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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: 30610

FusionGeneSummary for RB1_FRYL

check button Fusion gene summary
Fusion gene informationFusion gene name: RB1_FRYL
Fusion gene ID: 30610
HgeneTgene
Gene symbol

RB1

FRYL

Gene ID

5925

285527

Gene nameRB transcriptional corepressor 1FRY like transcription coactivator
SynonymsOSRC|PPP1R130|RB|p105-Rb|pRb|pp110AF4p12|KIAA0826|MOR2
Cytomap

13q14.2

4p11

Type of geneprotein-codingprotein-coding
Descriptionretinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblasprotein furry homolog-likeALL1-fused gene from chromosome 4p12 proteinFRY-likefurry homolog-likefurry-likemor2 cell polarity protein homolog
Modification date2018052320180523
UniProtAcc

P06400

O94915

Ensembl transtripts involved in fusion geneENST00000267163, ENST00000484879, 
ENST00000503238, ENST00000358350, 
ENST00000537810, ENST00000264319, 
ENST00000507711, ENST00000514783, 
ENST00000507873, ENST00000506685, 
Fusion gene scores* DoF score16 X 9 X 8=11525 X 6 X 2=60
# samples 169
** MAII scorelog2(16/1152*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/60*10)=0.584962500721156
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RB1 [Title/Abstract] AND FRYL [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
HgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

HgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

HgeneRB1

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
TCGARVSARCTCGA-IF-A4AK-01ARB1chr13

49039504

+FRYLchr4

48636507

-
* 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-intronENST00000267163ENST00000503238RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-5UTRENST00000267163ENST00000358350RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-5UTRENST00000267163ENST00000537810RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-5UTRENST00000267163ENST00000264319RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-5UTRENST00000267163ENST00000507711RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-intronENST00000267163ENST00000514783RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-intronENST00000267163ENST00000507873RB1chr13

49039504

+FRYLchr4

48636507

-
5CDS-intronENST00000267163ENST00000506685RB1chr13

49039504

+FRYLchr4

48636507

-
intron-intronENST00000484879ENST00000503238RB1chr13

49039504

+FRYLchr4

48636507

-
intron-5UTRENST00000484879ENST00000358350RB1chr13

49039504

+FRYLchr4

48636507

-
intron-5UTRENST00000484879ENST00000537810RB1chr13

49039504

+FRYLchr4

48636507

-
intron-5UTRENST00000484879ENST00000264319RB1chr13

49039504

+FRYLchr4

48636507

-
intron-5UTRENST00000484879ENST00000507711RB1chr13

49039504

+FRYLchr4

48636507

-
intron-intronENST00000484879ENST00000514783RB1chr13

49039504

+FRYLchr4

48636507

-
intron-intronENST00000484879ENST00000507873RB1chr13

49039504

+FRYLchr4

48636507

-
intron-intronENST00000484879ENST00000506685RB1chr13

49039504

+FRYLchr4

48636507

-

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FusionProtFeatures for RB1_FRYL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RB1

P06400

FRYL

O94915

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}. Plays a key role in maintaining the integrity ofpolarized cell extensions during morphogenesis, regulates theactin cytoskeleton and plays a key role in patterning sensoryneuron dendritic fields by promoting avoidance between homologousdendrites as well as by limiting dendritic branching (Bysimilarity). May function as a transcriptional activator.{ECO:0000250, ECO:0000269|PubMed:16061630}.

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 RB1_FRYL


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 RB1_FRYL


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
RB1CUX1, 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, TUBA1AFRYLHOMER3, YWHAG, BAK1, YWHAB, DISC1, SIRT7, GRK5, NOTCH1, MMS19, PELI2, SLMAP, ABCF1, KIAA0930, MARK2, POLH, YWHAH, TACC3, PDZK1, FRY, HOMER1, FLNC, RNF138, FAM78B


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 RB1_FRYL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneRB1P06400DB00071Insulin PorkRetinoblastoma-associated proteinbiotechapproved
HgeneRB1P06400DB00030Insulin HumanRetinoblastoma-associated proteinbiotechapproved|investigational

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RelatedDiseases for RB1_FRYL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRB1C0035335Retinoblastoma9CTD_human;HPO;UNIPROT
HgeneRB1C1458155Mammary Neoplasms3CTD_human
HgeneRB1C0149925Small cell carcinoma of lung2CTD_human;ORPHANET
HgeneRB1C2239176Liver carcinoma2CTD_human
HgeneRB1C0001624Adrenal Gland Neoplasms1CTD_human
HgeneRB1C0007117Basal cell carcinoma1CTD_human
HgeneRB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneRB1C0007786Brain Ischemia1CTD_human
HgeneRB1C0023904Liver Neoplasms, Experimental1CTD_human
HgeneRB1C0024667Animal Mammary Neoplasms1CTD_human
HgeneRB1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneRB1C0027627Neoplasm Metastasis1CTD_human
HgeneRB1C0027659Neoplasms, Experimental1CTD_human
HgeneRB1C0029463Osteosarcoma1CTD_human;HPO
HgeneRB1C0030297Pancreatic Neoplasm1CTD_human
HgeneRB1C0036920Sezary Syndrome1CTD_human
HgeneRB1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneRB1C0206686Adrenocortical carcinoma1CTD_human
HgeneRB1C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneRB1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human