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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RB1-HTR2C

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RB1-HTR2C
FusionPDB ID: 72563
FusionGDB2.0 ID: 72563
HgeneTgene
Gene symbol

RB1

HTR2C

Gene ID

5925

3358

Gene nameRB transcriptional corepressor 15-hydroxytryptamine receptor 2C
SynonymsOSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp1105-HT1C|5-HT2C|5-HTR2C|5HTR2C|HTR1C
Cytomap

13q14.2

Xq23

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 130retinoblas5-hydroxytryptamine receptor 2C5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled5-hydroxytryptamine receptor 1Cserotonin 5-HT-1C receptorserotonin 5-HT-2C receptor
Modification date2020032920200313
UniProtAcc

RB1CC1

P28335

Ensembl transtripts involved in fusion geneENST idsENST00000267163, ENST00000484879, 
ENST00000371950, ENST00000276198, 
ENST00000371951, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 9 X 13=26913 X 4 X 2=24
# samples 274
** MAII scorelog2(27/2691*10)=-3.31711107858959
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RB1 [Title/Abstract] AND HTR2C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RB1(48881542)-HTR2C(114141152), # samples:3
Anticipated loss of major functional domain due to fusion event.RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
RB1-HTR2C seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
RB1-HTR2C seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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

TgeneHTR2C

GO:0006874

cellular calcium ion homeostasis

19057895

TgeneHTR2C

GO:0007200

phospholipase C-activating G protein-coupled receptor signaling pathway

12970106

TgeneHTR2C

GO:0010513

positive regulation of phosphatidylinositol biosynthetic process

19057895

TgeneHTR2C

GO:0019934

cGMP-mediated signaling

12970106

TgeneHTR2C

GO:0042493

response to drug

18703043

TgeneHTR2C

GO:0070374

positive regulation of ERK1 and ERK2 cascade

19057895


check buttonFusion gene breakpoints across RB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across HTR2C (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-D6-6827-01ARB1chr13

48881542

-HTR2CchrX

114141152

+
ChimerDB4HNSCTCGA-D6-6827-01ARB1chr13

48881542

+HTR2CchrX

114141152

+
ChimerDB4HNSCTCGA-D6-6827RB1chr13

48881542

+HTR2CchrX

114141151

+
ChimerDB4HNSCTCGA-D6-6827RB1chr13

48881542

+HTR2CchrX

114141152

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000267163RB1chr1348881542+ENST00000371951HTR2CchrX114141152+23214023171228303
ENST00000267163RB1chr1348881542+ENST00000276198HTR2CchrX114141152+38754023171228303
ENST00000267163RB1chr1348881542+ENST00000371951HTR2CchrX114141151+23214023171228303
ENST00000267163RB1chr1348881542+ENST00000276198HTR2CchrX114141151+38754023171228303

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000267163ENST00000371951RB1chr1348881542+HTR2CchrX114141152+0.0005446550.9994554
ENST00000267163ENST00000276198RB1chr1348881542+HTR2CchrX114141152+0.0003281170.99967194
ENST00000267163ENST00000371951RB1chr1348881542+HTR2CchrX114141151+0.0005446550.9994554
ENST00000267163ENST00000276198RB1chr1348881542+HTR2CchrX114141151+0.0003281170.99967194

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>72563_72563_1_RB1-HTR2C_RB1_chr13_48881542_ENST00000267163_HTR2C_chrX_114141151_ENST00000276198_length(amino acids)=303AA_BP=28
MSEIKDTRSCQRESLVNLGESFICGWSIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYVLRRQA
LMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVFLIMWCPFFITNILSV
LCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTNEPVIE

--------------------------------------------------------------

>72563_72563_2_RB1-HTR2C_RB1_chr13_48881542_ENST00000267163_HTR2C_chrX_114141151_ENST00000371951_length(amino acids)=303AA_BP=28
MSEIKDTRSCQRESLVNLGESFICGWSIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYVLRRQA
LMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVFLIMWCPFFITNILSV
LCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTNEPVIE

--------------------------------------------------------------

>72563_72563_3_RB1-HTR2C_RB1_chr13_48881542_ENST00000267163_HTR2C_chrX_114141152_ENST00000276198_length(amino acids)=303AA_BP=28
MSEIKDTRSCQRESLVNLGESFICGWSIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYVLRRQA
LMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVFLIMWCPFFITNILSV
LCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTNEPVIE

--------------------------------------------------------------

>72563_72563_4_RB1-HTR2C_RB1_chr13_48881542_ENST00000267163_HTR2C_chrX_114141152_ENST00000371951_length(amino acids)=303AA_BP=28
MSEIKDTRSCQRESLVNLGESFICGWSIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYVLRRQA
LMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVFLIMWCPFFITNILSV
LCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTNEPVIE

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:48881542/chrX:114141152)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

RB1CC1

HTR2C

P28335

1594FUNCTION: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,-dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores. Regulates neuronal activity via the activation of short transient receptor potential calcium channels in the brain, and thereby modulates the activation of pro-opiomelacortin neurons and the release of CRH that then regulates the release of corticosterone. Plays a role in the regulation of appetite and eating behavior, responses to anxiogenic stimuli and stress. Plays a role in insulin sensitivity and glucose homeostasis. {ECO:0000269|PubMed:12970106, ECO:0000269|PubMed:18703043, ECO:0000269|PubMed:19057895, ECO:0000269|PubMed:7895773}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+22710_1888.0929.0Compositional biasNote=Poly-Ala
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+22720_2988.0929.0Compositional biasNote=Poly-Pro
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+22710_1888.0929.0Compositional biasNote=Poly-Ala
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+22720_2988.0929.0Compositional biasNote=Poly-Pro
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846364_368183.33333333333334459.0MotifNPxxY motif%3B important for ligand-induced conformation changes and signaling
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846456_458183.33333333333334459.0MotifNote=PDZ-binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046151_153151.66666666666666249.0MotifDRY motif%3B important for ligand-induced conformation changes
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046364_368151.66666666666666249.0MotifNPxxY motif%3B important for ligand-induced conformation changes and signaling
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046456_458151.66666666666666249.0MotifNote=PDZ-binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157364_368183.33333333333334459.0MotifNPxxY motif%3B important for ligand-induced conformation changes and signaling
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157456_458183.33333333333334459.0MotifNote=PDZ-binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846364_368183.33333333333334459.0MotifNPxxY motif%3B important for ligand-induced conformation changes and signaling
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846456_458183.33333333333334459.0MotifNote=PDZ-binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046151_153151.66666666666666249.0MotifDRY motif%3B important for ligand-induced conformation changes
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046364_368151.66666666666666249.0MotifNPxxY motif%3B important for ligand-induced conformation changes and signaling
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046456_458151.66666666666666249.0MotifNote=PDZ-binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157364_368183.33333333333334459.0MotifNPxxY motif%3B important for ligand-induced conformation changes and signaling
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157456_458183.33333333333334459.0MotifNote=PDZ-binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846324_328183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046324_328151.66666666666666249.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157324_328183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846324_328183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046324_328151.66666666666666249.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157324_328183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846194_213183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846236_311183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846334_348183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846372_458183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046151_170151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046194_213151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046236_311151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046334_348151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046372_458151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157194_213183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157236_311183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157334_348183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157372_458183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846194_213183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846236_311183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846334_348183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846372_458183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046151_170151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046194_213151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046236_311151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046334_348151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046372_458151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157194_213183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157236_311183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157334_348183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157372_458183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846214_235183.33333333333334459.0TransmembraneHelical%3B Name%3D5
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846312_333183.33333333333334459.0TransmembraneHelical%3B Name%3D6
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846349_371183.33333333333334459.0TransmembraneHelical%3B Name%3D7
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046171_193151.66666666666666249.0TransmembraneHelical%3B Name%3D4
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046214_235151.66666666666666249.0TransmembraneHelical%3B Name%3D5
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046312_333151.66666666666666249.0TransmembraneHelical%3B Name%3D6
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046349_371151.66666666666666249.0TransmembraneHelical%3B Name%3D7
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157214_235183.33333333333334459.0TransmembraneHelical%3B Name%3D5
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157312_333183.33333333333334459.0TransmembraneHelical%3B Name%3D6
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157349_371183.33333333333334459.0TransmembraneHelical%3B Name%3D7
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846214_235183.33333333333334459.0TransmembraneHelical%3B Name%3D5
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846312_333183.33333333333334459.0TransmembraneHelical%3B Name%3D6
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846349_371183.33333333333334459.0TransmembraneHelical%3B Name%3D7
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046171_193151.66666666666666249.0TransmembraneHelical%3B Name%3D4
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046214_235151.66666666666666249.0TransmembraneHelical%3B Name%3D5
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046312_333151.66666666666666249.0TransmembraneHelical%3B Name%3D6
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046349_371151.66666666666666249.0TransmembraneHelical%3B Name%3D7
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157214_235183.33333333333334459.0TransmembraneHelical%3B Name%3D5
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157312_333183.33333333333334459.0TransmembraneHelical%3B Name%3D6
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157349_371183.33333333333334459.0TransmembraneHelical%3B Name%3D7

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+227860_87688.0929.0MotifBipartite nuclear localization signal
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+227860_87688.0929.0MotifBipartite nuclear localization signal
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+227373_57988.0929.0RegionNote=Domain A
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+227373_77188.0929.0RegionNote=Pocket%3B binds T and E1A
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+227580_63988.0929.0RegionNote=Spacer
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+227640_77188.0929.0RegionNote=Domain B
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+227373_57988.0929.0RegionNote=Domain A
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+227373_77188.0929.0RegionNote=Pocket%3B binds T and E1A
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+227580_63988.0929.0RegionNote=Spacer
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+227640_77188.0929.0RegionNote=Domain B
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846151_153183.33333333333334459.0MotifDRY motif%3B important for ligand-induced conformation changes
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157151_153183.33333333333334459.0MotifDRY motif%3B important for ligand-induced conformation changes
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846151_153183.33333333333334459.0MotifDRY motif%3B important for ligand-induced conformation changes
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157151_153183.33333333333334459.0MotifDRY motif%3B important for ligand-induced conformation changes
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846134_139183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046134_139151.66666666666666249.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157134_139183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846134_139183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046134_139151.66666666666666249.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157134_139183.33333333333334459.0RegionAgonist binding
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846111_127183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846151_170183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST000002761984633_52183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST000002761984679_89183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046111_127151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719504633_52151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719504679_89151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157111_127183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157151_170183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719515733_52183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719515779_89183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846111_127183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846151_170183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST000002761984633_52183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST000002761984679_89183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046111_127151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719504633_52151.66666666666666249.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719504679_89151.66666666666666249.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157111_127183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157151_170183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719515733_52183.33333333333334459.0Topological domainExtracellular
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719515779_89183.33333333333334459.0Topological domainCytoplasmic
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846128_150183.33333333333334459.0TransmembraneHelical%3B Name%3D3
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000027619846171_193183.33333333333334459.0TransmembraneHelical%3B Name%3D4
TgeneHTR2Cchr13:48881542chrX:114141151ENST000002761984653_78183.33333333333334459.0TransmembraneHelical%3B Name%3D1
TgeneHTR2Cchr13:48881542chrX:114141151ENST000002761984690_110183.33333333333334459.0TransmembraneHelical%3B Name%3D2
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195046128_150151.66666666666666249.0TransmembraneHelical%3B Name%3D3
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719504653_78151.66666666666666249.0TransmembraneHelical%3B Name%3D1
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719504690_110151.66666666666666249.0TransmembraneHelical%3B Name%3D2
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157128_150183.33333333333334459.0TransmembraneHelical%3B Name%3D3
TgeneHTR2Cchr13:48881542chrX:114141151ENST0000037195157171_193183.33333333333334459.0TransmembraneHelical%3B Name%3D4
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719515753_78183.33333333333334459.0TransmembraneHelical%3B Name%3D1
TgeneHTR2Cchr13:48881542chrX:114141151ENST000003719515790_110183.33333333333334459.0TransmembraneHelical%3B Name%3D2
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846128_150183.33333333333334459.0TransmembraneHelical%3B Name%3D3
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000027619846171_193183.33333333333334459.0TransmembraneHelical%3B Name%3D4
TgeneHTR2Cchr13:48881542chrX:114141152ENST000002761984653_78183.33333333333334459.0TransmembraneHelical%3B Name%3D1
TgeneHTR2Cchr13:48881542chrX:114141152ENST000002761984690_110183.33333333333334459.0TransmembraneHelical%3B Name%3D2
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195046128_150151.66666666666666249.0TransmembraneHelical%3B Name%3D3
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719504653_78151.66666666666666249.0TransmembraneHelical%3B Name%3D1
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719504690_110151.66666666666666249.0TransmembraneHelical%3B Name%3D2
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157128_150183.33333333333334459.0TransmembraneHelical%3B Name%3D3
TgeneHTR2Cchr13:48881542chrX:114141152ENST0000037195157171_193183.33333333333334459.0TransmembraneHelical%3B Name%3D4
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719515753_78183.33333333333334459.0TransmembraneHelical%3B Name%3D1
TgeneHTR2Cchr13:48881542chrX:114141152ENST000003719515790_110183.33333333333334459.0TransmembraneHelical%3B Name%3D2


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>545_RB1_48881542_HTR2C_114141152_ranked_0.pdbRB14888154248881542ENST00000276198HTR2CchrX114141152+
MSEIKDTRSCQRESLVNLGESFICGWSIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYVLRRQA
LMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVFLIMWCPFFITNILSV
LCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTNEPVIE
303


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
RB1_pLDDT.png
all structure
all structure
HTR2C_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RB1
HTR2C


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneRB1chr13:48881542chrX:114141151ENST00000267163+227763_92888.0929.0LIMD1
HgeneRB1chr13:48881542chrX:114141152ENST00000267163+227763_92888.0929.0LIMD1


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Related Drugs to RB1-HTR2C


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to RB1-HTR2C


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource