAA
TAATGGAATTAATGGGAAACACTTGATAAATGAAACTGTACCGTTAAATACAATAGCTGAGTTTTCCCCAGTGTATTGTAAAATTGACAC
ACACTAATACAAGATGGATTATCAGGATGTATCTAAATGTCCCGAGAGGGTTAAAAGCTAACTGTAAATTACTTTAACTTTCACTTTCAA
ATCTGACAAATCTTGTTTATATGGTATATAAAACTTTGTTTTCATCAGATTTGGGGGGGTTTTATATTAAAGAAATTAAGACTACACTAT
TTAAATAAACGTTTCCTGTTTCTGACTTATTAGAGCTCTAAAGTTTATGAGGCCTACTTCTCTGAATATTCTGATGGGTTTTTTTTGAGA
CCAGTCTCATTTTCATACTGACATGTCTGAAAGATTTATTATTTATAAAGCTTAGGACATACTCTGGGAAGCTTAGAAGATACTTCAGCA
CTGGGAGGATTTTTTAAAGGAAATGTGTTTTGTATTTCTTGTACCAGAGAATGGTGATGTTGATTGAGTTTTTTCCATGTAAAAAATGTA
CTTGTTTGCCAAATGTTCCTAGATTGCTCTTAACCTGTTAATACAAGTAAAACTGTAGTGGGGATGGAGTCTGGCCTAAGTACAGAATGA
GGGATTTAATTAGAAAAGTTATTTTCTTTTGTTCTGTATCAAACTGCAGAACAGCTATATACTTGGTATTTTGTACGTGAATAACGTTTT
AGCTTTTGTGCCCTTTTGAGCTTGAAGGGTTATCCTCAAAGGGGAAAACTATGAAGGGGAAGAAGACAAACCTAAGATACCATAAAGTAA
AGGTTGACATTACATATTTTCATTCACAATGCCCATTAAAAAAAAAAAATAGGTTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTT
TAGGAGGCTGAGGCAGATGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAAAAA
AAACAAAATAAATTAACCGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGACCTGGGCCCAGGA
GGTGGAGGTTGCAGTGAGCCTTGATAGCACCACTGCACTCCAGCCTGGGTGACGGAGCAAGACCCTGTCTCAAAACAGACAAACAAGCAA
AAAATAGATTAAAGTCTGGATTTCACTGATTTTCTTGCTTAATAAGTTTTTTAAAACCACGATGCTGCAATTTTTTCCCTCTCAAGCTTC
TTGAAAATGTGTGATTTACCCTTTTTTATCTATTACTCTAGGCAAAGCTAAATATGATTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCT
CTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCTCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCC
CAAGTAGCTGGGATTACAGGTGTGTGCCACCCTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCT
GGTCTCAAACTCCTGACCTCAGATGATCTACCCGCCTTGGCCTCCCGAAGTGCTTGAATTACAGGCGTGAGCCCCCGCGCCGGTCCGAAG
CAAAGCTAAATGTAATTTTATGTACTGTTTTAACAGTATAAACCTATGGGATAAAGGCCCCCAATCATCAGAAGGACTACTGAAAAGAAA
AGAAAGCAAACGTAGATGTCAAATTGTCTAAACATTCTTAAGTACCACTGATTTTTTTTTTCTGGACTATTATACAAAGATGTCTGTAAA
AAGTATACCAGTGGCTTTTATGCATATACACGATTAGGCTAGATTGTGAAGTACATGGGATTTCATGAGCCAGAGGAGGCATTTGGATCC
ATTGGGCCACATGTGACTATAAGCACATTGTGTACACAATAAAATTGTAGCCACTCATGTATTAAAACTGTTTTGGTAAAAGCTGTATTA
AAAGAATAATTTTTTGCTTGAGCTACTTAGTCACTTTTTTGCAGGGCACCAAAATGTAGGCTACTTTTCCATAGCTTGTTTGCTATGTTT
TTATTTCATCTTAAATCTGAGCCATTTTTGGCAATATCTTTTAAAAAATCATTATTAAACATTTATTGGAAATGTTGTATAGATTCACAA
GAAAGAGACACCAAAGTGTTTGGGAATTTTAATCCCAAGAAGTAAACATCCCAGAGTCAGATCCCATTTGCTGTTGTTCAGCCATGTTTG
TATGACTGAATGTAATTTAGGAAATCAGGAGTTAGAGATGAAAAATACAAACATGTCAAATGGTTGTAATTGCTTTTTTTGAACTTACTG
GCTTTAACTTAAGTAATATAGGTGTGTAGTTGTTTTATCTAAAGATGTCAGATTATCTGTGGCCCTGTTAATTAACTGCAGGGACCAGAG
AGAGGACAAAAATGCCTGTATAATTTGCTTTAAAGGCTTGTCCTTATGTTTGTAATTTCAGTTAAATATTTTCTACAGATTGCTTCACTT
CCCCTTTCCCCCAATAACAAGTTCATATTCTTGTAATGTTTACTTTGGTCAACGTGGTAATTTTTGGAAGAAAATGCCAAAATGTAAGCT
TCTCACAAGCAGCAAAGGAATGTAACTGCCTGTAGCTACCACATCAAGGGAGAGAAGAGGCTTGCGTACTTTGGGTTGATCTCACTGTAC
AAAAAAAGTGTACCCCTATTGGAAGAAATAAGGAATACTTGAAGGTTTCTCCTTTTTTTACACTTGAGTCATGTGCAAGGTTGAACCATA
TGAAATTGCCAGTGTTCAACCATTGCTGATCTGCAAAAGCGACAATATCATATGCCTCAACCTAACACTTACTCTTAAATGCAGGTTAAA
ATCTCTGTGAGGCAAAGGGATAATATTCTCTAGGAACTCACTTTTGAGAGTATTTTTCTCTAACCCATGTGGATCTAAATTTTAAAAATA
GGAATGAATCTCTTAATTGCAGCTTGTGGAGAGTATAAAACATTTTGAGCACAATATGCAGCACATAACTTTTCAGATTGTGTTTGCATA
GAAAAGGTTAAAATCAATTCTTTCAGTTACTGTATTGTTCATTTCTTGTAAAGGTCTTCCTACATTTGAGACGAGACCCTTTAACATAGG
CTGCCTTAGTAACAAAATAAAACAGATGTGTCATAATATTAACTGTCCTAAAGAACATGTGTCTTGCAAATGCCATGGAACTGAATATTT
ATTTCCTTGTGAGTATTATGACCGTTACCAAAGGACTCAACCAGATTTAGGGCTCTTCTTAATTGATCATGTTCAGAAAGGGACTCATTT
GGTCCCACTTTGTAACATGGGAAGAGTAGAAGAGAAAATTAAATGTGGAAATCATAAATGCTTTTCTAACAGGGTTATGCTATTCTGTAA
CACTAAATGTCTGTCTTTTCTCTTAAAAGATTAAGTTTTATTAATTTTGTCATACATTTCTCTATTTGAATATATCTTAACCATTTTATG
TTCCAAATTCGTTTTTTGTCCAAGACATTCTATCAGAATTTTACTTGCCTCTATAATCTGAAAAATGGGTTCTAGAATGTCCCACTTGCT
GTCTCTTAGAGGCTGAGCTTCATTTCTATGAGCAAAGAGCTCATTTAGCAATGTAGTTATTTCAGTATTTATTTCTATTATGGAATCCCT

>54133_54133_3_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000337050_SPAG9_chr17_49109083_ENST00000262013_length(amino acids)=1379AA_BP=305
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEV
DLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSR
IVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSP
HAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEGFV
KVTDAPNKSEISKHIEVQVAQETRNVSTGSAENEEKSEVQAIIESTPELDMDKDLSGYKGSSTPTKGIENKAFDRNTESLFEELSSAGSG
LIGDVDEGADLLGMGREVENLILENTQLLETKNALNIVKNDLIAKVDELTCEKDVLQGELEAVKQAKLKLEEKNRELEEELRKARAEAED
ARQKAKDDDDSDIPTAQRKRFTRVEMARVLMERNQYKERLMELQEAVRWTEMIRASRENPAMQEKKRSSIWQFFSRLFSSSSNTTKKPEP
PVNLKYNAPTSHVTPSVKKRSSTLSQLPGDKSKAFDFLSEETEASLASRREQKREQYRQVKAHVQKEDGRVQAFGWSLPQKYKQVTNGQG
ENKMKNLPVPVYLRPLDEKDTSMKLWCAVGVNLSGGKTRDGGSVVGASVFYKDVAGLDTEGSKQRSASQSSLDKLDQELKEQQKELKNQE
ELSSLVWICTSTHSATKVLIIDAVQPGNILDSFTVCNSHVLCIASVPGARETDYPAGEDLSESGQVDKASLCGSMTSNSSAETDSLLGGI
TVVGCSAEGVTGAATSPSTNGASPVMDKPPEMEAENSEVDENVPTAEEATEATEGNAGSAEDTVDISQTGVYTEHVFTDPLGVQIPEDLS
PVYQSSNDSDAYKDQISVLPNEQDLVREEAQKMSSLLPTMWLGAQNGCLYVHSSVAQWRKCLHSIKLKDSILSIVHVKGIVLVALADGTL
AIFHRGVDGQWDLSNYHLLDLGRPHHSIRCMTVVHDKVWCGYRNKIYVVQPKAMKIEKSFDAHPRKESQVRQLAWVGDGVWVSIRLDSTL
RLYHAHTYQHLQDVDIEPYVSKMLGTGKLGFSFVRITALMVSCNRLWVGTGNGVIISIPLTETNKTSGVPGNRPGSVIRVYGDENSDKVT
PGTFIPYCSMAHAQLCFHGHRDAVKFFVAVPGQVISPQSSSSGTDLTGDKAGPSAQEPGSQTPLKSMLVISGGEGYIDFRMGDEGGESEL

--------------------------------------------------------------
>54133_54133_4_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000393119_SPAG9_chr17_49109083_ENST00000262013_length(transcript)=8313nt_BP=990nt
CCGATCCAGCGTCTCCGTTGCCAGGAAAACAGAGCGGCGCGCTTTCCGGCGCAGTCGCGGCGCGTCGCAGCTGTCATGGCGGAGACCGTC
TGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTCCACCTGCAAAGAATCACATCA
AGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGA
CACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTTGAAGTAGATCTGTACCAAAAT
GAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTCGGGTGGCAAGAAAAACCGACGAATC
TTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGCAGCCAGCGAGGTGCCTTCATTCTTG
GTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCTCAAGTCACGCATCGTCACCTGGGAG
CCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGGGCCCTATAAAAAG
CTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGCCTGACTTCACGGGCCTC
AAAGGACCCTACAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCACGCACAGCCGGAG
GAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATG
GTCAGCAATAGTCCTGAACCTCAGAAGGCTGTAGAACAGGAGGATGAGCTTTCTGATGTTAGCCAAGGCGGATCTAAAGCTACCACTCCA
GCATCAACAGCTAATTCAGATGTGGCAACAATTCCTACTGATACTCCCTTAAAGGAAGAAAACGAAGGATTTGTGAAGGTTACAGATGCG
CCAAATAAATCAGAGATAAGCAAACACATTGAAGTACAGGTAGCCCAGGAAACTAGAAATGTATCTACTGGCTCTGCTGAAAATGAAGAA
AAGTCAGAAGTTCAAGCAATCATCGAATCTACTCCTGAGCTGGATATGGACAAAGATCTCAGTGGATATAAAGGTTCAAGCACTCCCACC
AAAGGCATAGAGAACAAAGCTTTTGATCGCAATACAGAATCTCTCTTTGAAGAACTGTCTTCAGCTGGCTCAGGCCTAATAGGAGATGTG
GATGAAGGAGCAGATTTACTAGGAATGGGTCGGGAAGTTGAGAATCTTATATTAGAAAATACACAACTGTTGGAAACCAAAAATGCTTTG
AACATAGTGAAGAATGATTTGATAGCAAAAGTGGATGAACTGACCTGTGAGAAAGATGTGCTGCAAGGGGAATTGGAGGCTGTGAAGCAA
GCCAAACTGAAACTAGAGGAAAAGAACAGAGAATTGGAGGAAGAGCTTAGGAAAGCTCGGGCAGAAGCTGAAGATGCAAGGCAAAAAGCA
AAAGATGACGATGATAGTGATATTCCCACAGCCCAGAGGAAACGGTTTACTAGAGTAGAAATGGCCCGTGTTCTCATGGAGCGAAACCAG
TATAAAGAGAGATTGATGGAGCTTCAGGAAGCTGTTCGATGGACAGAGATGATTCGGGCATCACGAGAAAATCCAGCCATGCAGGAAAAA
AAAAGGTCAAGCATTTGGCAGTTTTTCAGCCGACTTTTCAGCTCCTCAAGTAACACGACTAAGAAGCCTGAACCACCTGTTAATCTGAAG
TACAATGCACCCACGTCTCATGTTACTCCGTCCGTCAAGAAAAGAAGCAGCACCTTATCTCAGCTCCCTGGGGATAAGTCCAAAGCCTTT
GATTTCCTTAGTGAAGAAACTGAAGCTAGTTTAGCCTCACGCAGAGAACAAAAGAGAGAGCAGTATCGTCAGGTAAAAGCACATGTTCAG
AAGGAAGACGGTAGAGTGCAGGCTTTTGGCTGGAGTCTGCCTCAGAAGTACAAACAGGTAACCAATGGTCAAGGTGAAAATAAGATGAAA
AATTTACCTGTGCCTGTCTATCTCAGACCTCTGGATGAAAAAGATACATCAATGAAGCTGTGGTGTGCTGTTGGAGTCAATTTATCTGGT
GGGAAGACCAGAGATGGTGGTTCTGTTGTTGGAGCAAGTGTATTTTACAAGGATGTTGCTGGTTTGGATACAGAAGGCAGTAAACAGCGA
AGTGCCTCTCAGAGTAGTTTAGATAAGTTAGATCAGGAACTTAAGGAACAGCAGAAGGAGTTAAAAAATCAAGAAGAATTATCCAGTCTA
GTTTGGATCTGTACCAGCACTCATTCGGCTACAAAAGTTCTTATTATTGATGCTGTTCAACCTGGCAACATCCTAGACAGTTTCACTGTT
TGCAACTCTCATGTTCTGTGCATTGCAAGTGTGCCAGGTGCACGAGAAACAGACTACCCTGCAGGAGAAGATCTTTCAGAATCTGGTCAG
GTAGACAAAGCATCTTTATGTGGAAGTATGACAAGCAACAGCTCAGCAGAGACAGACAGCCTGTTAGGAGGCATCACAGTGGTTGGTTGT
TCTGCAGAAGGTGTGACGGGAGCTGCCACTTCCCCTAGTACAAATGGTGCTTCTCCAGTGATGGATAAACCACCAGAAATGGAAGCAGAA
AATAGTGAGGTTGATGAAAATGTTCCAACAGCAGAAGAAGCAACTGAAGCTACAGAAGGGAATGCGGGGTCAGCTGAAGACACAGTGGAC
ATCTCCCAAACTGGCGTCTACACAGAGCATGTCTTTACAGATCCTTTGGGAGTTCAGATCCCAGAAGACCTCTCCCCAGTGTATCAGTCG
AGCAATGACTCAGATGCATATAAAGATCAAATATCAGTACTGCCAAATGAACAAGACTTGGTGAGAGAAGAAGCCCAGAAAATGAGTAGT
CTTTTACCAACTATGTGGCTTGGAGCTCAAAATGGCTGTTTGTATGTCCATTCATCTGTAGCCCAGTGGAGGAAATGTCTCCATTCCATT
AAACTTAAAGATTCGATTCTCAGTATTGTACACGTGAAGGGAATCGTGTTAGTAGCCCTGGCTGACGGCACCCTTGCAATCTTTCACAGA
GGAGTGGATGGGCAGTGGGATTTGTCAAACTATCACCTCTTAGACCTTGGACGGCCTCATCATTCCATCCGTTGCATGACTGTGGTACAT
GACAAAGTCTGGTGTGGCTATAGGAACAAAATCTATGTGGTGCAGCCAAAGGCCATGAAAATAGAGAAATCTTTTGATGCACATCCCAGG
AAGGAGAGCCAAGTGCGACAGCTTGCGTGGGTGGGGGATGGCGTGTGGGTCTCCATTCGCTTGGATTCTACGCTCCGTCTCTATCATGCA
CACACTTATCAACATCTACAGGATGTGGACATTGAGCCTTATGTAAGCAAAATGTTAGGTACTGGAAAACTGGGCTTCTCTTTTGTGAGA
ATTACAGCTCTTATGGTGTCTTGTAATCGTTTGTGGGTGGGGACAGGAAATGGTGTCATTATCTCCATCCCATTGACAGAAACAAATAAA
ACCTCAGGTGTACCAGGAAATCGTCCTGGAAGTGTAATCCGTGTATATGGTGATGAAAACAGTGATAAAGTGACTCCAGGGACATTTATA
CCCTATTGTTCAATGGCACATGCACAGCTTTGCTTCCATGGGCACCGGGATGCTGTGAAATTCTTTGTGGCAGTCCCAGGTCAAGTCATC
AGCCCACAAAGTAGCAGTAGTGGCACGGATCTGACGGGTGACAAAGCAGGGCCATCTGCACAGGAGCCTGGTAGTCAGACGCCCTTGAAG
TCTATGCTTGTCATCAGTGGAGGAGAGGGCTACATCGACTTCCGAATGGGTGATGAAGGTGGAGAATCAGAACTTCTTGGAGAGGATCTT
CCACTTGAACCTTCTGTCACCAAAGCAGAAAGGAGTCACTTGATAGTGTGGCAAGTGATGTATGGCAATGAGTGAGCCCATGGGAAACAG
GTGGAGATGGGGAAGCCGTCTCTTCTGCATGGTTTATTTTCCCTCTATCCTTTTATTTAATGCTCTTTTGTGAGATAAGTTTCACCACAT
AATGTGTGAGCATTTTTTCCTGTTAACTTTATATTACAAAATCCGTTCTACCATAACAATACAGAGGAACTAGCTGTGTTACTGCACCAG
TGTTATAGGTAACTTCAGTATATTATGAACAAATCAAAGAATGTTTACTTCCTGCAAACTGGTGAATTATAGAAAGCAATCCAGATGTGG
TTTACTCTGCCACAGTCTAATGTCATTCACTTCATTTGATGGGGTCACTTGTTAGCTGTCACTAATAATGGAATTAATGGGAAACACTTG
ATAAATGAAACTGTACCGTTAAATACAATAGCTGAGTTTTCCCCAGTGTATTGTAAAATTGACACACACTAATACAAGATGGATTATCAG
GATGTATCTAAATGTCCCGAGAGGGTTAAAAGCTAACTGTAAATTACTTTAACTTTCACTTTCAAATCTGACAAATCTTGTTTATATGGT
ATATAAAACTTTGTTTTCATCAGATTTGGGGGGGTTTTATATTAAAGAAATTAAGACTACACTATTTAAATAAACGTTTCCTGTTTCTGA
CTTATTAGAGCTCTAAAGTTTATGAGGCCTACTTCTCTGAATATTCTGATGGGTTTTTTTTGAGACCAGTCTCATTTTCATACTGACATG
TCTGAAAGATTTATTATTTATAAAGCTTAGGACATACTCTGGGAAGCTTAGAAGATACTTCAGCACTGGGAGGATTTTTTAAAGGAAATG
TGTTTTGTATTTCTTGTACCAGAGAATGGTGATGTTGATTGAGTTTTTTCCATGTAAAAAATGTACTTGTTTGCCAAATGTTCCTAGATT
GCTCTTAACCTGTTAATACAAGTAAAACTGTAGTGGGGATGGAGTCTGGCCTAAGTACAGAATGAGGGATTTAATTAGAAAAGTTATTTT
CTTTTGTTCTGTATCAAACTGCAGAACAGCTATATACTTGGTATTTTGTACGTGAATAACGTTTTAGCTTTTGTGCCCTTTTGAGCTTGA
AGGGTTATCCTCAAAGGGGAAAACTATGAAGGGGAAGAAGACAAACCTAAGATACCATAAAGTAAAGGTTGACATTACATATTTTCATTC
ACAATGCCCATTAAAAAAAAAAAATAGGTTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTAGGAGGCTGAGGCAGATGGATTGC
TTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAAAAAAAACAAAATAAATTAACCGGGTGTG
GTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGACCTGGGCCCAGGAGGTGGAGGTTGCAGTGAGCCTTGAT
AGCACCACTGCACTCCAGCCTGGGTGACGGAGCAAGACCCTGTCTCAAAACAGACAAACAAGCAAAAAATAGATTAAAGTCTGGATTTCA
CTGATTTTCTTGCTTAATAAGTTTTTTAAAACCACGATGCTGCAATTTTTTCCCTCTCAAGCTTCTTGAAAATGTGTGATTTACCCTTTT
TTATCTATTACTCTAGGCAAAGCTAAATATGATTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAGTG
GTGCGATCTCAGCTCACTGCAACCTCCACCTCTCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGT
GCCACCCTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATG
ATCTACCCGCCTTGGCCTCCCGAAGTGCTTGAATTACAGGCGTGAGCCCCCGCGCCGGTCCGAAGCAAAGCTAAATGTAATTTTATGTAC
TGTTTTAACAGTATAAACCTATGGGATAAAGGCCCCCAATCATCAGAAGGACTACTGAAAAGAAAAGAAAGCAAACGTAGATGTCAAATT
GTCTAAACATTCTTAAGTACCACTGATTTTTTTTTTCTGGACTATTATACAAAGATGTCTGTAAAAAGTATACCAGTGGCTTTTATGCAT
ATACACGATTAGGCTAGATTGTGAAGTACATGGGATTTCATGAGCCAGAGGAGGCATTTGGATCCATTGGGCCACATGTGACTATAAGCA
CATTGTGTACACAATAAAATTGTAGCCACTCATGTATTAAAACTGTTTTGGTAAAAGCTGTATTAAAAGAATAATTTTTTGCTTGAGCTA
CTTAGTCACTTTTTTGCAGGGCACCAAAATGTAGGCTACTTTTCCATAGCTTGTTTGCTATGTTTTTATTTCATCTTAAATCTGAGCCAT
TTTTGGCAATATCTTTTAAAAAATCATTATTAAACATTTATTGGAAATGTTGTATAGATTCACAAGAAAGAGACACCAAAGTGTTTGGGA
ATTTTAATCCCAAGAAGTAAACATCCCAGAGTCAGATCCCATTTGCTGTTGTTCAGCCATGTTTGTATGACTGAATGTAATTTAGGAAAT
CAGGAGTTAGAGATGAAAAATACAAACATGTCAAATGGTTGTAATTGCTTTTTTTGAACTTACTGGCTTTAACTTAAGTAATATAGGTGT
GTAGTTGTTTTATCTAAAGATGTCAGATTATCTGTGGCCCTGTTAATTAACTGCAGGGACCAGAGAGAGGACAAAAATGCCTGTATAATT
TGCTTTAAAGGCTTGTCCTTATGTTTGTAATTTCAGTTAAATATTTTCTACAGATTGCTTCACTTCCCCTTTCCCCCAATAACAAGTTCA
TATTCTTGTAATGTTTACTTTGGTCAACGTGGTAATTTTTGGAAGAAAATGCCAAAATGTAAGCTTCTCACAAGCAGCAAAGGAATGTAA
CTGCCTGTAGCTACCACATCAAGGGAGAGAAGAGGCTTGCGTACTTTGGGTTGATCTCACTGTACAAAAAAAGTGTACCCCTATTGGAAG
AAATAAGGAATACTTGAAGGTTTCTCCTTTTTTTACACTTGAGTCATGTGCAAGGTTGAACCATATGAAATTGCCAGTGTTCAACCATTG
CTGATCTGCAAAAGCGACAATATCATATGCCTCAACCTAACACTTACTCTTAAATGCAGGTTAAAATCTCTGTGAGGCAAAGGGATAATA
TTCTCTAGGAACTCACTTTTGAGAGTATTTTTCTCTAACCCATGTGGATCTAAATTTTAAAAATAGGAATGAATCTCTTAATTGCAGCTT
GTGGAGAGTATAAAACATTTTGAGCACAATATGCAGCACATAACTTTTCAGATTGTGTTTGCATAGAAAAGGTTAAAATCAATTCTTTCA
GTTACTGTATTGTTCATTTCTTGTAAAGGTCTTCCTACATTTGAGACGAGACCCTTTAACATAGGCTGCCTTAGTAACAAAATAAAACAG
ATGTGTCATAATATTAACTGTCCTAAAGAACATGTGTCTTGCAAATGCCATGGAACTGAATATTTATTTCCTTGTGAGTATTATGACCGT
TACCAAAGGACTCAACCAGATTTAGGGCTCTTCTTAATTGATCATGTTCAGAAAGGGACTCATTTGGTCCCACTTTGTAACATGGGAAGA
GTAGAAGAGAAAATTAAATGTGGAAATCATAAATGCTTTTCTAACAGGGTTATGCTATTCTGTAACACTAAATGTCTGTCTTTTCTCTTA
AAAGATTAAGTTTTATTAATTTTGTCATACATTTCTCTATTTGAATATATCTTAACCATTTTATGTTCCAAATTCGTTTTTTGTCCAAGA
CATTCTATCAGAATTTTACTTGCCTCTATAATCTGAAAAATGGGTTCTAGAATGTCCCACTTGCTGTCTCTTAGAGGCTGAGCTTCATTT
CTATGAGCAAAGAGCTCATTTAGCAATGTAGTTATTTCAGTATTTATTTCTATTATGGAATCCCTGGGGTTCAGAATGTAACTTTGTACA

>54133_54133_4_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000393119_SPAG9_chr17_49109083_ENST00000262013_length(amino acids)=1379AA_BP=305
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEV
DLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSR
IVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSP
HAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEGFV
KVTDAPNKSEISKHIEVQVAQETRNVSTGSAENEEKSEVQAIIESTPELDMDKDLSGYKGSSTPTKGIENKAFDRNTESLFEELSSAGSG
LIGDVDEGADLLGMGREVENLILENTQLLETKNALNIVKNDLIAKVDELTCEKDVLQGELEAVKQAKLKLEEKNRELEEELRKARAEAED
ARQKAKDDDDSDIPTAQRKRFTRVEMARVLMERNQYKERLMELQEAVRWTEMIRASRENPAMQEKKRSSIWQFFSRLFSSSSNTTKKPEP
PVNLKYNAPTSHVTPSVKKRSSTLSQLPGDKSKAFDFLSEETEASLASRREQKREQYRQVKAHVQKEDGRVQAFGWSLPQKYKQVTNGQG
ENKMKNLPVPVYLRPLDEKDTSMKLWCAVGVNLSGGKTRDGGSVVGASVFYKDVAGLDTEGSKQRSASQSSLDKLDQELKEQQKELKNQE
ELSSLVWICTSTHSATKVLIIDAVQPGNILDSFTVCNSHVLCIASVPGARETDYPAGEDLSESGQVDKASLCGSMTSNSSAETDSLLGGI
TVVGCSAEGVTGAATSPSTNGASPVMDKPPEMEAENSEVDENVPTAEEATEATEGNAGSAEDTVDISQTGVYTEHVFTDPLGVQIPEDLS
PVYQSSNDSDAYKDQISVLPNEQDLVREEAQKMSSLLPTMWLGAQNGCLYVHSSVAQWRKCLHSIKLKDSILSIVHVKGIVLVALADGTL
AIFHRGVDGQWDLSNYHLLDLGRPHHSIRCMTVVHDKVWCGYRNKIYVVQPKAMKIEKSFDAHPRKESQVRQLAWVGDGVWVSIRLDSTL
RLYHAHTYQHLQDVDIEPYVSKMLGTGKLGFSFVRITALMVSCNRLWVGTGNGVIISIPLTETNKTSGVPGNRPGSVIRVYGDENSDKVT
PGTFIPYCSMAHAQLCFHGHRDAVKFFVAVPGQVISPQSSSSGTDLTGDKAGPSAQEPGSQTPLKSMLVISGGEGYIDFRMGDEGGESEL

--------------------------------------------------------------
>54133_54133_5_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000537529_SPAG9_chr17_49109083_ENST00000262013_length(transcript)=8302nt_BP=979nt
AGTGTGGCATGGTGGAAAAGGTAGAGGGCGAAGACTCAGGCCACCTGGTCCCCGTCATCATTTCTGCATCTATCTGTCTATATGAAGTGG
GCTGATGGCTGTGCCAGTTTCCTCATTTGCACAGCGCACGAGGTCCCGCTTTCGAGTCCACCTGCAAAGAATCACATCAAGCAACTTTCT
TCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGA
GGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTTGAAGTAGATCTGTACCAAAATGAAACAGCCTG
TCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTCGGGTGGCAAGAAAAACCGACGAATCTTTACCTACAC
TGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGCAGCCAGCGAGGTGCCTTCATTCTTGGTCGAGCGAAT
GGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCTCAAGTCACGCATCGTCACCTGGGAGCCCTCAGAAGA
GTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGGGCCCTATAAAAAGCTTGGCTATAA
GAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGCCTGACTTCACGGGCCTCAAAGGACCCTA
CAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCACGCACAGCCGGAGGAGGAGGAGCG
GGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTCAGCAATAG
TCCTGAACCTCAGAAGGCTGTAGAACAGGAGGATGAGCTTTCTGATGTTAGCCAAGGCGGATCTAAAGCTACCACTCCAGCATCAACAGC
TAATTCAGATGTGGCAACAATTCCTACTGATACTCCCTTAAAGGAAGAAAACGAAGGATTTGTGAAGGTTACAGATGCGCCAAATAAATC
AGAGATAAGCAAACACATTGAAGTACAGGTAGCCCAGGAAACTAGAAATGTATCTACTGGCTCTGCTGAAAATGAAGAAAAGTCAGAAGT
TCAAGCAATCATCGAATCTACTCCTGAGCTGGATATGGACAAAGATCTCAGTGGATATAAAGGTTCAAGCACTCCCACCAAAGGCATAGA
GAACAAAGCTTTTGATCGCAATACAGAATCTCTCTTTGAAGAACTGTCTTCAGCTGGCTCAGGCCTAATAGGAGATGTGGATGAAGGAGC
AGATTTACTAGGAATGGGTCGGGAAGTTGAGAATCTTATATTAGAAAATACACAACTGTTGGAAACCAAAAATGCTTTGAACATAGTGAA
GAATGATTTGATAGCAAAAGTGGATGAACTGACCTGTGAGAAAGATGTGCTGCAAGGGGAATTGGAGGCTGTGAAGCAAGCCAAACTGAA
ACTAGAGGAAAAGAACAGAGAATTGGAGGAAGAGCTTAGGAAAGCTCGGGCAGAAGCTGAAGATGCAAGGCAAAAAGCAAAAGATGACGA
TGATAGTGATATTCCCACAGCCCAGAGGAAACGGTTTACTAGAGTAGAAATGGCCCGTGTTCTCATGGAGCGAAACCAGTATAAAGAGAG
ATTGATGGAGCTTCAGGAAGCTGTTCGATGGACAGAGATGATTCGGGCATCACGAGAAAATCCAGCCATGCAGGAAAAAAAAAGGTCAAG
CATTTGGCAGTTTTTCAGCCGACTTTTCAGCTCCTCAAGTAACACGACTAAGAAGCCTGAACCACCTGTTAATCTGAAGTACAATGCACC
CACGTCTCATGTTACTCCGTCCGTCAAGAAAAGAAGCAGCACCTTATCTCAGCTCCCTGGGGATAAGTCCAAAGCCTTTGATTTCCTTAG
TGAAGAAACTGAAGCTAGTTTAGCCTCACGCAGAGAACAAAAGAGAGAGCAGTATCGTCAGGTAAAAGCACATGTTCAGAAGGAAGACGG
TAGAGTGCAGGCTTTTGGCTGGAGTCTGCCTCAGAAGTACAAACAGGTAACCAATGGTCAAGGTGAAAATAAGATGAAAAATTTACCTGT
GCCTGTCTATCTCAGACCTCTGGATGAAAAAGATACATCAATGAAGCTGTGGTGTGCTGTTGGAGTCAATTTATCTGGTGGGAAGACCAG
AGATGGTGGTTCTGTTGTTGGAGCAAGTGTATTTTACAAGGATGTTGCTGGTTTGGATACAGAAGGCAGTAAACAGCGAAGTGCCTCTCA
GAGTAGTTTAGATAAGTTAGATCAGGAACTTAAGGAACAGCAGAAGGAGTTAAAAAATCAAGAAGAATTATCCAGTCTAGTTTGGATCTG
TACCAGCACTCATTCGGCTACAAAAGTTCTTATTATTGATGCTGTTCAACCTGGCAACATCCTAGACAGTTTCACTGTTTGCAACTCTCA
TGTTCTGTGCATTGCAAGTGTGCCAGGTGCACGAGAAACAGACTACCCTGCAGGAGAAGATCTTTCAGAATCTGGTCAGGTAGACAAAGC
ATCTTTATGTGGAAGTATGACAAGCAACAGCTCAGCAGAGACAGACAGCCTGTTAGGAGGCATCACAGTGGTTGGTTGTTCTGCAGAAGG
TGTGACGGGAGCTGCCACTTCCCCTAGTACAAATGGTGCTTCTCCAGTGATGGATAAACCACCAGAAATGGAAGCAGAAAATAGTGAGGT
TGATGAAAATGTTCCAACAGCAGAAGAAGCAACTGAAGCTACAGAAGGGAATGCGGGGTCAGCTGAAGACACAGTGGACATCTCCCAAAC
TGGCGTCTACACAGAGCATGTCTTTACAGATCCTTTGGGAGTTCAGATCCCAGAAGACCTCTCCCCAGTGTATCAGTCGAGCAATGACTC
AGATGCATATAAAGATCAAATATCAGTACTGCCAAATGAACAAGACTTGGTGAGAGAAGAAGCCCAGAAAATGAGTAGTCTTTTACCAAC
TATGTGGCTTGGAGCTCAAAATGGCTGTTTGTATGTCCATTCATCTGTAGCCCAGTGGAGGAAATGTCTCCATTCCATTAAACTTAAAGA
TTCGATTCTCAGTATTGTACACGTGAAGGGAATCGTGTTAGTAGCCCTGGCTGACGGCACCCTTGCAATCTTTCACAGAGGAGTGGATGG
GCAGTGGGATTTGTCAAACTATCACCTCTTAGACCTTGGACGGCCTCATCATTCCATCCGTTGCATGACTGTGGTACATGACAAAGTCTG
GTGTGGCTATAGGAACAAAATCTATGTGGTGCAGCCAAAGGCCATGAAAATAGAGAAATCTTTTGATGCACATCCCAGGAAGGAGAGCCA
AGTGCGACAGCTTGCGTGGGTGGGGGATGGCGTGTGGGTCTCCATTCGCTTGGATTCTACGCTCCGTCTCTATCATGCACACACTTATCA
ACATCTACAGGATGTGGACATTGAGCCTTATGTAAGCAAAATGTTAGGTACTGGAAAACTGGGCTTCTCTTTTGTGAGAATTACAGCTCT
TATGGTGTCTTGTAATCGTTTGTGGGTGGGGACAGGAAATGGTGTCATTATCTCCATCCCATTGACAGAAACAAATAAAACCTCAGGTGT
ACCAGGAAATCGTCCTGGAAGTGTAATCCGTGTATATGGTGATGAAAACAGTGATAAAGTGACTCCAGGGACATTTATACCCTATTGTTC
AATGGCACATGCACAGCTTTGCTTCCATGGGCACCGGGATGCTGTGAAATTCTTTGTGGCAGTCCCAGGTCAAGTCATCAGCCCACAAAG
TAGCAGTAGTGGCACGGATCTGACGGGTGACAAAGCAGGGCCATCTGCACAGGAGCCTGGTAGTCAGACGCCCTTGAAGTCTATGCTTGT
CATCAGTGGAGGAGAGGGCTACATCGACTTCCGAATGGGTGATGAAGGTGGAGAATCAGAACTTCTTGGAGAGGATCTTCCACTTGAACC
TTCTGTCACCAAAGCAGAAAGGAGTCACTTGATAGTGTGGCAAGTGATGTATGGCAATGAGTGAGCCCATGGGAAACAGGTGGAGATGGG
GAAGCCGTCTCTTCTGCATGGTTTATTTTCCCTCTATCCTTTTATTTAATGCTCTTTTGTGAGATAAGTTTCACCACATAATGTGTGAGC
ATTTTTTCCTGTTAACTTTATATTACAAAATCCGTTCTACCATAACAATACAGAGGAACTAGCTGTGTTACTGCACCAGTGTTATAGGTA
ACTTCAGTATATTATGAACAAATCAAAGAATGTTTACTTCCTGCAAACTGGTGAATTATAGAAAGCAATCCAGATGTGGTTTACTCTGCC
ACAGTCTAATGTCATTCACTTCATTTGATGGGGTCACTTGTTAGCTGTCACTAATAATGGAATTAATGGGAAACACTTGATAAATGAAAC
TGTACCGTTAAATACAATAGCTGAGTTTTCCCCAGTGTATTGTAAAATTGACACACACTAATACAAGATGGATTATCAGGATGTATCTAA
ATGTCCCGAGAGGGTTAAAAGCTAACTGTAAATTACTTTAACTTTCACTTTCAAATCTGACAAATCTTGTTTATATGGTATATAAAACTT
TGTTTTCATCAGATTTGGGGGGGTTTTATATTAAAGAAATTAAGACTACACTATTTAAATAAACGTTTCCTGTTTCTGACTTATTAGAGC
TCTAAAGTTTATGAGGCCTACTTCTCTGAATATTCTGATGGGTTTTTTTTGAGACCAGTCTCATTTTCATACTGACATGTCTGAAAGATT
TATTATTTATAAAGCTTAGGACATACTCTGGGAAGCTTAGAAGATACTTCAGCACTGGGAGGATTTTTTAAAGGAAATGTGTTTTGTATT
TCTTGTACCAGAGAATGGTGATGTTGATTGAGTTTTTTCCATGTAAAAAATGTACTTGTTTGCCAAATGTTCCTAGATTGCTCTTAACCT
GTTAATACAAGTAAAACTGTAGTGGGGATGGAGTCTGGCCTAAGTACAGAATGAGGGATTTAATTAGAAAAGTTATTTTCTTTTGTTCTG
TATCAAACTGCAGAACAGCTATATACTTGGTATTTTGTACGTGAATAACGTTTTAGCTTTTGTGCCCTTTTGAGCTTGAAGGGTTATCCT
CAAAGGGGAAAACTATGAAGGGGAAGAAGACAAACCTAAGATACCATAAAGTAAAGGTTGACATTACATATTTTCATTCACAATGCCCAT
TAAAAAAAAAAAATAGGTTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTAGGAGGCTGAGGCAGATGGATTGCTTGAGCCCAGG
AGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAAAAAAAACAAAATAAATTAACCGGGTGTGGTGGCACATGC
CTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGACCTGGGCCCAGGAGGTGGAGGTTGCAGTGAGCCTTGATAGCACCACTGC
ACTCCAGCCTGGGTGACGGAGCAAGACCCTGTCTCAAAACAGACAAACAAGCAAAAAATAGATTAAAGTCTGGATTTCACTGATTTTCTT
GCTTAATAAGTTTTTTAAAACCACGATGCTGCAATTTTTTCCCTCTCAAGCTTCTTGAAAATGTGTGATTTACCCTTTTTTATCTATTAC
TCTAGGCAAAGCTAAATATGATTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTCA
GCTCACTGCAACCTCCACCTCTCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCCTGCC
CAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCTACCCGCC
TTGGCCTCCCGAAGTGCTTGAATTACAGGCGTGAGCCCCCGCGCCGGTCCGAAGCAAAGCTAAATGTAATTTTATGTACTGTTTTAACAG
TATAAACCTATGGGATAAAGGCCCCCAATCATCAGAAGGACTACTGAAAAGAAAAGAAAGCAAACGTAGATGTCAAATTGTCTAAACATT
CTTAAGTACCACTGATTTTTTTTTTCTGGACTATTATACAAAGATGTCTGTAAAAAGTATACCAGTGGCTTTTATGCATATACACGATTA
GGCTAGATTGTGAAGTACATGGGATTTCATGAGCCAGAGGAGGCATTTGGATCCATTGGGCCACATGTGACTATAAGCACATTGTGTACA
CAATAAAATTGTAGCCACTCATGTATTAAAACTGTTTTGGTAAAAGCTGTATTAAAAGAATAATTTTTTGCTTGAGCTACTTAGTCACTT
TTTTGCAGGGCACCAAAATGTAGGCTACTTTTCCATAGCTTGTTTGCTATGTTTTTATTTCATCTTAAATCTGAGCCATTTTTGGCAATA
TCTTTTAAAAAATCATTATTAAACATTTATTGGAAATGTTGTATAGATTCACAAGAAAGAGACACCAAAGTGTTTGGGAATTTTAATCCC
AAGAAGTAAACATCCCAGAGTCAGATCCCATTTGCTGTTGTTCAGCCATGTTTGTATGACTGAATGTAATTTAGGAAATCAGGAGTTAGA
GATGAAAAATACAAACATGTCAAATGGTTGTAATTGCTTTTTTTGAACTTACTGGCTTTAACTTAAGTAATATAGGTGTGTAGTTGTTTT
ATCTAAAGATGTCAGATTATCTGTGGCCCTGTTAATTAACTGCAGGGACCAGAGAGAGGACAAAAATGCCTGTATAATTTGCTTTAAAGG
CTTGTCCTTATGTTTGTAATTTCAGTTAAATATTTTCTACAGATTGCTTCACTTCCCCTTTCCCCCAATAACAAGTTCATATTCTTGTAA
TGTTTACTTTGGTCAACGTGGTAATTTTTGGAAGAAAATGCCAAAATGTAAGCTTCTCACAAGCAGCAAAGGAATGTAACTGCCTGTAGC
TACCACATCAAGGGAGAGAAGAGGCTTGCGTACTTTGGGTTGATCTCACTGTACAAAAAAAGTGTACCCCTATTGGAAGAAATAAGGAAT
ACTTGAAGGTTTCTCCTTTTTTTACACTTGAGTCATGTGCAAGGTTGAACCATATGAAATTGCCAGTGTTCAACCATTGCTGATCTGCAA
AAGCGACAATATCATATGCCTCAACCTAACACTTACTCTTAAATGCAGGTTAAAATCTCTGTGAGGCAAAGGGATAATATTCTCTAGGAA
CTCACTTTTGAGAGTATTTTTCTCTAACCCATGTGGATCTAAATTTTAAAAATAGGAATGAATCTCTTAATTGCAGCTTGTGGAGAGTAT
AAAACATTTTGAGCACAATATGCAGCACATAACTTTTCAGATTGTGTTTGCATAGAAAAGGTTAAAATCAATTCTTTCAGTTACTGTATT
GTTCATTTCTTGTAAAGGTCTTCCTACATTTGAGACGAGACCCTTTAACATAGGCTGCCTTAGTAACAAAATAAAACAGATGTGTCATAA
TATTAACTGTCCTAAAGAACATGTGTCTTGCAAATGCCATGGAACTGAATATTTATTTCCTTGTGAGTATTATGACCGTTACCAAAGGAC
TCAACCAGATTTAGGGCTCTTCTTAATTGATCATGTTCAGAAAGGGACTCATTTGGTCCCACTTTGTAACATGGGAAGAGTAGAAGAGAA
AATTAAATGTGGAAATCATAAATGCTTTTCTAACAGGGTTATGCTATTCTGTAACACTAAATGTCTGTCTTTTCTCTTAAAAGATTAAGT
TTTATTAATTTTGTCATACATTTCTCTATTTGAATATATCTTAACCATTTTATGTTCCAAATTCGTTTTTTGTCCAAGACATTCTATCAG
AATTTTACTTGCCTCTATAATCTGAAAAATGGGTTCTAGAATGTCCCACTTGCTGTCTCTTAGAGGCTGAGCTTCATTTCTATGAGCAAA
GAGCTCATTTAGCAATGTAGTTATTTCAGTATTTATTTCTATTATGGAATCCCTGGGGTTCAGAATGTAACTTTGTACATGAGATATATA

>54133_54133_5_MKS1-SPAG9_MKS1_chr17_56289739_ENST00000537529_SPAG9_chr17_49109083_ENST00000262013_length(amino acids)=1370AA_BP=296
MMAVPVSSFAQRTRSRFRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETAC
QSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEE
FVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEER
ERRVFKDLYGRHKEYLSSLVGTDFEMVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEGFVKVTDAPNKS
EISKHIEVQVAQETRNVSTGSAENEEKSEVQAIIESTPELDMDKDLSGYKGSSTPTKGIENKAFDRNTESLFEELSSAGSGLIGDVDEGA
DLLGMGREVENLILENTQLLETKNALNIVKNDLIAKVDELTCEKDVLQGELEAVKQAKLKLEEKNRELEEELRKARAEAEDARQKAKDDD
DSDIPTAQRKRFTRVEMARVLMERNQYKERLMELQEAVRWTEMIRASRENPAMQEKKRSSIWQFFSRLFSSSSNTTKKPEPPVNLKYNAP
TSHVTPSVKKRSSTLSQLPGDKSKAFDFLSEETEASLASRREQKREQYRQVKAHVQKEDGRVQAFGWSLPQKYKQVTNGQGENKMKNLPV
PVYLRPLDEKDTSMKLWCAVGVNLSGGKTRDGGSVVGASVFYKDVAGLDTEGSKQRSASQSSLDKLDQELKEQQKELKNQEELSSLVWIC
TSTHSATKVLIIDAVQPGNILDSFTVCNSHVLCIASVPGARETDYPAGEDLSESGQVDKASLCGSMTSNSSAETDSLLGGITVVGCSAEG
VTGAATSPSTNGASPVMDKPPEMEAENSEVDENVPTAEEATEATEGNAGSAEDTVDISQTGVYTEHVFTDPLGVQIPEDLSPVYQSSNDS
DAYKDQISVLPNEQDLVREEAQKMSSLLPTMWLGAQNGCLYVHSSVAQWRKCLHSIKLKDSILSIVHVKGIVLVALADGTLAIFHRGVDG
QWDLSNYHLLDLGRPHHSIRCMTVVHDKVWCGYRNKIYVVQPKAMKIEKSFDAHPRKESQVRQLAWVGDGVWVSIRLDSTLRLYHAHTYQ
HLQDVDIEPYVSKMLGTGKLGFSFVRITALMVSCNRLWVGTGNGVIISIPLTETNKTSGVPGNRPGSVIRVYGDENSDKVTPGTFIPYCS
MAHAQLCFHGHRDAVKFFVAVPGQVISPQSSSSGTDLTGDKAGPSAQEPGSQTPLKSMLVISGGEGYIDFRMGDEGGESELLGEDLPLEP

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

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Fusion Gene PPI Analysis for MKS1-SPAG9


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


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Related Drugs for MKS1-SPAG9


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 MKS1-SPAG9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMKS1C3714506Meckel syndrome type 17CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMKS1C2673873BARDET-BIEDL SYNDROME 134CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMKS1C0265215Meckel-Gruber syndrome3ORPHANET
HgeneMKS1C0431399Familial aplasia of the vermis2GENOMICS_ENGLAND;ORPHANET
HgeneMKS1C0752166Bardet-Biedl Syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneMKS1C4310705JOUBERT SYNDROME 282GENOMICS_ENGLAND
HgeneMKS1C0014067Occipital Encephalocele1GENOMICS_ENGLAND
HgeneMKS1C0015397Disorder of eye1GENOMICS_ENGLAND
HgeneMKS1C0151650Renal fibrosis1GENOMICS_ENGLAND
HgeneMKS1C0152427Polydactyly1GENOMICS_ENGLAND
HgeneMKS1C1567435Polycystic Kidney - body part1GENOMICS_ENGLAND
HgeneMKS1C2936862Bardet-Biedl syndrome 1 (disorder)1GENOMICS_ENGLAND
HgeneMKS1C4274118Joubert syndrome with ocular defect1ORPHANET
HgeneMKS1C4551568Joubert syndrome 11ORPHANET