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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: 14121

FusionGeneSummary for FXR1_RPH3A

check button Fusion gene summary
Fusion gene informationFusion gene name: FXR1_RPH3A
Fusion gene ID: 14121
HgeneTgene
Gene symbol

FXR1

RPH3A

Gene ID

8087

22895

Gene nameFMR1 autosomal homolog 1rabphilin 3A
SynonymsFXR1P-
Cytomap

3q26.33

12q24.13

Type of geneprotein-codingprotein-coding
Descriptionfragile X mental retardation syndrome-related protein 1FXR1/MYC fusionfragile X mental retardation autosomal homolog variant p1Kfragile X mental retardation autosomal homolog variant p2Kfragile X mental retardation autosomal homolog variant p4Kfragilrabphilin-3Aexophilin-1rabphilin 3A homolog
Modification date2018052320180519
UniProtAcc

P51114

Q9Y2J0

Ensembl transtripts involved in fusion geneENST00000357559, ENST00000305586, 
ENST00000491674, ENST00000491062, 
ENST00000468861, ENST00000445140, 
ENST00000480918, 
ENST00000543106, 
ENST00000389385, ENST00000447659, 
ENST00000551052, ENST00000415485, 
ENST00000548866, ENST00000420983, 
ENST00000549913, 
Fusion gene scores* DoF score10 X 7 X 6=4205 X 5 X 5=125
# samples 115
** MAII scorelog2(11/420*10)=-1.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FXR1 [Title/Abstract] AND RPH3A [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
HgeneFXR1

GO:2000637

positive regulation of gene silencing by miRNA

17057366


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
TCGALDLUADTCGA-50-6595-01AFXR1chr3

180675716

+RPH3Achr12

113155811

+
* 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-intronENST00000357559ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000357559ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000305586ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
intron-intronENST00000491674ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000491062ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000468861ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000445140ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000543106FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000389385FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000447659FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000551052FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000415485FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000548866FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000420983FXR1chr3

180675716

+RPH3Achr12

113155811

+
5CDS-intronENST00000480918ENST00000549913FXR1chr3

180675716

+RPH3Achr12

113155811

+

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FusionProtFeatures for FXR1_RPH3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FXR1

P51114

RPH3A

Q9Y2J0

RNA-binding protein required for embryonic and postnataldevelopment of muscle tissue. May regulate intracellular transportand local translation of certain mRNAs (By similarity).{ECO:0000250}. Protein transport. Probably involved with Ras-relatedprotein Rab-3A in synaptic vesicle traffic and/or synaptic vesiclefusion. Could play a role in neurotransmitter release byregulating membrane flow in the nerve terminal (By similarity).{ECO:0000250}.

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 FXR1_RPH3A


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 FXR1_RPH3A


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
FXR1FMR1, CYFIP2, CRMP1, GBP2, KIAA1377, C14orf1, LUC7L2, LRIF1, PRSS23, FXR2, CYFIP1, FXR1, GIGYF2, HDAC5, ELAVL1, SIRT7, TDRD3, CUL3, COPS5, CAND1, CSNK2A1, CAPRIN1, LRWD1, ORC2, RANBP9, TOP3B, UBAP2, CUL7, CCDC8, SUZ12, BMI1, WDR76, MAGEA4, PINX1, LUC7L, HSPB1, NTRK1, IFI16, CCNA2, CCNB1, CLU, CDK18, PRKCD, SNCA, TSNAX, BCLAF1, THOC1, NOP56, PLK2, CCDC93, UBA6, THOC2, SLAIN2, MYH7B, TUBA1C, CEP170P1, GLI1, FOXQ1, FOXS1, NFATC1, LGALS3BP, RRP8, PLEKHO1, ZNF512, G3BP1RPH3AYWHAH, RAB3A, RAB3B, CASK, GCH1, ADD2, NTRK1, MPP5, DOC2B, RAB8B, TP63, RAB27A, ALOX15B, RAB8A, UBE3A


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 FXR1_RPH3A


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 FXR1_RPH3A


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