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Fusion gene ID: 31785 |
FusionGeneSummary for RPL11_TMCO6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPL11_TMCO6 | Fusion gene ID: 31785 | Hgene | Tgene | Gene symbol | RPL11 | TMCO6 | Gene ID | 6135 | 55374 |
| Gene name | ribosomal protein L11 | transmembrane and coiled-coil domains 6 | |
| Synonyms | DBA7|GIG34|L11|uL5 | PRO1580 | |
| Cytomap | 1p36.11 | 5q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 60S ribosomal protein L11CLL-associated antigen KW-12cell growth-inhibiting protein 34large ribosomal subunit protein uL5 | transmembrane and coiled-coil domain-containing protein 6 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P62913 | Q96DC7 | |
| Ensembl transtripts involved in fusion gene | ENST00000374550, ENST00000482370, | ENST00000394671, ENST00000511410, ENST00000537378, ENST00000252100, | |
| Fusion gene scores | * DoF score | 11 X 11 X 5=605 | 2 X 2 X 2=8 |
| # samples | 11 | 2 | |
| ** MAII score | log2(11/605*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RPL11 [Title/Abstract] AND TMCO6 [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 | RPL11 | GO:0002181 | cytoplasmic translation | 25957688 |
| Hgene | RPL11 | GO:0010628 | positive regulation of gene expression | 18560357 |
| Hgene | RPL11 | GO:2000435 | negative regulation of protein neddylation | 18560357 |
| 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 | CN269184 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| * 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 |
| In-frame | ENST00000374550 | ENST00000394671 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| Frame-shift | ENST00000374550 | ENST00000511410 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| 5CDS-5UTR | ENST00000374550 | ENST00000537378 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| 5CDS-5UTR | ENST00000374550 | ENST00000252100 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| 3UTR-3CDS | ENST00000482370 | ENST00000394671 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| 3UTR-3CDS | ENST00000482370 | ENST00000511410 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| 3UTR-5UTR | ENST00000482370 | ENST00000537378 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
| 3UTR-5UTR | ENST00000482370 | ENST00000252100 | RPL11 | chr1 | 24022336 | + | TMCO6 | chr5 | 140021281 | + |
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FusionProtFeatures for RPL11_TMCO6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPL11 | TMCO6 |
| Component of the ribosome, a large ribonucleoproteincomplex responsible for the synthesis of proteins in the cell. Thesmall ribosomal subunit (SSU) binds messenger RNAs (mRNAs) andtranslates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) containsthe ribosomal catalytic site termed the peptidyl transferasecenter (PTC), which catalyzes the formation of peptide bonds,thereby polymerizing the amino acids delivered by tRNAs into apolypeptide chain. The nascent polypeptides leave the ribosomethrough a tunnel in the LSU and interact with protein factors thatfunction in enzymatic processing, targeting, and the membraneinsertion of nascent chains at the exit of the ribosomal tunnel.As part of the 5S RNP/5S ribonucleoprotein particle it is anessential component of the LSU, required for its formation and thematuration of rRNAs (PubMed:19061985, PubMed:12962325,PubMed:24120868). It also couples ribosome biogenesis to p53/TP53activation. As part of the 5S RNP it accumulates in thenucleoplasm and inhibits MDM2, when ribosome biogenesis isperturbed, mediating the stabilization and the activation of TP53(PubMed:24120868). Promotes nucleolar location of PML (Bysimilarity). {ECO:0000250|UniProtKB:Q9CXW4,ECO:0000269|PubMed:12962325, ECO:0000269|PubMed:19061985,ECO:0000269|PubMed:24120868}. |
| 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 RPL11_TMCO6 |
| 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. |
| >In-frame_RPL11_ENST00000374550_chr1_24022336_+_TMCO6_ENST00000394671_chr5_140021281_+_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_RPL11_ENST00000374550_chr1_24022336_+_TMCO6_ENST00000394671_chr5_140021281_+_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_RPL11_ENST00000374550_chr1_24022336_+_TMCO6_ENST00000394671_chr5_140021281_+_0nt |
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FusionGenePPI for RPL11_TMCO6 |
| 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 RPL11_TMCO6 |
| 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 RPL11_TMCO6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RPL11 | C2675512 | Diamond-Blackfan Anemia 7 | 1 | CTD_human;UNIPROT |
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