FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 38329

FusionGeneSummary for TMED3_MCPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMED3_MCPH1
Fusion gene ID: 38329
HgeneTgene
Gene symbol

TMED3

MCPH1

Gene ID

23423

79648

Gene nametransmembrane p24 trafficking protein 3microcephalin 1
SynonymsC15orf22|P24B|p24g4|p24gamma4|p26BRIT1|MCT
Cytomap

15q25.1

8p23.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane emp24 domain-containing protein 3integral type I proteinmembrane protein p24Bp24 family protein gamma-4testis tissue sperm-binding protein Li 48etransmembrane emp24 protein transport domain containing 3microcephalinBRCT-repeat inhibitor of TERT expression 1truncated microcephalin
Modification date2018052920180519
UniProtAcc

Q9Y3Q3

Q8NEM0

Ensembl transtripts involved in fusion geneENST00000424155, ENST00000299705, 
ENST00000536821, ENST00000558562, 
ENST00000344683, ENST00000519480, 
ENST00000522905, ENST00000521175, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 4 X 2=24
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMED3 [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
ChiTaRS3.1DB292767TMED3chr15

79614830

+MCPH1chr8

6372269

-
* 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-intronENST00000424155ENST00000344683TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000424155ENST00000519480TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000424155ENST00000522905TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000424155ENST00000521175TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000299705ENST00000344683TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000299705ENST00000519480TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000299705ENST00000522905TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000299705ENST00000521175TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000536821ENST00000344683TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000536821ENST00000519480TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000536821ENST00000522905TMED3chr15

79614830

+MCPH1chr8

6372269

-
intron-intronENST00000536821ENST00000521175TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000558562ENST00000344683TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000558562ENST00000519480TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000558562ENST00000522905TMED3chr15

79614830

+MCPH1chr8

6372269

-
3UTR-intronENST00000558562ENST00000521175TMED3chr15

79614830

+MCPH1chr8

6372269

-

Top

FusionProtFeatures for TMED3_MCPH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMED3

Q9Y3Q3

MCPH1

Q8NEM0

Potential role in vesicular protein trafficking, mainlyin the early secretory pathway. Contributes to the coupledlocalization of TMED2 and TMED10 in the cis-Golgi network.{ECO:0000269|PubMed:10852829}. 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


Top

FusionGeneSequence for TMED3_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).

Top

FusionGenePPI for TMED3_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


Top

RelatedDrugs for TMED3_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

Top

RelatedDiseases for TMED3_MCPH1


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