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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: 30652

FusionGeneSummary for RBFOX1_SMYD3

check button Fusion gene summary
Fusion gene informationFusion gene name: RBFOX1_SMYD3
Fusion gene ID: 30652
HgeneTgene
Gene symbol

RBFOX1

SMYD3

Gene ID

54715

64754

Gene nameRNA binding fox-1 homolog 1SET and MYND domain containing 3
Synonyms2BP1|A2BP1|FOX-1|FOX1|HRNBP1KMT3E|ZMYND1|ZNFN3A1|bA74P14.1
Cytomap

16p13.3

1q44

Type of geneprotein-codingprotein-coding
DescriptionRNA 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 betahexarhistone-lysine N-methyltransferase SMYD3SET and MYND domain-containing protein 3bA74P14.1 (novel protein)zinc finger MYND domain-containing protein 1zinc finger protein, subfamily 3A (MYND domain containing), 1zinc finger, MYND domain containing 1
Modification date2018052320180519
UniProtAcc

Q9NWB1

Q9H7B4

Ensembl transtripts involved in fusion geneENST00000550418, ENST00000553186, 
ENST00000547372, ENST00000422070, 
ENST00000535565, ENST00000547427, 
ENST00000552089, ENST00000547338, 
ENST00000436368, ENST00000311745, 
ENST00000355637, ENST00000340209, 
ENST00000541742, ENST00000490107, 
ENST00000388985, ENST00000366517, 
ENST00000403792, 
Fusion gene scores* DoF score3 X 3 X 1=917 X 9 X 13=1989
# samples 331
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(31/1989*10)=-2.68170315555951
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBFOX1 [Title/Abstract] AND SMYD3 [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
ChiTaRS3.1AI141205RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
* 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-intronENST00000550418ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000550418ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000550418ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000550418ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000550418ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000553186ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000553186ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000553186ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000553186ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000553186ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000547372ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000547372ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000547372ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000547372ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000547372ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000422070ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000422070ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000422070ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000422070ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000422070ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000535565ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000535565ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000535565ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000535565ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000535565ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547427ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547427ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547427ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547427ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547427ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000552089ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000552089ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000552089ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000552089ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000552089ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547338ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547338ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547338ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547338ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000547338ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000436368ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000436368ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000436368ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000436368ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
intron-intronENST00000436368ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000311745ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000311745ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000311745ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000311745ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000311745ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000355637ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000355637ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000355637ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000355637ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000355637ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000340209ENST00000541742RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000340209ENST00000490107RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000340209ENST00000388985RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000340209ENST00000366517RBFOX1chr16

7760885

-SMYD3chr1

246115762

-
3UTR-intronENST00000340209ENST00000403792RBFOX1chr16

7760885

-SMYD3chr1

246115762

-

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FusionProtFeatures for RBFOX1_SMYD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBFOX1

Q9NWB1

SMYD3

Q9H7B4

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}. Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but notmonomethylation (PubMed:15235609, PubMed:22419068). Alsomethylates 'Lys-5' of histone H4 (PubMed:22419068). Plays animportant role in transcriptional activation as a member of an RNApolymerase complex (PubMed:15235609). Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences (PubMed:15235609).{ECO:0000269|PubMed:15235609, ECO:0000269|PubMed:22419068}.

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 RBFOX1_SMYD3


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 RBFOX1_SMYD3


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 RBFOX1_SMYD3


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 RBFOX1_SMYD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBFOX1C0004352Autistic Disorder2CTD_human
HgeneRBFOX1C0036572Seizures1CTD_human
TgeneSMYD3C0236733Amphetamine-Related Disorders1CTD_human