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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10425

FusionGeneSummary for DOCK9_USH2A

check button Fusion gene summary
Fusion gene informationFusion gene name: DOCK9_USH2A
Fusion gene ID: 10425
HgeneTgene
Gene symbol

DOCK9

USH2A

Gene ID

23348

7399

Gene namededicator of cytokinesis 9usherin
SynonymsZIZ1|ZIZIMIN1RP39|US2|USH2|dJ1111A8.1
Cytomap

13q32.3

1q41

Type of geneprotein-codingprotein-coding
Descriptiondedicator of cytokinesis protein 9cdc42 guanine nucleotide exchange factor zizimin-1zizimin-1usherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A protein
Modification date2018052220180520
UniProtAcc

Q9BZ29

O75445

Ensembl transtripts involved in fusion geneENST00000376460, ENST00000339416, 
ENST00000448493, ENST00000442173, 
ENST00000461998, 
ENST00000366943, 
ENST00000307340, ENST00000366942, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 3 X 3=27
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DOCK9 [Title/Abstract] AND USH2A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVCOADTCGA-QL-A97D-01ADOCK9chr13

99607689

-USH2Achr1

215812580

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shiftENST00000376460ENST00000366943DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000376460ENST00000307340DOCK9chr13

99607689

-USH2Achr1

215812580

-
5CDS-intronENST00000376460ENST00000366942DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000339416ENST00000366943DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000339416ENST00000307340DOCK9chr13

99607689

-USH2Achr1

215812580

-
5CDS-intronENST00000339416ENST00000366942DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000448493ENST00000366943DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000448493ENST00000307340DOCK9chr13

99607689

-USH2Achr1

215812580

-
5CDS-intronENST00000448493ENST00000366942DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000442173ENST00000366943DOCK9chr13

99607689

-USH2Achr1

215812580

-
Frame-shiftENST00000442173ENST00000307340DOCK9chr13

99607689

-USH2Achr1

215812580

-
5CDS-intronENST00000442173ENST00000366942DOCK9chr13

99607689

-USH2Achr1

215812580

-
intron-3CDSENST00000461998ENST00000366943DOCK9chr13

99607689

-USH2Achr1

215812580

-
intron-3CDSENST00000461998ENST00000307340DOCK9chr13

99607689

-USH2Achr1

215812580

-
intron-intronENST00000461998ENST00000366942DOCK9chr13

99607689

-USH2Achr1

215812580

-

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FusionProtFeatures for DOCK9_USH2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DOCK9

Q9BZ29

USH2A

O75445

Involved in hearing and vision.

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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FusionGeneSequence for DOCK9_USH2A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DOCK9_USH2A


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
DOCK9CDC42, CUL4B, LNX1, SMAD2, SMAD3, CDH1, DOCK10, C10orf88USH2ABRCA1, FOXRED2, TP53


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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RelatedDrugs for DOCK9_USH2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DOCK9_USH2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOCK9C0005586Bipolar Disorder1PSYGENET
TgeneUSH2AC1848634USHER SYNDROME, TYPE IIA24CTD_human;UNIPROT
TgeneUSH2AC3151138RETINITIS PIGMENTOSA 39 (disorder)12UNIPROT
TgeneUSH2AC0035334Retinitis Pigmentosa3CTD_human;HPO;ORPHANET