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Center for Computational Systems Medicine level1
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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-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RGS20-MCPH1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RGS20-MCPH1
FusionPDB ID: 73815
FusionGDB2.0 ID: 73815
HgeneTgene
Gene symbol

RGS20

MCPH1

Gene ID

8601

79648

Gene nameregulator of G protein signaling 20microcephalin 1
SynonymsRGSZ1|ZGAP1|g(z)GAP|gz-GAPBRIT1|MCT
Cytomap

8q11.23

8p23.1

Type of geneprotein-codingprotein-coding
Descriptionregulator of G-protein signaling 20gz-selective GTPase-activating proteinregulator of G-protein signaling 20 variant 2regulator of G-protein signaling Z1regulator of G-protein signalling 20regulator of Gz-selective protein signaling 1microcephalinBRCT-repeat inhibitor of TERT expression 1truncated microcephalin
Modification date2020032720200328
UniProtAcc.

Q8NEM0

Ensembl transtripts involved in fusion geneENST idsENST00000276500, ENST00000297313, 
ENST00000522225, ENST00000344277, 
ENST00000517405, 
ENST00000519480, 
ENST00000521175, ENST00000522905, 
ENST00000344683, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 5 X 2=408 X 11 X 4=352
# samples 49
** MAII scorelog2(4/40*10)=0log2(9/352*10)=-1.96757852230762
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RGS20 [Title/Abstract] AND MCPH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RGS20(54793644)-MCPH1(6335115), # samples:3
Anticipated loss of major functional domain due to fusion event.RGS20-MCPH1 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.
RGS20-MCPH1 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.
RGS20-MCPH1 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.
RGS20-MCPH1 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.
RGS20-MCPH1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
RGS20-MCPH1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
RGS20-MCPH1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneMCPH1

GO:0000122

negative regulation of transcription by RNA polymerase II

12837246

TgeneMCPH1

GO:0071850

mitotic cell cycle arrest

24633962


check buttonFusion gene breakpoints across RGS20 (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 MCPH1 (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
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54792162

+MCPH1chr8

6335115

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

-MCPH1chr8

6335115

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6335115

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6338235

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6357373

+


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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)
ENST00000276500RGS20chr854793644+ENST00000344683MCPH1chr86335115+1338191122763213
ENST00000297313RGS20chr854792162+ENST00000344683MCPH1chr86335115+1749602921174360
ENST00000276500RGS20chr854793644+ENST00000344683MCPH1chr86357373+1137191122562146

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
ENST00000276500ENST00000344683RGS20chr854793644+MCPH1chr86335115+0.18277210.8172279
ENST00000297313ENST00000344683RGS20chr854792162+MCPH1chr86335115+0.243265910.75673413
ENST00000276500ENST00000344683RGS20chr854793644+MCPH1chr86357373+0.50106690.49893305

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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

>73815_73815_1_RGS20-MCPH1_RGS20_chr8_54792162_ENST00000297313_MCPH1_chr8_6335115_ENST00000344683_length(amino acids)=360AA_BP=170
MPQLSQDNQECLQKHFSRPSIWTQFLPLFRAQRYNTDIHQITENEGDLRAVPDIKSFPPAQLPDSPAAPKLFGLLSSPLSSLARFFSHLL
RRPPPEAPRRRLDFSPLLPALPAARLSRGHEELPGRLSLLLGAALALPGRPSGGRPLRPPHPVAKPREEDATAGQSSPMPPTRTLVMTSM
PSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPLCRSECH
LSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ

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

>73815_73815_2_RGS20-MCPH1_RGS20_chr8_54793644_ENST00000276500_MCPH1_chr8_6335115_ENST00000344683_length(amino acids)=213AA_BP=23
MRTADGGEPAGASSPAGRVDGGLPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDW
VLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSG

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

>73815_73815_3_RGS20-MCPH1_RGS20_chr8_54793644_ENST00000276500_MCPH1_chr8_6357373_ENST00000344683_length(amino acids)=146AA_BP=23
MRTADGGEPAGASSPAGRVDGGLVLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELV

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

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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/chr8:54793644/chr8:6335115)
- 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
.MCPH1

Q8NEM0

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:15220350}.

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
TgeneMCPH1chr8:54792162chr8:6335115ENST00000519480081_930611.0DomainBRCT 1
TgeneMCPH1chr8:54792162chr8:6335115ENST0000051948008640_7300611.0DomainBRCT 2
TgeneMCPH1chr8:54792162chr8:6335115ENST0000051948008751_8330611.0DomainBRCT 3
TgeneMCPH1chr8:54792162chr8:6335115ENST00000522905071_930563.0DomainBRCT 1
TgeneMCPH1chr8:54792162chr8:6335115ENST0000052290507640_7300563.0DomainBRCT 2
TgeneMCPH1chr8:54792162chr8:6335115ENST0000052290507751_8330563.0DomainBRCT 3
TgeneMCPH1chr8:54793644chr8:6335115ENST00000519480081_930611.0DomainBRCT 1
TgeneMCPH1chr8:54793644chr8:6335115ENST0000051948008640_7300611.0DomainBRCT 2
TgeneMCPH1chr8:54793644chr8:6335115ENST0000051948008751_8330611.0DomainBRCT 3
TgeneMCPH1chr8:54793644chr8:6335115ENST00000522905071_930563.0DomainBRCT 1
TgeneMCPH1chr8:54793644chr8:6335115ENST0000052290507640_7300563.0DomainBRCT 2
TgeneMCPH1chr8:54793644chr8:6335115ENST0000052290507751_8330563.0DomainBRCT 3
TgeneMCPH1chr8:54793644chr8:6357373ENST00000519480081_930611.0DomainBRCT 1
TgeneMCPH1chr8:54793644chr8:6357373ENST0000051948008640_7300611.0DomainBRCT 2
TgeneMCPH1chr8:54793644chr8:6357373ENST0000051948008751_8330611.0DomainBRCT 3
TgeneMCPH1chr8:54793644chr8:6357373ENST00000522905071_930563.0DomainBRCT 1
TgeneMCPH1chr8:54793644chr8:6357373ENST0000052290507640_7300563.0DomainBRCT 2
TgeneMCPH1chr8:54793644chr8:6357373ENST0000052290507751_8330563.0DomainBRCT 3

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRGS20chr8:54792162chr8:6335115ENST00000276500+15208_2200242.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54792162chr8:6335115ENST00000297313+26208_220170.0389.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54792162chr8:6335115ENST00000344277+15208_2200.0274.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54793644chr8:6335115ENST00000276500+15208_22023.0242.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54793644chr8:6335115ENST00000297313+16208_2200389.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54793644chr8:6335115ENST00000344277+15208_2200.0274.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54793644chr8:6357373ENST00000276500+15208_22023.0242.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54793644chr8:6357373ENST00000297313+16208_2200389.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54793644chr8:6357373ENST00000344277+15208_2200.0274.0Compositional biasNote=Poly-Cys
HgeneRGS20chr8:54792162chr8:6335115ENST00000276500+15262_3780242.0DomainRGS
HgeneRGS20chr8:54792162chr8:6335115ENST00000297313+26262_378170.0389.0DomainRGS
HgeneRGS20chr8:54792162chr8:6335115ENST00000344277+15262_3780.0274.0DomainRGS
HgeneRGS20chr8:54793644chr8:6335115ENST00000276500+15262_37823.0242.0DomainRGS
HgeneRGS20chr8:54793644chr8:6335115ENST00000297313+16262_3780389.0DomainRGS
HgeneRGS20chr8:54793644chr8:6335115ENST00000344277+15262_3780.0274.0DomainRGS
HgeneRGS20chr8:54793644chr8:6357373ENST00000276500+15262_37823.0242.0DomainRGS
HgeneRGS20chr8:54793644chr8:6357373ENST00000297313+16262_3780389.0DomainRGS
HgeneRGS20chr8:54793644chr8:6357373ENST00000344277+15262_3780.0274.0DomainRGS


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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
RGS20
MCPH1


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


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Related Drugs to RGS20-MCPH1


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 RGS20-MCPH1


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