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Fusion gene ID: 30625 |
FusionGeneSummary for RBBP5_DSTYK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBBP5_DSTYK | Fusion gene ID: 30625 | Hgene | Tgene | Gene symbol | RBBP5 | DSTYK | Gene ID | 5929 | 25778 |
| Gene name | RB binding protein 5, histone lysine methyltransferase complex subunit | dual serine/threonine and tyrosine protein kinase | |
| Synonyms | RBQ3|SWD1 | CAKUT1|DustyPK|HDCMD38P|RIP5|RIPK5|SPG23 | |
| Cytomap | 1q32.1 | 1q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | retinoblastoma-binding protein 5RBBP-5SWD1, Set1c WD40 repeat protein, homologretinoblastoma-binding protein RBQ-3 | dual serine/threonine and tyrosine protein kinaseRIP-homologous kinasedusty PKdusty protein kinasereceptor-interacting serine/threonine-protein kinase 5sgK496sugen kinase 496 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q15291 | Q6XUX3 | |
| Ensembl transtripts involved in fusion gene | ENST00000367164, ENST00000264515, ENST00000484379, | ENST00000367160, ENST00000367161, ENST00000367162, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RBBP5 [Title/Abstract] AND DSTYK [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 | RBBP5 | GO:0006974 | cellular response to DNA damage stimulus | 17500065 |
| Hgene | RBBP5 | GO:0043627 | response to estrogen | 16603732 |
| Hgene | RBBP5 | GO:0051568 | histone H3-K4 methylation | 17355966|19556245 |
| Tgene | DSTYK | GO:0044344 | cellular response to fibroblast growth factor stimulus | 23862974 |
| 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 |
| TCGA | LD | LUAD | TCGA-49-4506-01A | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| * 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 |
| 5CDS-intron | ENST00000367164 | ENST00000367160 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5CDS-intron | ENST00000367164 | ENST00000367161 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5CDS-intron | ENST00000367164 | ENST00000367162 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5CDS-intron | ENST00000264515 | ENST00000367160 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5CDS-intron | ENST00000264515 | ENST00000367161 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5CDS-intron | ENST00000264515 | ENST00000367162 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5UTR-intron | ENST00000484379 | ENST00000367160 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5UTR-intron | ENST00000484379 | ENST00000367161 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
| 5UTR-intron | ENST00000484379 | ENST00000367162 | RBBP5 | chr1 | 205083917 | - | DSTYK | chr1 | 205119922 | - |
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FusionProtFeatures for RBBP5_DSTYK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBBP5 | DSTYK |
| In embryonic stem (ES) cells, plays a crucial role inthe differentiation potential, particularly along the neurallineage, regulating gene induction and H3 'Lys-4' methylation atkey developmental loci, including that mediated by retinoic acid(By similarity). As part of the MLL1/MLL complex, involved inmono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3'Lys-4' methylation represents a specific tag for epigenetictranscriptional activation. {ECO:0000250,ECO:0000269|PubMed:19556245}. |
| 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 RBBP5_DSTYK |
| 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 RBBP5_DSTYK |
| 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 |
| RBBP5 | KMT2A, ASH2L, HCFC1, HCFC2, MEN1, WDR5, ASCL2, KMT2C, NCOA6, HIST2H3C, RB1, CXXC1, SETD1A, WDR82P1, KDM6A, SETD1B, MYB, CHD8, CTNNB1, ZNF335, CCAR2, C11orf30, CUL4A, CUL4B, DDB1, TP53, KAT8, KMT2D, MEF2D, PAXIP1, USF1, RBBP5, PAGR1, KMT2B, WAS, WDR82, PYGO2, CDC73, HIST3H3, ESR1, TBK1, PSMA3, CTBP1, KDM4B, KANSL1, DPY30, ELAVL1, SMARCC1, SMARCE1, SMARCD2, SRRT, DHX38, KLC2, SMARCD1, KDM6B, SENP3, UBE2I, PPARG, PKN1, EP300, WDR33, ZBTB8OS, TUBA1A, MYH7B, FERMT3, BOD1L1, FOXK2, FOXQ1, SNW1, CDC5L, MAFA, MAFB, NANOG, CHD7, RPL37A, BRCA1 | DSTYK | IKBKE, RAB14, HSPE1, MTPN, PSMB1, UBE2K, PSMB3, MAD2L1, ATP5F1, RPS9, DDT, LSM12, RAB5C, CTDSP1, CEP170, B3GNT3, DCAF15, ARHGAP25, CDK13, CLTC, IL1R2, CDH13, RAB2B, DCTN1, CD79B, GRPR, BSG, FRMD1, LAMP3, SLAMF1, P2RX2, CCL22, DEF8, NCR3LG1, PLA2G10, DKKL1, TRIM25 |
| - 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 RBBP5_DSTYK |
| 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 RBBP5_DSTYK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DSTYK | C4017279 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO | 1 | UNIPROT |
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