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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: 27864

FusionGeneSummary for PNPT1_ASAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PNPT1_ASAP1
Fusion gene ID: 27864
HgeneTgene
Gene symbol

PNPT1

ASAP1

Gene ID

87178

50807

Gene namepolyribonucleotide nucleotidyltransferase 1ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
SynonymsCOXPD13|DFNB70|OLD35|PNPASE|old-35AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P
Cytomap

2p16.1

8q24.21-q24.22

Type of geneprotein-codingprotein-coding
Descriptionpolyribonucleotide nucleotidyltransferase 1, mitochondrial3'-5' RNA exonuclease OLD35PNPase 1PNPase old-35polynucleotide phosphorylase 1polynucleotide phosphorylase-like proteinarf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosyl
Modification date2018052320180523
UniProtAcc

Q8TCS8

Q9ULH1

Ensembl transtripts involved in fusion geneENST00000447944, ENST00000357668, 
ENST00000518721, ENST00000520625, 
Fusion gene scores* DoF score2 X 3 X 1=66 X 6 X 3=108
# samples 46
** MAII scorelog2(4/6*10)=2.73696559416621log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PNPT1 [Title/Abstract] AND ASAP1 [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
HgenePNPT1

GO:0000957

mitochondrial RNA catabolic process

18501193

HgenePNPT1

GO:0000958

mitochondrial mRNA catabolic process

20691904

HgenePNPT1

GO:0000962

positive regulation of mitochondrial RNA catabolic process

19509288

HgenePNPT1

GO:0006401

RNA catabolic process

18083836

HgenePNPT1

GO:0006402

mRNA catabolic process

12721301|16055741

HgenePNPT1

GO:0034599

cellular response to oxidative stress

18501193

HgenePNPT1

GO:0035458

cellular response to interferon-beta

16410805

HgenePNPT1

GO:0035927

RNA import into mitochondrion

20691904

HgenePNPT1

GO:0035928

rRNA import into mitochondrion

20691904

HgenePNPT1

GO:0043631

RNA polyadenylation

18083836

HgenePNPT1

GO:0045926

negative regulation of growth

12721301

HgenePNPT1

GO:0051260

protein homooligomerization

20691904

HgenePNPT1

GO:0070207

protein homotrimerization

19509288|20691904

HgenePNPT1

GO:0071042

nuclear polyadenylation-dependent mRNA catabolic process

16934922

HgenePNPT1

GO:0071850

mitotic cell cycle arrest

12721301

HgenePNPT1

GO:2000627

positive regulation of miRNA catabolic process

20547861

HgenePNPT1

GO:2000772

regulation of cellular senescence

16055741


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
ChiTaRS3.1BF895069PNPT1chr2

55899697

-ASAP1chr8

131065683

+
* 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
intron-3UTRENST00000447944ENST00000357668PNPT1chr2

55899697

-ASAP1chr8

131065683

+
intron-3UTRENST00000447944ENST00000518721PNPT1chr2

55899697

-ASAP1chr8

131065683

+
intron-intronENST00000447944ENST00000520625PNPT1chr2

55899697

-ASAP1chr8

131065683

+

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FusionProtFeatures for PNPT1_ASAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PNPT1

Q8TCS8

ASAP1

Q9ULH1

RNA-binding protein implicated in numerous RNA metabolicprocesses. Catalyzes the phosphorolysis of single-strandedpolyribonucleotides processively in the 3'-to-5' direction.Mitochondrial intermembrane factor with RNA-processingexoribonulease activity. Component of the mitochondrialdegradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependentmanner. Required for correct processing and polyadenylation ofmitochondrial mRNAs. Plays a role as a cytoplasmic RNA importfactor that mediates the translocation of small RNA components,like the 5S RNA, the RNA subunit of ribonuclease P and themitochondrial RNA-processing (MRP) RNA, into the mitochondrialmatrix. Plays a role in mitochondrial morphogenesis andrespiration; regulates the expression of the electron transportchain (ETC) components at the mRNA and protein levels. In thecytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNAdegradation activity; degrades c-myc mRNA upon treatment withIFNB1/IFN-beta, resulting in a growth arrest in melanoma cells.Regulates the stability of specific mature miRNAs in melanomacells; specifically and selectively degrades miR-221,preferentially. Plays also a role in RNA cell surveillance bycleaning up oxidized RNAs. Binds to the RNA subunit ofribonuclease P, MRP RNA and miR-221 microRNA.{ECO:0000269|PubMed:12473748, ECO:0000269|PubMed:12721301,ECO:0000269|PubMed:12798676, ECO:0000269|PubMed:16055741,ECO:0000269|PubMed:16410805, ECO:0000269|PubMed:16934922,ECO:0000269|PubMed:18083836, ECO:0000269|PubMed:18083837,ECO:0000269|PubMed:18501193, ECO:0000269|PubMed:19509288,ECO:0000269|PubMed:20547861, ECO:0000269|PubMed:20691904}. Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADPribosylation factor 1) and ARF5 and a lesser activity towardsARF6. May coordinate membrane trafficking with cell growth oractin cytoskeleton remodeling by binding to both SRC and PIP2. Mayfunction as a signal transduction protein involved in thedifferentiation of fibroblasts into adipocytes and possibly othercell types (By similarity). Plays a role in ciliogenesis.{ECO:0000250, ECO:0000269|PubMed:20393563}.

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 PNPT1_ASAP1


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 PNPT1_ASAP1


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 PNPT1_ASAP1


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 PNPT1_ASAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePNPT1C1824925DEAFNESS, AUTOSOMAL RECESSIVE 701UNIPROT
HgenePNPT1C2239176Liver carcinoma1CTD_human
HgenePNPT1C3554129COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 131ORPHANET;UNIPROT
TgeneASAP1C0005695Bladder Neoplasm1CTD_human
TgeneASAP1C0041327Tuberculosis, Pulmonary1CTD_human