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Fusion gene ID: 38329 |
FusionGeneSummary for TMED3_MCPH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMED3_MCPH1 | Fusion gene ID: 38329 | Hgene | Tgene | Gene symbol | TMED3 | MCPH1 | Gene ID | 23423 | 79648 |
| Gene name | transmembrane p24 trafficking protein 3 | microcephalin 1 | |
| Synonyms | C15orf22|P24B|p24g4|p24gamma4|p26 | BRIT1|MCT | |
| Cytomap | 15q25.1 | 8p23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane 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 3 | microcephalinBRCT-repeat inhibitor of TERT expression 1truncated microcephalin | |
| Modification date | 20180529 | 20180519 | |
| UniProtAcc | Q9Y3Q3 | Q8NEM0 | |
| Ensembl transtripts involved in fusion gene | ENST00000424155, ENST00000299705, ENST00000536821, ENST00000558562, | ENST00000344683, ENST00000519480, ENST00000522905, ENST00000521175, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 4 X 2=24 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | MCPH1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12837246 |
| Tgene | MCPH1 | GO:0071850 | mitotic cell cycle arrest | 24633962 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | DB292767 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000424155 | ENST00000344683 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000424155 | ENST00000519480 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000424155 | ENST00000522905 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000424155 | ENST00000521175 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000299705 | ENST00000344683 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000299705 | ENST00000519480 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000299705 | ENST00000522905 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000299705 | ENST00000521175 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000536821 | ENST00000344683 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000536821 | ENST00000519480 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000536821 | ENST00000522905 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| intron-intron | ENST00000536821 | ENST00000521175 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000558562 | ENST00000344683 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000558562 | ENST00000519480 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000558562 | ENST00000522905 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
| 3UTR-intron | ENST00000558562 | ENST00000521175 | TMED3 | chr15 | 79614830 | + | MCPH1 | chr8 | 6372269 | - |
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FusionProtFeatures for TMED3_MCPH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMED3 | MCPH1 |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TMED3_MCPH1 |
| 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 TMED3_MCPH1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TMED3_MCPH1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TMED3_MCPH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MCPH1 | C1855081 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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