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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:RGS20-MCPH1 (FusionGDB2 ID:73352)

Fusion Gene Summary for RGS20-MCPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: RGS20-MCPH1
Fusion gene ID: 73352
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 geneENST00000297313, ENST00000344277, 
ENST00000522225, ENST00000276500, 
ENST00000517405, 		ENST00000344683, 
ENST00000519480, ENST00000522905, 
ENST00000521175, 
Fusion gene scores* 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

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

Most frequent breakpointRGS20(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 IUPHAR drug target 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.
RGS20-MCPH1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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.

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.

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

54793644

+MCPH1chr8

6335115

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6335115

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54792162

+MCPH1chr8

6335115

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6338235

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6357373

+
ChimerDB4SKCMTCGA-EB-A82B-01ARGS20chr8

54793644

-MCPH1chr8

6335115

+


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Fusion Gene ORF analysis for RGS20-MCPH1

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
intron-3CDSENST00000297313ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000297313ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000297313ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000297313ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-3CDSENST00000344277ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000344277ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000344277ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000344277ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6335115

+
5UTR-3CDSENST00000522225ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6335115

+
5UTR-intronENST00000522225ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6335115

+
5UTR-intronENST00000522225ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6335115

+
5UTR-intronENST00000522225ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6335115

+
In-frameENST00000276500ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6335115

+
5CDS-intronENST00000276500ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6335115

+
5CDS-intronENST00000276500ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6335115

+
5CDS-intronENST00000276500ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-3CDSENST00000517405ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000517405ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000517405ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6335115

+
intron-intronENST00000517405ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6335115

+
In-frameENST00000297313ENST00000344683RGS20chr8

54792162

+MCPH1chr8

6335115

+
5CDS-intronENST00000297313ENST00000519480RGS20chr8

54792162

+MCPH1chr8

6335115

+
5CDS-intronENST00000297313ENST00000522905RGS20chr8

54792162

+MCPH1chr8

6335115

+
5CDS-intronENST00000297313ENST00000521175RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-3CDSENST00000344277ENST00000344683RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000344277ENST00000519480RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000344277ENST00000522905RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000344277ENST00000521175RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-3CDSENST00000522225ENST00000344683RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000522225ENST00000519480RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000522225ENST00000522905RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000522225ENST00000521175RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-3CDSENST00000276500ENST00000344683RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000276500ENST00000519480RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000276500ENST00000522905RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000276500ENST00000521175RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-3CDSENST00000517405ENST00000344683RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000517405ENST00000519480RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000517405ENST00000522905RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-intronENST00000517405ENST00000521175RGS20chr8

54792162

+MCPH1chr8

6335115

+
intron-3CDSENST00000297313ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000297313ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000297313ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000297313ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-3CDSENST00000344277ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000344277ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000344277ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000344277ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6338235

+
5UTR-3CDSENST00000522225ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6338235

+
5UTR-intronENST00000522225ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6338235

+
5UTR-intronENST00000522225ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6338235

+
5UTR-intronENST00000522225ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6338235

+
Frame-shiftENST00000276500ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6338235

+
5CDS-intronENST00000276500ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6338235

+
5CDS-intronENST00000276500ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6338235

+
5CDS-intronENST00000276500ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-3CDSENST00000517405ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000517405ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000517405ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-intronENST00000517405ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6338235

+
intron-3CDSENST00000297313ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000297313ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000297313ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000297313ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-3CDSENST00000344277ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000344277ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000344277ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000344277ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6357373

+
5UTR-3CDSENST00000522225ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6357373

+
5UTR-intronENST00000522225ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6357373

+
5UTR-intronENST00000522225ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6357373

+
5UTR-intronENST00000522225ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6357373

+
In-frameENST00000276500ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6357373

+
5CDS-intronENST00000276500ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6357373

+
5CDS-intronENST00000276500ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6357373

+
5CDS-intronENST00000276500ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-3CDSENST00000517405ENST00000344683RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000517405ENST00000519480RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000517405ENST00000522905RGS20chr8

54793644

+MCPH1chr8

6357373

+
intron-intronENST00000517405ENST00000521175RGS20chr8

54793644

+MCPH1chr8

6357373

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
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 Genomic Features for RGS20-MCPH1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
RGS20chr854792162+MCPH1chr86335114+0.51067590.48932403
RGS20chr854793644+MCPH1chr86335114+0.293745960.70625407
RGS20chr854793644+MCPH1chr86357372+0.022260190.9777399
RGS20chr854793644+MCPH1chr86338234+0.0001461730.99985385
RGS20chr854792162+MCPH1chr86335114+0.51067590.48932403
RGS20chr854793644+MCPH1chr86335114+0.293745960.70625407
RGS20chr854793644+MCPH1chr86357372+0.022260190.9777399
RGS20chr854793644+MCPH1chr86338234+0.0001461730.99985385

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RGS20-MCPH1


check button Go to

FGviewer for the breakpoints of 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.
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.
- In-frame and 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

- In-frame and 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 Gene Sequence for RGS20-MCPH1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000276500_ENST00000344683_TCGA-EB-A82B-01A_RGS20_chr8_54793644_+_MCPH1_chr8_6335115_length(transcript)=1338nt_BP=191nt
GGGAGAAGAGGGCTAGAGCAAAGACCGAGAGCCGGAGAAAGGCGAAAGGCGCGGTGAGCAATCGCCGACGTAGAGAGGGCAGCCCTCCGC
GCTGCAATATTGAGAAGGCACCCGCGGGACGCATGCGCACGGCGGACGGAGGCGAGCCGGCCGGGGCTTCCTCCCCGGCCGGCAGGGTGG
ACGGTGGGCTCCCAACAAGAACATTAGTCATGACAAGCATGCCATCTGAAAAGCAGAATGTCGTCATCCAGGTTGTGGATAAATTGAAAG
GCTTTTCAATTGCACCAGACGTCTGTGAGACCACGACTCACGTGCTTTCCGGGAAGCCACTTCGCACCCTGAATGTGCTGCTGGGAATTG
CGCGTGGCTGCTGGGTTCTCTCTTATGATTGGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTC
ACCACTTCCCTGCAGCTCCCCTGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGA
TGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCC
AGGCCAGCATCGTCATCGGGCCCTACAGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAGATTCCATCACCC
AGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCACAATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACT
GTCTTTGGATGTTCAAATGAGAAACAAAACTGTGAAGAGAAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTT
GTGGTTCTTAAGAACTCATAGGTGACTTTCTGATGACTGAATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTT
ATTTTTTGAGACGGAGTCCTGCCCTGTTTCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAA
GCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAG
GGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCTGAGCTCAGGTGATCTGTCAGGCCTCTTCTATAGAATTCCAGTCTTTGTGTCTT

>In-frame_ENST00000276500_ENST00000344683_TCGA-EB-A82B-01A_RGS20_chr8_54793644_+_MCPH1_chr8_6335115_length(amino acids)=213AA_start in transcript=122_stop in transcript=763
MRTADGGEPAGASSPAGRVDGGLPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDW
VLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSG

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>In-frame_ENST00000297313_ENST00000344683_TCGA-EB-A82B-01A_RGS20_chr8_54792162_+_MCPH1_chr8_6335115_length(transcript)=1749nt_BP=602nt
CATTAACCAAACAAAGAGAAGCAGAGTGGATCCTGTGCTAATATTGGGAAAACCAGGCAACAGGACTCATTTGGGGCCTTTATTGTGAAA
ACATGCCCCAGCTTTCCCAAGATAACCAAGAGTGCCTCCAGAAACATTTCTCCAGGCCGTCTATATGGACACAGTTTCTGCCCCTGTTCA
GGGCTCAGAGATATAATACAGACATTCACCAAATCACAGAAAATGAAGGAGACCTCAGGGCTGTTCCTGATATCAAGTCCTTCCCGCCTG
CACAGCTCCCAGACTCGCCCGCCGCCCCGAAGCTGTTCGGCCTCCTTTCTAGCCCGCTTTCCAGCCTCGCAAGGTTCTTCTCTCACCTTC
TCCGGCGACCCCCTCCCGAGGCTCCCCGGAGGCGCCTGGACTTCTCCCCCCTGCTTCCCGCCCTGCCGGCCGCCCGGCTCTCGAGGGGGC
ACGAGGAGCTGCCGGGCCGCCTCTCGCTCCTGCTCGGGGCGGCGCTGGCACTGCCCGGCCGACCCTCGGGGGGTCGTCCGCTGAGGCCCC
CCCATCCGGTAGCCAAGCCCAGGGAAGAAGACGCCACCGCTGGGCAGAGCTCGCCTATGCCGCCAACAAGAACATTAGTCATGACAAGCA
TGCCATCTGAAAAGCAGAATGTCGTCATCCAGGTTGTGGATAAATTGAAAGGCTTTTCAATTGCACCAGACGTCTGTGAGACCACGACTC
ACGTGCTTTCCGGGAAGCCACTTCGCACCCTGAATGTGCTGCTGGGAATTGCGCGTGGCTGCTGGGTTCTCTCTTATGATTGGGTGCTAT
GGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCCTGTGCCGAAGCGAGTGCC
ACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGATGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGC
TCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGCCCTACAGCGGAAAGAAGA
AAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAGATTCCATCACCCAGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCAC
AATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACTGTCTTTGGATGTTCAAATGAGAAACAAAACTGTGAAGAG
AAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTTGTGGTTCTTAAGAACTCATAGGTGACTTTCTGATGACTG
AATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTTATTTTTTGAGACGGAGTCCTGCCCTGTTTCCCAGGCTGG
AGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTA
CAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCTGA
GCTCAGGTGATCTGTCAGGCCTCTTCTATAGAATTCCAGTCTTTGTGTCTTAGTCATGATCATAATTGAAAGGTCACAGAACCTTTGTCA

>In-frame_ENST00000297313_ENST00000344683_TCGA-EB-A82B-01A_RGS20_chr8_54792162_+_MCPH1_chr8_6335115_length(amino acids)=360AA_start in transcript=92_stop in transcript=1174
MPQLSQDNQECLQKHFSRPSIWTQFLPLFRAQRYNTDIHQITENEGDLRAVPDIKSFPPAQLPDSPAAPKLFGLLSSPLSSLARFFSHLL
RRPPPEAPRRRLDFSPLLPALPAARLSRGHEELPGRLSLLLGAALALPGRPSGGRPLRPPHPVAKPREEDATAGQSSPMPPTRTLVMTSM
PSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPLCRSECH
LSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ

--------------------------------------------------------------
>In-frame_ENST00000276500_ENST00000344683_TCGA-EB-A82B-01A_RGS20_chr8_54793644_+_MCPH1_chr8_6357373_length(transcript)=1137nt_BP=191nt
GGGAGAAGAGGGCTAGAGCAAAGACCGAGAGCCGGAGAAAGGCGAAAGGCGCGGTGAGCAATCGCCGACGTAGAGAGGGCAGCCCTCCGC
GCTGCAATATTGAGAAGGCACCCGCGGGACGCATGCGCACGGCGGACGGAGGCGAGCCGGCCGGGGCTTCCTCCCCGGCCGGCAGGGTGG
ACGGTGGGCTCGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCC
TGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGATGTTTGTCTCGCCTGCCAGCA
GCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGC
CCTACAGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAGATTCCATCACCCAGCACAAGGTCTGTGCCCCTG
AAAACTACCTATTGTCACAATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACTGTCTTTGGATGTTCAAATGAG
AAACAAAACTGTGAAGAGAAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTTGTGGTTCTTAAGAACTCATAG
GTGACTTTCTGATGACTGAATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTTATTTTTTGAGACGGAGTCCTG
CCCTGTTTCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTGCTGCCTCAGCCT
CCTGAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGG
CTGGTCTCAAACGCCTGAGCTCAGGTGATCTGTCAGGCCTCTTCTATAGAATTCCAGTCTTTGTGTCTTAGTCATGATCATAATTGAAAG

>In-frame_ENST00000276500_ENST00000344683_TCGA-EB-A82B-01A_RGS20_chr8_54793644_+_MCPH1_chr8_6357373_length(amino acids)=146AA_start in transcript=122_stop in transcript=562
MRTADGGEPAGASSPAGRVDGGLVLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELV

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Fusion Gene PPI Analysis for RGS20-MCPH1


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


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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Related Drugs for RGS20-MCPH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for RGS20-MCPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMCPH1C0346153Breast Cancer, Familial7CLINGEN
TgeneMCPH1C1855081MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 14CTD_human;GENOMICS_ENGLAND;UNIPROT