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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: 35883

FusionGeneSummary for SQLE_RBFOX3

check button Fusion gene summary
Fusion gene informationFusion gene name: SQLE_RBFOX3
Fusion gene ID: 35883
HgeneTgene
Gene symbol

SQLE

RBFOX3

Gene ID

6713

146713

Gene namesqualene epoxidaseRNA binding fox-1 homolog 3
Synonyms-FOX-3|FOX3|HRNBP3|NEUN
Cytomap

8q24.13

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionsqualene monooxygenaseSERNA binding protein fox-1 homolog 3RNA binding protein, fox-1 homolog 3fox-1 homolog Chexaribonucleotide binding protein 3neuN antigenneuronal nuclei antigen
Modification date2018052320180523
UniProtAcc

Q14534

A6NFN3

Ensembl transtripts involved in fusion geneENST00000523430, ENST00000265896, 
ENST00000453134, ENST00000583458, 
ENST00000415831, ENST00000582043, 
ENST00000580155, ENST00000584778, 
ENST00000578887, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 3 X 6=108
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SQLE [Title/Abstract] AND RBFOX3 [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
TCGALDLIHCTCGA-CC-A8HV-01ASQLEchr8

126023874

+RBFOX3chr17

77303906

-
* 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
5CDS-5UTRENST00000523430ENST00000453134SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000523430ENST00000583458SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000523430ENST00000415831SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-intronENST00000523430ENST00000582043SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000523430ENST00000580155SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000523430ENST00000584778SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000523430ENST00000578887SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000265896ENST00000453134SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000265896ENST00000583458SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000265896ENST00000415831SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-intronENST00000265896ENST00000582043SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000265896ENST00000580155SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000265896ENST00000584778SQLEchr8

126023874

+RBFOX3chr17

77303906

-
5CDS-5UTRENST00000265896ENST00000578887SQLEchr8

126023874

+RBFOX3chr17

77303906

-

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FusionProtFeatures for SQLE_RBFOX3


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

Q14534

RBFOX3

A6NFN3

Catalyzes the first oxygenation step in sterolbiosynthesis and is suggested to be one of the rate-limitingenzymes in this pathway. Pre-mRNA alternative splicing regulator. Regulatesalternative splicing of RBFOX2 to enhance the production of mRNAspecies that are targeted for nonsense-mediated decay (NMD).{ECO:0000250|UniProtKB:Q8BIF2}.

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 SQLE_RBFOX3


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 SQLE_RBFOX3


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
SQLEALDOC, CREB3, ZNF641, MARCH6, TREML2, FAF2, SLC39A12, ZNRF4, CHRND, HLA-DRB1, SLC18A1, PCDHGA5, ATP2B2, TMCO3, SLC17A2RBFOX3ANKRD26P1, GINM1, MRPS30, SLC38A6, FAM136A, SLC2A5


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 SQLE_RBFOX3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSQLEQ14534DB00735NaftifineSqualene monooxygenasesmall moleculeapproved
HgeneSQLEQ14534DB01091ButenafineSqualene monooxygenasesmall moleculeapproved
HgeneSQLEQ14534DB00857TerbinafineSqualene monooxygenasesmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for SQLE_RBFOX3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSQLEC0023904Liver Neoplasms, Experimental1CTD_human