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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:CDKN2D-WDFY2 (FusionGDB2 ID:HG1032TG115825) |
Fusion Gene Summary for CDKN2D-WDFY2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDKN2D-WDFY2 | Fusion gene ID: hg1032tg115825 | Hgene | Tgene | Gene symbol | CDKN2D | WDFY2 | Gene ID | 1032 | 115825 |
| Gene name | cyclin dependent kinase inhibitor 2D | WD repeat and FYVE domain containing 2 | |
| Synonyms | INK4D|p19|p19-INK4D | PROF|WDF2|ZFYVE22 | |
| Cytomap | ('CDKN2D')('WDFY2') 19p13.2 | 13q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase 4 inhibitor DCDK inhibitor p19INK4dcell cycle inhibitor, Nur77 associating proteincyclin-dependent kinase 4 inhibitor D p19cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)inhibitor of cyclin-dependent kinase 4d | 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 | 20200313 | 20200313 | |
| UniProtAcc | P55273 | Q96P53 | |
| Ensembl transtripts involved in fusion gene | ENST00000335766, ENST00000393599, | ||
| Fusion gene scores | * DoF score | 2 X 4 X 2=16 | 8 X 6 X 8=384 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/16*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: CDKN2D [Title/Abstract] AND WDFY2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | |||
| Anticipated loss of major functional domain due to fusion event. | CDKN2D-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 | CDKN2D | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | 8741839 |
| Hgene | CDKN2D | GO:0000082 | G1/S transition of mitotic cell cycle | 10208428 |
| Hgene | CDKN2D | GO:0007050 | cell cycle arrest | 10208428 |
| Hgene | CDKN2D | GO:0008285 | negative regulation of cell proliferation | 10208428 |
| Hgene | CDKN2D | GO:0030308 | negative regulation of cell growth | 10208428 |
| Hgene | CDKN2D | GO:0042326 | negative regulation of phosphorylation | 10208428 |
| Tgene | WDFY2 | GO:0001934 | positive regulation of protein phosphorylation | 17313651 |
| 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 |
| ChimerKB3 | . | . | CDKN2D | chr19 | 10677733 | - | WDFY2 | chr13 | 52249305 | + |
| ChimerKB3 | . | . | CDKN2D | chr19 | 10679188 | - | WDFY2 | chr13 | 52249305 | + |
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Fusion Gene ORF analysis for CDKN2D-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-intron | ENST00000335766 | ENST00000460145 | CDKN2D | chr19 | 10679188 | - | WDFY2 | chr13 | 52249305 | + |
| 5CDS-intron | ENST00000393599 | ENST00000460145 | CDKN2D | chr19 | 10679188 | - | WDFY2 | chr13 | 52249305 | + |
| Frame-shift | ENST00000393599 | ENST00000298125 | CDKN2D | chr19 | 10679188 | - | WDFY2 | chr13 | 52249305 | + |
| In-frame | ENST00000335766 | ENST00000298125 | CDKN2D | chr19 | 10679188 | - | WDFY2 | chr13 | 52249305 | + |
| intron-3CDS | ENST00000335766 | ENST00000298125 | CDKN2D | chr19 | 10677733 | - | WDFY2 | chr13 | 52249305 | + |
| intron-3CDS | ENST00000393599 | ENST00000298125 | CDKN2D | chr19 | 10677733 | - | WDFY2 | chr13 | 52249305 | + |
| intron-intron | ENST00000335766 | ENST00000460145 | CDKN2D | chr19 | 10677733 | - | WDFY2 | chr13 | 52249305 | + |
| intron-intron | ENST00000393599 | ENST00000460145 | CDKN2D | chr19 | 10677733 | - | WDFY2 | chr13 | 52249305 | + |
| 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) |
| ENST00000335766 | CDKN2D | chr19 | 10679188 | - | ENST00000298125 | WDFY2 | chr13 | 52249305 | + | 3533 | 269 | 43 | 1266 | 407 |
| 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 |
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Fusion Genomic Features for CDKN2D-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) |
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Fusion Protein Features for CDKN2D-WDFY2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:/chr13:) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDKN2D | WDFY2 |
| FUNCTION: Interacts strongly with CDK4 and CDK6 and inhibits them. {ECO:0000269|PubMed:7739548, ECO:0000269|PubMed:8741839}. | 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 |
| - 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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Fusion Gene Sequence for CDKN2D-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. |
| >15421_15421_1_CDKN2D-WDFY2_CDKN2D_chr19_10679188_ENST00000335766_WDFY2_chr13_52249305_ENST00000298125_length(transcript)=3533nt_BP=269nt AGTTGCGTTCGGGGCGTGGCCGGGAGCACGTTGGCTCCGCCCCCTGGCGGCTGCCTCAGCGGCGGCGGCGGCGCAGGCTCAGAGCAGACC CCGCCCGGCGAGGAGGAGGGAGGGCCGCCAGTGTCGACATGCTGCTGGAGGAGGTTCGCGCCGGCGACCGGCTGAGTGGGGCGGCGGCCC GGGGCGACGTGCAGGAGGTGCGCCGCCTTCTGCACCGGGAGCTGGTGCATCCCGACGCCCTCAACCGCTTCGGCAAGACGGCGCTGCAGC TCCATGTTCATGCATGTCTTTTAACCCGGAAACAAGAAGACTGTCCATAGGTCTAGACAATGGTACAATCTCAGAGTTTATATTGTCAGA AGATTATAACAAGATGACTCCTGTGAAAAACTATCAAGCGCATCAGAGCAGAGTGACGATGATCCTGTTTGTCCTGGAGCTGGAGTGGGT GCTGAGCACAGGACAGGACAAGCAATTTGCCTGGCACTGCTCTGAGAGTGGGCAGCGCCTGGGAGGTTATCGGACCAGTGCTGTGGCCTC AGGCCTGCAATTTGATGTTGAAACCCGGCATGTGTTTATCGGTGACCACTCAGGCCAAGTAACAATCCTCAAACTGGAGCAAGAAAACTG CACCCTGGTCACAACATTCAGAGGACACACAGGTGGGGTGACCGCTCTCTGTTGGGACCCAGTCCAGCGGGTGTTGTTCTCAGGCAGTTC AGATCACTCTGTCATCATGTGGGACATCGGTGGGAGAAAAGGAACAGCCATCGAGCTCCAAGGACACAACGACAGAGTCCAGGCCCTCTC CTATGCACAGCACACGCGACAATTGATCTCCTGTGGCGGTGATGGTGGGATTGTCGTCTGGAACATGGACGTGGAGAGGCAGGAGACCCC TGAATGGTTGGACAGTGATTCCTGCCAAAAGTGTGATCAGCCTTTCTTCTGGAACTTCAAGCAAATGTGGGACAGTAAGAAAATTGGTCT AAGACAGCACCACTGCCGCAAGTGTGGGAAGGCCGTCTGTGGCAAGTGCAGCTCCAAGCGCTCCTCCATCCCCCTGATGGGCTTCGAGTT TGAAGTGAGGGTCTGTGACAGCTGCCACGAGGCCATCACAGATGAAGAACGTGCACCCACAGCCACCTTCCATGACAGTAAACATAACAT TGTGCATGTGCATTTCGATGCAACCAGAGGATGGTTACTGACTTCTGGAACTGACAAGGTTATTAAGTTGTGGGATATGACCCCAGTCGT GTCTTGATGACTCTCCCAGGAATCAGAAAGATAGTATTTACTAAAGAAACGGTTGTTTTAACCCAAATCATTACCAGAGTGGTAAAGCAG ACATGTGAGAAGTAAGAAAGAAACTAAAGACCCTGAATGAATTTGCAGATTACCCATGTGCACAGTGGGGACCTGGCCAGTGAGCACTCG CAAGGGGACTCTTCCAACTTGTTCATACAATATAAAAGAAGCTATTTTTTTAACAAATGGTTTATACAGTCTGGCTGTGCTGCATTGTTT TGAGTGTACCGAAAAATCTGTGTGGGGTGTTTAATTTTTATACTTTTCAACACCCCATTTTACTTGTTGCTTTGTCAGAGAAATAAGGGA GGTATCTACTCAGAGTATTTTGGTCATTATACTTTCTGTGTTTACTTCAACATGTGTCACGTGGCCAGCGGCTTTTTCTTCTCTTCCCTC TGCACCTACCTGCACCTTCTCTGCCTTTCCTGGAGGGGATGTATTTATGTTATTTATTCCCAGTGTTTCTGCTTTCATGTCCTCCTCAGT GGAGAGATTTGGAAACTCATCATGTGGATTCACCAGCCAGCTGCTGGAATTGCCTGAAGAGCGATTTGTTTGTAATGTCTGCCTCATTCA CGTTCTTATGAAGTAGAAAAGACTGTGTTTCTGCCTCAGTTGCCTCTGTCTTTCCCACATTAAAAAAAAAAATGCTGTGAGAAAGCTGCT CCCAACCATGGTTATCACAGAAGTAGATTATTTTAACTCAGAGCTTCAACGATCAGTGCCTGGATCATTTAGAATTCAGTTGGAGCCTCC TGAGCCTCTTGTTTTAGCTTTTTTGACGCAGCTCTCCCTCACTCGTAACAATGAAAACAAATGACACACACACAAAATCCTACATCAGCG GCCCTCAACCTTGTTGGCAGCAGGGACCGGTTTCAAAATGAAACTGTTCCACCTCGGATCAGCAGGCATTAGCTTCTCATAAGGAGCACG CAACCTAAATCCCTCGCATGCGCAGTTCACAATAGAGTTTCTGCTCCTGTGAGAATCTGACGCCACCGCTGATCTGATGGGAGGCGGAGC CCAGGCAGTAACACTTGCTTGCCCACTGCTCACGTCTGATGGGTGCCCCCATTCCTCACAGGCTATGGACCAGTACCCATCTGCAGCCCA GGGTTGGGGACCCCCACCATACATGCTCTGAAAATAAGTGTCTTTAAGTTGTGTTTTTCTGTGTGACATCATCTCTGAACTTGAACATGT TCATTACGGCAAGATTGTAATCCTGCTGTATTCCTCGCCCTCTGTATTCTATCCCTTTAAAAACTAGATATTTAAACATTTTATCCTAAT GTGTTTCATCAGAACACTTTGCACACTTTCTTACTAAAACGGTATGTGGGTGGTCCGAGACAGAATGGTACCTACAGTGCAGGCTATGTT TCTGTGGGAATGGAAAAGAGGACTTTAGAAAGTGAACCTGAAGAACTCTTATTTCTAAGGGAATCCAGTCAAGCTTGAGAAAATGAAATA TTCTTGTGTGTAGTGATTCAGCTCAGGATATTGAAGTCCCTTTTAAAAATCTTATTTTCACCTGTAAAAATAGAATAAAAATTAATGGCA AGCCTGCGCCAGGTGCCTGCCCCTCCTAAGCACTTTACACGCACAGCTCATTCAACCTCACGTGTCGGGAGCATCAGGGAGCTCACCAGT CTCTTGAGGATCACAGGCCAATTGCTTGTCCTTCCCGACCCAAGCCCCACCCCACAGTGTCTTGCTCTCTTCTGATTTTACAGGTTTTTT GGCAGTAATACACATGGGAGTGAAATTGAAATCCTCCCTATTATTTTCCCTCTTTTCCTGGAAAGCCGTTTTTTGCCCTCACAATCATTC ATTACTTCTCTAACTAGGGGGAAGTACTACAAGCTGTCCTCAGGTACTGCCCCTACGTGTGTTTCCCTGGGATGGGGCCTTGCTAGAGGT GATTCTGCTGCCCCAGCATTGGGAAGCAGGACCAGTGCATGTGCCCCATGCAGCCACGGTACATGGAAGCTGTCACTTGAGCCATCAGAC CGGCTCAGCCCATGTGACCGGAGCTCTGAAGAGGCACACACGCATGCCCCGCACAGGCTGTTAGCACTTGTCGCCTCGCTGCCCTGGTCC AGACTACCCTTGCTTGCGTCAGTCAAAACTGTTGTAACTACTTTGAGTCTTTTCTGCATGATTGCTCTTTGAGAGAACTTTAACAAGGGA ATTAAATTTAAAATATTCAAATA >15421_15421_1_CDKN2D-WDFY2_CDKN2D_chr19_10679188_ENST00000335766_WDFY2_chr13_52249305_ENST00000298125_length(amino acids)=407AA_BP=75 MAAASAAAAAQAQSRPRPARRREGRQCRHAAGGGSRRRPAEWGGGPGRRAGGAPPSAPGAGASRRPQPLRQDGAAAPCSCMSFNPETRRL SIGLDNGTISEFILSEDYNKMTPVKNYQAHQSRVTMILFVLELEWVLSTGQDKQFAWHCSESGQRLGGYRTSAVASGLQFDVETRHVFIG DHSGQVTILKLEQENCTLVTTFRGHTGGVTALCWDPVQRVLFSGSSDHSVIMWDIGGRKGTAIELQGHNDRVQALSYAQHTRQLISCGGD GGIVVWNMDVERQETPEWLDSDSCQKCDQPFFWNFKQMWDSKKIGLRQHHCRKCGKAVCGKCSSKRSSIPLMGFEFEVRVCDSCHEAITD EERAPTATFHDSKHNIVHVHFDATRGWLLTSGTDKVIKLWDMTPVVS -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CDKN2D-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 |
| - 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 CDKN2D-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 CDKN2D-WDFY2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDKN2D | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Hgene | CDKN2D | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | CDKN2D | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
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