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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:YWHAQ-ADAM17 (FusionGDB2 ID:HG10971TG6868) |
Fusion Gene Summary for YWHAQ-ADAM17 |
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Fusion gene information | Fusion gene name: YWHAQ-ADAM17 | Fusion gene ID: hg10971tg6868 | Hgene | Tgene | Gene symbol | YWHAQ | ADAM17 | Gene ID | 10971 | 6868 |
Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta | ADAM metallopeptidase domain 17 | |
Synonyms | 14-3-3|1C5|HS1 | ADAM18|CD156B|CSVP|NISBD|NISBD1|TACE | |
Cytomap | ('YWHAQ')('ADAM17') 2p25.1 | 2p25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | 14-3-3 protein theta14-3-3 protein T-cell14-3-3 protein tau14-3-3 thetaprotein, thetatyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide | disintegrin and metalloproteinase domain-containing protein 17ADAM metallopeptidase domain 18TNF-alpha convertaseTNF-alpha converting enzymesnake venom-like proteasetumor necrosis factor, alpha, converting enzyme | |
Modification date | 20200327 | 20200320 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000238081, ENST00000381844, ENST00000474715, | ENST00000474715, ENST00000238081, ENST00000381844, | |
Fusion gene scores | * DoF score | 12 X 13 X 5=780 | 4 X 5 X 3=60 |
# samples | 13 | 5 | |
** MAII score | log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: YWHAQ [Title/Abstract] AND ADAM17 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | YWHAQ(9770288)-ADAM17(9650260), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ADAM17-YWHAQ 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. ADAM17-YWHAQ 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. YWHAQ-ADAM17 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. YWHAQ-ADAM17 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. YWHAQ-ADAM17 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. YWHAQ-ADAM17 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. YWHAQ-ADAM17 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. YWHAQ-ADAM17 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | YWHAQ | GO:0045892 | negative regulation of transcription, DNA-templated | 15163635 |
Tgene | ADAM17 | GO:0001666 | response to hypoxia | 18276953 |
Tgene | ADAM17 | GO:0006508 | proteolysis | 24227843 |
Tgene | ADAM17 | GO:0006509 | membrane protein ectodomain proteolysis | 9034190|9574564|17786981|18676862 |
Tgene | ADAM17 | GO:0007155 | cell adhesion | 14970227 |
Tgene | ADAM17 | GO:0007173 | epidermal growth factor receptor signaling pathway | 12743035 |
Tgene | ADAM17 | GO:0007220 | Notch receptor processing | 24226769 |
Tgene | ADAM17 | GO:0032496 | response to lipopolysaccharide | 18383040 |
Tgene | ADAM17 | GO:0033627 | cell adhesion mediated by integrin | 14970227 |
Tgene | ADAM17 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 24813629 |
Tgene | ADAM17 | GO:0045741 | positive regulation of epidermal growth factor-activated receptor activity | 18483258 |
Tgene | ADAM17 | GO:0051088 | PMA-inducible membrane protein ectodomain proteolysis | 14625290|15691827|17010968 |
Tgene | ADAM17 | GO:0071403 | cellular response to high density lipoprotein particle stimulus | 17786981 |
Tgene | ADAM17 | GO:1905564 | positive regulation of vascular endothelial cell proliferation | 24813629 |
![]() * 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 | LUSC | TCGA-18-4086-01A | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
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Fusion Gene ORF analysis for YWHAQ-ADAM17 |
![]() * 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 | ENST00000238081 | ENST00000497134 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
5CDS-intron | ENST00000381844 | ENST00000497134 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
Frame-shift | ENST00000238081 | ENST00000310823 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
In-frame | ENST00000381844 | ENST00000310823 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
intron-3CDS | ENST00000474715 | ENST00000310823 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
intron-intron | ENST00000474715 | ENST00000497134 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - |
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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) |
ENST00000381844 | YWHAQ | chr2 | 9770288 | - | ENST00000310823 | ADAM17 | chr2 | 9650260 | - | 3433 | 458 | 164 | 1741 | 525 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000381844 | ENST00000310823 | YWHAQ | chr2 | 9770288 | - | ADAM17 | chr2 | 9650260 | - | 0.000882988 | 0.99911696 |
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Fusion Genomic Features for YWHAQ-ADAM17 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for YWHAQ-ADAM17 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:9770288/chr2:9650260) - 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 |
. | . |
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: 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}. |
![]() * 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 |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 564_602 | 397 | 825.0 | Compositional bias | Note=Cys-rich | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 475_563 | 397 | 825.0 | Domain | Disintegrin | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 731_738 | 397 | 825.0 | Motif | SH3-binding | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 741_748 | 397 | 825.0 | Motif | SH3-binding | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 603_671 | 397 | 825.0 | Region | Note=Crambin-like | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 693_824 | 397 | 825.0 | Topological domain | Cytoplasmic | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 672_692 | 397 | 825.0 | Transmembrane | Helical |
- 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 |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 96_99 | 397 | 825.0 | Compositional bias | Note=Poly-Val | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 223_474 | 397 | 825.0 | Domain | Peptidase M12B | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 182_189 | 397 | 825.0 | Motif | Cysteine switch | |
Tgene | ADAM17 | chr2:9770288 | chr2:9650260 | ENST00000310823 | 9 | 19 | 215_671 | 397 | 825.0 | Topological domain | Extracellular |
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Fusion Gene Sequence for YWHAQ-ADAM17 |
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>100192_100192_1_YWHAQ-ADAM17_YWHAQ_chr2_9770288_ENST00000381844_ADAM17_chr2_9650260_ENST00000310823_length(transcript)=3433nt_BP=458nt AAAAGCGGGCGGCGGGCCGCATTGTCTGACGGCGCTCCCTCTCTGCTTTTTGTTCTCGCCTCGCCGCCCCGCCCCTCCGCAGCTCTCGAG GCTCCTCCCGCTGCGGGTCGGCGCTCGCCCTCGCTCTCCTCGCCCTCCGCCCCGGCCCCGGCCCCGCGCCCGCCATGGAGAAGACTGAGC TGATCCAGAAGGCCAAGCTGGCCGAGCAGGCCGAGCGCTACGACGACATGGCCACCTGCATGAAGGCAGTGACCGAGCAGGGCGCCGAGC TGTCCAACGAGGAGCGCAACCTGCTCTCCGTGGCCTACAAGAACGTGGTCGGGGGCCGCAGGTCCGCCTGGAGGGTCATCTCTAGCATCG AGCAGAAGACCGACACCTCCGACAAGAAGTTGCAGCTGATTAAGGACTATCGGGAGAAAGTGGAGTCCGAGCTGAGATCCATCTGCACCA CGGTGCTGGAAGCTGACCTGGTTACAACTCATGAATTGGGACATAATTTTGGAGCAGAACATGATCCGGATGGTCTAGCAGAATGTGCCC CGAATGAGGACCAGGGAGGGAAATATGTCATGTATCCCATAGCTGTGAGTGGCGATCACGAGAACAATAAGATGTTTTCAAACTGCAGTA AACAATCAATCTATAAGACCATTGAAAGTAAGGCCCAGGAGTGTTTTCAAGAACGCAGCAATAAAGTTTGTGGGAACTCGAGGGTGGATG AAGGAGAAGAGTGTGATCCTGGCATCATGTATCTGAACAACGACACCTGCTGCAACAGCGACTGCACGTTGAAGGAAGGTGTCCAGTGCA GTGACAGGAACAGTCCTTGCTGTAAAAACTGTCAGTTTGAGACTGCCCAGAAGAAGTGCCAGGAGGCGATTAATGCTACTTGCAAAGGCG TGTCCTACTGCACAGGTAATAGCAGTGAGTGCCCGCCTCCAGGAAATGCTGAAGATGACACTGTTTGCTTGGATCTTGGCAAGTGTAAGG ATGGGAAATGCATCCCTTTCTGCGAGAGGGAACAGCAGCTGGAGTCCTGTGCATGTAATGAAACTGACAACTCCTGCAAGGTGTGCTGCA GGGACCTTTCTGGCCGCTGTGTGCCCTATGTCGATGCTGAACAAAAGAACTTATTTTTGAGGAAAGGAAAGCCCTGTACAGTAGGATTTT GTGACATGAATGGCAAATGTGAGAAACGAGTACAGGATGTAATTGAACGATTTTGGGATTTCATTGACCAGCTGAGCATCAATACTTTTG GAAAGTTTTTAGCAGACAACATCGTTGGGTCTGTCCTGGTTTTCTCCTTGATATTTTGGATTCCTTTCAGCATTCTTGTCCATTGTGTGG ATAAGAAATTGGATAAACAGTATGAATCTCTGTCTCTGTTTCACCCCAGTAACGTCGAAATGCTGAGCAGCATGGATTCTGCATCGGTTC GCATTATCAAACCCTTTCCTGCGCCCCAGACTCCAGGCCGCCTGCAGCCTGCCCCTGTGATCCCTTCGGCGCCAGCAGCTCCAAAACTGG ACCACCAGAGAATGGACACCATCCAGGAAGACCCCAGCACAGACTCACATATGGACGAGGATGGGTTTGAGAAGGACCCCTTCCCAAATA GCAGCACAGCTGCCAAGTCATTTGAGGATCTCACGGACCATCCGGTCACCAGAAGTGAAAAGGCTGCCTCCTTTAAACTGCAGCGTCAGA ATCGTGTTGACAGCAAAGAAACAGAGTGCTAATTTAGTTCTCAGCTCTTCTGACTTAAGTGTGCAAAATATTTTTATAGATTTGACCTAC AAATCAATCACAGCTTGTATTTTGTGAAGACTGGGAAGTGACTTAGCAGATGCTGGTCATGTGTTTGAACTTCCTGCAGGTAAACAGTTC TTGTGTGGTTTGGCCCTTCTCCTTTTGAAAAGGTAAGGTGAAGGTGAATCTAGCTTATTTTGAGGCTTTCAGGTTTTAGTTTTTAAAATA TCTTTTGACCTGTGGTGCAAAAGCAGAAAATACAGCTGGATTGGGTTATGAATATTTACGTTTTTGTAAATTAATCTTTTATATTGATAA CAGCACTGACTAGGGAAATGATCAGTTTTTTTTTATACACTGTAATGAACCGCTGAATATGAGGCATTTGGCATTTATTTGTGATGACAA CTGGAATAGTTTTTTTTTTTTTTTTTTTTTTTTGCCTTCAACTAAAAACAAAGGAGATAAATCTAGTATACATTGTCTCTAAATTGTGGG TCTATTTCTAGTTATTACCCAGAGTTTTTATGTAGCAGGGAAAATATATATCTAAATTTAGAAATCATTTGGGTTAATATGGCTCTTCAT AATTCTAAGACTAATGCTCTCTAGAAACCTAACCACCTACCTTACAGTGAGGGCTATACATGGTAGCCAGTTGAATTTATGGAATCTACC AACTGTTTAGGGCCCTGATTTGCTGGGCAGTTTTTCTGTATTTTATAAGTATCTTCATGTATCCCTGTTACTGATAGGGATACATGCTCT TAGAAAATTCACTATTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTGGAGAGGCTGAGGTTGCGCCACTACACTCCAGCCT GGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAATTCACTATCTACAAACCTAGAATATTTAAAATACAAAGATT GCCTGTTTTCAAACACTATTGAATAAGAGGGTGAGATATTTCTTAACAACAACAACAACAAAAAAAACAGGTTGTTTTGAATGTGATGAG CCAGCCAGGAGATAGAATACTACCTGCCCTTAGGGTTGGGGGCTGTCCCCACAAGACTTGATACTTCAGAAACCCTTTTTATTGACCCAC AAGCAGATATTTGAATTACTTCTTACTTTATTGCTCCAGGATTCTGGATGGGCTGCATTTACTGTGTGAAGGATAAAAATCATTAGCCTG GATTCTGATTTCTATAAATTGCCATTAAAAGCTTTTTTTCCCCTAAGAACTGAAATGTGCTCACCAGCCAAAACATTTTAACTTGTAAAT TTTGAGGGCAGTTAACCAAACCTGTGACTAATCATATCTCCTCCTACCCCCCATTTCCAAGGACATTTGTTACTCAGATACTTGTTATAC TAATACTTGAACTTGTACCTTATGGTATTTGCTATCTTTTAACTAGTCATGATATTCTTATACTTTAGTTACACTTTTGGAATTTGATAC AAGGTTGAGTGGGGTGTGTGGGTGTATGTATGAGTGAAACAGTTCTCAAAAGAATGTAAGAAAAACCATTTTTATAAAATTGTGACTTTT TAAAAACATAGTCTTTGTCATTTATAGAATTAACAAGCTGCTCAGGGTATATTTTATAGCTGTAGCACTGATATCTGCATTAATAAATAC >100192_100192_1_YWHAQ-ADAM17_YWHAQ_chr2_9770288_ENST00000381844_ADAM17_chr2_9650260_ENST00000310823_length(amino acids)=525AA_BP=0 MEKTELIQKAKLAEQAERYDDMATCMKAVTEQGAELSNEERNLLSVAYKNVVGGRRSAWRVISSIEQKTDTSDKKLQLIKDYREKVESEL RSICTTVLEADLVTTHELGHNFGAEHDPDGLAECAPNEDQGGKYVMYPIAVSGDHENNKMFSNCSKQSIYKTIESKAQECFQERSNKVCG NSRVDEGEECDPGIMYLNNDTCCNSDCTLKEGVQCSDRNSPCCKNCQFETAQKKCQEAINATCKGVSYCTGNSSECPPPGNAEDDTVCLD LGKCKDGKCIPFCEREQQLESCACNETDNSCKVCCRDLSGRCVPYVDAEQKNLFLRKGKPCTVGFCDMNGKCEKRVQDVIERFWDFIDQL SINTFGKFLADNIVGSVLVFSLIFWIPFSILVHCVDKKLDKQYESLSLFHPSNVEMLSSMDSASVRIIKPFPAPQTPGRLQPAPVIPSAP -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for YWHAQ-ADAM17 |
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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 |
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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 YWHAQ-ADAM17 |
![]() (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 YWHAQ-ADAM17 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | YWHAQ | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Hgene | YWHAQ | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Tgene | C3280501 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0005758 | Bulla | 1 | CTD_human | |
Tgene | C0009319 | Colitis | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C3860213 | Autoinflammatory disorder | 1 | GENOMICS_ENGLAND | |
Tgene | C4751120 | Neonatal inflammatory skin and bowel disease | 1 | ORPHANET |