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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: 13920

FusionGeneSummary for FRMPD3_PRPS1

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMPD3_PRPS1
Fusion gene ID: 13920
HgeneTgene
Gene symbol

FRMPD3

PRPS1

Gene ID

84443

5631

Gene nameFERM and PDZ domain containing 3phosphoribosyl pyrophosphate synthetase 1
Synonyms-ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI
Cytomap

Xq22.3

Xq22.3

Type of geneprotein-codingprotein-coding
DescriptionFERM and PDZ domain-containing protein 3ribose-phosphate pyrophosphokinase 1dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)deafness 2, perceptive, congenitaldeafness, X-linked 2, perceptive, congenitalphosphoribosyl pyrophosphate synthase Iribose-phosphate diphosphokinase 1
Modification date2018051920180523
UniProtAcc

Q5JV73

P60891

Ensembl transtripts involved in fusion geneENST00000276185, ENST00000477796, 
ENST00000372435, ENST00000372428, 
ENST00000372419, ENST00000543248, 
ENST00000372418, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 1 X 2=4
# samples 32
** MAII scorelog2(3/8*10)=1.90689059560852log2(2/4*10)=2.32192809488736
Context

PubMed: FRMPD3 [Title/Abstract] AND PRPS1 [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
TCGALDLGGTCGA-DU-7301-01AFRMPD3chrX

106819689

+PRPS1chrX

106882525

+
* 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
Frame-shiftENST00000276185ENST00000372435FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000276185ENST00000372428FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000276185ENST00000372419FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000276185ENST00000543248FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
5CDS-intronENST00000276185ENST00000372418FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
intron-3CDSENST00000477796ENST00000372435FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
intron-5UTRENST00000477796ENST00000372428FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
intron-5UTRENST00000477796ENST00000372419FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
intron-5UTRENST00000477796ENST00000543248FRMPD3chrX

106819689

+PRPS1chrX

106882525

+
intron-intronENST00000477796ENST00000372418FRMPD3chrX

106819689

+PRPS1chrX

106882525

+

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FusionProtFeatures for FRMPD3_PRPS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRMPD3

Q5JV73

PRPS1

P60891

Catalyzes the synthesis of phosphoribosylpyrophosphate(PRPP) that is essential for nucleotide synthesis.

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 FRMPD3_PRPS1


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 FRMPD3_PRPS1


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
FRMPD3PRPS1SPG21, PRPS1, GORASP2, PRPSAP1, PARK2, PRPS2, TWF1, NARS, SMURF1, YWHAE, FBXO6, PFDN1, TUBA4A, ASB11, ASB18, DNAJA4, RPAP3, EML4, HSP90AB4P, PRPSAP2, NMT2, NDUFB9, PRPS1L1, CDK5RAP2, NFRKB, ELP3, PLS1, BOD1L1, UBB, SETD1A, RPS4Y1, ELF2, BRMS1, GTF2F1, CXXC1, FARSA, NMD3, PPAT, TP53RK, SBDS, NTRK1, POC5, STIL, TCTN1, PRPF19, FBXO31, KLHL13, TOP1MT, ATOH1, CRBN, DUSP28, DLD


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 FRMPD3_PRPS1


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 FRMPD3_PRPS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRPS1C0043094Weight Gain1CTD_human
TgenePRPS1C0796028ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION1CTD_human;ORPHANET;UNIPROT
TgenePRPS1C1839566CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 51CTD_human;ORPHANET;UNIPROT
TgenePRPS1C1844677DEAFNESS, X-LINKED 1 (disorder)1CTD_human;UNIPROT
TgenePRPS1C1970827Phosphoribosylpyrophosphate Synthetase Superactivity1CTD_human;UNIPROT