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Fusion gene ID: 16749 |
FusionGeneSummary for HPRT1_HNRNPDL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HPRT1_HNRNPDL | Fusion gene ID: 16749 | Hgene | Tgene | Gene symbol | HPRT1 | HNRNPDL | Gene ID | 3251 | 9987 |
| Gene name | hypoxanthine phosphoribosyltransferase 1 | heterogeneous nuclear ribonucleoprotein D like | |
| Synonyms | HGPRT|HPRT | HNRNP|HNRPDL|JKTBP|JKTBP2|LGMD1G|laAUF1 | |
| Cytomap | Xq26.2-q26.3 | 4q21.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hypoxanthine-guanine phosphoribosyltransferaseHGPRTasehypoxanthine-guanine phosphoribosyltransferase 1testicular tissue protein Li 89 | heterogeneous nuclear ribonucleoprotein D-likeA+U-rich element RNA binding factorAU-rich element RNA-binding factorJKT41-binding proteinhnRNP D-likehnRNP DLprotein laAUF1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P00492 | O14979 | |
| Ensembl transtripts involved in fusion gene | ENST00000298556, ENST00000462974, | ENST00000295470, ENST00000349655, ENST00000602300, ENST00000502762, ENST00000514511, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 7 X 7 X 3=147 |
| # samples | 3 | 9 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/147*10)=-0.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HPRT1 [Title/Abstract] AND HNRNPDL [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | HPRT1 | GO:0006178 | guanine salvage | 19527031 |
| Hgene | HPRT1 | GO:0043103 | hypoxanthine salvage | 19527031 |
| Hgene | HPRT1 | GO:0046038 | GMP catabolic process | 19527031 |
| Hgene | HPRT1 | GO:0046040 | IMP metabolic process | 19527031 |
| Hgene | HPRT1 | GO:0051289 | protein homotetramerization | 9521733 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BE467833 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 3UTR-3CDS | ENST00000298556 | ENST00000295470 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| 3UTR-3CDS | ENST00000298556 | ENST00000349655 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| 3UTR-3CDS | ENST00000298556 | ENST00000602300 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| 3UTR-3CDS | ENST00000298556 | ENST00000502762 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| 3UTR-intron | ENST00000298556 | ENST00000514511 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| intron-3CDS | ENST00000462974 | ENST00000295470 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| intron-3CDS | ENST00000462974 | ENST00000349655 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| intron-3CDS | ENST00000462974 | ENST00000602300 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| intron-3CDS | ENST00000462974 | ENST00000502762 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
| intron-intron | ENST00000462974 | ENST00000514511 | HPRT1 | chrX | 133634339 | - | HNRNPDL | chr4 | 83349569 | - |
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FusionProtFeatures for HPRT1_HNRNPDL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HPRT1 | HNRNPDL |
| Converts guanine to guanosine monophosphate, andhypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto thepurine. Plays a central role in the generation of purinenucleotides through the purine salvage pathway. | Acts as a transcriptional regulator. Promotestranscription repression. Promotes transcription activation indifferentiated myotubes (By similarity). Binds to double- andsingle-stranded DNA sequences. Binds to the transcriptionsuppressor CATR sequence of the COX5B promoter (By similarity).Binds with high affinity to RNA molecules that contain AU-richelements (AREs) found within the 3'-UTR of many proto-oncogenesand cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A)mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C)RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensussequence. {ECO:0000250, ECO:0000269|PubMed:9538234}. |
| Retention 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 . * 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 HPRT1_HNRNPDL |
| 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 HPRT1_HNRNPDL |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HPRT1_HNRNPDL |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | HPRT1 | P00492 | DB00993 | Azathioprine | Hypoxanthine-guanine phosphoribosyltransferase | small molecule | approved |
| Hgene | HPRT1 | P00492 | DB01033 | Mercaptopurine | Hypoxanthine-guanine phosphoribosyltransferase | small molecule | approved |
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RelatedDiseases for HPRT1_HNRNPDL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HPRT1 | C0268117 | Gout, HPRT-Related | 15 | CTD_human;ORPHANET;UNIPROT |
| Hgene | HPRT1 | C0023374 | Lesch-Nyhan Syndrome | 13 | CTD_human;ORPHANET;UNIPROT |
| Hgene | HPRT1 | C0740394 | Hyperuricemia | 1 | CTD_human |
| Hgene | HPRT1 | C1959897 | Alcohol consumption during pregnancy | 1 | PSYGENET |
| Tgene | HNRNPDL | C1836765 | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) | 1 | ORPHANET;UNIPROT |
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