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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:WDR20-DYNC1H1 (FusionGDB2 ID:98232)

Fusion Gene Summary for WDR20-DYNC1H1

check button Fusion gene summary
Fusion gene informationFusion gene name: WDR20-DYNC1H1
Fusion gene ID: 98232
HgeneTgene
Gene symbol

WDR20

DYNC1H1

Gene ID

91833

1778

Gene nameWD repeat domain 20dynein cytoplasmic 1 heavy chain 1
SynonymsDMRCMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22
Cytomap

14q32.31

14q32.31

Type of geneprotein-codingprotein-coding
DescriptionWD repeat-containing protein 20cytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1
Modification date2020031320200328
UniProtAcc.

Q14204

Ensembl transtripts involved in fusion geneENST00000335263, ENST00000424963, 
ENST00000322340, ENST00000499851, 
ENST00000342702, ENST00000556807, 
ENST00000558567, ENST00000299135, 
ENST00000454394, ENST00000556511, 
ENST00000557186, ENST00000545563, 
ENST00000360184, ENST00000556791, 
Fusion gene scores* DoF score12 X 7 X 8=6728 X 9 X 3=216
# samples 169
** MAII scorelog2(16/672*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WDR20 [Title/Abstract] AND DYNC1H1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointWDR20(102606509)-DYNC1H1(102514154), # samples:2
Anticipated loss of major functional domain due to fusion event.WDR20-DYNC1H1 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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)

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

check buttonFusion gene breakpoints across WDR20 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DYNC1H1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-BR-7716-01AWDR20chr14

102606509

+DYNC1H1chr14

102514154

+
ChimerDB4STADTCGA-BR-7716-01AWDR20chr14

102606324

+DYNC1H1chr14

102514154

+
ChimerDB4STADTCGA-BR-7716-01AWDR20chr14

102606509

-DYNC1H1chr14

102514154

+


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Fusion Gene ORF analysis for WDR20-DYNC1H1

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
Frame-shiftENST00000335263ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000335263ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000424963ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000424963ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000322340ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000322340ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5UTR-3CDSENST00000499851ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5UTR-intronENST00000499851ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000342702ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000342702ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000556807ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000556807ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000558567ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000558567ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000299135ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000299135ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000454394ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000454394ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000556511ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000556511ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
3UTR-3CDSENST00000557186ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
3UTR-intronENST00000557186ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
intron-3CDSENST00000545563ENST00000360184WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
intron-intronENST00000545563ENST00000556791WDR20chr14

102606509

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000335263ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000335263ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5UTR-3CDSENST00000424963ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5UTR-intronENST00000424963ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000322340ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000322340ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5UTR-3CDSENST00000499851ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5UTR-intronENST00000499851ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000342702ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000342702ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000556807ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000556807ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000558567ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000558567ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000299135ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000299135ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000454394ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000454394ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
Frame-shiftENST00000556511ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
5CDS-intronENST00000556511ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
3UTR-3CDSENST00000557186ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
3UTR-intronENST00000557186ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
intron-3CDSENST00000545563ENST00000360184WDR20chr14

102606324

+DYNC1H1chr14

102514154

+
intron-intronENST00000545563ENST00000556791WDR20chr14

102606324

+DYNC1H1chr14

102514154

+

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 WDR20-DYNC1H1


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)
WDR20chr14102606509+DYNC1H1chr14102514153+6.86E-121
WDR20chr14102606509+DYNC1H1chr14102514153+6.86E-121

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.

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 WDR20-DYNC1H1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DYNC1H1

Q14204

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074). {ECO:0000269|PubMed:27462074}.

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 WDR20-DYNC1H1


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 WDR20-DYNC1H1


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 WDR20-DYNC1H1


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 WDR20-DYNC1H1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneWDR20C0238463Papillary thyroid carcinoma1CTD_human
HgeneWDR20C3501843Nonmedullary Thyroid Carcinoma1CTD_human
HgeneWDR20C3501844Familial Nonmedullary Thyroid Cancer1CTD_human
TgeneDYNC1H1C1834690Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant8GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneDYNC1H1C3281202MENTAL RETARDATION, AUTOSOMAL DOMINANT 137CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneDYNC1H1C3280220CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneDYNC1H1C0003886Arthrogryposis1GENOMICS_ENGLAND
TgeneDYNC1H1C0020796Profound Mental Retardation1CTD_human
TgeneDYNC1H1C0025363Mental Retardation, Psychosocial1CTD_human
TgeneDYNC1H1C0025958Microcephaly1CTD_human
TgeneDYNC1H1C0238463Papillary thyroid carcinoma1CTD_human
TgeneDYNC1H1C0431380Cortical Dysplasia1CTD_human
TgeneDYNC1H1C0751495Seizures, Focal1GENOMICS_ENGLAND
TgeneDYNC1H1C0917816Mental deficiency1CTD_human
TgeneDYNC1H1C1837249Malformations of Cortical Development, Group II1GENOMICS_ENGLAND
TgeneDYNC1H1C1955869Malformations of Cortical Development1CTD_human
TgeneDYNC1H1C1956147Microlissencephaly1CTD_human
TgeneDYNC1H1C3501843Nonmedullary Thyroid Carcinoma1CTD_human
TgeneDYNC1H1C3501844Familial Nonmedullary Thyroid Cancer1CTD_human
TgeneDYNC1H1C3714756Intellectual Disability1CTD_human
TgeneDYNC1H1C3853041Severe Congenital Microcephaly1CTD_human