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:PPP1R21-DNAH6 (FusionGDB2 ID:67877)

Fusion Gene Summary for PPP1R21-DNAH6

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R21-DNAH6
Fusion gene ID: 67877
HgeneTgene
Gene symbol

PPP1R21

DNAH6

Gene ID

129285

1768

Gene nameprotein phosphatase 1 regulatory subunit 21dynein axonemal heavy chain 6
SynonymsCCDC128|KLRAQ1DNHL1|Dnahc6|HL-2|HL2
Cytomap

2p16.3

2p11.2

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1 regulatory subunit 21KLRAQ motif containing 1KLRAQ motif-containing protein 1coiled-coil domain containing 128coiled-coil domain-containing protein 128dynein heavy chain 6, axonemalaxonemal beta dynein heavy chain 6ciliary dynein heavy chain 6dynein heavy chain-like 1dynein, axonemal, heavy polypeptide 6
Modification date2020031320200313
UniProtAcc

Q6ZMI0

Q9C0G6

Ensembl transtripts involved in fusion geneENST00000281394, ENST00000294952, 
ENST00000449090, ENST00000476199, 
ENST00000398278, ENST00000468661, 
ENST00000602588, ENST00000237449, 
ENST00000389394, 
Fusion gene scores* DoF score12 X 11 X 5=6606 X 7 X 5=210
# samples 137
** MAII scorelog2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPP1R21 [Title/Abstract] AND DNAH6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPP1R21(48692781)-DNAH6(85046429), # samples:1
PPP1R21(48692781)-DNAH6(85046428), # samples:1
Anticipated loss of major functional domain due to fusion event.PPP1R21-DNAH6 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 PPP1R21 (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 DNAH6 (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
ChimerDB4PRADTCGA-EJ-7321-01APPP1R21chr2

48692781

+DNAH6chr2

85046429

+
ChimerDB4PRADTCGA-EJ-7321PPP1R21chr2

48692781

+DNAH6chr2

85046428

+


Top

Fusion Gene ORF analysis for PPP1R21-DNAH6

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-intronENST00000281394ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000281394ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000281394ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000281394ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000281394ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000281394ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000294952ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000294952ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000294952ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000294952ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000294952ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000294952ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000449090ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000449090ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000449090ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000449090ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
5CDS-intronENST00000449090ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
5CDS-intronENST00000449090ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
Frame-shiftENST00000281394ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
Frame-shiftENST00000281394ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
Frame-shiftENST00000281394ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
Frame-shiftENST00000281394ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
Frame-shiftENST00000294952ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
Frame-shiftENST00000294952ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
Frame-shiftENST00000294952ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
Frame-shiftENST00000294952ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
Frame-shiftENST00000449090ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
Frame-shiftENST00000449090ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
Frame-shiftENST00000449090ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
Frame-shiftENST00000449090ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
intron-3CDSENST00000476199ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
intron-3CDSENST00000476199ENST00000237449PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
intron-3CDSENST00000476199ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
intron-3CDSENST00000476199ENST00000389394PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
intron-intronENST00000476199ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
intron-intronENST00000476199ENST00000398278PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
intron-intronENST00000476199ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
intron-intronENST00000476199ENST00000468661PPP1R21chr2

48692781

+DNAH6chr2

85046428

+
intron-intronENST00000476199ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046429

+
intron-intronENST00000476199ENST00000602588PPP1R21chr2

48692781

+DNAH6chr2

85046428

+

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 PPP1R21-DNAH6


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)
PPP1R21chr248692781+DNAH6chr285046428+0.0001928290.9998072
PPP1R21chr248692781+DNAH6chr285046428+0.0001928290.9998072
PPP1R21chr248692781+DNAH6chr285046428+0.0001928290.9998072
PPP1R21chr248692781+DNAH6chr285046428+0.0001928290.9998072

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.
genomic feature of top 1%

Top

Fusion Protein Features for PPP1R21-DNAH6


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/:48692781/:85046429)
- 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
PPP1R21

Q6ZMI0

DNAH6

Q9C0G6

FUNCTION: Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (PubMed:30520571). {ECO:0000269|PubMed:30520571, ECO:0000305|PubMed:19389623}.FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (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 PPP1R21-DNAH6


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 PPP1R21-DNAH6


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 PPP1R21-DNAH6


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 PPP1R21-DNAH6


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