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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10782

FusionGeneSummary for DYNC2H1_KCNQ5

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC2H1_KCNQ5
Fusion gene ID: 10782
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

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 date2018052320180523
UniProtAcc

Q8NCM8

Q9NR82

Ensembl transtripts involved in fusion geneENST00000375735, ENST00000334267, 
ENST00000398093, 
ENST00000342056, 
ENST00000355194, ENST00000370398, 
ENST00000370392, ENST00000355635, 
ENST00000414165, ENST00000402622, 
ENST00000403813, 
Fusion gene scores* DoF score11 X 9 X 7=6934 X 4 X 3=48
# samples 104
** MAII scorelog2(10/693*10)=-2.79285535236249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-B6-A0I8-01ADYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shitENST00000375735ENST00000342056DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000355194DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000370398DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000370392DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000355635DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000414165DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000402622DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000375735ENST00000403813DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000342056DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000355194DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000370398DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000370392DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000355635DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000414165DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000402622DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000334267ENST00000403813DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000342056DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000355194DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000370398DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000370392DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000355635DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000414165DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000402622DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+
Frame-shitENST00000398093ENST00000403813DYNC2H1chr11

103339433

+KCNQ5chr6

73787045

+

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FusionProtFeatures for DYNC2H1_KCNQ5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DYNC2H1

Q8NCM8

KCNQ5

Q9NR82


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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FusionGeneSequence for DYNC2H1_KCNQ5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
DYNC2H1DYNC2LI1, USP50, PAXIP1, PEX14, FAM160B2, ARHGAP25, NONO, RUVBL2, GDI1, TIGD6, SPC24, PPP2R3C, GAN, EPHA1, FCGRT, CRYL1, MOCS3, IL17RA, KIAA1919, MTNR1BKCNQ5KCNQ3, DISC1, HCCS, MCOLN3, GABRE, KCNS3


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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RelatedDrugs for DYNC2H1_KCNQ5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKCNQ5Q9NR82DB04953EzogabinePotassium voltage-gated channel subfamily KQT member 5small moleculeapproved|investigational

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RelatedDiseases for DYNC2H1_KCNQ5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYNC2H1C0036069Saldino-Noonan Syndrome4UNIPROT
HgeneDYNC2H1C0036996Short Rib-Polydactyly Syndrome1CTD_human
HgeneDYNC2H1C1458155Mammary Neoplasms1CTD_human
TgeneKCNQ5C0027092Myopia1CTD_human