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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:DYNC2H1-KCNQ5 (FusionGDB2 ID:HG79659TG56479) |
Fusion Gene Summary for DYNC2H1-KCNQ5 |
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Fusion gene information | Fusion gene name: DYNC2H1-KCNQ5 | Fusion gene ID: hg79659tg56479 | Hgene | Tgene | Gene symbol | DYNC2H1 | KCNQ5 | Gene ID | 79659 | 56479 |
Gene name | dynein cytoplasmic 2 heavy chain 1 | potassium voltage-gated channel subfamily Q member 5 | |
Synonyms | ATD3|DHC1b|DHC2|DNCH2|DYH1B|SRPS2B|SRTD3|hdhc11 | Kv7.5|MRD46 | |
Cytomap | ('DYNC2H1')('KCNQ5') 11q22.3 | 6q13 | |
Type of gene | protein-coding | protein-coding | |
Description | cytoplasmic dynein 2 heavy chain 1dynein cytoplasmic heavy chain 2dynein heavy chain 11dynein heavy chain, isotype 1Bdynein, cytoplasmic, heavy polypeptide 2 | potassium voltage-gated channel subfamily KQT member 5KQT-like 5potassium channel proteinpotassium channel subunit alpha KvLQT5potassium channel, voltage gated KQT-like subfamily Q, member 5voltage-gated potassium channel subunit Kv7.5 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q9NR82 | |
Ensembl transtripts involved in fusion gene | ENST00000334267, ENST00000375735, ENST00000398093, | ||
Fusion gene scores | * DoF score | 15 X 13 X 9=1755 | 6 X 6 X 3=108 |
# samples | 15 | 6 | |
** MAII score | log2(15/1755*10)=-3.54843662469604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DYNC2H1 [Title/Abstract] AND KCNQ5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DYNC2H1(103339433)-KCNQ5(73787045), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | DYNC2H1-KCNQ5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. DYNC2H1-KCNQ5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. DYNC2H1-KCNQ5 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 | DYNC2H1 | GO:0007030 | Golgi organization | 8666668 |
Tgene | KCNQ5 | GO:0071805 | potassium ion transmembrane transport | 10787416|11159685 |
![]() * 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 | BRCA | TCGA-B6-A0I8-01A | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
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Fusion Gene ORF analysis for DYNC2H1-KCNQ5 |
![]() * 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 |
Frame-shift | ENST00000334267 | ENST00000342056 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000355194 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000355635 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000370392 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000370398 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000402622 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000403813 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000334267 | ENST00000414165 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000342056 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000355194 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000355635 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000370392 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000370398 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000402622 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000403813 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000375735 | ENST00000414165 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000342056 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000355194 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000355635 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000370392 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000370398 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000402622 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000403813 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
Frame-shift | ENST00000398093 | ENST00000414165 | DYNC2H1 | chr11 | 103339433 | - | KCNQ5 | chr6 | 73787045 | + |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DYNC2H1-KCNQ5 |
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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 DYNC2H1-KCNQ5 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:103339433/:73787045) - 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 |
. | KCNQ5 |
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: Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1. {ECO:0000269|PubMed:10787416, ECO:0000269|PubMed:11159685, ECO:0000269|PubMed:28669405}. |
![]() * 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 DYNC2H1-KCNQ5 |
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Fusion Gene PPI Analysis for DYNC2H1-KCNQ5 |
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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 DYNC2H1-KCNQ5 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | KCNQ5 | Q9NR82 | DB00996 | Gabapentin | Activator | Small molecule | Approved|Investigational |
Tgene | KCNQ5 | Q9NR82 | DB04953 | Ezogabine | Small molecule | Approved|Investigational |
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Related Diseases for DYNC2H1-KCNQ5 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DYNC2H1 | C0036069 | Saldino-Noonan Syndrome | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | DYNC2H1 | C0024507 | Majewski Syndrome | 3 | CTD_human;ORPHANET |
Hgene | DYNC2H1 | C0265275 | Jeune thoracic dystrophy | 2 | GENOMICS_ENGLAND;ORPHANET |
Hgene | DYNC2H1 | C0432197 | Short rib-polydactyly syndrome, Verma-Naumoff type | 2 | CTD_human;ORPHANET |
Hgene | DYNC2H1 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | DYNC2H1 | C0036996 | Short Rib-Polydactyly Syndrome | 1 | CTD_human |
Hgene | DYNC2H1 | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND |
Hgene | DYNC2H1 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | DYNC2H1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | DYNC2H1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | DYNC2H1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C4539851 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0027092 | Myopia | 1 | CTD_human | |
Tgene | C0235833 | Congenital diaphragmatic hernia | 1 | CTD_human | |
Tgene | C0265699 | Congenital hernia of foramen of Morgagni | 1 | CTD_human | |
Tgene | C0265700 | Congenital hernia of foramen of Bochdalek | 1 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |