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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:PTCHD4-CD2AP (FusionGDB2 ID:69882) |
Fusion Gene Summary for PTCHD4-CD2AP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTCHD4-CD2AP | Fusion gene ID: 69882 | Hgene | Tgene | Gene symbol | PTCHD4 | CD2AP | Gene ID | 442213 | 23607 |
| Gene name | patched domain containing 4 | CD2 associated protein | |
| Synonyms | C6orf138|PTCH53|dJ402H5.2 | CMS | |
| Cytomap | 6p12.3 | 6p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | patched domain-containing protein 4p53-regulated patched proteinpatched domain-containing protein C6orf138 | CD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domains | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q6ZW05 | Q9Y5K6 | |
| Ensembl transtripts involved in fusion gene | ENST00000339488, ENST00000543600, | ENST00000486693, ENST00000359314, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 12 X 12 X 8=1152 |
| # samples | 2 | 14 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(14/1152*10)=-3.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PTCHD4 [Title/Abstract] AND CD2AP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PTCHD4(47976370)-CD2AP(47471016), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 breakpoints across PTCHD4 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CD2AP (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | KIRC | TCGA-A3-3313-01A | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
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Fusion Gene ORF analysis for PTCHD4-CD2AP |
| 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 | ENST00000339488 | ENST00000486693 | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
| 5CDS-intron | ENST00000543600 | ENST00000486693 | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
| In-frame | ENST00000339488 | ENST00000359314 | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
| In-frame | ENST00000543600 | ENST00000359314 | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
| 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) |
| ENST00000339488 | PTCHD4 | chr6 | 47976370 | - | ENST00000359314 | CD2AP | chr6 | 47471016 | + | 5893 | 941 | 34 | 2856 | 940 |
| ENST00000543600 | PTCHD4 | chr6 | 47976370 | - | ENST00000359314 | CD2AP | chr6 | 47471016 | + | 5848 | 896 | 40 | 2811 | 923 |
| 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 |
| ENST00000339488 | ENST00000359314 | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + | 0.000193433 | 0.9998066 |
| ENST00000543600 | ENST00000359314 | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + | 0.000106482 | 0.99989355 |
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Fusion Genomic Features for PTCHD4-CD2AP |
| 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) |
| PTCHD4 | chr6 | 47976369 | - | CD2AP | chr6 | 47471015 | + | 3.64E-13 | 1 |
| PTCHD4 | chr6 | 47976369 | - | CD2AP | chr6 | 47471015 | + | 3.64E-13 | 1 |
| 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. |
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| 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 PTCHD4-CD2AP |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:47976370/chr6:47471016) - 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 |
| PTCHD4 | CD2AP |
| FUNCTION: Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells. {ECO:0000269|PubMed:25296753}. | FUNCTION: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8, ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567, ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}. |
| 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 | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 230_250 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 265_285 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 41_61 | 302 | 847.0 | Transmembrane | Helical |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 577_638 | 1 | 640.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 336_422 | 1 | 640.0 | Compositional bias | Note=Pro-rich | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 108_167 | 1 | 640.0 | Domain | SH3 2 | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 1_59 | 1 | 640.0 | Domain | SH3 1%3B truncated | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 269_330 | 1 | 640.0 | Domain | SH3 3 | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 336_352 | 1 | 640.0 | Motif | SH3-binding | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 378_397 | 1 | 640.0 | Motif | SH3-binding | |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 410_422 | 1 | 640.0 | Motif | SH3-binding |
| - 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 | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 233_392 | 302 | 847.0 | Domain | SSD |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 293_313 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 336_356 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 373_393 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 465_485 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 660_680 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 686_706 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 718_738 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 765_785 | 302 | 847.0 | Transmembrane | Helical |
| Hgene | PTCHD4 | chr6:47976370 | chr6:47471016 | ENST00000339488 | - | 2 | 3 | 787_807 | 302 | 847.0 | Transmembrane | Helical |
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Fusion Gene Sequence for PTCHD4-CD2AP |
| 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. |
| >69882_69882_1_PTCHD4-CD2AP_PTCHD4_chr6_47976370_ENST00000339488_CD2AP_chr6_47471016_ENST00000359314_length(transcript)=5893nt_BP=941nt GAGAACGGGGTAGCCCGGCGCTTACACATGTCACATGTGCTTTTTAAGACGGCCGGGAGCGCCTGCGAGCTGGATCTGGTGGAGGATGCT GCGGCAGGTGCTTCGCAGAGGGCTCCAGTCGTTCTGCCACAGGCTGGGTTTGTGCGTGAGCCGGCACCCGGTCTTTTTCCTCACCGTGCC CGCAGTCCTGACAATCACCTTCGGCCTCAGCGCGCTCAACCGCTTCCAGCCCGAGGGCGACCTGGAGCGCCTGGTCGCTCCCAGCCACAG CCTGGCCAAGATCGAGCGCAGCCTGGCCAGCAGCCTTTTCCCCCTGGACCAGTCCAAAAGCCAGCTCTATTCGGACTTACACACCCCTGG GAGGTATGGCAGGGTGATCCTCCTCTCCCCAACCGGGGACAATATTTTGCTCCAGGCTGAGGGGATCCTGCAGACCCACCGAGCCGTGCT GGAAATGAAGGATGGGAGGAACAGTTTTATTGGACACCAACTGGGCGGGGTAGTGGAAGTGCCAAACAGCAAAGATCAGCGGGTCAAGTC AGCCAGAGCCATTCAAATCACCTACTACCTCCAGACCTATGGCTCTGCCACCCAAGACCTCATAGGGGAGAAGTGGGAGAATGAGTTCTG TAAGCTTATAAGGAAGCTCCAGGAGGAGCATCAAGAACTCCAGCTCTACTCTTTAGCATCCTTTAGCCTCTGGAGGGACTTTCATAAGAC CAGCATCCTGGCCAGAAGCAAGGTCCTGGTGAGCCTCGTGCTGATCCTGACCACAGCCACCCTCTCCAGCTCCATGAAGGACTGCTTGCG CAGTAAGCCCTTCCTGGGCCTCCTGGGGGTGCTCACAGTATGCATCTCCATCATCACAGCAGCAGGGATCTTCTTCATCACCGATGGAAA GTACAACTCCACCCTGCTGGGAATCCCGTTCTTCGCCATGGTTGACTATATTGTGGAGTATGACTATGATGCTGTACATGATGATGAATT AACTATTCGAGTTGGAGAAATCATCAGGAATGTGAAAAAGCTACAGGAGGAAGGGTGGCTGGAAGGAGAACTAAATGGGAGAAGAGGAAT GTTCCCTGACAATTTCGTTAAGGAAATTAAAAGAGAGACGGAATTCAAGGATGACAGTTTGCCCATCAAACGGGAAAGGCATGGGAATGT AGCAAGTCTTGTACAACGAATAAGCACCTATGGACTTCCAGCTGGAGGAATTCAGCCACATCCACAAACCAAAAACATTAAGAAGAAGAC CAAGAAGCGTCAGTGTAAAGTTCTTTTTGAGTACATTCCACAAAATGAGGATGAACTGGAGCTGAAAGTGGGAGATATTATTGATATTAA TGAAGAGGTAGAAGAAGGCTGGTGGAGTGGAACCCTGAATAACAAGTTGGGACTGTTTCCCTCAAATTTTGTGAAAGAATTAGAGGTAAC AGATGATGGTGAAACTCATGAAGCCCAGGACGATTCAGAAACTGTTTTGGCTGGGCCTACTTCACCTATACCTTCTCTGGGAAATGTGAG TGAAACTGCATCTGGATCAGTTACACAGCCAAAGAAAATTCGAGGAATTGGATTTGGAGACATTTTTAAAGAAGGCTCTGTGAAACTTCG GACAAGAACATCCAGTAGTGAAACAGAAGAGAAAAAACCAGAAAAGCCCTTAATCCTACAGTCACTGGGACCCAAAACTCAGAGTGTGGA GATAACAAAAACAGATACCGAAGGTAAAATTAAAGCTAAAGAATATTGTAGAACATTATTTGCCTATGAAGGTACTAATGAAGATGAACT TACTTTTAAAGAGGGGGAGATAATCCATTTGATAAGTAAGGAGACTGGAGAAGCTGGCTGGTGGAGGGGCGAACTTAATGGTAAAGAAGG AGTATTTCCAGACAATTTTGCTGTCCAGATAAATGAACTTGATAAAGACTTTCCAAAACCAAAGAAACCACCACCTCCTGCTAAGGCTCC AGCTCCAAAGCCTGAACTGATAGCTGCAGAGAAGAAATATTTTTCTTTAAAGCCTGAAGAAAAGGATGAAAAATCAACACTGGAACAGAA ACCTTCTAAACCAGCAGCTCCACAAGTCCCACCCAAGAAACCTACTCCACCTACCAAAGCCAGTAATTTACTGAGATCTTCTGGAACAGT GTACCCAAAGCGACCTGAAAAACCAGTTCCTCCACCACCTCCTATAGCCAAGATTAATGGGGAAGTTTCTAGCATTTCATCAAAATTTGA AACTGAGCCAGTATCAAAACTAAAGCTAGATTCTGAACAGCTGCCCCTTAGACCAAAATCAGTAGACTTTGATTCACTTACAGTAAGGAC CTCCAAAGAAACAGATGTTGTAAATTTTGATGACATAGCTTCCTCAGAAAACTTGCTTCATCTCACTGCAAATAGACCAAAGATGCCTGG AAGAAGGTTGCCGGGCCGTTTCAATGGTGGACATTCTCCAACTCACAGCCCCGAAAAAATCTTGAAGTTACCAAAAGAAGAAGACAGTGC CAACCTGAAGCCATCTGAATTAAAAAAAGATACATGCTACTCTCCAAAGCCATCTGTGTACCTTTCAACACCTTCCAGTGCTTCTAAAGC AAATACAACTGCTTTCCTGACTCCATTAGAAATCAAAGCTAAAGTGGAAACAGATGATGTGAAAAAAAATTCCCTGGATGAACTTAGAGC CCAGATTATTGAATTGTTGTGCATTGTAGAAGCACTGAAAAAGGATCACGGGAAAGAACTGGAAAAACTGCGAAAAGATTTGGAAGAAGA GAAGACAATGAGAAGTAATCTAGAGATGGAAATAGAGAAGCTGAAAAAAGCTGTCCTGTCTTCTTGAGTGGTGTGGACCTGGTGTTCATA ATGTTCCAGGGATTCAGAAGCAACGCTATGAACTTCAGCTGACTTGTTACTTAAAAATTGTGAATTCTGTTGTTGTGATAAATATGAGCA AATGAAGTGTAATATCTATAGAAAAGTAGAGTGAGGGTGAATTTATATATATATTTTGTTTTGCCAATATGAAGAAAAAGAGGCCTTATT TCTTAACTGTGCTGGGATTGCAAACACTTTTTAAAAAATTGTTTGCTTGAAAATACTACTGAATATAAATAAGAATGTGCACAGTAGTTT TTTTATTGAAACTTGTATTATTTTTAAAGAGATCTATACTATAAATATGGTGATATATTTACAAGTAATCTGTTAAGATATACTATTTGA GAGGGACAGATTAGCCTTTTAGTAACTATAGTCACTACTTTTTCCATAATGCATAAGGGATATAAACTCTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATTTTTACTTTTATCCTCTTACCGAAGGTTACACTGTTGTGCCTGTTTGTCTGC AATGCTGTTTATATTTTGGGTGATGAAATAGGAGTTTCCTAGCTATATAAACCAGATTACTCACCCATGCATATAGTAAGAACTAATGAA TAATCAAAATAATTTCATCAACTTTTAGAATATTTTATGTTGCTTGCACTATAGGAGTCATAAAAGGAACTTAGTTAAAATATGTTGGAT TGTTAAACATTTGGGGAAATATGAACTGTATTTTAAATTTGTTAGGTCTGAAGAATCTAAAACTGTTAATTTAACCCTTAACTTGTGCCT AGAAACTACAGCACATATAAAATATGTAAACACCAGCCTGTTGCTGTACTTTTCTGCTTATTTTACAGCCTCAAATATTTCTCATTATCT TGTCACTTAGTTCTTCATGTTTCTCCTTCTGACTTTTAATAATGGTAATAGGAAAACAAAACCCAAAGCTTTTCAGAACTTCAGTGTGAG GTTTCCTATTTTGACAAGTTAACTTGTAAATACTCAGGTTTTACGATGTATAATTTACCTAATAGACCAAACTAACTCATGGAGATATTT TGAACTATTATTTAGGTACAAACTTTATAAAGAATGTTAGTATGTCATAAAATATAACATTACAGCTTATTTAAAACCAAATATAGTTGA ACATATTTAAAATACATTTTCACAGAATGGATGAATTAGTTGTTTCTTCAGAGTTACTTATGAACAGTTGAATGCTTTAAAATGTTCTGT CTGTAGGTAACATCTAAAACACAAGTGGGTTTATTTAAATTTTTAAAATTTGAAATTTTTTATTTGCAAAAAATTGTTTTATGCTTTATT ATATCGCAAATGAGTGTCAGATTTTTGAGTACCAATGATCATGCTTCCATTTTTTTTAGTTTTAAACCACCAAACCAATATTTTTCCTTT AAATTTTAATCTTATAATATAGAAATCTTATGTAAATGAAATTTTGTCATGTTTCAAATAAAGAGAACTGAAGTAGAAAATAGAAATGCC AGTAAACAACATAATGTTTAATTTACAACTTACATTAGGGGTTTGGGGGAATGCTAATTATATATTGAGAATATACATTAGAACTCTTCA AAATGGGCTCTTCTAATGAGGTCACTACTGAACAAAATTGTTCCCTCTTCTGTTAAATAGAATAGGTTTAAATGACTAGTCAAATGAATT ATTTTCTTCTTGTTAAATAAATTAAATCTTACTTTCTTTTAATGACCAACCTTAGGTAAAACAAAAATATTGTAATCCTAGAAATTATCC TCCAGCTTTCTCACCTGAAAATCTATTGAAGTGATCCCTGGTCATCCTAATAATGGGATGAGGGAAGTTTCCAGCAGATTTCAGGCTGTT CTTAAAGTTTTTGTTGGTCATTTTCTCAATAGTACATGAAATCAAGATGCTTATGAGCATGGAAATGTATTTAAAGTTTTTGCTTGTGTC CTCCTCAGTCAGAATAGAAAAGTAACTGAAATACTTTTACCTTTCTGTCCTTGATAAAATAGTAAAGAAAACCAAACAAACCCAGGCCTG ATGGGAAAAATGATTCCTTTATTCTAGCAACTTACTTTCTGTTGGTATGGGAAATGTTATTAATTTCTATTACTAAAGTTCATATCACAA AATGATATTTAATAATAACCTTGGGGTAAATCATGAATTTTTTTTCTACGTGTGAGTATAAAAGACAAAAGTTGAACAGCATGGAATCTC ATTGCCAAATTATTAGTGAATGTATAGTTCAGGTATTCTTTGAGACACACAGTATCATTAATTTCTGAATTGTATTTCAGTGTTATTTTT TGTTTGTGACCACTAAGCTTCTGTCTTAATACAAAGCTGTTACCTTCTACAGAATTTAAGTCTGAAGATGTAAAGAGAGAACAGGCCTTG TGTAACAGAAGATACTCTTTTTTATGCTCCTTACTGTGATCACAGAAAAATTAAAAATCCAAGTGCTCTCTAGATTTGTTGATAAACATT TTATGCTTGCATTTAAACTTGAAATGTATGAGCAGAATGAGACAATCAGTTAAATCAGAAATGAGAAGTATTATAATGTAAAGGCCTTGT TTTGCTGTAGCAATAAAATGACCAAGTGCAATGACTTGATTTAATAAAATCATATTTTAAAAGTTGCTGCTATGAATATTTTTGGCTATA AAATTTTACCCTGACTTGCTTTCAATAACTGTTACGTAATGCAGTTGATGTTGTAACCTAACATTCCAAAAAAAAAATTGAGAGGGGGAA TCTCAAAATAGTATATACTTCACTAACTTGTTTACAGGTGCTGTATTTAAAAGCATGCTTCTCTCTCAAAAAGAAAAATTAAAGGATTTT ATTGCCAGTCGTGTCAGTCTTTATTGGTTATTTTTTGTTAACTTTAGCATTTGTGTATTTCAGAGTATGATGAAAATTATATTACTTCAA >69882_69882_1_PTCHD4-CD2AP_PTCHD4_chr6_47976370_ENST00000339488_CD2AP_chr6_47471016_ENST00000359314_length(amino acids)=940AA_BP=302 MCFLRRPGAPASWIWWRMLRQVLRRGLQSFCHRLGLCVSRHPVFFLTVPAVLTITFGLSALNRFQPEGDLERLVAPSHSLAKIERSLASS LFPLDQSKSQLYSDLHTPGRYGRVILLSPTGDNILLQAEGILQTHRAVLEMKDGRNSFIGHQLGGVVEVPNSKDQRVKSARAIQITYYLQ TYGSATQDLIGEKWENEFCKLIRKLQEEHQELQLYSLASFSLWRDFHKTSILARSKVLVSLVLILTTATLSSSMKDCLRSKPFLGLLGVL TVCISIITAAGIFFITDGKYNSTLLGIPFFAMVDYIVEYDYDAVHDDELTIRVGEIIRNVKKLQEEGWLEGELNGRRGMFPDNFVKEIKR ETEFKDDSLPIKRERHGNVASLVQRISTYGLPAGGIQPHPQTKNIKKKTKKRQCKVLFEYIPQNEDELELKVGDIIDINEEVEEGWWSGT LNNKLGLFPSNFVKELEVTDDGETHEAQDDSETVLAGPTSPIPSLGNVSETASGSVTQPKKIRGIGFGDIFKEGSVKLRTRTSSSETEEK KPEKPLILQSLGPKTQSVEITKTDTEGKIKAKEYCRTLFAYEGTNEDELTFKEGEIIHLISKETGEAGWWRGELNGKEGVFPDNFAVQIN ELDKDFPKPKKPPPPAKAPAPKPELIAAEKKYFSLKPEEKDEKSTLEQKPSKPAAPQVPPKKPTPPTKASNLLRSSGTVYPKRPEKPVPP PPPIAKINGEVSSISSKFETEPVSKLKLDSEQLPLRPKSVDFDSLTVRTSKETDVVNFDDIASSENLLHLTANRPKMPGRRLPGRFNGGH SPTHSPEKILKLPKEEDSANLKPSELKKDTCYSPKPSVYLSTPSSASKANTTAFLTPLEIKAKVETDDVKKNSLDELRAQIIELLCIVEA -------------------------------------------------------------- >69882_69882_2_PTCHD4-CD2AP_PTCHD4_chr6_47976370_ENST00000543600_CD2AP_chr6_47471016_ENST00000359314_length(transcript)=5848nt_BP=896nt AAGACGGCCGGGAGCGCCTGCGAGCTGGATCTGGTGGAGGATGCTGCGGCAGGTGCTTCGCAGAGGGCTCCAGTCGTTCTGCCACAGGCT GGGTTTGTGCGTGAGCCGGCACCCGGTCTTTTTCCTCACCGTGCCCGCAGTCCTGACAATCACCTTCGGCCTCAGCGCGCTCAACCGCTT CCAGCCCGAGGGCGACCTGGAGCGCCTGGTCGCTCCCAGCCACAGCCTGGCCAAGATCGAGCGCAGCCTGGCCAGCAGCCTTTTCCCCCT GGACCAGTCCAAAAGCCAGCTCTATTCGGACTTACACACCCCTGGGAGGTATGGCAGGGTGATCCTCCTCTCCCCAACCGGGGACAATAT TTTGCTCCAGGCTGAGGGGATCCTGCAGACCCACCGAGCCGTGCTGGAAATGAAGGATGGGAGGAACAGTTTTATTGGACACCAACTGGG CGGGGTAGTGGAAGTGCCAAACAGCAAAGATCAGCGGGTCAAGTCAGCCAGAGCCATTCAAATCACCTACTACCTCCAGACCTATGGCTC TGCCACCCAAGACCTCATAGGGGAGAAGTGGGAGAATGAGTTCTGTAAGCTTATAAGGAAGCTCCAGGAGGAGCATCAAGAACTCCAGCT CTACTCTTTAGCATCCTTTAGCCTCTGGAGGGACTTTCATAAGACCAGCATCCTGGCCAGAAGCAAGGTCCTGGTGAGCCTCGTGCTGAT CCTGACCACAGCCACCCTCTCCAGCTCCATGAAGGACTGCTTGCGCAGTAAGCCCTTCCTGGGCCTCCTGGGGGTGCTCACAGTATGCAT CTCCATCATCACAGCAGCAGGGATCTTCTTCATCACCGATGGAAAGTACAACTCCACCCTGCTGGGAATCCCGTTCTTCGCCATGGTTGA CTATATTGTGGAGTATGACTATGATGCTGTACATGATGATGAATTAACTATTCGAGTTGGAGAAATCATCAGGAATGTGAAAAAGCTACA GGAGGAAGGGTGGCTGGAAGGAGAACTAAATGGGAGAAGAGGAATGTTCCCTGACAATTTCGTTAAGGAAATTAAAAGAGAGACGGAATT CAAGGATGACAGTTTGCCCATCAAACGGGAAAGGCATGGGAATGTAGCAAGTCTTGTACAACGAATAAGCACCTATGGACTTCCAGCTGG AGGAATTCAGCCACATCCACAAACCAAAAACATTAAGAAGAAGACCAAGAAGCGTCAGTGTAAAGTTCTTTTTGAGTACATTCCACAAAA TGAGGATGAACTGGAGCTGAAAGTGGGAGATATTATTGATATTAATGAAGAGGTAGAAGAAGGCTGGTGGAGTGGAACCCTGAATAACAA GTTGGGACTGTTTCCCTCAAATTTTGTGAAAGAATTAGAGGTAACAGATGATGGTGAAACTCATGAAGCCCAGGACGATTCAGAAACTGT TTTGGCTGGGCCTACTTCACCTATACCTTCTCTGGGAAATGTGAGTGAAACTGCATCTGGATCAGTTACACAGCCAAAGAAAATTCGAGG AATTGGATTTGGAGACATTTTTAAAGAAGGCTCTGTGAAACTTCGGACAAGAACATCCAGTAGTGAAACAGAAGAGAAAAAACCAGAAAA GCCCTTAATCCTACAGTCACTGGGACCCAAAACTCAGAGTGTGGAGATAACAAAAACAGATACCGAAGGTAAAATTAAAGCTAAAGAATA TTGTAGAACATTATTTGCCTATGAAGGTACTAATGAAGATGAACTTACTTTTAAAGAGGGGGAGATAATCCATTTGATAAGTAAGGAGAC TGGAGAAGCTGGCTGGTGGAGGGGCGAACTTAATGGTAAAGAAGGAGTATTTCCAGACAATTTTGCTGTCCAGATAAATGAACTTGATAA AGACTTTCCAAAACCAAAGAAACCACCACCTCCTGCTAAGGCTCCAGCTCCAAAGCCTGAACTGATAGCTGCAGAGAAGAAATATTTTTC TTTAAAGCCTGAAGAAAAGGATGAAAAATCAACACTGGAACAGAAACCTTCTAAACCAGCAGCTCCACAAGTCCCACCCAAGAAACCTAC TCCACCTACCAAAGCCAGTAATTTACTGAGATCTTCTGGAACAGTGTACCCAAAGCGACCTGAAAAACCAGTTCCTCCACCACCTCCTAT AGCCAAGATTAATGGGGAAGTTTCTAGCATTTCATCAAAATTTGAAACTGAGCCAGTATCAAAACTAAAGCTAGATTCTGAACAGCTGCC CCTTAGACCAAAATCAGTAGACTTTGATTCACTTACAGTAAGGACCTCCAAAGAAACAGATGTTGTAAATTTTGATGACATAGCTTCCTC AGAAAACTTGCTTCATCTCACTGCAAATAGACCAAAGATGCCTGGAAGAAGGTTGCCGGGCCGTTTCAATGGTGGACATTCTCCAACTCA CAGCCCCGAAAAAATCTTGAAGTTACCAAAAGAAGAAGACAGTGCCAACCTGAAGCCATCTGAATTAAAAAAAGATACATGCTACTCTCC AAAGCCATCTGTGTACCTTTCAACACCTTCCAGTGCTTCTAAAGCAAATACAACTGCTTTCCTGACTCCATTAGAAATCAAAGCTAAAGT GGAAACAGATGATGTGAAAAAAAATTCCCTGGATGAACTTAGAGCCCAGATTATTGAATTGTTGTGCATTGTAGAAGCACTGAAAAAGGA TCACGGGAAAGAACTGGAAAAACTGCGAAAAGATTTGGAAGAAGAGAAGACAATGAGAAGTAATCTAGAGATGGAAATAGAGAAGCTGAA AAAAGCTGTCCTGTCTTCTTGAGTGGTGTGGACCTGGTGTTCATAATGTTCCAGGGATTCAGAAGCAACGCTATGAACTTCAGCTGACTT GTTACTTAAAAATTGTGAATTCTGTTGTTGTGATAAATATGAGCAAATGAAGTGTAATATCTATAGAAAAGTAGAGTGAGGGTGAATTTA TATATATATTTTGTTTTGCCAATATGAAGAAAAAGAGGCCTTATTTCTTAACTGTGCTGGGATTGCAAACACTTTTTAAAAAATTGTTTG CTTGAAAATACTACTGAATATAAATAAGAATGTGCACAGTAGTTTTTTTATTGAAACTTGTATTATTTTTAAAGAGATCTATACTATAAA TATGGTGATATATTTACAAGTAATCTGTTAAGATATACTATTTGAGAGGGACAGATTAGCCTTTTAGTAACTATAGTCACTACTTTTTCC ATAATGCATAAGGGATATAAACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATTTTTACT TTTATCCTCTTACCGAAGGTTACACTGTTGTGCCTGTTTGTCTGCAATGCTGTTTATATTTTGGGTGATGAAATAGGAGTTTCCTAGCTA TATAAACCAGATTACTCACCCATGCATATAGTAAGAACTAATGAATAATCAAAATAATTTCATCAACTTTTAGAATATTTTATGTTGCTT GCACTATAGGAGTCATAAAAGGAACTTAGTTAAAATATGTTGGATTGTTAAACATTTGGGGAAATATGAACTGTATTTTAAATTTGTTAG GTCTGAAGAATCTAAAACTGTTAATTTAACCCTTAACTTGTGCCTAGAAACTACAGCACATATAAAATATGTAAACACCAGCCTGTTGCT GTACTTTTCTGCTTATTTTACAGCCTCAAATATTTCTCATTATCTTGTCACTTAGTTCTTCATGTTTCTCCTTCTGACTTTTAATAATGG TAATAGGAAAACAAAACCCAAAGCTTTTCAGAACTTCAGTGTGAGGTTTCCTATTTTGACAAGTTAACTTGTAAATACTCAGGTTTTACG ATGTATAATTTACCTAATAGACCAAACTAACTCATGGAGATATTTTGAACTATTATTTAGGTACAAACTTTATAAAGAATGTTAGTATGT CATAAAATATAACATTACAGCTTATTTAAAACCAAATATAGTTGAACATATTTAAAATACATTTTCACAGAATGGATGAATTAGTTGTTT CTTCAGAGTTACTTATGAACAGTTGAATGCTTTAAAATGTTCTGTCTGTAGGTAACATCTAAAACACAAGTGGGTTTATTTAAATTTTTA AAATTTGAAATTTTTTATTTGCAAAAAATTGTTTTATGCTTTATTATATCGCAAATGAGTGTCAGATTTTTGAGTACCAATGATCATGCT TCCATTTTTTTTAGTTTTAAACCACCAAACCAATATTTTTCCTTTAAATTTTAATCTTATAATATAGAAATCTTATGTAAATGAAATTTT GTCATGTTTCAAATAAAGAGAACTGAAGTAGAAAATAGAAATGCCAGTAAACAACATAATGTTTAATTTACAACTTACATTAGGGGTTTG GGGGAATGCTAATTATATATTGAGAATATACATTAGAACTCTTCAAAATGGGCTCTTCTAATGAGGTCACTACTGAACAAAATTGTTCCC TCTTCTGTTAAATAGAATAGGTTTAAATGACTAGTCAAATGAATTATTTTCTTCTTGTTAAATAAATTAAATCTTACTTTCTTTTAATGA CCAACCTTAGGTAAAACAAAAATATTGTAATCCTAGAAATTATCCTCCAGCTTTCTCACCTGAAAATCTATTGAAGTGATCCCTGGTCAT CCTAATAATGGGATGAGGGAAGTTTCCAGCAGATTTCAGGCTGTTCTTAAAGTTTTTGTTGGTCATTTTCTCAATAGTACATGAAATCAA GATGCTTATGAGCATGGAAATGTATTTAAAGTTTTTGCTTGTGTCCTCCTCAGTCAGAATAGAAAAGTAACTGAAATACTTTTACCTTTC TGTCCTTGATAAAATAGTAAAGAAAACCAAACAAACCCAGGCCTGATGGGAAAAATGATTCCTTTATTCTAGCAACTTACTTTCTGTTGG TATGGGAAATGTTATTAATTTCTATTACTAAAGTTCATATCACAAAATGATATTTAATAATAACCTTGGGGTAAATCATGAATTTTTTTT CTACGTGTGAGTATAAAAGACAAAAGTTGAACAGCATGGAATCTCATTGCCAAATTATTAGTGAATGTATAGTTCAGGTATTCTTTGAGA CACACAGTATCATTAATTTCTGAATTGTATTTCAGTGTTATTTTTTGTTTGTGACCACTAAGCTTCTGTCTTAATACAAAGCTGTTACCT TCTACAGAATTTAAGTCTGAAGATGTAAAGAGAGAACAGGCCTTGTGTAACAGAAGATACTCTTTTTTATGCTCCTTACTGTGATCACAG AAAAATTAAAAATCCAAGTGCTCTCTAGATTTGTTGATAAACATTTTATGCTTGCATTTAAACTTGAAATGTATGAGCAGAATGAGACAA TCAGTTAAATCAGAAATGAGAAGTATTATAATGTAAAGGCCTTGTTTTGCTGTAGCAATAAAATGACCAAGTGCAATGACTTGATTTAAT AAAATCATATTTTAAAAGTTGCTGCTATGAATATTTTTGGCTATAAAATTTTACCCTGACTTGCTTTCAATAACTGTTACGTAATGCAGT TGATGTTGTAACCTAACATTCCAAAAAAAAAATTGAGAGGGGGAATCTCAAAATAGTATATACTTCACTAACTTGTTTACAGGTGCTGTA TTTAAAAGCATGCTTCTCTCTCAAAAAGAAAAATTAAAGGATTTTATTGCCAGTCGTGTCAGTCTTTATTGGTTATTTTTTGTTAACTTT >69882_69882_2_PTCHD4-CD2AP_PTCHD4_chr6_47976370_ENST00000543600_CD2AP_chr6_47471016_ENST00000359314_length(amino acids)=923AA_BP=285 MLRQVLRRGLQSFCHRLGLCVSRHPVFFLTVPAVLTITFGLSALNRFQPEGDLERLVAPSHSLAKIERSLASSLFPLDQSKSQLYSDLHT PGRYGRVILLSPTGDNILLQAEGILQTHRAVLEMKDGRNSFIGHQLGGVVEVPNSKDQRVKSARAIQITYYLQTYGSATQDLIGEKWENE FCKLIRKLQEEHQELQLYSLASFSLWRDFHKTSILARSKVLVSLVLILTTATLSSSMKDCLRSKPFLGLLGVLTVCISIITAAGIFFITD GKYNSTLLGIPFFAMVDYIVEYDYDAVHDDELTIRVGEIIRNVKKLQEEGWLEGELNGRRGMFPDNFVKEIKRETEFKDDSLPIKRERHG NVASLVQRISTYGLPAGGIQPHPQTKNIKKKTKKRQCKVLFEYIPQNEDELELKVGDIIDINEEVEEGWWSGTLNNKLGLFPSNFVKELE VTDDGETHEAQDDSETVLAGPTSPIPSLGNVSETASGSVTQPKKIRGIGFGDIFKEGSVKLRTRTSSSETEEKKPEKPLILQSLGPKTQS VEITKTDTEGKIKAKEYCRTLFAYEGTNEDELTFKEGEIIHLISKETGEAGWWRGELNGKEGVFPDNFAVQINELDKDFPKPKKPPPPAK APAPKPELIAAEKKYFSLKPEEKDEKSTLEQKPSKPAAPQVPPKKPTPPTKASNLLRSSGTVYPKRPEKPVPPPPPIAKINGEVSSISSK FETEPVSKLKLDSEQLPLRPKSVDFDSLTVRTSKETDVVNFDDIASSENLLHLTANRPKMPGRRLPGRFNGGHSPTHSPEKILKLPKEED SANLKPSELKKDTCYSPKPSVYLSTPSSASKANTTAFLTPLEIKAKVETDDVKKNSLDELRAQIIELLCIVEALKKDHGKELEKLRKDLE -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PTCHD4-CD2AP |
| 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 |
| Tgene | CD2AP | chr6:47976370 | chr6:47471016 | ENST00000359314 | 0 | 18 | 1_175 | 1.3333333333333333 | 640.0 | ANLN and localization to the midbody |
| - 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 PTCHD4-CD2AP |
| 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 PTCHD4-CD2AP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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