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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: 21326

FusionGeneSummary for MCPH1_MCPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: MCPH1_MCPH1
Fusion gene ID: 21326
HgeneTgene
Gene symbol

MCPH1

MCPH1

Gene ID

79648

79648

Gene namemicrocephalin 1microcephalin 1
SynonymsBRIT1|MCTBRIT1|MCT
Cytomap

8p23.1

8p23.1

Type of geneprotein-codingprotein-coding
DescriptionmicrocephalinBRCT-repeat inhibitor of TERT expression 1truncated microcephalinmicrocephalinBRCT-repeat inhibitor of TERT expression 1truncated microcephalin
Modification date2018051920180519
UniProtAcc

Q8NEM0

Q8NEM0

Ensembl transtripts involved in fusion geneENST00000344683, ENST00000519480, 
ENST00000522905, ENST00000521175, 
ENST00000344683, ENST00000519480, 
ENST00000522905, ENST00000521175, 
Fusion gene scores* DoF score5 X 6 X 2=603 X 4 X 2=24
# samples 64
** MAII scorelog2(6/60*10)=0log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MCPH1 [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
HgeneMCPH1

GO:0000122

negative regulation of transcription by RNA polymerase II

12837246

HgeneMCPH1

GO:0071850

mitotic cell cycle arrest

24633962

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
ChiTaRS3.1CV328737MCPH1chr8

6367655

+MCPH1chr8

6367043

+
ChiTaRS3.1DB382708MCPH1chr8

6378817

+MCPH1chr8

6371346

+
* 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-intronENST00000344683ENST00000344683MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000344683ENST00000519480MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000344683ENST00000522905MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000344683ENST00000521175MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000519480ENST00000344683MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000519480ENST00000519480MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000519480ENST00000522905MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000519480ENST00000521175MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000522905ENST00000344683MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000522905ENST00000519480MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000522905ENST00000522905MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000522905ENST00000521175MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000521175ENST00000344683MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000521175ENST00000519480MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000521175ENST00000522905MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000521175ENST00000521175MCPH1chr8

6367655

+MCPH1chr8

6367043

+
intron-intronENST00000344683ENST00000344683MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000344683ENST00000519480MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000344683ENST00000522905MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000344683ENST00000521175MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000519480ENST00000344683MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000519480ENST00000519480MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000519480ENST00000522905MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000519480ENST00000521175MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000522905ENST00000344683MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000522905ENST00000519480MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000522905ENST00000522905MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000522905ENST00000521175MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000521175ENST00000344683MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000521175ENST00000519480MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000521175ENST00000522905MCPH1chr8

6378817

+MCPH1chr8

6371346

+
intron-intronENST00000521175ENST00000521175MCPH1chr8

6378817

+MCPH1chr8

6371346

+

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FusionProtFeatures for MCPH1_MCPH1


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

Q8NEM0

MCPH1

Q8NEM0

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}. 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 MCPH1_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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MCPH1_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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RelatedDrugs for MCPH1_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 MCPH1_MCPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCPH1C1855081MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 11CTD_human;ORPHANET;UNIPROT
TgeneMCPH1C1855081MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 11CTD_human;ORPHANET;UNIPROT