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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:C18orf32-DYM (FusionGDB2 ID:HG497661TG54808)

Fusion Gene Summary for C18orf32-DYM

check button Fusion gene summary
Fusion gene informationFusion gene name: C18orf32-DYM
Fusion gene ID: hg497661tg54808
HgeneTgene
Gene symbol

C18orf32

DYM

Gene ID

497661

54808

Gene namechromosome 18 open reading frame 32dymeclin
Synonyms-DMC|SMC
Cytomap('C18orf32')('DYM')

18q21.1

18q21.1

Type of geneprotein-codingprotein-coding
DescriptionUPF0729 protein C18orf32putative NF-kappa-B-activating protein 200putative NFkB activating proteindymeclindyggve-Melchior-Clausen syndrome protein
Modification date2020032720200313
UniProtAcc

Q8TCD1

Q7RTS9

Ensembl transtripts involved in fusion geneENST00000579820, ENST00000318240, 
ENST00000582392, 
ENST00000318240, 
ENST00000579820, ENST00000582392, 
Fusion gene scores* DoF score1 X 1 X 1=119 X 11 X 13=2717
# samples 124
** MAII scorelog2(1/1*10)=3.32192809488736log2(24/2717*10)=-3.50090825461346
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C18orf32 [Title/Abstract] AND DYM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC18orf32(47013576)-DYM(46956817), # 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
ChimerDB4BRCATCGA-BH-A1F8C18orf32chr18

47013576

-DYMchr18

46956817

-


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Fusion Gene ORF analysis for C18orf32-DYM

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
5UTR-5UTRENST00000579820ENST00000269445C18orf32chr18

47013576

-DYMchr18

46956817

-
5UTR-5UTRENST00000579820ENST00000442713C18orf32chr18

47013576

-DYMchr18

46956817

-
5UTR-5UTRENST00000579820ENST00000584977C18orf32chr18

47013576

-DYMchr18

46956817

-
5UTR-intronENST00000579820ENST00000578396C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-5UTRENST00000318240ENST00000269445C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-5UTRENST00000318240ENST00000442713C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-5UTRENST00000318240ENST00000584977C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-5UTRENST00000582392ENST00000269445C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-5UTRENST00000582392ENST00000442713C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-5UTRENST00000582392ENST00000584977C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-intronENST00000318240ENST00000578396C18orf32chr18

47013576

-DYMchr18

46956817

-
intron-intronENST00000582392ENST00000578396C18orf32chr18

47013576

-DYMchr18

46956817

-

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 C18orf32-DYM


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)


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Fusion Protein Features for C18orf32-DYM


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/:47013576/:46956817)
- 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
C18orf32

Q8TCD1

DYM

Q7RTS9

FUNCTION: May activate the NF-kappa-B signaling pathway. {ECO:0000269|PubMed:12761501}.FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}.

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 C18orf32-DYM


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 C18orf32-DYM


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 C18orf32-DYM


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 C18orf32-DYM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0265286Dyggve-Melchior-Clausen syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3888088SMITH-MCCORT DYSPLASIA 14GENOMICS_ENGLAND;UNIPROT
TgeneC1846431SMITH-MCCORT DYSPLASIA2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0036341Schizophrenia1PSYGENET