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Fusion gene ID: 13920 |
FusionGeneSummary for FRMPD3_PRPS1 |
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Fusion gene information | Fusion gene name: FRMPD3_PRPS1 | Fusion gene ID: 13920 | Hgene | Tgene | Gene symbol | FRMPD3 | PRPS1 | Gene ID | 84443 | 5631 |
Gene name | FERM and PDZ domain containing 3 | phosphoribosyl pyrophosphate synthetase 1 | |
Synonyms | - | ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI | |
Cytomap | Xq22.3 | Xq22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | FERM and PDZ domain-containing protein 3 | ribose-phosphate pyrophosphokinase 1dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)deafness 2, perceptive, congenitaldeafness, X-linked 2, perceptive, congenitalphosphoribosyl pyrophosphate synthase Iribose-phosphate diphosphokinase 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q5JV73 | P60891 | |
Ensembl transtripts involved in fusion gene | ENST00000276185, ENST00000477796, | ENST00000372435, ENST00000372428, ENST00000372419, ENST00000543248, ENST00000372418, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 1 X 2=4 |
# samples | 3 | 2 | |
** MAII score | log2(3/8*10)=1.90689059560852 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | LGG | TCGA-DU-7301-01A | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000276185 | ENST00000372435 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
5CDS-5UTR | ENST00000276185 | ENST00000372428 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
5CDS-5UTR | ENST00000276185 | ENST00000372419 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
5CDS-5UTR | ENST00000276185 | ENST00000543248 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
5CDS-intron | ENST00000276185 | ENST00000372418 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
intron-3CDS | ENST00000477796 | ENST00000372435 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
intron-5UTR | ENST00000477796 | ENST00000372428 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
intron-5UTR | ENST00000477796 | ENST00000372419 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
intron-5UTR | ENST00000477796 | ENST00000543248 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
intron-intron | ENST00000477796 | ENST00000372418 | FRMPD3 | chrX | 106819689 | + | PRPS1 | chrX | 106882525 | + |
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FusionProtFeatures for FRMPD3_PRPS1 |
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Hgene | Tgene |
FRMPD3 | PRPS1 |
Catalyzes the synthesis of phosphoribosylpyrophosphate(PRPP) that is essential for nucleotide synthesis. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for FRMPD3_PRPS1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FRMPD3 | PRPS1 | SPG21, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FRMPD3_PRPS1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FRMPD3_PRPS1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PRPS1 | C0043094 | Weight Gain | 1 | CTD_human |
Tgene | PRPS1 | C0796028 | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | PRPS1 | C1839566 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | PRPS1 | C1844677 | DEAFNESS, X-LINKED 1 (disorder) | 1 | CTD_human;UNIPROT |
Tgene | PRPS1 | C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | 1 | CTD_human;UNIPROT |