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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: 16755

FusionGeneSummary for HPS3_RBFOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: HPS3_RBFOX1
Fusion gene ID: 16755
HgeneTgene
Gene symbol

HPS3

RBFOX1

Gene ID

84343

54715

Gene nameHPS3, biogenesis of lysosomal organelles complex 2 subunit 1RNA binding fox-1 homolog 1
SynonymsBLOC2S1|SUTAL2BP1|A2BP1|FOX-1|FOX1|HRNBP1
Cytomap

3q24

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionHermansky-Pudlak syndrome 3 proteinRNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar
Modification date2018052320180523
UniProtAcc

Q969F9

Q9NWB1

Ensembl transtripts involved in fusion geneENST00000296051, ENST00000460120, 
ENST00000494327, 		ENST00000550418, 
ENST00000553186, ENST00000547372, 
ENST00000422070, ENST00000535565, 
ENST00000547427, ENST00000552089, 
ENST00000547338, ENST00000436368, 
ENST00000311745, ENST00000355637, 
ENST00000340209, 
Fusion gene scores* DoF score3 X 2 X 3=1814 X 12 X 6=1008
# samples 314
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/1008*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HPS3 [Title/Abstract] AND RBFOX1 [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
ChiTaRS3.1BI040582HPS3chr3

148888591

-RBFOX1chr16

6236657

+
* 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-intronENST00000296051ENST00000550418HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000553186HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000547372HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000422070HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000535565HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000547427HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000552089HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000547338HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000436368HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000311745HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000355637HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000296051ENST00000340209HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000550418HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000553186HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000547372HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000422070HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000535565HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000547427HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000552089HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000547338HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000436368HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000311745HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000355637HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000460120ENST00000340209HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000550418HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000553186HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000547372HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000422070HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000535565HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000547427HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000552089HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000547338HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000436368HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000311745HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000355637HPS3chr3

148888591

-RBFOX1chr16

6236657

+
intron-intronENST00000494327ENST00000340209HPS3chr3

148888591

-RBFOX1chr16

6236657

+

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FusionProtFeatures for HPS3_RBFOX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HPS3

Q969F9

RBFOX1

Q9NWB1

Involved in early stages of melanosome biogenesis andmaturation. {ECO:0000250|UniProtKB:Q91VB4}. RNA-binding protein that regulates alternative splicingevents by binding to 5'-UGCAUGU-3' elements. Regulates alternativesplicing of tissue-specific exons and of differentially splicedexons during erythropoiesis. {ECO:0000269|PubMed:16537540}.

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 HPS3_RBFOX1


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 HPS3_RBFOX1


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


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RelatedDrugs for HPS3_RBFOX1


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 HPS3_RBFOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHPS3C3888001HERMANSKY-PUDLAK SYNDROME 31UNIPROT
TgeneRBFOX1C0004352Autistic Disorder2CTD_human
TgeneRBFOX1C0036572Seizures1CTD_human