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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: 31113

FusionGeneSummary for RGS20_MCPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: RGS20_MCPH1
Fusion gene ID: 31113
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 date2018052220180519
UniProtAcc

O76081

Q8NEM0

Ensembl transtripts involved in fusion geneENST00000297313, ENST00000344277, 
ENST00000522225, ENST00000276500, 
ENST00000517405, 
ENST00000344683, 
ENST00000519480, ENST00000522905, 
ENST00000521175, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 4 X 2=24
# samples 34
** MAII scorelog2(3/8*10)=1.90689059560852log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RGS20 [Title/Abstract] AND MCPH1 [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
TgeneMCPH1

GO:0000122

negative regulation of transcription by RNA polymerase II

12837246

TgeneMCPH1

GO:0071850

mitotic cell cycle arrest

24633962


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
TCGARVSKCMTCGA-EB-A82B-01ARGS20chr8

54793644

+MCPH1chr8

6335115

+
* 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
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

+

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FusionProtFeatures for RGS20_MCPH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RGS20

O76081

MCPH1

Q8NEM0

Inhibits signal transduction by increasing the GTPaseactivity of G protein alpha subunits thereby driving them intotheir inactive GDP-bound form. Binds selectively to G(z)-alpha andG(alpha)-i2 subunits, accelerates their GTPase activity andregulates their signaling activities. The G(z)-alpha activity isinhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediatedactivation of the G-proteins (By similarity). {ECO:0000250,ECO:0000269|PubMed:12379657}. Implicated in chromosome condensation and DNA damageinduced cellular responses. May play a role in neurogenesis andregulation 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

- 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 RGS20_MCPH1


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.
>In-frame_RGS20_ENST00000276500_chr8_54793644_+_MCPH1_ENST00000344683_chr8_6335115_+_214aa
MRTADGGEPAGASSPAGRVDGGLPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSTDW
VLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSG


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RGS20_ENST00000276500_chr8_54793644_+_MCPH1_ENST00000344683_chr8_6335115_+_642nt
ATGCGCACGGCGGACGGAGGCGAGCCGGCCGGGGCTTCCTCCCCGGCCGGCAGGGTGGACGGTGGGCTCCCAACAAGAACATTAGTCATG
ACAAGCATGCCATCTGAAAAGCAGAATGTCGTCATCCAGGTTGTGGATAAATTGAAAGGCTTTTCAATTGCACCAGACGTCTGTGAGACC
ACGACTCACGTGCTTTCCGGGAAGCCACTTCGCACCCTGAATGTGCTGCTGGGAATTGCGCGTGGCTGCTGGGTTCTCTCTTATGATTGG
GTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCCTGTGCCGAAGC
GAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGATGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTG
GCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGCCCTACAGCGGA
AAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAGATTCCATCACCCAGCACAAGGTCTGTGCCCCTGAAAACTACCTA


* Fusion transcript sequences (Full-length transcript).
>In-frame_RGS20_ENST00000276500_chr8_54793644_+_MCPH1_ENST00000344683_chr8_6335115_+_1338nt
GGGAGAAGAGGGCTAGAGCAAAGACCGAGAGCCGGAGAAAGGCGAAAGGCGCGGTGAGCAATCGCCGACGTAGAGAGGGCAGCCCTCCGC
GCTGCAATATTGAGAAGGCACCCGCGGGACGCATGCGCACGGCGGACGGAGGCGAGCCGGCCGGGGCTTCCTCCCCGGCCGGCAGGGTGG
ACGGTGGGCTCCCAACAAGAACATTAGTCATGACAAGCATGCCATCTGAAAAGCAGAATGTCGTCATCCAGGTTGTGGATAAATTGAAAG
GCTTTTCAATTGCACCAGACGTCTGTGAGACCACGACTCACGTGCTTTCCGGGAAGCCACTTCGCACCCTGAATGTGCTGCTGGGAATTG
CGCGTGGCTGCTGGGTTCTCTCTTATGATTGGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTC
ACCACTTCCCTGCAGCTCCCCTGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGA
TGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCC
AGGCCAGCATCGTCATCGGGCCCTACAGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAGATTCCATCACCC
AGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCACAATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACT
GTCTTTGGATGTTCAAATGAGAAACAAAACTGTGAAGAGAAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTT
GTGGTTCTTAAGAACTCATAGGTGACTTTCTGATGACTGAATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTT
ATTTTTTGAGACGGAGTCCTGCCCTGTTTCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAA
GCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAG
GGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCTGAGCTCAGGTGATCTGTCAGGCCTCTTCTATAGAATTCCAGTCTTTGTGTCTT


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FusionGenePPI 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
RGS20OSTM1, NSF, GLRX3, PMVK, SPTLC1, BOLA1, MLF2, SLC39A7, TXLNA, RUVBL2, TRMT112, FAF2, SET, STMN2, GNAZ, GNAO1, ADRB2, KIF1A, FASLG, AQP1, GNAI2, HOXA1, HSPD1, INS, KRTAP5-9, OTX1, PTGER3, CREB5, MAPKBP1, PVRL3, CRCT1, KRTAP4-2, PTPMT1, CATSPER1, TBC1D16, LCE4A, KLHL38, LCE1B, LCE2A, LCE2D, LCE3E, KRTAP5-6, ABHD17A, AARSD1, TTC7B, NARF, CRY1, SELO, EFR3B, FAM126A, NBN, RAD50, ZNF664, RGS19, NARFL, DPH2, TXLNG, EFR3A, MOCOS, MIOS, ZYG11B, MRE11A, KIF3B, TYW1, ZNF696, TRMT1L, ZNF444, GFER, PI4KA, PLK1, KIF3A, DPH1, NLN, PRIM2, ATP6V0A1, CTU2, TARBP1, CIAPIN1, DCAF10, CUL2, PGPMCPH1RAD51, BRCA2, SMARCA4, SMARCC2, SMARCC1, SMARCB1, SMARCA2, MCM2, MDC1, ATM, TP53BP1, NBN, ATR, RPA1, CHEK1, E2F1, H2AFX, CHD4, CDC27, ABCC2, PHF11, TADA2A, KDM1A, CRACR2A, BIRC6, USP8, KRAS, POLR2G, UXT, AKIP1, COL1A1, ENO1, GNB2L1, LAMTOR5, MT2A, OBSL1, THAP11, ACTG1, AKR7A2, B3GALT6, CCDC77, CCT5, COL27A1, COPB2, COPS3, CTSL, DNAJA3, DNAJC19, EIF3F, EIF4A2, EMG1, FBLN1, FBXW11, FLNA, GABARAPL2, HNRNPA2B1, HSPD1, KAT5, LGALS3, MCM5, MITD1, MRPL46, NCCRP1, NMI, NR2F1, PMVK, POLD1, PPA1, PPRC1, RBM39, RSL24D1, RUVBL2, S100A16, SMOX, SUPT6H, TAF1D, TPT1, TRAP1, TSEN54, VIM, WDR53, WDR61, WDR73, WDR75, WNT10B, ZMIZ2, FZR1, ZNF827


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 RGS20_MCPH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RGS20_MCPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRGS20C0024809Marijuana Abuse1PSYGENET
TgeneMCPH1C1855081MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 11CTD_human;ORPHANET;UNIPROT