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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:RB1-WDFY2 (FusionGDB2 ID:HG5925TG115825) |
Fusion Gene Summary for RB1-WDFY2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RB1-WDFY2 | Fusion gene ID: hg5925tg115825 | Hgene | Tgene | Gene symbol | RB1 | WDFY2 | Gene ID | 5925 | 115825 |
Gene name | RB transcriptional corepressor 1 | WD repeat and FYVE domain containing 2 | |
Synonyms | OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110 | PROF|WDF2|ZFYVE22 | |
Cytomap | ('RB1')('WDFY2') 13q14.2 | 13q14.3 | |
Type of gene | protein-coding | protein-coding | |
Description | retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas | WD repeat and FYVE domain-containing protein 2WD40 and FYVE domain containing 2WD40- and FYVE domain-containing protein 2propeller-FYVE proteinzinc finger FYVE domain-containing protein 22 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | Q96P53 | |
Ensembl transtripts involved in fusion gene | ENST00000267163, ENST00000484879, | ||
Fusion gene scores | * DoF score | 23 X 9 X 13=2691 | 8 X 6 X 8=384 |
# samples | 27 | 8 | |
** MAII score | log2(27/2691*10)=-3.31711107858959 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/384*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RB1 [Title/Abstract] AND WDFY2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | RB1(48881542)-WDFY2(52325446), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. RB1-WDFY2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. RB1-WDFY2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 | RB1 | GO:0043550 | regulation of lipid kinase activity | 16286473 |
Hgene | RB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10783144|12065415|19223331 |
Hgene | RB1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 25100735 |
Tgene | WDFY2 | GO:0001934 | positive regulation of protein phosphorylation | 17313651 |
Fusion gene breakpoints across RB1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across WDFY2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BLCA | TCGA-HQ-A5NE-01A | RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325446 | + |
ChimerDB4 | BLCA | TCGA-HQ-A5NE-01A | RB1 | chr13 | 48881542 | - | WDFY2 | chr13 | 52325446 | + |
ChimerDB4 | BLCA | TCGA-HQ-A5NE-01A | RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325446 | + |
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Fusion Gene ORF analysis for RB1-WDFY2 |
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-3UTR | ENST00000267163 | ENST00000460145 | RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325446 | + |
5CDS-3UTR | ENST00000267163 | ENST00000460145 | RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325446 | + |
Frame-shift | ENST00000267163 | ENST00000298125 | RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325446 | + |
In-frame | ENST00000267163 | ENST00000298125 | RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325446 | + |
intron-3CDS | ENST00000484879 | ENST00000298125 | RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325446 | + |
intron-3CDS | ENST00000484879 | ENST00000298125 | RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325446 | + |
intron-3UTR | ENST00000484879 | ENST00000460145 | RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325446 | + |
intron-3UTR | ENST00000484879 | ENST00000460145 | RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325446 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000267163 | RB1 | chr13 | 48878185 | + | ENST00000298125 | WDFY2 | chr13 | 52325446 | + | 3019 | 275 | 138 | 752 | 204 |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000267163 | ENST00000298125 | RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325446 | + | 0.015051924 | 0.9849481 |
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Fusion Genomic Features for RB1-WDFY2 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325445 | + | 0.000355629 | 0.9996444 |
RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325445 | + | 1.51E-05 | 0.999985 |
RB1 | chr13 | 48881542 | + | WDFY2 | chr13 | 52325445 | + | 0.000355629 | 0.9996444 |
RB1 | chr13 | 48878185 | + | WDFY2 | chr13 | 52325445 | + | 1.51E-05 | 0.999985 |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for RB1-WDFY2 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:48881542/chr13:52325446) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | WDFY2 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 (PubMed:17313651). Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1 (PubMed:18388859). Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By similarity). Participates in transferrin receptor endocytosis (PubMed:16873553). {ECO:0000250|UniProtKB:Q8BUB4, ECO:0000269|PubMed:16873553, ECO:0000269|PubMed:17313651, ECO:0000269|PubMed:18388859}. |
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 |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 10_18 | 45 | 929.0 | Compositional bias | Note=Poly-Ala |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 20_29 | 45 | 929.0 | Compositional bias | Note=Poly-Pro |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 240_279 | 241 | 401.0 | Repeat | Note=WD 6 | |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 364_399 | 241 | 401.0 | Repeat | Note=WD 7 | |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 281_352 | 241 | 401.0 | Zinc finger | FYVE-type |
- 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 |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 860_876 | 45 | 929.0 | Motif | Bipartite nuclear localization signal |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 373_579 | 45 | 929.0 | Region | Note=Domain A |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 373_771 | 45 | 929.0 | Region | Note=Pocket%3B binds T and E1A |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 580_639 | 45 | 929.0 | Region | Note=Spacer |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 640_771 | 45 | 929.0 | Region | Note=Domain B |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 112_150 | 241 | 401.0 | Repeat | Note=WD 3 | |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 153_192 | 241 | 401.0 | Repeat | Note=WD 4 | |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 197_236 | 241 | 401.0 | Repeat | Note=WD 5 | |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 22_61 | 241 | 401.0 | Repeat | Note=WD 1 | |
Tgene | WDFY2 | chr13:48878185 | chr13:52325446 | ENST00000298125 | 6 | 12 | 66_105 | 241 | 401.0 | Repeat | Note=WD 2 |
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Fusion Gene Sequence for RB1-WDFY2 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>72577_72577_1_RB1-WDFY2_RB1_chr13_48878185_ENST00000267163_WDFY2_chr13_52325446_ENST00000298125_length(transcript)=3019nt_BP=275nt TCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCGCGCGCGTCGTCCT CCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCC GCTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTC GTCAGCGACAGAGTCCAGGCCCTCTCCTATGCACAGCACACGCGACAATTGATCTCCTGTGGCGGTGATGGTGGGATTGTCGTCTGGAAC ATGGACGTGGAGAGGCAGGAGACCCCTGAATGGTTGGACAGTGATTCCTGCCAAAAGTGTGATCAGCCTTTCTTCTGGAACTTCAAGCAA ATGTGGGACAGTAAGAAAATTGGTCTAAGACAGCACCACTGCCGCAAGTGTGGGAAGGCCGTCTGTGGCAAGTGCAGCTCCAAGCGCTCC TCCATCCCCCTGATGGGCTTCGAGTTTGAAGTGAGGGTCTGTGACAGCTGCCACGAGGCCATCACAGATGAAGAACGTGCACCCACAGCC ACCTTCCATGACAGTAAACATAACATTGTGCATGTGCATTTCGATGCAACCAGAGGATGGTTACTGACTTCTGGAACTGACAAGGTTATT AAGTTGTGGGATATGACCCCAGTCGTGTCTTGATGACTCTCCCAGGAATCAGAAAGATAGTATTTACTAAAGAAACGGTTGTTTTAACCC AAATCATTACCAGAGTGGTAAAGCAGACATGTGAGAAGTAAGAAAGAAACTAAAGACCCTGAATGAATTTGCAGATTACCCATGTGCACA GTGGGGACCTGGCCAGTGAGCACTCGCAAGGGGACTCTTCCAACTTGTTCATACAATATAAAAGAAGCTATTTTTTTAACAAATGGTTTA TACAGTCTGGCTGTGCTGCATTGTTTTGAGTGTACCGAAAAATCTGTGTGGGGTGTTTAATTTTTATACTTTTCAACACCCCATTTTACT TGTTGCTTTGTCAGAGAAATAAGGGAGGTATCTACTCAGAGTATTTTGGTCATTATACTTTCTGTGTTTACTTCAACATGTGTCACGTGG CCAGCGGCTTTTTCTTCTCTTCCCTCTGCACCTACCTGCACCTTCTCTGCCTTTCCTGGAGGGGATGTATTTATGTTATTTATTCCCAGT GTTTCTGCTTTCATGTCCTCCTCAGTGGAGAGATTTGGAAACTCATCATGTGGATTCACCAGCCAGCTGCTGGAATTGCCTGAAGAGCGA TTTGTTTGTAATGTCTGCCTCATTCACGTTCTTATGAAGTAGAAAAGACTGTGTTTCTGCCTCAGTTGCCTCTGTCTTTCCCACATTAAA AAAAAAAATGCTGTGAGAAAGCTGCTCCCAACCATGGTTATCACAGAAGTAGATTATTTTAACTCAGAGCTTCAACGATCAGTGCCTGGA TCATTTAGAATTCAGTTGGAGCCTCCTGAGCCTCTTGTTTTAGCTTTTTTGACGCAGCTCTCCCTCACTCGTAACAATGAAAACAAATGA CACACACACAAAATCCTACATCAGCGGCCCTCAACCTTGTTGGCAGCAGGGACCGGTTTCAAAATGAAACTGTTCCACCTCGGATCAGCA GGCATTAGCTTCTCATAAGGAGCACGCAACCTAAATCCCTCGCATGCGCAGTTCACAATAGAGTTTCTGCTCCTGTGAGAATCTGACGCC ACCGCTGATCTGATGGGAGGCGGAGCCCAGGCAGTAACACTTGCTTGCCCACTGCTCACGTCTGATGGGTGCCCCCATTCCTCACAGGCT ATGGACCAGTACCCATCTGCAGCCCAGGGTTGGGGACCCCCACCATACATGCTCTGAAAATAAGTGTCTTTAAGTTGTGTTTTTCTGTGT GACATCATCTCTGAACTTGAACATGTTCATTACGGCAAGATTGTAATCCTGCTGTATTCCTCGCCCTCTGTATTCTATCCCTTTAAAAAC TAGATATTTAAACATTTTATCCTAATGTGTTTCATCAGAACACTTTGCACACTTTCTTACTAAAACGGTATGTGGGTGGTCCGAGACAGA ATGGTACCTACAGTGCAGGCTATGTTTCTGTGGGAATGGAAAAGAGGACTTTAGAAAGTGAACCTGAAGAACTCTTATTTCTAAGGGAAT CCAGTCAAGCTTGAGAAAATGAAATATTCTTGTGTGTAGTGATTCAGCTCAGGATATTGAAGTCCCTTTTAAAAATCTTATTTTCACCTG TAAAAATAGAATAAAAATTAATGGCAAGCCTGCGCCAGGTGCCTGCCCCTCCTAAGCACTTTACACGCACAGCTCATTCAACCTCACGTG TCGGGAGCATCAGGGAGCTCACCAGTCTCTTGAGGATCACAGGCCAATTGCTTGTCCTTCCCGACCCAAGCCCCACCCCACAGTGTCTTG CTCTCTTCTGATTTTACAGGTTTTTTGGCAGTAATACACATGGGAGTGAAATTGAAATCCTCCCTATTATTTTCCCTCTTTTCCTGGAAA GCCGTTTTTTGCCCTCACAATCATTCATTACTTCTCTAACTAGGGGGAAGTACTACAAGCTGTCCTCAGGTACTGCCCCTACGTGTGTTT CCCTGGGATGGGGCCTTGCTAGAGGTGATTCTGCTGCCCCAGCATTGGGAAGCAGGACCAGTGCATGTGCCCCATGCAGCCACGGTACAT GGAAGCTGTCACTTGAGCCATCAGACCGGCTCAGCCCATGTGACCGGAGCTCTGAAGAGGCACACACGCATGCCCCGCACAGGCTGTTAG CACTTGTCGCCTCGCTGCCCTGGTCCAGACTACCCTTGCTTGCGTCAGTCAAAACTGTTGTAACTACTTTGAGTCTTTTCTGCATGATTG >72577_72577_1_RB1-WDFY2_RB1_chr13_48878185_ENST00000267163_WDFY2_chr13_52325446_ENST00000298125_length(amino acids)=204AA_BP=45 MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVSDRVQALSYAQHTRQLISCGGDGGIVVWNMDVERQETPEWLDSDS CQKCDQPFFWNFKQMWDSKKIGLRQHHCRKCGKAVCGKCSSKRSSIPLMGFEFEVRVCDSCHEAITDEERAPTATFHDSKHNIVHVHFDA -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for RB1-WDFY2 |
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 |
Hgene | RB1 | chr13:48878185 | chr13:52325446 | ENST00000267163 | + | 1 | 27 | 763_928 | 45.666666666666664 | 929.0 | LIMD1 |
- 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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Related Drugs for RB1-WDFY2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for RB1-WDFY2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RB1 | C0035335 | Retinoblastoma | 15 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | RB1 | C0006142 | Malignant neoplasm of breast | 3 | CGI;CTD_human |
Hgene | RB1 | C0149925 | Small cell carcinoma of lung | 3 | CGI;CTD_human;ORPHANET |
Hgene | RB1 | C0678222 | Breast Carcinoma | 3 | CGI;CTD_human |
Hgene | RB1 | C0751483 | Familial Retinoblastoma | 3 | CTD_human;ORPHANET |
Hgene | RB1 | C1257931 | Mammary Neoplasms, Human | 3 | CTD_human |
Hgene | RB1 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
Hgene | RB1 | C4704874 | Mammary Carcinoma, Human | 3 | CTD_human |
Hgene | RB1 | C0029463 | Osteosarcoma | 2 | CTD_human;ORPHANET |
Hgene | RB1 | C2239176 | Liver carcinoma | 2 | CTD_human |
Hgene | RB1 | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
Hgene | RB1 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | RB1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Hgene | RB1 | C0007786 | Brain Ischemia | 1 | CTD_human |
Hgene | RB1 | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human |
Hgene | RB1 | C0019207 | Hepatoma, Morris | 1 | CTD_human |
Hgene | RB1 | C0019208 | Hepatoma, Novikoff | 1 | CTD_human |
Hgene | RB1 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | RB1 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | RB1 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Hgene | RB1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | RB1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | RB1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | RB1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | RB1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Hgene | RB1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | RB1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
Hgene | RB1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Hgene | RB1 | C0086404 | Experimental Hepatoma | 1 | CTD_human |
Hgene | RB1 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | RB1 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | RB1 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | RB1 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | RB1 | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
Hgene | RB1 | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
Hgene | RB1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | RB1 | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human |
Hgene | RB1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | RB1 | C0750887 | Adrenal Cancer | 1 | CTD_human |
Hgene | RB1 | C0917798 | Cerebral Ischemia | 1 | CTD_human |
Hgene | RB1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | RB1 | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human |
Hgene | RB1 | C1368275 | Pigmented Basal Cell Carcinoma | 1 | CTD_human |
Hgene | RB1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | RB1 | C2608045 | Trilateral Retinoblastoma | 1 | GENOMICS_ENGLAND |
Hgene | RB1 | C2930974 | Acute erythroleukemia | 1 | CTD_human |
Hgene | RB1 | C2930975 | Acute erythroleukemia - M6a subtype | 1 | CTD_human |
Hgene | RB1 | C2930976 | Acute myeloid leukemia FAB-M6 | 1 | CTD_human |
Hgene | RB1 | C2930977 | Acute erythroleukemia - M6b subtype | 1 | CTD_human |
Hgene | RB1 | C3151302 | Chromosome 13q14 deletion syndrome | 1 | ORPHANET |
Hgene | RB1 | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
Hgene | RB1 | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human |
Hgene | RB1 | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human |
Hgene | RB1 | C4721806 | Carcinoma, Basal Cell | 1 | CTD_human |