Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:DYM-HNRNPUL1 (FusionGDB2 ID:HG54808TG11100)

Fusion Gene Summary for DYM-HNRNPUL1

check button Fusion gene summary
Fusion gene informationFusion gene name: DYM-HNRNPUL1
Fusion gene ID: hg54808tg11100
HgeneTgene
Gene symbol

DYM

HNRNPUL1

Gene ID

54808

11100

Gene namedymeclinheterogeneous nuclear ribonucleoprotein U like 1
SynonymsDMC|SMCE1B-AP5|E1BAP5|HNRPUL1
Cytomap('DYM')('HNRNPUL1')

18q21.1

19q13.2

Type of geneprotein-codingprotein-coding
Descriptiondymeclindyggve-Melchior-Clausen syndrome proteinheterogeneous nuclear ribonucleoprotein U-like protein 1E1B 55kDa associated protein 5E1B-55 kDa-associated protein 5adenovirus early region 1B-associated protein 5
Modification date2020031320200327
UniProtAcc

Q7RTS9

.
Ensembl transtripts involved in fusion geneENST00000269445, ENST00000442713, 
ENST00000584977, ENST00000578396, 
Fusion gene scores* DoF score24 X 18 X 10=432030 X 17 X 8=4080
# samples 2632
** MAII scorelog2(26/4320*10)=-4.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(32/4080*10)=-3.6724253419715
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DYM [Title/Abstract] AND HNRNPUL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDYM(46986767)-HNRNPUL1(41798149), # samples:1
DYM(46986768)-HNRNPUL1(41798150), # 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-8080-01ADYMchr18

46986768

-HNRNPUL1chr19

41798150

+
ChimerDB4STADTCGA-BR-8080DYMchr18

46986767

-HNRNPUL1chr19

41798149

+


Top

Fusion Gene ORF analysis for DYM-HNRNPUL1

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-3CDSENST00000269445ENST00000263367DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000263367DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000269445ENST00000352456DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000352456DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000269445ENST00000378215DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000378215DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000269445ENST00000392006DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000392006DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000269445ENST00000593587DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000593587DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000269445ENST00000595018DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000595018DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000269445ENST00000602130DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000269445ENST00000602130DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000263367DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000263367DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000352456DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000352456DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000378215DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000378215DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000392006DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000392006DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000593587DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000593587DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000595018DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000595018DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000442713ENST00000602130DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000442713ENST00000602130DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000263367DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000263367DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000352456DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000352456DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000378215DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000378215DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000392006DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000392006DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000593587DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000593587DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000595018DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000595018DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-3CDSENST00000584977ENST00000602130DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-3CDSENST00000584977ENST00000602130DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-intronENST00000269445ENST00000594207DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-intronENST00000269445ENST00000594207DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-intronENST00000442713ENST00000594207DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-intronENST00000442713ENST00000594207DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
5UTR-intronENST00000584977ENST00000594207DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
5UTR-intronENST00000584977ENST00000594207DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000263367DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000263367DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000352456DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000352456DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000378215DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000378215DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000392006DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000392006DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000593587DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000593587DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000595018DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000595018DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-3CDSENST00000578396ENST00000602130DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-3CDSENST00000578396ENST00000602130DYMchr18

46986767

-HNRNPUL1chr19

41798149

+
intron-intronENST00000578396ENST00000594207DYMchr18

46986768

-HNRNPUL1chr19

41798150

+
intron-intronENST00000578396ENST00000594207DYMchr18

46986767

-HNRNPUL1chr19

41798149

+

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

Top

Fusion Genomic Features for DYM-HNRNPUL1


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)
DYMchr1846986767-HNRNPUL1chr1941798149+2.34E-070.99999976
DYMchr1846986767-HNRNPUL1chr1941798149+2.34E-070.99999976
DYMchr1846986767-HNRNPUL1chr1941798149+2.34E-070.99999976
DYMchr1846986767-HNRNPUL1chr1941798149+2.34E-070.99999976


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%

Top

Fusion Protein Features for DYM-HNRNPUL1


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/:46986767/:41798149)
- 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
DYM

Q7RTS9

.
FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}.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}.

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


Top

Fusion Gene Sequence for DYM-HNRNPUL1


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.

Top

Fusion Gene PPI Analysis for DYM-HNRNPUL1


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


Top

Related Drugs for DYM-HNRNPUL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for DYM-HNRNPUL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYMC0265286Dyggve-Melchior-Clausen syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDYMC3888088SMITH-MCCORT DYSPLASIA 14GENOMICS_ENGLAND;UNIPROT
HgeneDYMC1846431SMITH-MCCORT DYSPLASIA2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDYMC0036341Schizophrenia1PSYGENET