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Fusion Protein:MKS1-KSR1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: MKS1-KSR1 | FusionPDB ID: 54132 | FusionGDB2.0 ID: 54132 | Hgene | Tgene | Gene symbol | MKS1 | KSR1 | Gene ID | 54903 | 8844 |
Gene name | MKS transition zone complex subunit 1 | kinase suppressor of ras 1 | |
Synonyms | BBS13|JBTS28|MES|MKS|POC12 | KSR|RSU2 | |
Cytomap | 17q22 | 17q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | Meckel syndrome type 1 proteinPOC12 centriolar protein homolog | kinase suppressor of Ras 1 | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | Q9NXB0 | Q8IVT5 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000313863, ENST00000337050, ENST00000393119, ENST00000537529, ENST00000546108, | ENST00000268763, ENST00000398988, ENST00000578981, ENST00000581975, ENST00000582410, ENST00000319524, ENST00000509603, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 3 X 4 X 1=12 | 13 X 9 X 7=819 |
# samples | 3 | 12 | |
** MAII score | log2(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 (manual curation of fusion genes in FusionPDB) | PubMed: MKS1 [Title/Abstract] AND KSR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MKS1(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 CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MKS1-KSR1 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-KSR1 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-KSR1 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-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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | KSR1 | GO:0000185 | activation of MAPKKK activity | 29433126 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-E2-A14V-01A | MKS1 | chr17 | 56293449 | - | KSR1 | chr17 | 25909672 | + |
ChimerDB4 | BRCA | TCGA-E2-A14V-01A | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000393119 | MKS1 | chr17 | 56294027 | - | ENST00000509603 | KSR1 | chr17 | 25904518 | + | 2595 | 336 | 75 | 2594 | 840 |
ENST00000393119 | MKS1 | chr17 | 56294027 | - | ENST00000319524 | KSR1 | chr17 | 25904518 | + | 3035 | 336 | 75 | 2735 | 886 |
ENST00000337050 | MKS1 | chr17 | 56294027 | - | ENST00000509603 | KSR1 | chr17 | 25904518 | + | 2530 | 271 | 10 | 2529 | 840 |
ENST00000337050 | MKS1 | chr17 | 56294027 | - | ENST00000319524 | KSR1 | chr17 | 25904518 | + | 2970 | 271 | 10 | 2670 | 886 |
ENST00000537529 | MKS1 | chr17 | 56294027 | - | ENST00000509603 | KSR1 | chr17 | 25904518 | + | 2584 | 325 | 91 | 2583 | 831 |
ENST00000537529 | MKS1 | chr17 | 56294027 | - | ENST00000319524 | KSR1 | chr17 | 25904518 | + | 3024 | 325 | 91 | 2724 | 877 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000393119 | ENST00000509603 | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + | 0.5409922 | 0.45900783 |
ENST00000393119 | ENST00000319524 | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + | 0.015936432 | 0.9840636 |
ENST00000337050 | ENST00000509603 | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + | 0.48486146 | 0.5151385 |
ENST00000337050 | ENST00000319524 | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + | 0.017363634 | 0.98263633 |
ENST00000537529 | ENST00000509603 | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + | 0.7211299 | 0.2788701 |
ENST00000537529 | ENST00000319524 | MKS1 | chr17 | 56294027 | - | KSR1 | chr17 | 25904518 | + | 0.022634717 | 0.9773653 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >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(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(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(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(amino acids)=877AA_BP=78 MMAVPVSSFAQRTRSRFRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQEIPRDLTLDALL EMNEAKVKETLRRCGASGDECGRLQYALTCLRKVTGLGGEHKEDSSWSSLDARRESGSGPSTDTLSAASLPWPPGSSQLGRAGNSAQGPR SISVSALPASDSPTPSFSEGLSDTCIPLHASGRLTPRALHSFITPPTTPQLRRHTKLKPPRTPPPPSRKVFQLLPSFPTLTRSKSHESQL GNRIDDVSSMRFDLSHGSPQMVRRDIGLSVTHRFSTKSWLSQVCHVCQKSMIFGVKCKHCRLKCHNKCTKEAPACRISFLPLTRLRRTES VPSDINNPVDRAAEPHFGTLPKALTKKEHPPAMNHLDSSSNPSSTTSSTPSSPAPFPTSSNPSSATTPPNPSPGQRDSRFNFPAAYFIHH RQQFIFPVPSAGHCWKCLLIAESLKENAFNISAFAHAAPLPEAADGTRLDDQPKADVLEAHEAEAEEPEAGKSEAEDDEDEVDDLPSSRR PWRGPISRKASQTSVYLQEWDIPFEQVELGEPIGQGRWGRVHRGRWHGEVAIRLLEMDGHNQDHLKLFKKEVMNYRQTRHENVVLFMGAC MNPPHLAIITSFCKGRTLHSFVRDPKTSLDINKTRQIAQEIIKGMGYLHAKGIVHKDLKSKNVFYDNGKVVITDFGLFGISGVVREGRRE NQLKLSHDWLCYLAPEIVREMTPGKDEDQLPFSKAADVYAFGTVWYELQARDWPLKNQAAEASIWQIGSGEGMKRVLTSVSLGKEVSEIL -------------------------------------------------------------- >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 Protein Functional Features |
![]() 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. |
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Hgene | Tgene |
MKS1 | KSR1 |
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: 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}. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | KSR1 | chr17:56294027 | chr17:25904518 | ENST00000268763 | 2 | 22 | 17_21 | 0 | 787.0 | Compositional bias | Note=Poly-Gly | |
Tgene | KSR1 | chr17:56294027 | chr17:25904518 | ENST00000268763 | 2 | 22 | 289_292 | 0 | 787.0 | Compositional bias | Note=Poly-Pro | |
Tgene | KSR1 | chr17:56294027 | chr17:25904518 | ENST00000268763 | 2 | 22 | 613_883 | 0 | 787.0 | Domain | Protein kinase | |
Tgene | KSR1 | chr17:56294027 | chr17:25904518 | ENST00000268763 | 2 | 22 | 619_627 | 0 | 787.0 | Nucleotide binding | ATP | |
Tgene | KSR1 | chr17:56294027 | chr17:25904518 | ENST00000268763 | 2 | 22 | 1_172 | 0 | 787.0 | Region | Mediates association with membranes | |
Tgene | KSR1 | chr17:56294027 | chr17:25904518 | ENST00000268763 | 2 | 22 | 347_391 | 0 | 787.0 | Zinc finger | Phorbol-ester/DAG-type |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | MKS1 | chr17:56294027 | chr17:25904518 | ENST00000393119 | - | 3 | 18 | 311_439 | 87.0 | 560.0 | Domain | C2 B9-type |
Hgene | MKS1 | chr17:56294027 | chr17:25904518 | ENST00000537529 | - | 3 | 18 | 311_439 | 77.0 | 550.0 | Domain | C2 B9-type |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
MKS1 | |
KSR1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to MKS1-KSR1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MKS1-KSR1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |