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Fusion gene ID: 10425 |
FusionGeneSummary for DOCK9_USH2A |
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Fusion gene information | Fusion gene name: DOCK9_USH2A | Fusion gene ID: 10425 | Hgene | Tgene | Gene symbol | DOCK9 | USH2A | Gene ID | 23348 | 7399 |
Gene name | dedicator of cytokinesis 9 | usherin | |
Synonyms | ZIZ1|ZIZIMIN1 | RP39|US2|USH2|dJ1111A8.1 | |
Cytomap | 13q32.3 | 1q41 | |
Type of gene | protein-coding | protein-coding | |
Description | dedicator of cytokinesis protein 9cdc42 guanine nucleotide exchange factor zizimin-1zizimin-1 | usherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A protein | |
Modification date | 20180522 | 20180520 | |
UniProtAcc | Q9BZ29 | O75445 | |
Ensembl transtripts involved in fusion gene | ENST00000376460, ENST00000339416, ENST00000448493, ENST00000442173, ENST00000461998, | ENST00000366943, ENST00000307340, ENST00000366942, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 3 X 3 X 3=27 |
# samples | 5 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | COAD | TCGA-QL-A97D-01A | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000376460 | ENST00000366943 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000376460 | ENST00000307340 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
5CDS-intron | ENST00000376460 | ENST00000366942 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000339416 | ENST00000366943 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000339416 | ENST00000307340 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
5CDS-intron | ENST00000339416 | ENST00000366942 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000448493 | ENST00000366943 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000448493 | ENST00000307340 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
5CDS-intron | ENST00000448493 | ENST00000366942 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000442173 | ENST00000366943 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
Frame-shift | ENST00000442173 | ENST00000307340 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
5CDS-intron | ENST00000442173 | ENST00000366942 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
intron-3CDS | ENST00000461998 | ENST00000366943 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
intron-3CDS | ENST00000461998 | ENST00000307340 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
intron-intron | ENST00000461998 | ENST00000366942 | DOCK9 | chr13 | 99607689 | - | USH2A | chr1 | 215812580 | - |
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FusionProtFeatures for DOCK9_USH2A |
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Hgene | Tgene |
DOCK9 | USH2A |
Involved in hearing and vision. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for DOCK9_USH2A |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DOCK9 | CDC42, CUL4B, LNX1, SMAD2, SMAD3, CDH1, DOCK10, C10orf88 | USH2A | BRCA1, FOXRED2, TP53 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DOCK9_USH2A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DOCK9_USH2A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DOCK9 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | USH2A | C1848634 | USHER SYNDROME, TYPE IIA | 24 | CTD_human;UNIPROT |
Tgene | USH2A | C3151138 | RETINITIS PIGMENTOSA 39 (disorder) | 12 | UNIPROT |
Tgene | USH2A | C0035334 | Retinitis Pigmentosa | 3 | CTD_human;HPO;ORPHANET |