![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 40946 |
FusionGeneSummary for USH2A_ROBO2 |
![]() |
Fusion gene information | Fusion gene name: USH2A_ROBO2 | Fusion gene ID: 40946 | Hgene | Tgene | Gene symbol | USH2A | ROBO2 | Gene ID | 7399 | 6092 |
Gene name | usherin | roundabout guidance receptor 2 | |
Synonyms | RP39|US2|USH2|dJ1111A8.1 | SAX3 | |
Cytomap | 1q41 | 3p12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | usherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A protein | roundabout homolog 2roundabout, axon guidance receptor, homolog 2 | |
Modification date | 20180520 | 20180519 | |
UniProtAcc | O75445 | Q9HCK4 | |
Ensembl transtripts involved in fusion gene | ENST00000366943, ENST00000307340, ENST00000366942, | ENST00000487694, ENST00000461745, ENST00000332191, ENST00000469233, | |
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 8 X 8 X 6=384 |
# samples | 3 | 8 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/384*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: USH2A [Title/Abstract] AND ROBO2 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ROBO2 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 12504588 |
Tgene | ROBO2 | GO:0050772 | positive regulation of axonogenesis | 12504588 |
Tgene | ROBO2 | GO:0050925 | negative regulation of negative chemotaxis | 11748139 |
![]() (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 |
ChiTaRS3.1 | N39450 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
* 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 |
intron-intron | ENST00000366943 | ENST00000487694 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366943 | ENST00000461745 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366943 | ENST00000332191 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366943 | ENST00000469233 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000307340 | ENST00000487694 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000307340 | ENST00000461745 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000307340 | ENST00000332191 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000307340 | ENST00000469233 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366942 | ENST00000487694 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366942 | ENST00000461745 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366942 | ENST00000332191 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
intron-intron | ENST00000366942 | ENST00000469233 | USH2A | chr1 | 216230391 | + | ROBO2 | chr3 | 76442536 | + |
Top |
FusionProtFeatures for USH2A_ROBO2 |
![]() |
Hgene | Tgene |
USH2A | ROBO2 |
Involved in hearing and vision. | Receptor for SLIT2, and probably SLIT1, which arethought to act as molecular guidance cue in cellular migration,including axonal navigation at the ventral midline of the neuraltube and projection of axons to different regions during neuronaldevelopment. |
![]() * 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 |
Top |
FusionGeneSequence for USH2A_ROBO2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for USH2A_ROBO2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for USH2A_ROBO2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for USH2A_ROBO2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | USH2A | C1848634 | USHER SYNDROME, TYPE IIA | 24 | CTD_human;UNIPROT |
Hgene | USH2A | C3151138 | RETINITIS PIGMENTOSA 39 (disorder) | 12 | UNIPROT |
Hgene | USH2A | C0035334 | Retinitis Pigmentosa | 3 | CTD_human;HPO;ORPHANET |
Tgene | ROBO2 | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | ROBO2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | ROBO2 | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
Tgene | ROBO2 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Tgene | ROBO2 | C1970483 | Vesicoureteral Reflux 2 | 1 | CTD_human;UNIPROT |