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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: 24670

FusionGeneSummary for NPAS3_RB1

check button Fusion gene summary
Fusion gene informationFusion gene name: NPAS3_RB1
Fusion gene ID: 24670
HgeneTgene
Gene symbol

NPAS3

RB1

Gene ID

64067

5925

Gene nameneuronal PAS domain protein 3RB transcriptional corepressor 1
SynonymsMOP6|PASD6|bHLHe12OSRC|PPP1R130|RB|p105-Rb|pRb|pp110
Cytomap

14q13.1

13q14.2

Type of geneprotein-codingprotein-coding
Descriptionneuronal PAS domain-containing protein 3PAS domain-containing protein 6basic-helix-loop-helix-PAS protein MOP6class E basic helix-loop-helix protein 12member of PAS protein 6neuronal PAS3retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas
Modification date2018052320180523
UniProtAcc

Q8IXF0

P06400

Ensembl transtripts involved in fusion geneENST00000551492, ENST00000346562, 
ENST00000341321, ENST00000548645, 
ENST00000356141, ENST00000357798, 
ENST00000547068, ENST00000551008, 
ENST00000550662, 
ENST00000267163, 
ENST00000484879, 
Fusion gene scores* DoF score4 X 5 X 3=607 X 5 X 5=175
# samples 68
** MAII scorelog2(6/60*10)=0log2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPAS3 [Title/Abstract] AND RB1 [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
TgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

TgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

TgeneRB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

25100735


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
TCGALDOVTCGA-25-1632-01ANPAS3chr14

33404209

+RB1chr13

49039134

+
* 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
Frame-shiftENST00000551492ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
5CDS-intronENST00000551492ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000346562ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000346562ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000341321ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000341321ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000548645ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000548645ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000356141ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000356141ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000357798ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000357798ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000547068ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000547068ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000551008ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000551008ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-3CDSENST00000550662ENST00000267163NPAS3chr14

33404209

+RB1chr13

49039134

+
intron-intronENST00000550662ENST00000484879NPAS3chr14

33404209

+RB1chr13

49039134

+

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FusionProtFeatures for NPAS3_RB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPAS3

Q8IXF0

RB1

P06400

May play a broad role in neurogenesis. May controlregulatory pathways relevant to schizophrenia and to psychoticillness (By similarity). {ECO:0000250}. Key regulator of entry into cell division that acts as atumor suppressor. Promotes G0-G1 transition when phosphorylated byCDK3/cyclin-C. Acts as a transcription repressor of E2F1 targetgenes. The underphosphorylated, active form of RB1 interacts withE2F1 and represses its transcription activity, leading to cellcycle arrest. Directly involved in heterochromatin formation bymaintaining overall chromatin structure and, in particular, thatof constitutive heterochromatin by stabilizing histonemethylation. Recruits and targets histone methyltransferasesSUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptionalrepression. Controls histone H4 'Lys-20' trimethylation. Inhibitsthe intrinsic kinase activity of TAF1. Mediates transcriptionalrepression by SMARCA4/BRG1 by recruiting a histone deacetylase(HDAC) complex to the c-FOS promoter. In resting neurons,transcription of the c-FOS promoter is inhibited by BRG1-dependentrecruitment of a phospho-RB1-HDAC1 repressor complex. Upon calciuminflux, RB1 is dephosphorylated by calcineurin, which leads torelease of the repressor complex (By similarity). In case of viralinfections, interactions with SV40 large T antigen, HPV E7 proteinor adenovirus E1A protein induce the disassembly of RB1-E2F1complex thereby disrupting RB1's activity. {ECO:0000250,ECO:0000269|PubMed:15084261}.

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 NPAS3_RB1


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 NPAS3_RB1


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
NPAS3ARNT2, TP53RB1CUX1, MCM7, HBP1, TRAP1, AATF, THOC1, LIN9, BRCA1, ABL1, BCR, NCOA6, BAG1, RBBP8, HDAC1, AR, MORF4L2, SERPINB2, TP73, GNB2L1, CBX1, PELP1, PIK3R3, PPARG, HDAC3, RBBP4, E2F1, MORF4L1, MRFAP1, RBBP7, CDK2, DNMT1, HDAC2, ARID4A, NFIX, SP1, SMARCA4, MYOD1, DNMT3A, EID1, BRF1, PRDM2, SUV39H1, CBX5, CBX4, RING1, VDR, KDM5A, CCND3, PML, CCND1, TAF1, PA2G4, TMPO, MYC, TGM2, POLA1, FRK, ATF2, SNW1, ARID3B, SNAPC1, SNAPC3, CCNT2, CDK9, RAF1, E2F4, E4F1, ENC1, RFC1, LMNA, CREG1, CEBPB, HMGB1, PHB, MDM2, JUN, PAX6, MNAT1, RBBP5, E2F2, TRIP11, UBTF, AHR, ARNT, CCNA1, TFDP1, TFDP2, RBBP9, TBP, USP4, L3MBTL1, L3MBTL2, AURKB, CDK4, ZBTB7A, SKP2, HMGA2, KDM5B, KDM4A, STAT3, KDM1A, LIN54, SKI, SKIL, KAT2B, FOXM1, YY1, DNAJA2, SMYD2, UHRF2, TAL1, TCF3, LMO2, LDB1, IRF3, NPM1, CEBPA, KAT5, TRIM27, CCNE1, CDK5, CCND2, PSMA7, CCNA2, CDK1, PSMD10, CDC27, ANAPC2, CDC16, FZR1, MAPK14, TP53, PPP1CA, CDK6, RNF40, UHRF1, UBR4, RBAK, SPI1, E2F3, CHEK2, CHEK1, CEBPD, MDM4, PAX2, PNO1, GTF2H1, PURA, CCNB1, RINT1, FOS, CDK14, PPIA, TOP2A, NOTCH1, RUNX2, ID2, CDK3, DGKZ, INS, HIST4H4, PRMT2, CASP3, CASP6, CASP7, CASP8, CASP9, CASP10, MAPK8, UBE2I, CEBPE, MRPS18B, CCNC, PRKCB, TFAP2A, PAX5, HIF1A, CDKN1A, CDKN1C, HDAC11, PLA2G12A, MAGEA11, NEFM, DYRK1A, DYRK1B, USP7, KDM2A, EP300, SIRT1, PAX8, KLK11, RFPL2, FAS, TFDP3, CTBP1, C3orf62, CDK13, NTRK1, RBBP6, GTF3C2, GRB2, RABGAP1L, CHN2, ANKS1A, CLNK, MED23, BAG6, UBL4A, HERC4, RPRD1B, RBM26, FOXA3, FOXK1, FOXK2, FOXO1, FOXO3, PPP1R26, NFATC2, BRD4, FAM208A, RFC5, PPAN, KIAA0430, HELZ, PCGF3, HSP90AA1, WEE1, TUBA1A


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 NPAS3_RB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRB1P06400DB00071Insulin PorkRetinoblastoma-associated proteinbiotechapproved
TgeneRB1P06400DB00030Insulin HumanRetinoblastoma-associated proteinbiotechapproved|investigational

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RelatedDiseases for NPAS3_RB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPAS3C0036341Schizophrenia4PSYGENET
HgeneNPAS3C0005586Bipolar Disorder3PSYGENET
HgeneNPAS3C0033975Psychotic Disorders1PSYGENET
HgeneNPAS3C0041696Unipolar Depression1PSYGENET
HgeneNPAS3C0349204Nonorganic psychosis1PSYGENET
HgeneNPAS3C1269683Major Depressive Disorder1PSYGENET
TgeneRB1C0035335Retinoblastoma9CTD_human;HPO;UNIPROT
TgeneRB1C1458155Mammary Neoplasms3CTD_human
TgeneRB1C0149925Small cell carcinoma of lung2CTD_human;ORPHANET
TgeneRB1C2239176Liver carcinoma2CTD_human
TgeneRB1C0001624Adrenal Gland Neoplasms1CTD_human
TgeneRB1C0007117Basal cell carcinoma1CTD_human
TgeneRB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneRB1C0007786Brain Ischemia1CTD_human
TgeneRB1C0023904Liver Neoplasms, Experimental1CTD_human
TgeneRB1C0024667Animal Mammary Neoplasms1CTD_human
TgeneRB1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneRB1C0027627Neoplasm Metastasis1CTD_human
TgeneRB1C0027659Neoplasms, Experimental1CTD_human
TgeneRB1C0029463Osteosarcoma1CTD_human;HPO
TgeneRB1C0030297Pancreatic Neoplasm1CTD_human
TgeneRB1C0036920Sezary Syndrome1CTD_human
TgeneRB1C0038325Stevens-Johnson Syndrome1CTD_human
TgeneRB1C0206686Adrenocortical carcinoma1CTD_human
TgeneRB1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneRB1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human