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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DYNC2H1-KCNQ5 (FusionGDB2 ID:HG79659TG56479)

Fusion Gene Summary for DYNC2H1-KCNQ5

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC2H1-KCNQ5
Fusion gene ID: hg79659tg56479
HgeneTgene
Gene symbol

DYNC2H1

KCNQ5

Gene ID

79659

56479

Gene namedynein cytoplasmic 2 heavy chain 1potassium voltage-gated channel subfamily Q member 5
SynonymsATD3|DHC1b|DHC2|DNCH2|DYH1B|SRPS2B|SRTD3|hdhc11Kv7.5|MRD46
Cytomap('DYNC2H1')('KCNQ5')

11q22.3

6q13

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic dynein 2 heavy chain 1dynein cytoplasmic heavy chain 2dynein heavy chain 11dynein heavy chain, isotype 1Bdynein, cytoplasmic, heavy polypeptide 2potassium 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 date2020031320200313
UniProtAcc.

Q9NR82

Ensembl transtripts involved in fusion geneENST00000334267, ENST00000375735, 
ENST00000398093, 
Fusion gene scores* DoF score15 X 13 X 9=17556 X 6 X 3=108
# samples 156
** MAII scorelog2(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 breakpointDYNC2H1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDYNC2H1

GO:0007030

Golgi organization

8666668

TgeneKCNQ5

GO:0071805

potassium ion transmembrane transport

10787416|11159685



check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-B6-A0I8-01ADYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+


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Fusion Gene ORF analysis for DYNC2H1-KCNQ5

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000334267ENST00000342056DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000355194DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000355635DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000370392DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000370398DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000402622DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000403813DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000334267ENST00000414165DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000342056DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000355194DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000355635DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000370392DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000370398DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000402622DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000403813DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000375735ENST00000414165DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000342056DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000355194DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000355635DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000370392DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000370398DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000402622DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000403813DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+
Frame-shiftENST00000398093ENST00000414165DYNC2H1chr11

103339433

-KCNQ5chr6

73787045

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DYNC2H1-KCNQ5


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DYNC2H1-KCNQ5


check button Four levels of functional features of fusion genes
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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KCNQ5

Q9NR82

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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DYNC2H1-KCNQ5


check button 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.

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Fusion Gene PPI Analysis for DYNC2H1-KCNQ5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DYNC2H1-KCNQ5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKCNQ5Q9NR82DB00996GabapentinActivatorSmall moleculeApproved|Investigational
TgeneKCNQ5Q9NR82DB04953EzogabineSmall moleculeApproved|Investigational

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Related Diseases for DYNC2H1-KCNQ5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYNC2H1C0036069Saldino-Noonan Syndrome7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDYNC2H1C0024507Majewski Syndrome3CTD_human;ORPHANET
HgeneDYNC2H1C0265275Jeune thoracic dystrophy2GENOMICS_ENGLAND;ORPHANET
HgeneDYNC2H1C0432197Short rib-polydactyly syndrome, Verma-Naumoff type2CTD_human;ORPHANET
HgeneDYNC2H1C0006142Malignant neoplasm of breast1CTD_human
HgeneDYNC2H1C0036996Short Rib-Polydactyly Syndrome1CTD_human
HgeneDYNC2H1C0152427Polydactyly1GENOMICS_ENGLAND
HgeneDYNC2H1C0678222Breast Carcinoma1CTD_human
HgeneDYNC2H1C1257931Mammary Neoplasms, Human1CTD_human
HgeneDYNC2H1C1458155Mammary Neoplasms1CTD_human
HgeneDYNC2H1C4704874Mammary Carcinoma, Human1CTD_human
TgeneC4539851MENTAL RETARDATION, AUTOSOMAL DOMINANT 462GENOMICS_ENGLAND;UNIPROT
TgeneC0027092Myopia1CTD_human
TgeneC0235833Congenital diaphragmatic hernia1CTD_human
TgeneC0265699Congenital hernia of foramen of Morgagni1CTD_human
TgeneC0265700Congenital hernia of foramen of Bochdalek1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND