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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: 16749

FusionGeneSummary for HPRT1_HNRNPDL

check button Fusion gene summary
Fusion gene informationFusion gene name: HPRT1_HNRNPDL
Fusion gene ID: 16749
HgeneTgene
Gene symbol

HPRT1

HNRNPDL

Gene ID

3251

9987

Gene namehypoxanthine phosphoribosyltransferase 1heterogeneous nuclear ribonucleoprotein D like
SynonymsHGPRT|HPRTHNRNP|HNRPDL|JKTBP|JKTBP2|LGMD1G|laAUF1
Cytomap

Xq26.2-q26.3

4q21.22

Type of geneprotein-codingprotein-coding
Descriptionhypoxanthine-guanine phosphoribosyltransferaseHGPRTasehypoxanthine-guanine phosphoribosyltransferase 1testicular tissue protein Li 89heterogeneous nuclear ribonucleoprotein D-likeA+U-rich element RNA binding factorAU-rich element RNA-binding factorJKT41-binding proteinhnRNP D-likehnRNP DLprotein laAUF1
Modification date2018052320180523
UniProtAcc

P00492

O14979

Ensembl transtripts involved in fusion geneENST00000298556, ENST00000462974, 
ENST00000295470, ENST00000349655, 
ENST00000602300, ENST00000502762, 
ENST00000514511, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 7 X 3=147
# samples 39
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneHPRT1

GO:0006178

guanine salvage

19527031

HgeneHPRT1

GO:0043103

hypoxanthine salvage

19527031

HgeneHPRT1

GO:0046038

GMP catabolic process

19527031

HgeneHPRT1

GO:0046040

IMP metabolic process

19527031

HgeneHPRT1

GO:0051289

protein homotetramerization

9521733


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
ChiTaRS3.1BE467833HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
* 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
3UTR-3CDSENST00000298556ENST00000295470HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
3UTR-3CDSENST00000298556ENST00000349655HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
3UTR-3CDSENST00000298556ENST00000602300HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
3UTR-3CDSENST00000298556ENST00000502762HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
3UTR-intronENST00000298556ENST00000514511HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
intron-3CDSENST00000462974ENST00000295470HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
intron-3CDSENST00000462974ENST00000349655HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
intron-3CDSENST00000462974ENST00000602300HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
intron-3CDSENST00000462974ENST00000502762HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-
intron-intronENST00000462974ENST00000514511HPRT1chrX

133634339

-HNRNPDLchr4

83349569

-

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FusionProtFeatures for HPRT1_HNRNPDL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HPRT1

P00492

HNRNPDL

O14979

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}.

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 HPRT1_HNRNPDL


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 HPRT1_HNRNPDL


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


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 HPRT1_HNRNPDL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHPRT1P00492DB00993AzathioprineHypoxanthine-guanine phosphoribosyltransferasesmall moleculeapproved
HgeneHPRT1P00492DB01033MercaptopurineHypoxanthine-guanine phosphoribosyltransferasesmall moleculeapproved

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RelatedDiseases for HPRT1_HNRNPDL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHPRT1C0268117Gout, HPRT-Related15CTD_human;ORPHANET;UNIPROT
HgeneHPRT1C0023374Lesch-Nyhan Syndrome13CTD_human;ORPHANET;UNIPROT
HgeneHPRT1C0740394Hyperuricemia1CTD_human
HgeneHPRT1C1959897Alcohol consumption during pregnancy1PSYGENET
TgeneHNRNPDLC1836765LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)1ORPHANET;UNIPROT