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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: 21327

FusionGeneSummary for MCPH1_SSU72

check button Fusion gene summary
Fusion gene informationFusion gene name: MCPH1_SSU72
Fusion gene ID: 21327
HgeneTgene
Gene symbol

MCPH1

SSU72

Gene ID

79648

29101

Gene namemicrocephalin 1SSU72 homolog, RNA polymerase II CTD phosphatase
SynonymsBRIT1|MCTHSPC182|PNAS-120
Cytomap

8p23.1

1p36.33

Type of geneprotein-codingprotein-coding
DescriptionmicrocephalinBRCT-repeat inhibitor of TERT expression 1truncated microcephalinRNA polymerase II subunit A C-terminal domain phosphatase SSU72CTD phosphatase SSU72
Modification date2018051920180523
UniProtAcc

Q8NEM0

Q9NP77

Ensembl transtripts involved in fusion geneENST00000344683, ENST00000519480, 
ENST00000522905, ENST00000521175, 
ENST00000291386, ENST00000359060, 
Fusion gene scores* DoF score5 X 6 X 2=609 X 7 X 6=378
# samples 610
** MAII scorelog2(6/60*10)=0log2(10/378*10)=-1.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCPH1 [Title/Abstract] AND SSU72 [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
HgeneMCPH1

GO:0000122

negative regulation of transcription by RNA polymerase II

12837246

HgeneMCPH1

GO:0071850

mitotic cell cycle arrest

24633962

TgeneSSU72

GO:0070940

dephosphorylation of RNA polymerase II C-terminal domain

20861839


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
ChiTaRS3.1BG011718MCPH1chr8

6501305

+SSU72chr1

1500269

+
* 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-3CDSENST00000344683ENST00000291386MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000344683ENST00000359060MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000519480ENST00000291386MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000519480ENST00000359060MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000522905ENST00000291386MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000522905ENST00000359060MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000521175ENST00000291386MCPH1chr8

6501305

+SSU72chr1

1500269

+
intron-3CDSENST00000521175ENST00000359060MCPH1chr8

6501305

+SSU72chr1

1500269

+

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FusionProtFeatures for MCPH1_SSU72


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MCPH1

Q8NEM0

SSU72

Q9NP77

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}. Protein phosphatase that catalyzes the dephosphorylationof the C-terminal domain of RNA polymerase II. Plays a role in RNAprocessing and termination. Plays a role in pre-mRNApolyadenylation via its interaction with SYMPK.{ECO:0000269|PubMed:15659578, ECO:0000269|PubMed:20861839,ECO:0000269|PubMed:23070812}.

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 MCPH1_SSU72


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 MCPH1_SSU72


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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RelatedDrugs for MCPH1_SSU72


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 MCPH1_SSU72


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCPH1C1855081MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 11CTD_human;ORPHANET;UNIPROT