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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-KSR1 (FusionGDB2 ID:54132)

Fusion Gene Summary for MKS1-KSR1

check button Fusion gene summary
Fusion gene informationFusion gene name: MKS1-KSR1
Fusion gene ID: 54132
HgeneTgene
Gene symbol

MKS1

KSR1

Gene ID

54903

8844

Gene nameMKS transition zone complex subunit 1kinase suppressor of ras 1
SynonymsBBS13|JBTS28|MES|MKS|POC12KSR|RSU2
Cytomap

17q22

17q11.2

Type of geneprotein-codingprotein-coding
DescriptionMeckel syndrome type 1 proteinPOC12 centriolar protein homologkinase suppressor of Ras 1
Modification date2020031320200327
UniProtAcc.

Q8IVT5

Ensembl transtripts involved in fusion geneENST00000313863, ENST00000337050, 
ENST00000393119, ENST00000537529, 
ENST00000546108, 
ENST00000268763, 
ENST00000398988, ENST00000578981, 
ENST00000581975, ENST00000582410, 
ENST00000319524, ENST00000509603, 
Fusion gene scores* DoF score3 X 4 X 1=1213 X 9 X 7=819
# samples 312
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/819*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MKS1 [Title/Abstract] AND KSR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMKS1(56294027)-KSR1(25904518), # samples:1
MKS1(56293449)-KSR1(25909672), # samples:1
Anticipated loss of major functional domain due to fusion event.MKS1-KSR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MKS1-KSR1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
MKS1-KSR1 seems lost the major protein functional domain in Tgene partner, which is a kinase 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
TgeneKSR1

GO:0000185

activation of MAPKKK activity

29433126


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 KSR1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-E2-A14V-01AMKS1chr17

56293449

-KSR1chr17

25909672

+
ChimerDB4BRCATCGA-E2-A14V-01AMKS1chr17

56294027

-KSR1chr17

25904518

+


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Fusion Gene ORF analysis for MKS1-KSR1

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-5UTRENST00000313863ENST00000268763MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000313863ENST00000398988MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000337050ENST00000268763MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000337050ENST00000398988MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000393119ENST00000268763MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000393119ENST00000398988MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000537529ENST00000268763MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-5UTRENST00000537529ENST00000398988MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000313863ENST00000578981MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000313863ENST00000578981MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000313863ENST00000581975MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000313863ENST00000581975MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000313863ENST00000582410MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000313863ENST00000582410MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000337050ENST00000578981MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000337050ENST00000578981MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000337050ENST00000581975MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000337050ENST00000581975MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000337050ENST00000582410MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000337050ENST00000582410MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000393119ENST00000578981MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000393119ENST00000578981MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000393119ENST00000581975MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000393119ENST00000581975MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000393119ENST00000582410MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000393119ENST00000582410MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000537529ENST00000578981MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000537529ENST00000578981MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000537529ENST00000581975MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000537529ENST00000581975MKS1chr17

56294027

-KSR1chr17

25904518

+
5CDS-intronENST00000537529ENST00000582410MKS1chr17

56293449

-KSR1chr17

25909672

+
5CDS-intronENST00000537529ENST00000582410MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-3CDSENST00000546108ENST00000268763MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-3CDSENST00000546108ENST00000319524MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-3CDSENST00000546108ENST00000319524MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-3CDSENST00000546108ENST00000398988MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-3CDSENST00000546108ENST00000509603MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-3CDSENST00000546108ENST00000509603MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-5UTRENST00000546108ENST00000268763MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-5UTRENST00000546108ENST00000398988MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-intronENST00000546108ENST00000578981MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-intronENST00000546108ENST00000578981MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-intronENST00000546108ENST00000581975MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-intronENST00000546108ENST00000581975MKS1chr17

56294027

-KSR1chr17

25904518

+
5UTR-intronENST00000546108ENST00000582410MKS1chr17

56293449

-KSR1chr17

25909672

+
5UTR-intronENST00000546108ENST00000582410MKS1chr17

56294027

-KSR1chr17

25904518

+
Frame-shiftENST00000313863ENST00000268763MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000313863ENST00000319524MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000313863ENST00000319524MKS1chr17

56294027

-KSR1chr17

25904518

+
Frame-shiftENST00000313863ENST00000398988MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000313863ENST00000509603MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000313863ENST00000509603MKS1chr17

56294027

-KSR1chr17

25904518

+
Frame-shiftENST00000337050ENST00000268763MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000337050ENST00000319524MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000337050ENST00000398988MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000337050ENST00000509603MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000393119ENST00000268763MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000393119ENST00000319524MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000393119ENST00000398988MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000393119ENST00000509603MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000537529ENST00000268763MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000537529ENST00000319524MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000537529ENST00000398988MKS1chr17

56293449

-KSR1chr17

25909672

+
Frame-shiftENST00000537529ENST00000509603MKS1chr17

56293449

-KSR1chr17

25909672

+
In-frameENST00000337050ENST00000319524MKS1chr17

56294027

-KSR1chr17

25904518

+
In-frameENST00000337050ENST00000509603MKS1chr17

56294027

-KSR1chr17

25904518

+
In-frameENST00000393119ENST00000319524MKS1chr17

56294027

-KSR1chr17

25904518

+
In-frameENST00000393119ENST00000509603MKS1chr17

56294027

-KSR1chr17

25904518

+
In-frameENST00000537529ENST00000319524MKS1chr17

56294027

-KSR1chr17

25904518

+
In-frameENST00000537529ENST00000509603MKS1chr17

56294027

-KSR1chr17

25904518

+

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)
ENST00000393119MKS1chr1756294027-ENST00000509603KSR1chr1725904518+2595336752594840
ENST00000393119MKS1chr1756294027-ENST00000319524KSR1chr1725904518+3035336752735886
ENST00000337050MKS1chr1756294027-ENST00000509603KSR1chr1725904518+2530271102529840
ENST00000337050MKS1chr1756294027-ENST00000319524KSR1chr1725904518+2970271102670886
ENST00000537529MKS1chr1756294027-ENST00000509603KSR1chr1725904518+2584325912583831
ENST00000537529MKS1chr1756294027-ENST00000319524KSR1chr1725904518+3024325912724877

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
ENST00000393119ENST00000509603MKS1chr1756294027-KSR1chr1725904518+0.54099220.45900783
ENST00000393119ENST00000319524MKS1chr1756294027-KSR1chr1725904518+0.0159364320.9840636
ENST00000337050ENST00000509603MKS1chr1756294027-KSR1chr1725904518+0.484861460.5151385
ENST00000337050ENST00000319524MKS1chr1756294027-KSR1chr1725904518+0.0173636340.98263633
ENST00000537529ENST00000509603MKS1chr1756294027-KSR1chr1725904518+0.72112990.2788701
ENST00000537529ENST00000319524MKS1chr1756294027-KSR1chr1725904518+0.0226347170.9773653

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Fusion Genomic Features for MKS1-KSR1


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

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 MKS1-KSR1


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/chr17:56294027/chr17:25904518)
- 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
.KSR1

Q8IVT5

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: Part of a multiprotein signaling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases (By similarity). Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2 (PubMed:29433126). Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP (By similarity). Its kinase activity is unsure (By similarity). Some protein kinase activity has been detected in vitro, however the physiological relevance of this activity is unknown (By similarity). {ECO:0000250|UniProtKB:Q61097, ECO:0000269|PubMed:29433126}.

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
TgeneKSR1chr17:56294027chr17:25904518ENST0000026876322217_210787.0Compositional biasNote=Poly-Gly
TgeneKSR1chr17:56294027chr17:25904518ENST00000268763222289_2920787.0Compositional biasNote=Poly-Pro
TgeneKSR1chr17:56294027chr17:25904518ENST00000268763222613_8830787.0DomainProtein kinase
TgeneKSR1chr17:56294027chr17:25904518ENST00000268763222619_6270787.0Nucleotide bindingATP
TgeneKSR1chr17:56294027chr17:25904518ENST000002687632221_1720787.0RegionMediates association with membranes
TgeneKSR1chr17:56294027chr17:25904518ENST00000268763222347_3910787.0Zinc fingerPhorbol-ester/DAG-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMKS1chr17:56294027chr17:25904518ENST00000393119-318311_43987560.0DomainC2 B9-type
HgeneMKS1chr17:56294027chr17:25904518ENST00000537529-318311_43977550.0DomainC2 B9-type


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Fusion Gene Sequence for MKS1-KSR1


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.
>54132_54132_1_MKS1-KSR1_MKS1_chr17_56294027_ENST00000337050_KSR1_chr17_25904518_ENST00000319524_length(transcript)=2970nt_BP=271nt
CGCAGCTGTCATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCG
AGTCCACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTT
TAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCA
GGAGATCCCCCGAGACCTCACGCTGGATGCCCTGCTGGAGATGAATGAGGCCAAGGTGAAGGAGACGCTGCGGCGCTGTGGGGCCAGCGG
GGATGAGTGTGGCCGTCTGCAGTATGCCCTCACCTGCCTGCGGAAGGTGACAGGCCTGGGAGGGGAGCACAAGGAGGACTCCAGTTGGAG
TTCATTGGATGCGCGGCGGGAAAGTGGCTCAGGGCCTTCCACGGACACCCTCTCAGCAGCCAGCCTGCCCTGGCCCCCAGGGAGCTCCCA
GCTGGGCAGAGCAGGCAACAGCGCCCAGGGCCCACGCTCCATCTCCGTGTCAGCTCTGCCCGCCTCAGACTCCCCCACCCCCAGCTTCAG
TGAGGGCCTCTCAGACACCTGTATTCCCCTGCACGCCAGCGGCCGGCTGACCCCCCGTGCCCTGCACAGCTTCATCACCCCGCCCACCAC
ACCCCAGCTGCGACGGCACACCAAGCTGAAGCCACCACGGACGCCCCCCCCACCCAGCCGCAAGGTCTTCCAGCTGCTGCCCAGCTTCCC
CACACTCACCCGGAGCAAGTCCCATGAGTCTCAGCTGGGGAACCGCATTGATGACGTCTCCTCGATGAGGTTTGATCTCTCGCATGGATC
CCCACAGATGGTACGGAGGGATATCGGGCTGTCGGTGACGCACAGGTTCTCCACCAAGTCCTGGCTGTCGCAGGTCTGCCACGTGTGCCA
GAAGAGCATGATATTTGGAGTGAAGTGCAAGCATTGCAGGTTGAAGTGTCACAACAAATGTACCAAAGAAGCCCCTGCCTGTAGAATATC
CTTCCTGCCACTAACTCGGCTTCGGAGGACAGAATCTGTCCCCTCGGACATCAACAACCCGGTGGACAGAGCAGCCGAACCCCATTTTGG
AACCCTCCCCAAAGCACTGACAAAGAAGGAGCACCCTCCGGCCATGAATCACCTGGACTCCAGCAGCAACCCTTCCTCCACCACCTCCTC
CACACCCTCCTCACCGGCGCCCTTCCCGACATCATCCAACCCATCCAGCGCCACCACGCCCCCCAACCCCTCACCTGGCCAGCGGGACAG
CAGGTTCAACTTCCCAGCTGCCTACTTCATTCATCATAGACAGCAGTTTATCTTTCCAGTGCCATCTGCTGGCCATTGCTGGAAATGCCT
CCTTATTGCAGAAAGTTTAAAGGAAAACGCTTTCAACATTTCAGCCTTTGCACACGCAGCCCCGCTCCCTGAAGCTGCCGACGGTACCCG
GCTCGATGACCAGCCGAAAGCAGATGTGTTGGAAGCTCACGAAGCGGAGGCTGAGGAGCCAGAGGCTGGCAAGTCAGAGGCAGAAGACGA
TGAGGACGAGGTGGACGACTTGCCGAGCTCTCGCCGGCCCTGGCGGGGCCCCATCTCTCGCAAGGCCAGCCAGACCAGCGTGTACCTGCA
GGAGTGGGACATCCCCTTCGAGCAGGTAGAGCTGGGCGAGCCCATCGGGCAGGGCCGCTGGGGCCGGGTGCACCGCGGCCGCTGGCATGG
CGAGGTGGCCATTCGCCTGCTGGAGATGGACGGCCACAACCAGGACCACCTGAAGCTCTTCAAGAAAGAGGTGATGAACTACCGGCAGAC
GCGGCATGAGAACGTGGTGCTCTTCATGGGGGCCTGCATGAACCCGCCCCACCTGGCCATTATCACCAGCTTCTGCAAGGGGCGGACGTT
GCACTCGTTTGTGAGGGACCCCAAGACGTCTCTGGACATCAACAAGACGAGGCAAATCGCTCAGGAGATCATCAAGGGCATGGGATATCT
TCATGCCAAGGGCATCGTACACAAAGATCTCAAATCTAAGAACGTCTTCTATGACAACGGCAAGGTGGTCATCACAGACTTCGGGCTGTT
TGGGATCTCAGGCGTGGTCCGAGAGGGACGGCGTGAGAACCAGCTAAAGCTGTCCCACGACTGGCTGTGCTATCTGGCCCCTGAGATTGT
ACGCGAGATGACCCCCGGGAAGGACGAGGATCAGCTGCCATTCTCCAAAGCTGCTGATGTCTATGCATTTGGGACTGTTTGGTATGAGCT
GCAAGCAAGAGACTGGCCCTTGAAGAACCAGGCTGCAGAGGCATCCATCTGGCAGATTGGAAGCGGGGAAGGAATGAAGCGTGTCCTGAC
TTCTGTCAGCTTGGGGAAGGAAGTCAGTGAGATCCTGTCGGCCTGCTGGGCTTTCGACCTGCAGGAGAGACCCAGCTTCAGCCTGCTGAT
GGACATGCTGGAGAAACTTCCCAAGCTGAACCGGCGGCTCTCCCACCCTGGACACTTCTGGAAGTCAGCTGACATTAACAGCAGCAAAGT
TGTACCCCGGTTTGAAAGGTTTGGCTTGGGCGTCCTGGAGTCCAGTAATCCAAAGATGTAGCCAGCCATATGGTTTTTCGCTGCTGATCT
CTTTCTTTTTAAAATGTGTTTCTGAAACATCCCAACAACCACCACGACAAAAAAACACTGCCTGCCCAGCGCTGCAAACCAGGAGCACAC
GTCCTAGATTCAGACTGTTGGCCATAAACCCCACTCGGGAGATGGAGCTGCACCTGCTATTTCTTAAAATGACACCACCAACAACCAAAC
CTGTCATGACAGACAGCAAATGTTTACACGTATATTTCTCCTGAGTGAACCTGATGTTTTACAATAGGTAATAATAAAAACAGTCTGTGC

>54132_54132_1_MKS1-KSR1_MKS1_chr17_56294027_ENST00000337050_KSR1_chr17_25904518_ENST00000319524_length(amino acids)=886AA_BP=87
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIP
RDLTLDALLEMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGR
AGNSAQGPRSISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLT
RSKSHESQLGNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLP
LTRLRRTESVPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFN
FPAAYFIHHRQQFIFPVPSAGHCWKCLLIAESLKENAFNISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDE
VDDLPSSRRPWRGPISRKASQTSVYLQEWDIPFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHE
NVVLFMGACMNPPHLAIITSFCKGRTLHSFVRDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGIS
GVVREGRRENQLKLSHDWLCYLAPEIVREMTPGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVS

--------------------------------------------------------------
>54132_54132_2_MKS1-KSR1_MKS1_chr17_56294027_ENST00000337050_KSR1_chr17_25904518_ENST00000509603_length(transcript)=2530nt_BP=271nt
CGCAGCTGTCATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCG
AGTCCACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTT
TAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCA
GGAGATCCCCCGAGACCTCACGCTGGATGCCCTGCTGGAGATGAATGAGGCCAAGGTGAAGGAGACGCTGCGGCGCTGTGGGGCCAGCGG
GGATGAGTGTGGCCGTCTGCAGTATGCCCTCACCTGCCTGCGGAAGGTGACAGGCCTGGGAGGGGAGCACAAGGAGGACTCCAGTTGGAG
TTCATTGGATGCGCGGCGGGAAAGTGGCTCAGGGCCTTCCACGGACACCCTCTCAGCAGCCAGCCTGCCCTGGCCCCCAGGGAGCTCCCA
GCTGGGCAGAGCAGGCAACAGCGCCCAGGGCCCACGCTCCATCTCCGTGTCAGCTCTGCCCGCCTCAGACTCCCCCACCCCCAGCTTCAG
TGAGGGCCTCTCAGACACCTGTATTCCCCTGCACGCCAGCGGCCGGCTGACCCCCCGTGCCCTGCACAGCTTCATCACCCCGCCCACCAC
ACCCCAGCTGCGACGGCACACCAAGCTGAAGCCACCACGGACGCCCCCCCCACCCAGCCGCAAGGTCTTCCAGCTGCTGCCCAGCTTCCC
CACACTCACCCGGAGCAAGTCCCATGAGTCTCAGCTGGGGAACCGCATTGATGACGTCTCCTCGATGAGGTTTGATCTCTCGCATGGATC
CCCACAGATGGTACGGAGGGATATCGGGCTGTCGGTGACGCACAGGTTCTCCACCAAGTCCTGGCTGTCGCAGGTCTGCCACGTGTGCCA
GAAGAGCATGATATTTGGAGTGAAGTGCAAGCATTGCAGGTTGAAGTGTCACAACAAATGTACCAAAGAAGCCCCTGCCTGTAGAATATC
CTTCCTGCCACTAACTCGGCTTCGGAGGACAGAATCTGTCCCCTCGGACATCAACAACCCGGTGGACAGAGCAGCCGAACCCCATTTTGG
AACCCTCCCCAAAGCACTGACAAAGAAGGAGCACCCTCCGGCCATGAATCACCTGGACTCCAGCAGCAACCCTTCCTCCACCACCTCCTC
CACACCCTCCTCACCGGCGCCCTTCCCGACATCATCCAACCCATCCAGCGCCACCACGCCCCCCAACCCCTCACCTGGCCAGCGGGACAG
CAGGTTCAACTTCCCAGCTGCCTACTTCATTCATCATAGACAGCAGTTTATCTTTCCAGACATTTCAGCCTTTGCACACGCAGCCCCGCT
CCCTGAAGCTGCCGACGGTACCCGGCTCGATGACCAGCCGAAAGCAGATGTGTTGGAAGCTCACGAAGCGGAGGCTGAGGAGCCAGAGGC
TGGCAAGTCAGAGGCAGAAGACGATGAGGACGAGGTGGACGACTTGCCGAGCTCTCGCCGGCCCTGGCGGGGCCCCATCTCTCGCAAGGC
CAGCCAGACCAGCGTGTACCTGCAGGAGTGGGACATCCCCTTCGAGCAGGTAGAGCTGGGCGAGCCCATCGGGCAGGGCCGCTGGGGCCG
GGTGCACCGCGGCCGCTGGCATGGCGAGGTGGCCATTCGCCTGCTGGAGATGGACGGCCACAACCAGGACCACCTGAAGCTCTTCAAGAA
AGAGGTGATGAACTACCGGCAGACGCGGCATGAGAACGTGGTGCTCTTCATGGGGGCCTGCATGAACCCGCCCCACCTGGCCATTATCAC
CAGCTTCTGCAAGGGGCGGACGTTGCACTCGTTTGTGAGGGACCCCAAGACGTCTCTGGACATCAACAAGACGAGGCAAATCGCTCAGGA
GATCATCAAGGGCATGGGATATCTTCATGCCAAGGGCATCGTACACAAAGATCTCAAATCTAAGAACGTCTTCTATGACAACGGCAAGGT
GGTCATCACAGACTTCGGGCTGTTTGGGATCTCAGGCGTGGTCCGAGAGGGACGGCGTGAGAACCAGCTAAAGCTGTCCCACGACTGGCT
GTGCTATCTGGCCCCTGAGATTGTACGCGAGATGACCCCCGGGAAGGACGAGGATCAGCTGCCATTCTCCAAAGCTGCTGATGTCTATGC
ATTTGGGACTGTTTGGTATGAGCTGCAAGCAAGAGACTGGCCCTTGAAGAACCAGGCTGCAGAGGCATCCATCTGGCAGATTGGAAGCGG
GGAAGGAATGAAGCGTGTCCTGACTTCTGTCAGCTTGGGGAAGGAAGTCAGTGAGATCCTGTCGGCCTGCTGGGCTTTCGACCTGCAGGA
GAGACCCAGCTTCAGCCTGCTGATGGACATGCTGGAGAAACTTCCCAAGCTGAACCGGCGGCTCTCCCACCCTGGACACTTCTGGAAGTC

>54132_54132_2_MKS1-KSR1_MKS1_chr17_56294027_ENST00000337050_KSR1_chr17_25904518_ENST00000509603_length(amino acids)=840AA_BP=87
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIP
RDLTLDALLEMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGR
AGNSAQGPRSISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLT
RSKSHESQLGNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLP
LTRLRRTESVPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFN
FPAAYFIHHRQQFIFPDISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDEVDDLPSSRRPWRGPISRKASQT
SVYLQEWDIPFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHENVVLFMGACMNPPHLAIITSFC
KGRTLHSFVRDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGISGVVREGRRENQLKLSHDWLCYL
APEIVREMTPGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVSLGKEVSEILSACWAFDLQERPS

--------------------------------------------------------------
>54132_54132_3_MKS1-KSR1_MKS1_chr17_56294027_ENST00000393119_KSR1_chr17_25904518_ENST00000319524_length(transcript)=3035nt_BP=336nt
CCGATCCAGCGTCTCCGTTGCCAGGAAAACAGAGCGGCGCGCTTTCCGGCGCAGTCGCGGCGCGTCGCAGCTGTCATGGCGGAGACCGTC
TGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTCCACCTGCAAAGAATCACATCA
AGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGA
CACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGGAGATCCCCCGAGACCTCACGCTG
GATGCCCTGCTGGAGATGAATGAGGCCAAGGTGAAGGAGACGCTGCGGCGCTGTGGGGCCAGCGGGGATGAGTGTGGCCGTCTGCAGTAT
GCCCTCACCTGCCTGCGGAAGGTGACAGGCCTGGGAGGGGAGCACAAGGAGGACTCCAGTTGGAGTTCATTGGATGCGCGGCGGGAAAGT
GGCTCAGGGCCTTCCACGGACACCCTCTCAGCAGCCAGCCTGCCCTGGCCCCCAGGGAGCTCCCAGCTGGGCAGAGCAGGCAACAGCGCC
CAGGGCCCACGCTCCATCTCCGTGTCAGCTCTGCCCGCCTCAGACTCCCCCACCCCCAGCTTCAGTGAGGGCCTCTCAGACACCTGTATT
CCCCTGCACGCCAGCGGCCGGCTGACCCCCCGTGCCCTGCACAGCTTCATCACCCCGCCCACCACACCCCAGCTGCGACGGCACACCAAG
CTGAAGCCACCACGGACGCCCCCCCCACCCAGCCGCAAGGTCTTCCAGCTGCTGCCCAGCTTCCCCACACTCACCCGGAGCAAGTCCCAT
GAGTCTCAGCTGGGGAACCGCATTGATGACGTCTCCTCGATGAGGTTTGATCTCTCGCATGGATCCCCACAGATGGTACGGAGGGATATC
GGGCTGTCGGTGACGCACAGGTTCTCCACCAAGTCCTGGCTGTCGCAGGTCTGCCACGTGTGCCAGAAGAGCATGATATTTGGAGTGAAG
TGCAAGCATTGCAGGTTGAAGTGTCACAACAAATGTACCAAAGAAGCCCCTGCCTGTAGAATATCCTTCCTGCCACTAACTCGGCTTCGG
AGGACAGAATCTGTCCCCTCGGACATCAACAACCCGGTGGACAGAGCAGCCGAACCCCATTTTGGAACCCTCCCCAAAGCACTGACAAAG
AAGGAGCACCCTCCGGCCATGAATCACCTGGACTCCAGCAGCAACCCTTCCTCCACCACCTCCTCCACACCCTCCTCACCGGCGCCCTTC
CCGACATCATCCAACCCATCCAGCGCCACCACGCCCCCCAACCCCTCACCTGGCCAGCGGGACAGCAGGTTCAACTTCCCAGCTGCCTAC
TTCATTCATCATAGACAGCAGTTTATCTTTCCAGTGCCATCTGCTGGCCATTGCTGGAAATGCCTCCTTATTGCAGAAAGTTTAAAGGAA
AACGCTTTCAACATTTCAGCCTTTGCACACGCAGCCCCGCTCCCTGAAGCTGCCGACGGTACCCGGCTCGATGACCAGCCGAAAGCAGAT
GTGTTGGAAGCTCACGAAGCGGAGGCTGAGGAGCCAGAGGCTGGCAAGTCAGAGGCAGAAGACGATGAGGACGAGGTGGACGACTTGCCG
AGCTCTCGCCGGCCCTGGCGGGGCCCCATCTCTCGCAAGGCCAGCCAGACCAGCGTGTACCTGCAGGAGTGGGACATCCCCTTCGAGCAG
GTAGAGCTGGGCGAGCCCATCGGGCAGGGCCGCTGGGGCCGGGTGCACCGCGGCCGCTGGCATGGCGAGGTGGCCATTCGCCTGCTGGAG
ATGGACGGCCACAACCAGGACCACCTGAAGCTCTTCAAGAAAGAGGTGATGAACTACCGGCAGACGCGGCATGAGAACGTGGTGCTCTTC
ATGGGGGCCTGCATGAACCCGCCCCACCTGGCCATTATCACCAGCTTCTGCAAGGGGCGGACGTTGCACTCGTTTGTGAGGGACCCCAAG
ACGTCTCTGGACATCAACAAGACGAGGCAAATCGCTCAGGAGATCATCAAGGGCATGGGATATCTTCATGCCAAGGGCATCGTACACAAA
GATCTCAAATCTAAGAACGTCTTCTATGACAACGGCAAGGTGGTCATCACAGACTTCGGGCTGTTTGGGATCTCAGGCGTGGTCCGAGAG
GGACGGCGTGAGAACCAGCTAAAGCTGTCCCACGACTGGCTGTGCTATCTGGCCCCTGAGATTGTACGCGAGATGACCCCCGGGAAGGAC
GAGGATCAGCTGCCATTCTCCAAAGCTGCTGATGTCTATGCATTTGGGACTGTTTGGTATGAGCTGCAAGCAAGAGACTGGCCCTTGAAG
AACCAGGCTGCAGAGGCATCCATCTGGCAGATTGGAAGCGGGGAAGGAATGAAGCGTGTCCTGACTTCTGTCAGCTTGGGGAAGGAAGTC
AGTGAGATCCTGTCGGCCTGCTGGGCTTTCGACCTGCAGGAGAGACCCAGCTTCAGCCTGCTGATGGACATGCTGGAGAAACTTCCCAAG
CTGAACCGGCGGCTCTCCCACCCTGGACACTTCTGGAAGTCAGCTGACATTAACAGCAGCAAAGTTGTACCCCGGTTTGAAAGGTTTGGC
TTGGGCGTCCTGGAGTCCAGTAATCCAAAGATGTAGCCAGCCATATGGTTTTTCGCTGCTGATCTCTTTCTTTTTAAAATGTGTTTCTGA
AACATCCCAACAACCACCACGACAAAAAAACACTGCCTGCCCAGCGCTGCAAACCAGGAGCACACGTCCTAGATTCAGACTGTTGGCCAT
AAACCCCACTCGGGAGATGGAGCTGCACCTGCTATTTCTTAAAATGACACCACCAACAACCAAACCTGTCATGACAGACAGCAAATGTTT

>54132_54132_3_MKS1-KSR1_MKS1_chr17_56294027_ENST00000393119_KSR1_chr17_25904518_ENST00000319524_length(amino acids)=886AA_BP=87
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIP
RDLTLDALLEMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGR
AGNSAQGPRSISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLT
RSKSHESQLGNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLP
LTRLRRTESVPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFN
FPAAYFIHHRQQFIFPVPSAGHCWKCLLIAESLKENAFNISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDE
VDDLPSSRRPWRGPISRKASQTSVYLQEWDIPFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHE
NVVLFMGACMNPPHLAIITSFCKGRTLHSFVRDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGIS
GVVREGRRENQLKLSHDWLCYLAPEIVREMTPGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVS

--------------------------------------------------------------
>54132_54132_4_MKS1-KSR1_MKS1_chr17_56294027_ENST00000393119_KSR1_chr17_25904518_ENST00000509603_length(transcript)=2595nt_BP=336nt
CCGATCCAGCGTCTCCGTTGCCAGGAAAACAGAGCGGCGCGCTTTCCGGCGCAGTCGCGGCGCGTCGCAGCTGTCATGGCGGAGACCGTC
TGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTCCACCTGCAAAGAATCACATCA
AGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGA
CACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGGAGATCCCCCGAGACCTCACGCTG
GATGCCCTGCTGGAGATGAATGAGGCCAAGGTGAAGGAGACGCTGCGGCGCTGTGGGGCCAGCGGGGATGAGTGTGGCCGTCTGCAGTAT
GCCCTCACCTGCCTGCGGAAGGTGACAGGCCTGGGAGGGGAGCACAAGGAGGACTCCAGTTGGAGTTCATTGGATGCGCGGCGGGAAAGT
GGCTCAGGGCCTTCCACGGACACCCTCTCAGCAGCCAGCCTGCCCTGGCCCCCAGGGAGCTCCCAGCTGGGCAGAGCAGGCAACAGCGCC
CAGGGCCCACGCTCCATCTCCGTGTCAGCTCTGCCCGCCTCAGACTCCCCCACCCCCAGCTTCAGTGAGGGCCTCTCAGACACCTGTATT
CCCCTGCACGCCAGCGGCCGGCTGACCCCCCGTGCCCTGCACAGCTTCATCACCCCGCCCACCACACCCCAGCTGCGACGGCACACCAAG
CTGAAGCCACCACGGACGCCCCCCCCACCCAGCCGCAAGGTCTTCCAGCTGCTGCCCAGCTTCCCCACACTCACCCGGAGCAAGTCCCAT
GAGTCTCAGCTGGGGAACCGCATTGATGACGTCTCCTCGATGAGGTTTGATCTCTCGCATGGATCCCCACAGATGGTACGGAGGGATATC
GGGCTGTCGGTGACGCACAGGTTCTCCACCAAGTCCTGGCTGTCGCAGGTCTGCCACGTGTGCCAGAAGAGCATGATATTTGGAGTGAAG
TGCAAGCATTGCAGGTTGAAGTGTCACAACAAATGTACCAAAGAAGCCCCTGCCTGTAGAATATCCTTCCTGCCACTAACTCGGCTTCGG
AGGACAGAATCTGTCCCCTCGGACATCAACAACCCGGTGGACAGAGCAGCCGAACCCCATTTTGGAACCCTCCCCAAAGCACTGACAAAG
AAGGAGCACCCTCCGGCCATGAATCACCTGGACTCCAGCAGCAACCCTTCCTCCACCACCTCCTCCACACCCTCCTCACCGGCGCCCTTC
CCGACATCATCCAACCCATCCAGCGCCACCACGCCCCCCAACCCCTCACCTGGCCAGCGGGACAGCAGGTTCAACTTCCCAGCTGCCTAC
TTCATTCATCATAGACAGCAGTTTATCTTTCCAGACATTTCAGCCTTTGCACACGCAGCCCCGCTCCCTGAAGCTGCCGACGGTACCCGG
CTCGATGACCAGCCGAAAGCAGATGTGTTGGAAGCTCACGAAGCGGAGGCTGAGGAGCCAGAGGCTGGCAAGTCAGAGGCAGAAGACGAT
GAGGACGAGGTGGACGACTTGCCGAGCTCTCGCCGGCCCTGGCGGGGCCCCATCTCTCGCAAGGCCAGCCAGACCAGCGTGTACCTGCAG
GAGTGGGACATCCCCTTCGAGCAGGTAGAGCTGGGCGAGCCCATCGGGCAGGGCCGCTGGGGCCGGGTGCACCGCGGCCGCTGGCATGGC
GAGGTGGCCATTCGCCTGCTGGAGATGGACGGCCACAACCAGGACCACCTGAAGCTCTTCAAGAAAGAGGTGATGAACTACCGGCAGACG
CGGCATGAGAACGTGGTGCTCTTCATGGGGGCCTGCATGAACCCGCCCCACCTGGCCATTATCACCAGCTTCTGCAAGGGGCGGACGTTG
CACTCGTTTGTGAGGGACCCCAAGACGTCTCTGGACATCAACAAGACGAGGCAAATCGCTCAGGAGATCATCAAGGGCATGGGATATCTT
CATGCCAAGGGCATCGTACACAAAGATCTCAAATCTAAGAACGTCTTCTATGACAACGGCAAGGTGGTCATCACAGACTTCGGGCTGTTT
GGGATCTCAGGCGTGGTCCGAGAGGGACGGCGTGAGAACCAGCTAAAGCTGTCCCACGACTGGCTGTGCTATCTGGCCCCTGAGATTGTA
CGCGAGATGACCCCCGGGAAGGACGAGGATCAGCTGCCATTCTCCAAAGCTGCTGATGTCTATGCATTTGGGACTGTTTGGTATGAGCTG
CAAGCAAGAGACTGGCCCTTGAAGAACCAGGCTGCAGAGGCATCCATCTGGCAGATTGGAAGCGGGGAAGGAATGAAGCGTGTCCTGACT
TCTGTCAGCTTGGGGAAGGAAGTCAGTGAGATCCTGTCGGCCTGCTGGGCTTTCGACCTGCAGGAGAGACCCAGCTTCAGCCTGCTGATG

>54132_54132_4_MKS1-KSR1_MKS1_chr17_56294027_ENST00000393119_KSR1_chr17_25904518_ENST00000509603_length(amino acids)=840AA_BP=87
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIP
RDLTLDALLEMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGR
AGNSAQGPRSISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLT
RSKSHESQLGNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLP
LTRLRRTESVPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFN
FPAAYFIHHRQQFIFPDISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDEVDDLPSSRRPWRGPISRKASQT
SVYLQEWDIPFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHENVVLFMGACMNPPHLAIITSFC
KGRTLHSFVRDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGISGVVREGRRENQLKLSHDWLCYL
APEIVREMTPGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVSLGKEVSEILSACWAFDLQERPS

--------------------------------------------------------------
>54132_54132_5_MKS1-KSR1_MKS1_chr17_56294027_ENST00000537529_KSR1_chr17_25904518_ENST00000319524_length(transcript)=3024nt_BP=325nt
AGTGTGGCATGGTGGAAAAGGTAGAGGGCGAAGACTCAGGCCACCTGGTCCCCGTCATCATTTCTGCATCTATCTGTCTATATGAAGTGG
GCTGATGGCTGTGCCAGTTTCCTCATTTGCACAGCGCACGAGGTCCCGCTTTCGAGTCCACCTGCAAAGAATCACATCAAGCAACTTTCT
TCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGA
GGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGGAGATCCCCCGAGACCTCACGCTGGATGCCCTGCT
GGAGATGAATGAGGCCAAGGTGAAGGAGACGCTGCGGCGCTGTGGGGCCAGCGGGGATGAGTGTGGCCGTCTGCAGTATGCCCTCACCTG
CCTGCGGAAGGTGACAGGCCTGGGAGGGGAGCACAAGGAGGACTCCAGTTGGAGTTCATTGGATGCGCGGCGGGAAAGTGGCTCAGGGCC
TTCCACGGACACCCTCTCAGCAGCCAGCCTGCCCTGGCCCCCAGGGAGCTCCCAGCTGGGCAGAGCAGGCAACAGCGCCCAGGGCCCACG
CTCCATCTCCGTGTCAGCTCTGCCCGCCTCAGACTCCCCCACCCCCAGCTTCAGTGAGGGCCTCTCAGACACCTGTATTCCCCTGCACGC
CAGCGGCCGGCTGACCCCCCGTGCCCTGCACAGCTTCATCACCCCGCCCACCACACCCCAGCTGCGACGGCACACCAAGCTGAAGCCACC
ACGGACGCCCCCCCCACCCAGCCGCAAGGTCTTCCAGCTGCTGCCCAGCTTCCCCACACTCACCCGGAGCAAGTCCCATGAGTCTCAGCT
GGGGAACCGCATTGATGACGTCTCCTCGATGAGGTTTGATCTCTCGCATGGATCCCCACAGATGGTACGGAGGGATATCGGGCTGTCGGT
GACGCACAGGTTCTCCACCAAGTCCTGGCTGTCGCAGGTCTGCCACGTGTGCCAGAAGAGCATGATATTTGGAGTGAAGTGCAAGCATTG
CAGGTTGAAGTGTCACAACAAATGTACCAAAGAAGCCCCTGCCTGTAGAATATCCTTCCTGCCACTAACTCGGCTTCGGAGGACAGAATC
TGTCCCCTCGGACATCAACAACCCGGTGGACAGAGCAGCCGAACCCCATTTTGGAACCCTCCCCAAAGCACTGACAAAGAAGGAGCACCC
TCCGGCCATGAATCACCTGGACTCCAGCAGCAACCCTTCCTCCACCACCTCCTCCACACCCTCCTCACCGGCGCCCTTCCCGACATCATC
CAACCCATCCAGCGCCACCACGCCCCCCAACCCCTCACCTGGCCAGCGGGACAGCAGGTTCAACTTCCCAGCTGCCTACTTCATTCATCA
TAGACAGCAGTTTATCTTTCCAGTGCCATCTGCTGGCCATTGCTGGAAATGCCTCCTTATTGCAGAAAGTTTAAAGGAAAACGCTTTCAA
CATTTCAGCCTTTGCACACGCAGCCCCGCTCCCTGAAGCTGCCGACGGTACCCGGCTCGATGACCAGCCGAAAGCAGATGTGTTGGAAGC
TCACGAAGCGGAGGCTGAGGAGCCAGAGGCTGGCAAGTCAGAGGCAGAAGACGATGAGGACGAGGTGGACGACTTGCCGAGCTCTCGCCG
GCCCTGGCGGGGCCCCATCTCTCGCAAGGCCAGCCAGACCAGCGTGTACCTGCAGGAGTGGGACATCCCCTTCGAGCAGGTAGAGCTGGG
CGAGCCCATCGGGCAGGGCCGCTGGGGCCGGGTGCACCGCGGCCGCTGGCATGGCGAGGTGGCCATTCGCCTGCTGGAGATGGACGGCCA
CAACCAGGACCACCTGAAGCTCTTCAAGAAAGAGGTGATGAACTACCGGCAGACGCGGCATGAGAACGTGGTGCTCTTCATGGGGGCCTG
CATGAACCCGCCCCACCTGGCCATTATCACCAGCTTCTGCAAGGGGCGGACGTTGCACTCGTTTGTGAGGGACCCCAAGACGTCTCTGGA
CATCAACAAGACGAGGCAAATCGCTCAGGAGATCATCAAGGGCATGGGATATCTTCATGCCAAGGGCATCGTACACAAAGATCTCAAATC
TAAGAACGTCTTCTATGACAACGGCAAGGTGGTCATCACAGACTTCGGGCTGTTTGGGATCTCAGGCGTGGTCCGAGAGGGACGGCGTGA
GAACCAGCTAAAGCTGTCCCACGACTGGCTGTGCTATCTGGCCCCTGAGATTGTACGCGAGATGACCCCCGGGAAGGACGAGGATCAGCT
GCCATTCTCCAAAGCTGCTGATGTCTATGCATTTGGGACTGTTTGGTATGAGCTGCAAGCAAGAGACTGGCCCTTGAAGAACCAGGCTGC
AGAGGCATCCATCTGGCAGATTGGAAGCGGGGAAGGAATGAAGCGTGTCCTGACTTCTGTCAGCTTGGGGAAGGAAGTCAGTGAGATCCT
GTCGGCCTGCTGGGCTTTCGACCTGCAGGAGAGACCCAGCTTCAGCCTGCTGATGGACATGCTGGAGAAACTTCCCAAGCTGAACCGGCG
GCTCTCCCACCCTGGACACTTCTGGAAGTCAGCTGACATTAACAGCAGCAAAGTTGTACCCCGGTTTGAAAGGTTTGGCTTGGGCGTCCT
GGAGTCCAGTAATCCAAAGATGTAGCCAGCCATATGGTTTTTCGCTGCTGATCTCTTTCTTTTTAAAATGTGTTTCTGAAACATCCCAAC
AACCACCACGACAAAAAAACACTGCCTGCCCAGCGCTGCAAACCAGGAGCACACGTCCTAGATTCAGACTGTTGGCCATAAACCCCACTC
GGGAGATGGAGCTGCACCTGCTATTTCTTAAAATGACACCACCAACAACCAAACCTGTCATGACAGACAGCAAATGTTTACACGTATATT

>54132_54132_5_MKS1-KSR1_MKS1_chr17_56294027_ENST00000537529_KSR1_chr17_25904518_ENST00000319524_length(amino acids)=877AA_BP=78
MMAVPVSSFAQRTRSRFRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIPRDLTLDALL
EMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGRAGNSAQGPR
SISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLTRSKSHESQL
GNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLPLTRLRRTES
VPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFNFPAAYFIHH
RQQFIFPVPSAGHCWKCLLIAESLKENAFNISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDEVDDLPSSRR
PWRGPISRKASQTSVYLQEWDIPFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHENVVLFMGAC
MNPPHLAIITSFCKGRTLHSFVRDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGISGVVREGRRE
NQLKLSHDWLCYLAPEIVREMTPGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVSLGKEVSEIL

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>54132_54132_6_MKS1-KSR1_MKS1_chr17_56294027_ENST00000537529_KSR1_chr17_25904518_ENST00000509603_length(transcript)=2584nt_BP=325nt
AGTGTGGCATGGTGGAAAAGGTAGAGGGCGAAGACTCAGGCCACCTGGTCCCCGTCATCATTTCTGCATCTATCTGTCTATATGAAGTGG
GCTGATGGCTGTGCCAGTTTCCTCATTTGCACAGCGCACGAGGTCCCGCTTTCGAGTCCACCTGCAAAGAATCACATCAAGCAACTTTCT
TCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGA
GGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGGAGATCCCCCGAGACCTCACGCTGGATGCCCTGCT
GGAGATGAATGAGGCCAAGGTGAAGGAGACGCTGCGGCGCTGTGGGGCCAGCGGGGATGAGTGTGGCCGTCTGCAGTATGCCCTCACCTG
CCTGCGGAAGGTGACAGGCCTGGGAGGGGAGCACAAGGAGGACTCCAGTTGGAGTTCATTGGATGCGCGGCGGGAAAGTGGCTCAGGGCC
TTCCACGGACACCCTCTCAGCAGCCAGCCTGCCCTGGCCCCCAGGGAGCTCCCAGCTGGGCAGAGCAGGCAACAGCGCCCAGGGCCCACG
CTCCATCTCCGTGTCAGCTCTGCCCGCCTCAGACTCCCCCACCCCCAGCTTCAGTGAGGGCCTCTCAGACACCTGTATTCCCCTGCACGC
CAGCGGCCGGCTGACCCCCCGTGCCCTGCACAGCTTCATCACCCCGCCCACCACACCCCAGCTGCGACGGCACACCAAGCTGAAGCCACC
ACGGACGCCCCCCCCACCCAGCCGCAAGGTCTTCCAGCTGCTGCCCAGCTTCCCCACACTCACCCGGAGCAAGTCCCATGAGTCTCAGCT
GGGGAACCGCATTGATGACGTCTCCTCGATGAGGTTTGATCTCTCGCATGGATCCCCACAGATGGTACGGAGGGATATCGGGCTGTCGGT
GACGCACAGGTTCTCCACCAAGTCCTGGCTGTCGCAGGTCTGCCACGTGTGCCAGAAGAGCATGATATTTGGAGTGAAGTGCAAGCATTG
CAGGTTGAAGTGTCACAACAAATGTACCAAAGAAGCCCCTGCCTGTAGAATATCCTTCCTGCCACTAACTCGGCTTCGGAGGACAGAATC
TGTCCCCTCGGACATCAACAACCCGGTGGACAGAGCAGCCGAACCCCATTTTGGAACCCTCCCCAAAGCACTGACAAAGAAGGAGCACCC
TCCGGCCATGAATCACCTGGACTCCAGCAGCAACCCTTCCTCCACCACCTCCTCCACACCCTCCTCACCGGCGCCCTTCCCGACATCATC
CAACCCATCCAGCGCCACCACGCCCCCCAACCCCTCACCTGGCCAGCGGGACAGCAGGTTCAACTTCCCAGCTGCCTACTTCATTCATCA
TAGACAGCAGTTTATCTTTCCAGACATTTCAGCCTTTGCACACGCAGCCCCGCTCCCTGAAGCTGCCGACGGTACCCGGCTCGATGACCA
GCCGAAAGCAGATGTGTTGGAAGCTCACGAAGCGGAGGCTGAGGAGCCAGAGGCTGGCAAGTCAGAGGCAGAAGACGATGAGGACGAGGT
GGACGACTTGCCGAGCTCTCGCCGGCCCTGGCGGGGCCCCATCTCTCGCAAGGCCAGCCAGACCAGCGTGTACCTGCAGGAGTGGGACAT
CCCCTTCGAGCAGGTAGAGCTGGGCGAGCCCATCGGGCAGGGCCGCTGGGGCCGGGTGCACCGCGGCCGCTGGCATGGCGAGGTGGCCAT
TCGCCTGCTGGAGATGGACGGCCACAACCAGGACCACCTGAAGCTCTTCAAGAAAGAGGTGATGAACTACCGGCAGACGCGGCATGAGAA
CGTGGTGCTCTTCATGGGGGCCTGCATGAACCCGCCCCACCTGGCCATTATCACCAGCTTCTGCAAGGGGCGGACGTTGCACTCGTTTGT
GAGGGACCCCAAGACGTCTCTGGACATCAACAAGACGAGGCAAATCGCTCAGGAGATCATCAAGGGCATGGGATATCTTCATGCCAAGGG
CATCGTACACAAAGATCTCAAATCTAAGAACGTCTTCTATGACAACGGCAAGGTGGTCATCACAGACTTCGGGCTGTTTGGGATCTCAGG
CGTGGTCCGAGAGGGACGGCGTGAGAACCAGCTAAAGCTGTCCCACGACTGGCTGTGCTATCTGGCCCCTGAGATTGTACGCGAGATGAC
CCCCGGGAAGGACGAGGATCAGCTGCCATTCTCCAAAGCTGCTGATGTCTATGCATTTGGGACTGTTTGGTATGAGCTGCAAGCAAGAGA
CTGGCCCTTGAAGAACCAGGCTGCAGAGGCATCCATCTGGCAGATTGGAAGCGGGGAAGGAATGAAGCGTGTCCTGACTTCTGTCAGCTT
GGGGAAGGAAGTCAGTGAGATCCTGTCGGCCTGCTGGGCTTTCGACCTGCAGGAGAGACCCAGCTTCAGCCTGCTGATGGACATGCTGGA

>54132_54132_6_MKS1-KSR1_MKS1_chr17_56294027_ENST00000537529_KSR1_chr17_25904518_ENST00000509603_length(amino acids)=831AA_BP=78
MMAVPVSSFAQRTRSRFRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIPRDLTLDALL
EMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGRAGNSAQGPR
SISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLTRSKSHESQL
GNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLPLTRLRRTES
VPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFNFPAAYFIHH
RQQFIFPDISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDEVDDLPSSRRPWRGPISRKASQTSVYLQEWDI
PFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHENVVLFMGACMNPPHLAIITSFCKGRTLHSFV
RDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGISGVVREGRRENQLKLSHDWLCYLAPEIVREMT
PGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVSLGKEVSEILSACWAFDLQERPSFSLLMDMLE

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Fusion Gene PPI Analysis for MKS1-KSR1


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-KSR1


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-KSR1


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