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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:FAM20C-MKRN1 (FusionGDB2 ID:28892)

Fusion Gene Summary for FAM20C-MKRN1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM20C-MKRN1
Fusion gene ID: 28892
HgeneTgene
Gene symbol

FAM20C

MKRN1

Gene ID

56975

23608

Gene nameFAM20C golgi associated secretory pathway kinasemakorin ring finger protein 1
SynonymsDMP-4|DMP4|G-CK|GEF-CK|RNSRNF61
Cytomap

7p22.3

7q34

Type of geneprotein-codingprotein-coding
Descriptionextracellular serine/threonine protein kinase FAM20CGolgi casein kinasedentin matrix protein 4family with sequence similarity 20, member Cgolgi-enriched fraction casein kinaseE3 ubiquitin-protein ligase makorin-1RING finger protein 61RING-type E3 ubiquitin transferase makorin-1
Modification date2020031320200313
UniProtAcc

Q8IXL6

Q9UHC7

Ensembl transtripts involved in fusion geneENST00000313766, ENST00000471328, 
ENST00000437223, ENST00000443720, 
ENST00000474576, ENST00000480552, 
ENST00000481705, ENST00000255977, 
Fusion gene scores* DoF score4 X 1 X 4=165 X 4 X 3=60
# samples 45
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM20C [Title/Abstract] AND MKRN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM20C(208976)-MKRN1(140171811), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFAM20C

GO:0006468

protein phosphorylation

23754375|25789606|26091039

TgeneMKRN1

GO:0000209

protein polyubiquitination

19536131


check buttonFusion gene breakpoints across FAM20C (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 MKRN1 (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
ChimerDB4LUSCTCGA-56-7223-01AFAM20Cchr7

208976

+MKRN1chr7

140171811

-


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Fusion Gene ORF analysis for FAM20C-MKRN1

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-5UTRENST00000313766ENST00000437223FAM20Cchr7

208976

+MKRN1chr7

140171811

-
5CDS-5UTRENST00000313766ENST00000443720FAM20Cchr7

208976

+MKRN1chr7

140171811

-
5CDS-5UTRENST00000313766ENST00000474576FAM20Cchr7

208976

+MKRN1chr7

140171811

-
5CDS-5UTRENST00000313766ENST00000480552FAM20Cchr7

208976

+MKRN1chr7

140171811

-
5CDS-5UTRENST00000313766ENST00000481705FAM20Cchr7

208976

+MKRN1chr7

140171811

-
In-frameENST00000313766ENST00000255977FAM20Cchr7

208976

+MKRN1chr7

140171811

-
intron-3CDSENST00000471328ENST00000255977FAM20Cchr7

208976

+MKRN1chr7

140171811

-
intron-5UTRENST00000471328ENST00000437223FAM20Cchr7

208976

+MKRN1chr7

140171811

-
intron-5UTRENST00000471328ENST00000443720FAM20Cchr7

208976

+MKRN1chr7

140171811

-
intron-5UTRENST00000471328ENST00000474576FAM20Cchr7

208976

+MKRN1chr7

140171811

-
intron-5UTRENST00000471328ENST00000480552FAM20Cchr7

208976

+MKRN1chr7

140171811

-
intron-5UTRENST00000471328ENST00000481705FAM20Cchr7

208976

+MKRN1chr7

140171811

-

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)
ENST00000313766FAM20Cchr7208976+ENST00000255977MKRN1chr7140171811-383510941712357728

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
ENST00000313766ENST00000255977FAM20Cchr7208976+MKRN1chr7140171811-0.0015028930.9984971

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Fusion Genomic Features for FAM20C-MKRN1


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.

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Fusion Protein Features for FAM20C-MKRN1


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/chr7:208976/chr7:140171811)
- 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
FAM20C

Q8IXL6

MKRN1

Q9UHC7

FUNCTION: Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039). {ECO:0000269|PubMed:22582013, ECO:0000269|PubMed:23754375, ECO:0000269|PubMed:25789606, ECO:0000269|PubMed:26091039}.FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription. {ECO:0000269|PubMed:16785614, ECO:0000269|PubMed:19536131}.

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
TgeneMKRN1chr7:208976chr7:140171811ENST0000025597708236_26361483.0RegionNote=Makorin-type Cys-His
TgeneMKRN1chr7:208976chr7:140171811ENST0000044372005236_26361330.0RegionNote=Makorin-type Cys-His
TgeneMKRN1chr7:208976chr7:140171811ENST0000047457608236_2630419.0RegionNote=Makorin-type Cys-His
TgeneMKRN1chr7:208976chr7:140171811ENST0000025597708208_23561483.0Zinc fingerC3H1-type 3
TgeneMKRN1chr7:208976chr7:140171811ENST0000025597708281_33561483.0Zinc fingerRING-type
TgeneMKRN1chr7:208976chr7:140171811ENST0000025597708364_39361483.0Zinc fingerC3H1-type 4
TgeneMKRN1chr7:208976chr7:140171811ENST000002559770884_11161483.0Zinc fingerC3H1-type 2
TgeneMKRN1chr7:208976chr7:140171811ENST0000044372005208_23561330.0Zinc fingerC3H1-type 3
TgeneMKRN1chr7:208976chr7:140171811ENST0000044372005281_33561330.0Zinc fingerRING-type
TgeneMKRN1chr7:208976chr7:140171811ENST0000044372005364_39361330.0Zinc fingerC3H1-type 4
TgeneMKRN1chr7:208976chr7:140171811ENST000004437200584_11161330.0Zinc fingerC3H1-type 2
TgeneMKRN1chr7:208976chr7:140171811ENST0000047457608208_2350419.0Zinc fingerC3H1-type 3
TgeneMKRN1chr7:208976chr7:140171811ENST0000047457608281_3350419.0Zinc fingerRING-type
TgeneMKRN1chr7:208976chr7:140171811ENST0000047457608364_3930419.0Zinc fingerC3H1-type 4
TgeneMKRN1chr7:208976chr7:140171811ENST000004745760855_820419.0Zinc fingerC3H1-type 1
TgeneMKRN1chr7:208976chr7:140171811ENST000004745760884_1110419.0Zinc fingerC3H1-type 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFAM20Cchr7:208976chr7:140171811ENST00000313766+310389_392287585.0Nucleotide bindingATP
HgeneFAM20Cchr7:208976chr7:140171811ENST00000313766+310354_565287585.0RegionKinase domain
TgeneMKRN1chr7:208976chr7:140171811ENST000002559770855_8261483.0Zinc fingerC3H1-type 1
TgeneMKRN1chr7:208976chr7:140171811ENST000004437200555_8261330.0Zinc fingerC3H1-type 1


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Fusion Gene Sequence for FAM20C-MKRN1


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.
>28892_28892_1_FAM20C-MKRN1_FAM20C_chr7_208976_ENST00000313766_MKRN1_chr7_140171811_ENST00000255977_length(transcript)=3835nt_BP=1094nt
GCGGCCGCTCCGGAGAGGCCGAGCGGGGACGGGCCCGAGATGGCGCGGGGACCCAGCGCTCCGGCGGCGGGCGCCCTGCACGCGGCCCGG
GCCCGGGGACAGCCCCGGAGCTGGTAGCCGCCCGGCACCGATGGACCTTGACCCGCGAGGCGGCGCCGCGCTCGTGCCCAGCTGCAGCTA
GAGGGGCGCGCGGGCAGAACGCGCTCCAGGCCCGGGCCGGCCCGCGCGGCCATGAAGATGATGCTGGTGCGCCGGTTCCGCGTGCTCATC
CTGATGGTGTTCCTGGTGGCCTGCGCGCTGCACATCGCCCTGGACCTGCTGCCCAGGCTGGAGCGACGCGGCGCGCGGCCCTCGGGGGAG
CCCGGCTGTTCGTGCGCGCAGCCCGCCGCCGAGGTGGCCGCGCCCGGCTGGGCCCAGGTTCGGGGCCGCCCCGGGGAGCCCCCGGCCGCC
TCCTCCGCCGCCGGCGACGCGGGCTGGCCCAACAAGCACACGCTCCGCATCCTGCAGGACTTCAGCTCCGACCCCTCCTCCAACCTCTCG
TCCCACTCGCTGGAGAAACTGCCGCCCGCGGCCGAGCCGGCCGAGCGCGCCTTGCGGGGGCGGGATCCCGGCGCCCTAAGACCCCACGAC
CCCGCGCACCGGCCGCTGCTGCGAGACCCCGGCCCGCGTCGGTCCGAGTCGCCCCCCGGCCCCGGCGGAGACGCCTCCCTCCTGGCCAGG
CTGTTCGAGCACCCGCTTTACCGGGTGGCGGTTCCGCCGCTCACGGAGGAGGACGTCCTGTTCAATGTGAACAGCGACACCAGGCTCAGC
CCCAAAGCGGCGGAGAACCCGGACTGGCCGCATGCGGGTGCTGAAGGTGCAGAATTCCTCTCCCCCGGGGAGGCGGCCGTGGACTCCTAT
CCCAACTGGCTCAAGTTCCACATTGGTATCAACCGGTACGAGCTGTACTCCAGACACAACCCGGCCATCGAGGCCCTGCTGCACGACCTC
AGCTCCCAGAGGATCACCAGCGTGGCCATGAAGTCGGGGGGCACGCAGCTGAAGCTCATCATGACCTTCCAGAATTACGGGCAAGCGCTG
TTCAAACCCATGAAGTATTTTATGCATGGGGTTTGTAAGGAAGGAGACAACTGTCGCTACTCGCATGACCTCTCTGACAGTCCGTATAGT
GTAGTGTGCAAGTATTTTCAGCGAGGGTACTGTATTTATGGAGACCGCTGCAGATATGAACATAGCAAACCATTGAAACAGGAAGAAGCA
ACTGCTACAGAGCTAACTACAAAGTCATCCCTTGCTGCTTCCTCAAGTCTCTCATCGATAGTTGGACCACTTGTTGAAATGAATACAGGC
GAAGCTGAGTCAAGAAATTCAAACTTTGCAACTGTAGGAGCAGGTTCAGAGGACTGGGTGAATGCTATTGAGTTTGTTCCTGGGCAACCC
TACTGTGGCCGTACTGCGCCTTCCTGCACTGAAGCACCCCTGCAGGGCTCAGTGACCAAGGAAGAATCAGAGAAAGAGCAAACCGCCGTG
GAGACAAAGAAGCAGCTGTGCCCCTATGCTGCAGTGGGAGAGTGCCGATACGGGGAGAACTGTGTGTATCTCCACGGAGATTCTTGTGAC
ATGTGTGGGCTGCAGGTCCTGCATCCAATGGATGCTGCCCAGAGATCGCAGCATATCAAATCGTGCATTGAGGCCCATGAGAAGGACATG
GAGCTCTCATTTGCCGTGCAGCGCAGCAAGGACATGGTGTGTGGGATCTGCATGGAGGTGGTCTATGAGAAAGCCAACCCCAGTGAGCGC
CGCTTCGGGATCCTCTCCAACTGCAACCACACCTACTGTCTCAAGTGCATTCGCAAGTGGAGGAGTGCTAAGCAATTTGAGAGCAAGATC
ATAAAGTCCTGCCCAGAATGCCGGATCACATCTAACTTTGTCATTCCAAGTGAGTACTGGGTGGAGGAGAAAGAAGAGAAGCAGAAACTC
ATTCTGAAATACAAGGAGGCAATGAGCAACAAGGCGTGCAGGTATTTTGATGAAGGACGTGGGAGCTGCCCATTTGGAGGGAACTGTTTT
TACAAGCATGCGTACCCTGATGGCCGTAGAGAGGAGCCACAGAGACAGAAAGTGGGAACATCAAGCAGATACCGGGCCCAACGAAGGAAC
CACTTCTGGGAACTCATTGAGGAAAGAGAGAACAGCAACCCCTTTGACAACGATGAAGAAGAGGTTGTCACCTTTGAGCTGGGCGAGATG
TTGCTTATGCTTTTGGCTGCAGGTGGGGACGACGAACTAACAGACTCTGAAGATGAGTGGGACTTGTTTCATGATGAGCTGGAAGATTTT
TATGACTTGGATCTATAGCAACCTTGCGTGGCGTGTGAACTGGTCTGCTGACCTCAGACAGCAGCTGTCCCCTGTGGTGGTGTGGCAGTG
CCTGTGTTCTCTCCTAGGCAGGCCTCTCAACTCCAGGTGCTGTCCTAAGAATTTTTACCCAGGGCCTGTCTTCTCAACCCCTCACCTTTC
CCTGAGGAGTGTGTTGTTTTCCCTGTTGAAAAAAGTTACAAAAATAAATCTTAAAGTTAGTTTTTTGTAACACGAATTTAACTGTCAGAC
AGTTAGTGTAGGTGTGTTGCGTCATCTGTTTTCAACCAGATTGCATTTATGGACTTTTCACACACTCATTTTGAGGACCCCAGGTTCAAA
AGTAAAAGCAGTGGCCCTGCTTTGGGGTCCAAGAATAGGAGTGATGGGTGAAGGGACCTAAGCTGGCCAATAGCCCTCTGCCCCAGACAT
GGGATGTGGATCCTTGAGGTTTCTGGTGAAATCTGCACATCTGTGTTTTTATATCTGTTCCCTACCCTGTAATCCCTACCACGTGCACTT
GTTCTGTGGTTTTGGTCTCTTGTTTAATTGCACACAAGTAATACTACTGGGTAACCAGAATCAGGTGTGAATGTGTTGAGATTTTTTACT
GTTTTGCATGATAGGAAAATTGAGAAAGAATACGTATAAAAGATAGAGAGGCATAACATCAATGCAGAGTTGGAAGTTGGCTCCCAAGGG
CTGACATGGTGTGAGTGTGTGGGTGTGTGATAAGCTTCTCATCCCTGCATAGATGCAGTATTCTTAGCCTTAGTAGAAAAACCTGGTTTA
GTGGTTTAAGCCTTGTGTGGCAGATAGATCTTAAAGGGCAAAGCAGTATATTGGTAGTTGTCAATATAGCAGTGCTAGCTCTGTCTATAT
AAATAGAGAAATGGGGTTAGCCATAGAGGTTAAAACTACCTGGTTATCCCATATAATAACACAAACTGGGTCTTGGATACACAGTTGTAT
TTAATGTTTTACGATCTAGCCTTTCCAGTACAGGCACTTTCTGAGAAACCTTTGTCCTCACTTGAGGCATTTTGTTGTCGGGTTTTTGTG
TTTGTTTTTGTGGGTATTTGCCTCATTCCACCCCTGAGCTTTCAGGTAGACAGACGTGATTCAAAACTCTGTTCTAAGGTGTTTATTGTA
GTGGAGTAATGGGTTTGCAGTGATAAGTCATACTTTTCCACCGAAAGGGAGGGCTTGGGAATCCCTGAGATTAGCTAAAGTTAAGTTGTT
GGAAGAATTCCTTGATTGGAAATTGTACCTTTGTGTTTTGTTGCTCTGTTTCCTGAAAATAACTCGGGGATGCTCCTGGTTTGTCCATCT
ACTGCTTTGATTCCTTGGATCCCACCCATTCTTTCACTTTAAGAAAAAACAAATAATTGTTGCAGAGGTCTCTGTATTTTGCAGCTGCCC

>28892_28892_1_FAM20C-MKRN1_FAM20C_chr7_208976_ENST00000313766_MKRN1_chr7_140171811_ENST00000255977_length(amino acids)=728AA_BP=308
MQLEGRAGRTRSRPGPARAAMKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEP
PAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYSRHNPAIEALL
HDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKYFMHGVCKEGDNCRYSHDLSDSPYSVVCKYFQRGYCIYGDRCRYEHSKPLKQ
EEATATELTTKSSLAASSSLSSIVGPLVEMNTGEAESRNSNFATVGAGSEDWVNAIEFVPGQPYCGRTAPSCTEAPLQGSVTKEESEKEQ
TAVETKKQLCPYAAVGECRYGENCVYLHGDSCDMCGLQVLHPMDAAQRSQHIKSCIEAHEKDMELSFAVQRSKDMVCGICMEVVYEKANP
SERRFGILSNCNHTYCLKCIRKWRSAKQFESKIIKSCPECRITSNFVIPSEYWVEEKEEKQKLILKYKEAMSNKACRYFDEGRGSCPFGG
NCFYKHAYPDGRREEPQRQKVGTSSRYRAQRRNHFWELIEERENSNPFDNDEEEVVTFELGEMLLMLLAAGGDDELTDSEDEWDLFHDEL

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Fusion Gene PPI Analysis for FAM20C-MKRN1


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 FAM20C-MKRN1


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 FAM20C-MKRN1


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