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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: 4503

FusionGeneSummary for BSPRY_NPM1

check button Fusion gene summary
Fusion gene informationFusion gene name: BSPRY_NPM1
Fusion gene ID: 4503
HgeneTgene
Gene symbol

BSPRY

NPM1

Gene ID

54836

4869

Gene nameB-box and SPRY domain containingnucleophosmin 1
Synonyms-B23|NPM
Cytomap

9q32

5q35.1

Type of geneprotein-codingprotein-coding
DescriptionB box and SPRY domain-containing proteinB-box and SPRY-domain containing proteinzetin 1nucleophosminnucleolar protein NO38nucleophosmin (nucleolar phosphoprotein B23, numatrin)nucleophosmin/nucleoplasmin family, member 1testicular tissue protein Li 128
Modification date2018051920180523
UniProtAcc

Q5W0U4

P06748

Ensembl transtripts involved in fusion geneENST00000374183, ENST00000462085, 
ENST00000517671, ENST00000296930, 
ENST00000351986, ENST00000393820, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 2=32
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BSPRY [Title/Abstract] AND NPM1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneNPM1

GO:0006281

DNA repair

19188445

TgeneNPM1

GO:0006334

nucleosome assembly

11602260

TgeneNPM1

GO:0006913

nucleocytoplasmic transport

16041368

TgeneNPM1

GO:0008104

protein localization

18420587

TgeneNPM1

GO:0008284

positive regulation of cell proliferation

22528486

TgeneNPM1

GO:0032071

regulation of endodeoxyribonuclease activity

19188445

TgeneNPM1

GO:0034644

cellular response to UV

19160485

TgeneNPM1

GO:0043066

negative regulation of apoptotic process

12882984

TgeneNPM1

GO:0044387

negative regulation of protein kinase activity by regulation of protein phosphorylation

12882984

TgeneNPM1

GO:0045727

positive regulation of translation

12882984

TgeneNPM1

GO:0045893

positive regulation of transcription, DNA-templated

22528486

TgeneNPM1

GO:0045944

positive regulation of transcription by RNA polymerase II

19160485

TgeneNPM1

GO:0051259

protein complex oligomerization

18809582

TgeneNPM1

GO:0060699

regulation of endoribonuclease activity

19188445

TgeneNPM1

GO:0060735

regulation of eIF2 alpha phosphorylation by dsRNA

12882984

TgeneNPM1

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
TCGARVBRCATCGA-LL-A5YO-01ABSPRYchr9

116123017

+NPM1chr5

170837531

+
* 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
In-frameENST00000374183ENST00000517671BSPRYchr9

116123017

+NPM1chr5

170837531

+
Frame-shiftENST00000374183ENST00000296930BSPRYchr9

116123017

+NPM1chr5

170837531

+
Frame-shiftENST00000374183ENST00000351986BSPRYchr9

116123017

+NPM1chr5

170837531

+
5CDS-intronENST00000374183ENST00000393820BSPRYchr9

116123017

+NPM1chr5

170837531

+
3UTR-3CDSENST00000462085ENST00000517671BSPRYchr9

116123017

+NPM1chr5

170837531

+
3UTR-3CDSENST00000462085ENST00000296930BSPRYchr9

116123017

+NPM1chr5

170837531

+
3UTR-3CDSENST00000462085ENST00000351986BSPRYchr9

116123017

+NPM1chr5

170837531

+
3UTR-intronENST00000462085ENST00000393820BSPRYchr9

116123017

+NPM1chr5

170837531

+

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FusionProtFeatures for BSPRY_NPM1


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

Q5W0U4

NPM1

P06748

May regulate epithelial calcium transport by inhibitingTRPV5 activity. {ECO:0000250}.

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
HgeneBSPRYchr9:116123017chr5:170837531ENST00000374183+3617_65177403Zinc fingerNote=B box-type
TgeneNPM1chr9:116123017chr5:170837531ENST00000393820+010120_132-33260Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000393820+010161_188-33260Compositional biasNote=Asp/Glu-rich (highly acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000393820+0101_9-33260Compositional biasNote=Met-rich
TgeneNPM1chr9:116123017chr5:170837531ENST00000393820+010152_157-33260MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000393820+010191_197-33260MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000393820+010243_294-33260RegionNote=Required for nucleolar localization

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBSPRYchr9:116123017chr5:170837531ENST00000374183+36212_402177403DomainB30.2/SPRY
TgeneNPM1chr9:116123017chr5:170837531ENST00000296930+911120_132282295Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000296930+911161_188282295Compositional biasNote=Asp/Glu-rich (highly acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000296930+9111_9282295Compositional biasNote=Met-rich
TgeneNPM1chr9:116123017chr5:170837531ENST00000351986+810120_132253266Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000351986+810161_188253266Compositional biasNote=Asp/Glu-rich (highly acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000351986+8101_9253266Compositional biasNote=Met-rich
TgeneNPM1chr9:116123017chr5:170837531ENST00000517671+1012120_132282295Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000517671+1012161_188282295Compositional biasNote=Asp/Glu-rich (highly acidic)
TgeneNPM1chr9:116123017chr5:170837531ENST00000517671+10121_9282295Compositional biasNote=Met-rich
TgeneNPM1chr9:116123017chr5:170837531ENST00000296930+911152_157282295MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000296930+911191_197282295MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000351986+810152_157253266MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000351986+810191_197253266MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000517671+1012152_157282295MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000517671+1012191_197282295MotifNuclear localization signal
TgeneNPM1chr9:116123017chr5:170837531ENST00000296930+911243_294282295RegionNote=Required for nucleolar localization
TgeneNPM1chr9:116123017chr5:170837531ENST00000351986+810243_294253266RegionNote=Required for nucleolar localization
TgeneNPM1chr9:116123017chr5:170837531ENST00000517671+1012243_294282295RegionNote=Required for nucleolar localization


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FusionGeneSequence for BSPRY_NPM1


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.
>In-frame_BSPRY_ENST00000374183_chr9_116123017_+_NPM1_ENST00000517671_chr5_170837531_+_190aa
MSAEGAEPGPGSGSGPGPGPLCPEHGQALSWFCGSERRPVCAACAGLGGRCRGHRIRRAEERAEELRNKIVDQCERLQLQSAAITKYVAD
VLPGKNQRAVSMASAARELVIQRLSLVRSLCESEEQRLLEQVHGEEERAHQSILTQRVHWAEALQKLDTIRTGLVGMLTHLDDLQLIAIQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_BSPRY_ENST00000374183_chr9_116123017_+_NPM1_ENST00000517671_chr5_170837531_+_570nt
ATGTCCGCCGAGGGCGCGGAGCCGGGGCCGGGGTCCGGGTCCGGGCCCGGGCCGGGGCCACTCTGCCCCGAACACGGCCAGGCTCTGAGC
TGGTTCTGCGGCTCCGAGCGACGGCCCGTGTGCGCCGCCTGCGCGGGGTTGGGCGGTCGCTGCCGGGGGCACCGCATCCGCCGGGCGGAG
GAGCGCGCCGAGGAGCTGCGGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGAC
GTCCTGCCGGGGAAGAATCAAAGAGCAGTGAGCATGGCCAGTGCAGCGAGGGAACTGGTTATCCAGCGGTTGAGTCTGGTGAGGAGTCTT
TGCGAGAGCGAGGAGCAGCGGTTACTGGAACAGGTGCATGGCGAAGAGGAGCGGGCCCACCAGAGCATCCTGACACAGCGGGTGCACTGG
GCCGAGGCGCTGCAGAAACTTGACACCATCCGCACTGGCCTGGTGGGCATGCTTACTCACCTGGATGACCTCCAGCTGATTGCTATTCAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_BSPRY_ENST00000374183_chr9_116123017_+_NPM1_ENST00000517671_chr5_170837531_+_927nt
ACCTGCGACAGGTGGAGCGCACGGGGCGGGCGCACGGCCATGTCCGCCGAGGGCGCGGAGCCGGGGCCGGGGTCCGGGTCCGGGCCCGGG
CCGGGGCCACTCTGCCCCGAACACGGCCAGGCTCTGAGCTGGTTCTGCGGCTCCGAGCGACGGCCCGTGTGCGCCGCCTGCGCGGGGTTG
GGCGGTCGCTGCCGGGGGCACCGCATCCGCCGGGCGGAGGAGCGCGCCGAGGAGCTGCGGAACAAGATTGTGGACCAGTGTGAGAGGCTG
CAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGAGCATGGCCAGTGCAGCGAGG
GAACTGGTTATCCAGCGGTTGAGTCTGGTGAGGAGTCTTTGCGAGAGCGAGGAGCAGCGGTTACTGGAACAGGTGCATGGCGAAGAGGAG
CGGGCCCACCAGAGCATCCTGACACAGCGGGTGCACTGGGCCGAGGCGCTGCAGAAACTTGACACCATCCGCACTGGCCTGGTGGGCATG
CTTACTCACCTGGATGACCTCCAGCTGATTGCTATTCAAGATCTCTGGCAGTGGAGGAAGTCTCTTTAAGAAAATAGTTTAAACAATTTG
TTAAAAAATTTTCCGTCTTATTTCATTTCTGTAACAGTTGATATCTGGCTGTCCTTTTTATAATGCAGAGTGAGAACTTTCCCTACCGTG
TTTGATAAATGTTGTCCAGGTTCTATTGCCAAGAATGTGTTGTCCAAAATGCCTGTTTAGTTTTTAAAGATGGAACTCCACCCTTTGCTT
GGTTTTAAGTATGTATGGAATGTTATGATAGGACATAGTAGTAGCGGTGGTCAGACATGGAAATGGTGGGGAGACAAAAATATACATGTG


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FusionGenePPI for BSPRY_NPM1


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
BSPRYCEP162, NCS1, CEP55, DEAF1, RNF135, TMF1, HAUS4, MBLAC2, HAUS1, USP4, HSBP1, FEM1B, OSBPL1A, SEMG2, RAB11B, BTBD9, RUNX1T1, C17orf49, KLHL23, SEMG1, CENPHNPM1TCERG1, LYAR, USF2, HIST3H3, SWAP70, HAND2, NCL, OTUB1, AKT1, CDT1, RRP1B, GRB2, CENPF, CASKIN1, CDC14A, PIK3R1, NUP98, PPID, GRB7, NCAPG, NUMA1, NSUN2, PADI4, TP53, BARD1, BRCA1, H2AFX, CDKN2A, HMGA2, HMGA1, YY1, HIST1H3A, HIST2H2AC, HIST2H2BE, HIST1H4A, EP300, PML, RARA, CTNNBL1, FANCA, FANCC, TFAP2A, HDAC1, HDAC2, SMARCA4, DOT1L, ACACA, HNRNPM, HNRNPU, DDX21, HIST1H1C, SIRT1, YBX1, PC, YBX3, H1FX, HIST1H1A, ESR1, CDK5RAP3, ZNF668, UBC, RYK, SMN1, CD4, YWHAQ, USP36, CTCF, HDAC5, CDKN1A, NOP56, CENPA, AFF1, DYRK2, TOP1, CDK2, SREK1, SENP3, RB1, PARP1, HJURP, ARRB1, ARRB2, SIRT7, NPM3, NPM1, FBXO25, IRF1, CUL3, CUL4A, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, MDM2, PA2G4, PPP2R1A, MID1, GZF1, APEX1, COPS2, PLCG1, FBXO6, GAPDH, SIAH1, PTBP1, SRSF1, APP, RPL14, RPS6, RPL24, RPL6, NAP1L1, HNRNPR, RPS4X, PRPF6, LAMP2, SURF4, RPL10L, NAP1L4, ZYX, NUP62, NUP50, RPL5, YWHAE, FMNL1, CPSF6, HNRNPH1, PAPOLG, JUNB, MC4R, HIVEP2, CPSF1, CPSF2, CPSF4, CPSF3, FN1, VCAM1, CSNK2A1, NOS2, UBL4A, ITGA4, CBX2, CBX4, CBX8, PHB, EIF2AK2, XPO1, GZMM, PAN2, CD81, IGSF8, ICAM1, PRKCZ, KIF11, SQSTM1, FLNA, LLGL1, HSP90AA1, TRIM21, TUBA1C, HSP90AB1, PARD6B, CDC37, TUBB3, MRPL46, KCTD2, CLTC, MRPL50, VCP, KCTD5, MRPL12, HSPA5, PTRF, MRPL52, EEF1A1, KCTD17, TAB1, BAG2, ANXA2, EIF5A, PPIL4, MRPL38, STK38, FLNB, LGALS1, C1QBP, COPB1, MRPL37, MRPL49, KEAP1, PRDX4, WDR26, PSMC4, SDPR, SLC25A3, RPS12, EEF1B2, NIPSNAP1, EEF1G, MRPL39, DDX3X, RNH1, OSBPL1A, EIF3H, MRPL54, ENO1, MYCBP, MRPL18, MAP1B, PSMD1, EEF1D, DNAJC13, HSPB1, CFL1, FLNC, PPP1CC, RPLP1, CEP152, SNRPD1, ATP5A1, ARHGAP5, PRKAR1A, MRPL53, GID8, YWHAZ, CCT2, EIF3E, LAMB2, DICER1, CHCHD4, MRPL19, SNRPD2, GRWD1, TPR, PSMD4, PSMC5, PPP2CA, UNC5C, SLC25A5, PTPN14, RPS5, TTC27, BOLA2, EIF4A1, TUFM, S100A10, IMPG1, NUDT21, UTRN, MRPL44, EIF3M, MRPL43, PKM, IMPDH2, TRRAP, CHCHD6, RANBP6, EIF3I, TAB2, MRPL24, DZIP1, IPO5, AGR2, MRPS30, ICT1, PRDX6, TCP1, RCOR1, GRN, TXN, RPLP0, PCBP1, MRPL28, MRPL10, TAF3, EPAS1, CHCHD3, TXNDC12, ELMO2, SRRT, MRPL11, EIF2S1, SNRPF, KTN1, FGD6, UQCRH, RBBP4, DNAJA1, CTTN, USP15, NUDCD1, RPS28, JAK1, PROS1, PYGB, KDR, EEF2, FASN, AKAP11, CSNK2B, DNAJA2, EIF3G, DHX15, MRPS26, HNRNPA0, DOCK4, PRKCI, VASP, COPE, SAMM50, TEX15, PSME3, PPM1G, COPG1, CALU, S100A11, HSPA4, PSMD12, POLR2E, TRIM28, SLAIN2, RPL10, GOLGA2, GOLGA3, PRKCA, IPO9, PARK7, SPIN1, PPA1, BANP, DSTN, GNAI2, HOXA7, ABCC1, RELA, ACY1, TARDBP, PARK2, KPNA1, ARMCX3, LIMCH1, OSBP, TRMT61A, RPA1, RPA2, RPA3, ERG, LGR4, STAU1, ELF4, AURKA, HUWE1, FUS, COX8A, NPM2, MOV10, NXF1, PHF6, CUL7, OBSL1, CCDC8, SIRT6, EBNA1BP2, NOL12, RPL10A, POP4, ZNF22, NSA2, TAF1D, NIFK, RPL26L1, NIP7, RPL4, RPF1, CCDC137, KNOP1, RBM28, RPL7A, POP1, DDX24, FTSJ3, RRS1, RPL3, ZFP62, ZNF512, DDX56, DDX27, GLYR1, MAK16, CEBPZ, RSL1D1, HP1BP3, REXO4, DDX31, MYBBP1A, NOP16, C3orf17, RRP8, GNL2, PAPD5, RSL24D1, SURF6, GTPBP4, KIAA0020, NOP2, NVL, GLTSCR2, URB1, RPL23A, GPATCH4, TEX10, RPS8, NOC3L, BRIX1, DDX54, PWP1, RBM34, NMNAT1, CENPC, SENP5, RPL36AL, PAK1IP1, ZNF800, RPL7L1, RPL37A, RPF2, PELP1, NOC2L, RPP40, RBMX2, CENPV, PPAN-P2RY11, SDAD1, RPP38, RPP25, SPTY2D1, RPP25L, POP7, RPS6KB2, UTP15, NTRK1, EWSR1, CLK1, HIST1H3E, BYSL, CHD1, DDX1, DECR1, EIF1AX, EIF4G2, FBL, FAU, HIST1H1D, HIST1H1B, RPSA, MKI67, MPG, EXOSC10, RPL7, RPL8, RPL9, RPL11, RPL13, RPL15, RPL17, RPL18, RPL18A, RPL19, RPL21, RPL22, RPL27, RPL27A, RPL29, RPL32, RPL37, RPL38, RPS2, RPS3, RPS3A, RPS9, RPS10, RPS11, RPS13, RPS14, RPS15, RPS16, RPS17, RPS18, RPS19, RPS20, RPS21, RPS23, RPS24, RPS25, RPS27, RPS29, SKIV2L, SRP72, XPC, IFRD2, HIST1H2BC, SMARCA5, CGGBP1, EIF3A, EIF3C, PABPC4, USP10, TTC37, JADE3, ABCF2, G3BP1, GNB2L1, EMG1, IGF2BP3, PSIP1, SUPT16H, RPL35, PDCD11, LARP4B, RRP12, LARP1, RPL13A, RPL36, MTHFD1L, AHCTF1, FAM98A, SERBP1, GNL3, SND1, NOB1, RPS27L, DDX47, EIF3L, RTCB, TRMT112, DHX29, MTPAP, NAT10, TSR1, NKRF, MEPCE, BCCIP, PNO1, MRPS22, WDR18, SCAF1, NOL6, DDX50, CCDC86, MUS81, ZNF622, DHX57, H2AFV, LARP4, WBSCR22, GAN, HEMGN, TMUB1, CRY1, DNAJB4, MCM2, GLI1, SP1, U2AF2, RC3H1, EIF2S2, EGFR, WWP2, CD24, ZNF746, DDX51, CYLD, INO80B, LMNA, YAP1, MTF1, BRD1, HDAC6


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 BSPRY_NPM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNPM1P06748DB11638ArtenimolNucleophosminsmall moleculeapproved|investigational

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RelatedDiseases for BSPRY_NPM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNPM1C0023467Leukemia, Myelocytic, Acute3CTD_human
TgeneNPM1C0023487Acute Promyelocytic Leukemia2CTD_human;ORPHANET
TgeneNPM1C0038356Stomach Neoplasms1CTD_human