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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:C1GALT1-MIOS (FusionGDB2 ID:HG56913TG54468)

Fusion Gene Summary for C1GALT1-MIOS

check button Fusion gene summary
Fusion gene informationFusion gene name: C1GALT1-MIOS
Fusion gene ID: hg56913tg54468
HgeneTgene
Gene symbol

C1GALT1

MIOS

Gene ID

56913

54468

Gene namecore 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1meiosis regulator for oocyte development
SynonymsC1GALT|T-synthaseMIO|Sea4|Yulink
Cytomap('C1GALT1')('MIOS')

7p22.1-p21.3

7p21.3

Type of geneprotein-codingprotein-coding
Descriptionglycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1B3Gal-T8core 1 O-glycan T-synthasecore 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1core 1 beta3-Gal-T1epididymis secretory sperm binding proteinGATOR complex protein MIOSH_DJ1159O04.1WD repeat-containing protein mioWUGSC:H_DJ1159O04.1missing oocyte, meiosis regulator, homolog
Modification date2020031320200313
UniProtAcc

Q9NS00

Q9NXC5

Ensembl transtripts involved in fusion geneENST00000467716, ENST00000436587, 
ENST00000223122, ENST00000402468, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 5 X 3=60
# samples 45
** MAII scorelog2(4/36*10)=0.15200309344505
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: C1GALT1 [Title/Abstract] AND MIOS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1GALT1(7222451)-MIOS(7612067), # 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


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
ChimerDB4STADTCGA-BR-8678-01AC1GALT1chr7

7222451

+MIOSchr7

7612067

+


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Fusion Gene ORF analysis for C1GALT1-MIOS

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
3UTR-5UTRENST00000467716ENST00000340080C1GALT1chr7

7222451

+MIOSchr7

7612067

+
3UTR-5UTRENST00000467716ENST00000405785C1GALT1chr7

7222451

+MIOSchr7

7612067

+
3UTR-intronENST00000467716ENST00000461907C1GALT1chr7

7222451

+MIOSchr7

7612067

+
5UTR-5UTRENST00000436587ENST00000340080C1GALT1chr7

7222451

+MIOSchr7

7612067

+
5UTR-5UTRENST00000436587ENST00000405785C1GALT1chr7

7222451

+MIOSchr7

7612067

+
5UTR-intronENST00000436587ENST00000461907C1GALT1chr7

7222451

+MIOSchr7

7612067

+
intron-5UTRENST00000223122ENST00000340080C1GALT1chr7

7222451

+MIOSchr7

7612067

+
intron-5UTRENST00000223122ENST00000405785C1GALT1chr7

7222451

+MIOSchr7

7612067

+
intron-5UTRENST00000402468ENST00000340080C1GALT1chr7

7222451

+MIOSchr7

7612067

+
intron-5UTRENST00000402468ENST00000405785C1GALT1chr7

7222451

+MIOSchr7

7612067

+
intron-intronENST00000223122ENST00000461907C1GALT1chr7

7222451

+MIOSchr7

7612067

+
intron-intronENST00000402468ENST00000461907C1GALT1chr7

7222451

+MIOSchr7

7612067

+

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)

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

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Fusion Genomic Features for C1GALT1-MIOS


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)
C1GALT1chr77222451+MIOSchr77612066+0.0942107440.9057892
C1GALT1chr77222451+MIOSchr77612066+0.0942107440.9057892


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 C1GALT1-MIOS


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/:7222451/:7612067)
- 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
C1GALT1

Q9NS00

MIOS

Q9NXC5

FUNCTION: Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development.FUNCTION: As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210). {ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:27487210}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for C1GALT1-MIOS


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.

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Fusion Gene PPI Analysis for C1GALT1-MIOS


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 C1GALT1-MIOS


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 C1GALT1-MIOS


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