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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:HG442213TG23607) |
Fusion Gene Summary for PTCHD4-CD2AP |
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Fusion gene information | Fusion gene name: PTCHD4-CD2AP | Fusion gene ID: hg442213tg23607 | 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 | ('C6orf138','PTCHD4')('CD2AP','CD2AP') 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 | . | Q9Y5K6 | |
Ensembl transtripts involved in fusion gene | ENST00000339488, ENST00000543600, | ||
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 | C6orf138(47976370)-CD2AP(47471016), # samples:1 PTCHD4(47976370)-CD2AP(47471016), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | PTCHD4-CD2AP 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. PTCHD4-CD2AP 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. PTCHD4-CD2AP 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. PTCHD4-CD2AP 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. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | C6orf138 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
ChimerDB4 | KIRC | TCGA-A3-3313-01A | PTCHD4 | chr6 | 47976370 | - | CD2AP | chr6 | 47471016 | + |
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Fusion Gene ORF analysis for PTCHD4-CD2AP |
![]() * 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 | + |
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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 |
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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 |
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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 |
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Fusion Protein Features for PTCHD4-CD2AP |
![]() 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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Hgene | Tgene |
. | CD2AP |
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: 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}. |
![]() * 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 |
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>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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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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 |
![]() (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 |
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Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0002395 | Alzheimer's Disease | 3 | CTD_human | |
Tgene | C0011265 | Presenile dementia | 3 | CTD_human | |
Tgene | C0276496 | Familial Alzheimer Disease (FAD) | 3 | CTD_human | |
Tgene | C0494463 | Alzheimer Disease, Late Onset | 3 | CTD_human | |
Tgene | C0546126 | Acute Confusional Senile Dementia | 3 | CTD_human | |
Tgene | C0750900 | Alzheimer's Disease, Focal Onset | 3 | CTD_human | |
Tgene | C0750901 | Alzheimer Disease, Early Onset | 3 | CTD_human | |
Tgene | C1842982 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO | 2 | GENOMICS_ENGLAND | |
Tgene | C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 1 | ORPHANET |