FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 40946

FusionGeneSummary for USH2A_ROBO2

check button Fusion gene summary
Fusion gene informationFusion gene name: USH2A_ROBO2
Fusion gene ID: 40946
HgeneTgene
Gene symbol

USH2A

ROBO2

Gene ID

7399

6092

Gene nameusherinroundabout guidance receptor 2
SynonymsRP39|US2|USH2|dJ1111A8.1SAX3
Cytomap

1q41

3p12.3

Type of geneprotein-codingprotein-coding
DescriptionusherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A proteinroundabout homolog 2roundabout, axon guidance receptor, homolog 2
Modification date2018052020180519
UniProtAcc

O75445

Q9HCK4

Ensembl transtripts involved in fusion geneENST00000366943, ENST00000307340, 
ENST00000366942, 
ENST00000487694, 
ENST00000461745, ENST00000332191, 
ENST00000469233, 
Fusion gene scores* DoF score3 X 3 X 1=98 X 8 X 6=384
# samples 38
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneROBO2

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

12504588

TgeneROBO2

GO:0050772

positive regulation of axonogenesis

12504588

TgeneROBO2

GO:0050925

negative regulation of negative chemotaxis

11748139


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
ChiTaRS3.1N39450USH2Achr1

216230391

+ROBO2chr3

76442536

+
* 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
intron-intronENST00000366943ENST00000487694USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366943ENST00000461745USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366943ENST00000332191USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366943ENST00000469233USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000307340ENST00000487694USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000307340ENST00000461745USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000307340ENST00000332191USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000307340ENST00000469233USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366942ENST00000487694USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366942ENST00000461745USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366942ENST00000332191USH2Achr1

216230391

+ROBO2chr3

76442536

+
intron-intronENST00000366942ENST00000469233USH2Achr1

216230391

+ROBO2chr3

76442536

+

Top

FusionProtFeatures for USH2A_ROBO2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USH2A

O75445

ROBO2

Q9HCK4

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.

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

FusionGeneSequence for USH2A_ROBO2


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).

Top

FusionGenePPI for USH2A_ROBO2


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

RelatedDrugs for USH2A_ROBO2


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

Top

RelatedDiseases for USH2A_ROBO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSH2AC1848634USHER SYNDROME, TYPE IIA24CTD_human;UNIPROT
HgeneUSH2AC3151138RETINITIS PIGMENTOSA 39 (disorder)12UNIPROT
HgeneUSH2AC0035334Retinitis Pigmentosa3CTD_human;HPO;ORPHANET
TgeneROBO2C0004352Autistic Disorder1CTD_human
TgeneROBO2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneROBO2C0023897Liver Diseases, Parasitic1CTD_human
TgeneROBO2C0206698Cholangiocarcinoma1CTD_human
TgeneROBO2C1970483Vesicoureteral Reflux 21CTD_human;UNIPROT