![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 16749 |
FusionGeneSummary for HPRT1_HNRNPDL |
![]() |
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) |
![]() |
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 |
![]() (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 |
![]() * 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 | - |
Top |
FusionProtFeatures for HPRT1_HNRNPDL |
![]() |
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}. |
![]() * 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 |
Top |
FusionGeneSequence for HPRT1_HNRNPDL |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for HPRT1_HNRNPDL |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for HPRT1_HNRNPDL |
![]() (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 |
Top |
RelatedDiseases for HPRT1_HNRNPDL |
![]() (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 |