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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: 24738

FusionGeneSummary for NPM1_PTMA

check button Fusion gene summary
Fusion gene informationFusion gene name: NPM1_PTMA
Fusion gene ID: 24738
HgeneTgene
Gene symbol

NPM1

PTMA

Gene ID

4869

5757

Gene namenucleophosmin 1prothymosin alpha
SynonymsB23|NPMTMSA
Cytomap

5q35.1

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionnucleophosminnucleolar protein NO38nucleophosmin (nucleolar phosphoprotein B23, numatrin)nucleophosmin/nucleoplasmin family, member 1testicular tissue protein Li 128prothymosin alphagene sequence 28prothymosin alpha proteinprothymosin-I+/-
Modification date2018052320180522
UniProtAcc

P06748

P06454

Ensembl transtripts involved in fusion geneENST00000517671, ENST00000296930, 
ENST00000351986, ENST00000393820, 
ENST00000466801, ENST00000409321, 
ENST00000409115, ENST00000341369, 
ENST00000409683, ENST00000410064, 
Fusion gene scores* DoF score6 X 4 X 3=7217 X 17 X 2=578
# samples 718
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/578*10)=-1.683072586171
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPM1 [Title/Abstract] AND PTMA [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
HgeneNPM1

GO:0006281

DNA repair

19188445

HgeneNPM1

GO:0006334

nucleosome assembly

11602260

HgeneNPM1

GO:0006913

nucleocytoplasmic transport

16041368

HgeneNPM1

GO:0008104

protein localization

18420587

HgeneNPM1

GO:0008284

positive regulation of cell proliferation

22528486

HgeneNPM1

GO:0032071

regulation of endodeoxyribonuclease activity

19188445

HgeneNPM1

GO:0034644

cellular response to UV

19160485

HgeneNPM1

GO:0043066

negative regulation of apoptotic process

12882984

HgeneNPM1

GO:0044387

negative regulation of protein kinase activity by regulation of protein phosphorylation

12882984

HgeneNPM1

GO:0045727

positive regulation of translation

12882984

HgeneNPM1

GO:0045893

positive regulation of transcription, DNA-templated

22528486

HgeneNPM1

GO:0045944

positive regulation of transcription by RNA polymerase II

19160485

HgeneNPM1

GO:0051259

protein complex oligomerization

18809582

HgeneNPM1

GO:0060699

regulation of endoribonuclease activity

19188445

HgeneNPM1

GO:0060735

regulation of eIF2 alpha phosphorylation by dsRNA

12882984

HgeneNPM1

GO:1902751

positive regulation of cell cycle G2/M phase transition

22528486


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
ChiTaRS3.1BG255268NPM1chr5

170818771

+PTMAchr2

232576618

+
* 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
5CDS-3UTRENST00000517671ENST00000466801NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000517671ENST00000409321NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000517671ENST00000409115NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000517671ENST00000341369NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000517671ENST00000409683NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000517671ENST00000410064NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000296930ENST00000466801NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000296930ENST00000409321NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000296930ENST00000409115NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000296930ENST00000341369NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000296930ENST00000409683NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000296930ENST00000410064NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000351986ENST00000466801NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000351986ENST00000409321NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000351986ENST00000409115NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000351986ENST00000341369NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000351986ENST00000409683NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000351986ENST00000410064NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000393820ENST00000466801NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000393820ENST00000409321NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000393820ENST00000409115NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000393820ENST00000341369NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000393820ENST00000409683NPM1chr5

170818771

+PTMAchr2

232576618

+
5CDS-3UTRENST00000393820ENST00000410064NPM1chr5

170818771

+PTMAchr2

232576618

+

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FusionProtFeatures for NPM1_PTMA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPM1

P06748

PTMA

P06454

Prothymosin alpha may mediate immune function byconferring resistance to certain opportunistic infections.

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 NPM1_PTMA


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 NPM1_PTMA


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 NPM1_PTMA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNPM1P06748DB11638ArtenimolNucleophosminsmall moleculeapproved|investigational

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RelatedDiseases for NPM1_PTMA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPM1C0023467Leukemia, Myelocytic, Acute3CTD_human
HgeneNPM1C0023487Acute Promyelocytic Leukemia2CTD_human;ORPHANET
HgeneNPM1C0038356Stomach Neoplasms1CTD_human
TgenePTMAC0001430Adenoma1CTD_human
TgenePTMAC0015695Fatty Liver1CTD_human
TgenePTMAC0024121Lung Neoplasms1CTD_human
TgenePTMAC0035412Rhabdomyosarcoma1CTD_human