|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 31839 |
FusionGeneSummary for RPL23A_NAA15 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPL23A_NAA15 | Fusion gene ID: 31839 | Hgene | Tgene | Gene symbol | RPL23A | NAA15 | Gene ID | 6147 | 80155 |
| Gene name | ribosomal protein L23a | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | |
| Synonyms | L23A|MDA20 | Ga19|MRD50|NARG1|NAT1P|NATH|TBDN|TBDN100 | |
| Cytomap | 17q11.2 | 4q31.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 60S ribosomal protein L23alarge ribosomal subunit protein uL23melanoma differentiation-associated gene 20 | N-alpha-acetyltransferase 15, NatA auxiliary subunitN-terminal acetyltransferaseNMDA receptor regulated 1NMDA receptor-regulated protein 1gastric cancer antigen Ga19protein tubedown-1transcriptional coactivator tubedown-100tubedown-1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P62750 | Q9BXJ9 | |
| Ensembl transtripts involved in fusion gene | ENST00000422514, ENST00000496182, ENST00000394938, ENST00000472628, | ENST00000296543, ENST00000398947, ENST00000480277, ENST00000515576, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 7 X 5 X 7=245 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RPL23A [Title/Abstract] AND NAA15 [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 | NAA15 | GO:0006474 | N-terminal protein amino acid acetylation | 15496142 |
| Tgene | NAA15 | GO:0045893 | positive regulation of transcription, DNA-templated | 12145306 |
| 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 | BG623888 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| * 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-3CDS | ENST00000422514 | ENST00000296543 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000422514 | ENST00000398947 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000422514 | ENST00000480277 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000422514 | ENST00000515576 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000496182 | ENST00000296543 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000496182 | ENST00000398947 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000496182 | ENST00000480277 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000496182 | ENST00000515576 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000394938 | ENST00000296543 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000394938 | ENST00000398947 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000394938 | ENST00000480277 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000394938 | ENST00000515576 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000472628 | ENST00000296543 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-3CDS | ENST00000472628 | ENST00000398947 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000472628 | ENST00000480277 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
| intron-intron | ENST00000472628 | ENST00000515576 | RPL23A | chr17 | 27050502 | + | NAA15 | chr4 | 140278552 | + |
Top |
FusionProtFeatures for RPL23A_NAA15 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPL23A | NAA15 |
| Component of the ribosome, a large ribonucleoproteincomplex responsible for the synthesis of proteins in the cell.Binds a specific region on the 26S rRNA. May promote p53/TP53degradation possibly through the stimulation of MDM2-mediated TP53polyubiquitination (PubMed:26203195). {ECO:0000250,ECO:0000269|PubMed:26203195}. | Auxillary subunit of the N-terminal acetyltransferase A(NatA) complex which displays alpha (N-terminal) acetyltransferaseactivity. The NAT activity may be important for vascular,hematopoietic and neuronal growth and development. Required tocontrol retinal neovascularization in adult ocular endothelialcells. In complex with XRCC6 and XRCC5 (Ku80), up-regulatestranscription from the osteocalcin promoter.{ECO:0000269|PubMed:11687548, ECO:0000269|PubMed:12145306,ECO:0000269|PubMed:15496142}. |
| 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 |
Top |
FusionGeneSequence for RPL23A_NAA15 |
| 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 RPL23A_NAA15 |
| 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 |
Top |
RelatedDrugs for RPL23A_NAA15 |
| 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 |
| Hgene | RPL23A | P62750 | DB11638 | Artenimol | 60S ribosomal protein L23a | small molecule | approved|investigational |
Top |
RelatedDiseases for RPL23A_NAA15 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RPL23A | C0030567 | Parkinson Disease | 1 | CTD_human |
| Hgene | RPL23A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|