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Fusion gene ID: 23300 |
FusionGeneSummary for NAA50_SNAPC3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: NAA50_SNAPC3 | Fusion gene ID: 23300 | Hgene | Tgene | Gene symbol | NAA50 | SNAPC3 | Gene ID | 80218 | 6619 |
Gene name | N(alpha)-acetyltransferase 50, NatE catalytic subunit | small nuclear RNA activating complex polypeptide 3 | |
Synonyms | MAK3|NAT13|NAT13P|NAT5|NAT5P|SAN|hNaa50p | PTFbeta|SNAP50 | |
Cytomap | 3q13.31 | 9p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | N-alpha-acetyltransferase 50N-acetyltransferase 13 (GCN5-related)N-acetyltransferase 5N-acetyltransferase san homologN-epsilon-acetyltransferase 50natE catalytic subunit | snRNA-activating protein complex subunit 3PSE-binding factor subunit betaPTF subunit betaSNAPc 50 kDa subunitSNAPc subunit 3proximal sequence element-binding transcription factor subunit betasmall nuclear RNA activating complex, polypeptide 3, 50kD | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9GZZ1 | Q92966 | |
Ensembl transtripts involved in fusion gene | ENST00000240922, ENST00000477813, ENST00000497525, ENST00000497255, ENST00000493454, ENST00000493900, ENST00000467022, | ENST00000380821, ENST00000461041, ENST00000380799, | |
Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 2 X 2 X 2=8 |
# samples | 6 | 2 | |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: NAA50 [Title/Abstract] AND SNAPC3 [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 |
Hgene | NAA50 | GO:0006474 | N-terminal protein amino acid acetylation | 21900231|22311970|27484799 |
Hgene | NAA50 | GO:0034087 | establishment of mitotic sister chromatid cohesion | 27422821 |
Hgene | NAA50 | GO:0071962 | mitotic sister chromatid cohesion, centromeric | 17502424 |
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 | AA280259 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
* 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-3UTR | ENST00000240922 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000240922 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000240922 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-3UTR | ENST00000477813 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000477813 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000477813 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-3UTR | ENST00000497525 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000497525 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000497525 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-3UTR | ENST00000497255 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000497255 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000497255 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-3UTR | ENST00000493454 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000493454 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000493454 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-3UTR | ENST00000493900 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000493900 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000493900 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-3UTR | ENST00000467022 | ENST00000380821 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000467022 | ENST00000461041 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
intron-intron | ENST00000467022 | ENST00000380799 | NAA50 | chr3 | 113454753 | - | SNAPC3 | chr9 | 15460600 | + |
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FusionProtFeatures for NAA50_SNAPC3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
NAA50 | SNAPC3 |
N-alpha-acetyltransferase that acetylates the N-terminusof proteins that retain their initiating methionine(PubMed:19744929, PubMed:22311970, PubMed:21900231,PubMed:27484799). Has a broad substrate specificity: able toacetylate the initiator methionine of most peptides, except forthose with a proline in second position (PubMed:27484799). Alsodisplays N-epsilon-acetyltransferase activity by mediatingacetylation of the side chain of specific lysines on proteins(PubMed:19744929). Autoacetylates in vivo (PubMed:19744929). Therelevance of N-epsilon-acetyltransferase activity is howeverunclear: able to acetylate H4 in vitro, but this result has notbeen confirmed in vivo (PubMed:19744929). Component of a N-alpha-acetyltransferase complex containing NAA10 and NAA15, but NAA50does not influence the acetyltransferase activity of NAA10: thismultiprotein complex probably constitutes the major contributorfor N-terminal acetylation at the ribosome exit tunnel, with NAA10acetylating all amino termini that are devoid of methionine andNAA50 acetylating other peptides (PubMed:16507339,PubMed:27484799). Required for sister chromatid cohesion duringmitosis by promoting binding of CDCA5/sororin to cohesin: may actby counteracting the function of NAA10 (PubMed:17502424,PubMed:27422821). {ECO:0000269|PubMed:16507339,ECO:0000269|PubMed:17502424, ECO:0000269|PubMed:19744929,ECO:0000269|PubMed:21900231, ECO:0000269|PubMed:22311970,ECO:0000269|PubMed:27422821, ECO:0000269|PubMed:27484799}. | Part of the SNAPc complex required for the transcriptionof both RNA polymerase II and III small-nuclear RNA genes. Bindsto the proximal sequence element (PSE), a non-TATA-box basalpromoter element common to these 2 types of genes. Recruits TBPand BRF2 to the U6 snRNA TATA box. {ECO:0000269|PubMed:12621023}. |
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 NAA50_SNAPC3 |
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 NAA50_SNAPC3 |
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 NAA50_SNAPC3 |
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 NAA50_SNAPC3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |