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Fusion gene ID: 31551 |
FusionGeneSummary for RNF217_MRPS27 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RNF217_MRPS27 | Fusion gene ID: 31551 | Hgene | Tgene | Gene symbol | RNF217 | MRPS27 | Gene ID | 154214 | 23107 |
Gene name | ring finger protein 217 | mitochondrial ribosomal protein S27 | |
Synonyms | C6orf172|IBRDC1|OSTL|dJ84N20.1 | MRP-S27|S27mt | |
Cytomap | 6q22.31 | 5q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | probable E3 ubiquitin-protein ligase RNF217IBR domain containing 1opposite STL | 28S ribosomal protein S27, mitochondrialmitochondrial 28S ribosomal protein S27mitochondrial small ribosomal subunit protein mS27 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q8TC41 | Q92552 | |
Ensembl transtripts involved in fusion gene | ENST00000521654, ENST00000560949, ENST00000454842, ENST00000368414, ENST00000359704, ENST00000275184, | ENST00000261413, ENST00000457646, ENST00000513900, ENST00000515404, ENST00000522562, ENST00000522095, | |
Fusion gene scores | * DoF score | 7 X 4 X 7=196 | 3 X 3 X 2=18 |
# samples | 10 | 4 | |
** MAII score | log2(10/196*10)=-0.970853654340483 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RNF217 [Title/Abstract] AND MRPS27 [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 |
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 | DB085590 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - | ||
ChiTaRS3.1 | AK310474 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
* 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 | ENST00000521654 | ENST00000261413 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000521654 | ENST00000457646 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000521654 | ENST00000513900 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000521654 | ENST00000515404 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000521654 | ENST00000522562 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-intron | ENST00000521654 | ENST00000522095 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000560949 | ENST00000261413 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000560949 | ENST00000457646 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000560949 | ENST00000513900 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000560949 | ENST00000515404 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000560949 | ENST00000522562 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-intron | ENST00000560949 | ENST00000522095 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000454842 | ENST00000261413 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000454842 | ENST00000457646 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000454842 | ENST00000513900 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000454842 | ENST00000515404 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000454842 | ENST00000522562 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-intron | ENST00000454842 | ENST00000522095 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000368414 | ENST00000261413 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000368414 | ENST00000457646 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000368414 | ENST00000513900 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000368414 | ENST00000515404 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000368414 | ENST00000522562 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-intron | ENST00000368414 | ENST00000522095 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
Frame-shift | ENST00000359704 | ENST00000261413 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
Frame-shift | ENST00000359704 | ENST00000457646 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
Frame-shift | ENST00000359704 | ENST00000513900 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
Frame-shift | ENST00000359704 | ENST00000515404 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
In-frame | ENST00000359704 | ENST00000522562 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
5CDS-intron | ENST00000359704 | ENST00000522095 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000275184 | ENST00000261413 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000275184 | ENST00000457646 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000275184 | ENST00000513900 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000275184 | ENST00000515404 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-3CDS | ENST00000275184 | ENST00000522562 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
intron-intron | ENST00000275184 | ENST00000522095 | RNF217 | chr6 | 125330430 | + | MRPS27 | chr5 | 71533957 | - |
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FusionProtFeatures for RNF217_MRPS27 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RNF217 | MRPS27 |
E3 ubiquitin-protein ligase which accepts ubiquitin fromE2 ubiquitin-conjugating enzymes in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.{ECO:0000250}. | RNA-binding component of the mitochondrial smallribosomal subunit (mt-SSU) that plays a role in mitochondrialprotein synthesis (PubMed:22841715). Stimulates mitochondrial mRNAtranslation of subunit components of the mitochondrial electrontransport chain (PubMed:22841715). Binds to the mitochondrial 12SrRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved alsoin positive regulation of cell proliferation and tumor cell growth(PubMed:28714366). {ECO:0000269|PubMed:22841715,ECO:0000269|PubMed:28714366}. |
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 RNF217_MRPS27 |
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_RNF217_ENST00000359704_chr6_125330430_+_MRPS27_ENST00000522562_chr5_71533957_-_2aa >In-frame_RNF217_ENST00000359704_chr6_125330430_+_MRPS27_ENST00000522562_chr5_71533957_-_2aa |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_RNF217_ENST00000359704_chr6_125330430_+_MRPS27_ENST00000522562_chr5_71533957_-_6nt >In-frame_RNF217_ENST00000359704_chr6_125330430_+_MRPS27_ENST00000522562_chr5_71533957_-_6nt |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_RNF217_ENST00000359704_chr6_125330430_+_MRPS27_ENST00000522562_chr5_71533957_-_1176nt AGTATACAGAGGAGGACACAAACATGAGAAGATTAAGGTAGAGAGTGAAATATGGTCAGGACAAATGTGAATTTAGAGCCTGAGTGATGG TTTAGTGGATTTATGTCCTCACTTGTCACTAATGAAAAGGACCTTACAGGTTATATAATTAAAGCTCTGTTGACATTGGCTCTTGAAGGC AAACTTCATAATGAGGGGAAGAGTCAAGTTTTGTGTAACCTGAAGCATATACAGTGTCCATTGCCAGCACTTGAGTAAAGATAAAGAGTA GGAGAATCAAAGCTGTTGTATAATTAGTTCTCTTCTCATCCACACCCATAAACCAGTTCAAGAAAGGGATGAAGAGGTTTCGACACAGCC CCAACTGCTGGTACCTGAGAAACTGGACTATCCACACCTGGATTAGGCAGTGTCTAAAATATGATGCACAAGACAAAGCCCTATATACCC TTGTAAATAAGGTTCAATATGGAATTTTTCCAGATAACTTTACATTCAATTTACTGATGGATTCTTTCATAAAGAAAGAAAATTACAAAG ATGCTTTATCTGTGGTTTTTGAGGTCATGATGCAAGAAGCCTTTGAAGTGCCTTCCACCCAACTTCTCTCCCTCTATGTTTTATTTCATT GCCTGGCAAAGAAGACAGACTTCAGTTGGGAAGAGGAGAGGAACTTTGGTGCATCCCTTTTGCTTCCAGGCCTAAAACAAAAGAACTCAG TGGGTTTCAGTTCCCAGTTGTATGGCTATGCACTTCTTGATCAGCATTCAGGACTGTCATACAGCCTGAATTGGTCAGAAGTGACAGGGC AAAGAATATGTACTTTGTTGTGGTTTGTGAGCAGAGGCCCTGGTTCTTTGTGATAGCAGCCATCAGATCAGAAGCTCTTTGCTCTCATTG TGTCATTTGCCGTGCAGCCTCACTCAGCCCTGATGGAAGCAGCTGCCCAGAATGTAACTGCAGTCCAGCCCCAAGCACCTTAAAGGGAAG GTGGAGTTGCAGCAAGGGCTACGGGCTGTGTACCACAACATGCCTCTGATATGGAAACCAGGCTACCTTGACAGAGCCCTTCAAGTGATG GAGAAAGTGGCTGCCTCCCCAGAAGACATAAAGCTGTGTAGAGAAGCGCTCGATGTGCTGGGTGCAGTGCTGAAGGCTCTGACTTCAGCT >In-frame_RNF217_ENST00000359704_chr6_125330430_+_MRPS27_ENST00000522562_chr5_71533957_-_1176nt AGTATACAGAGGAGGACACAAACATGAGAAGATTAAGGTAGAGAGTGAAATATGGTCAGGACAAATGTGAATTTAGAGCCTGAGTGATGG TTTAGTGGATTTATGTCCTCACTTGTCACTAATGAAAAGGACCTTACAGGTTATATAATTAAAGCTCTGTTGACATTGGCTCTTGAAGGC AAACTTCATAATGAGGGGAAGAGTCAAGTTTTGTGTAACCTGAAGCATATACAGTGTCCATTGCCAGCACTTGAGTAAAGATAAAGAGTA GGAGAATCAAAGCTGTTGTATAATTAGTTCTCTTCTCATCCACACCCATAAACCAGTTCAAGAAAGGGATGAAGAGGTTTCGACACAGCC CCAACTGCTGGTACCTGAGAAACTGGACTATCCACACCTGGATTAGGCAGTGTCTAAAATATGATGCACAAGACAAAGCCCTATATACCC TTGTAAATAAGGTTCAATATGGAATTTTTCCAGATAACTTTACATTCAATTTACTGATGGATTCTTTCATAAAGAAAGAAAATTACAAAG ATGCTTTATCTGTGGTTTTTGAGGTCATGATGCAAGAAGCCTTTGAAGTGCCTTCCACCCAACTTCTCTCCCTCTATGTTTTATTTCATT GCCTGGCAAAGAAGACAGACTTCAGTTGGGAAGAGGAGAGGAACTTTGGTGCATCCCTTTTGCTTCCAGGCCTAAAACAAAAGAACTCAG TGGGTTTCAGTTCCCAGTTGTATGGCTATGCACTTCTTGATCAGCATTCAGGACTGTCATACAGCCTGAATTGGTCAGAAGTGACAGGGC AAAGAATATGTACTTTGTTGTGGTTTGTGAGCAGAGGCCCTGGTTCTTTGTGATAGCAGCCATCAGATCAGAAGCTCTTTGCTCTCATTG TGTCATTTGCCGTGCAGCCTCACTCAGCCCTGATGGAAGCAGCTGCCCAGAATGTAACTGCAGTCCAGCCCCAAGCACCTTAAAGGGAAG GTGGAGTTGCAGCAAGGGCTACGGGCTGTGTACCACAACATGCCTCTGATATGGAAACCAGGCTACCTTGACAGAGCCCTTCAAGTGATG GAGAAAGTGGCTGCCTCCCCAGAAGACATAAAGCTGTGTAGAGAAGCGCTCGATGTGCTGGGTGCAGTGCTGAAGGCTCTGACTTCAGCT |
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FusionGenePPI for RNF217_MRPS27 |
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 |
RNF217 | KIAA0368, HAX1, POTEKP, ACTBL2, H1FNT, ACTA2 | MRPS27 | HNRNPA1, KHDRBS2, CDK9, ICT1, HDGF, ELAVL1, CUL3, CUL1, COPS5, CAND1, GRK5, MRPS23, DAP3, ILF3, SMURF1, ESR2, C1QBP, YWHAQ, MRPL3, MRPL12, TARDBP, PARK2, RIOK2, GRSF1, AURKB, HAUS2, CEP76, TP53, NECAB2, MOV10, NXF1, BTRC, FBXW11, NOL12, RPL13, TRA2A, RPL6, RPS8, DNAJC1, LRRC15, TRMT10B, ZNF707, LUC7L, MRPS31, MRPS5, MRPS22, MRPS28, NTRK1, CENPA, HNRNPU, RPL10, TSNAX, THOC5, PHF8, THOC2, MYH7B, FBXO31, FERMT3, ZSCAN26, ERBB3, ZNF746, C8orf82, NOA1, MRPS34, MRPS9, MRPS33, MRPS7, MRPS11, MRPS26, PTCD3, MRPS35, MRPS24, MRPS21, STRBP, MRPS15, MRPS10, MRPS14, MRPS18C, MRPS2, MRPS25, MRPS16, MRPS18B, METTL17, AURKAIP1 |
- 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 RNF217_MRPS27 |
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 RNF217_MRPS27 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |