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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: 18342

FusionGeneSummary for KCNQ5_DST

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNQ5_DST
Fusion gene ID: 18342
HgeneTgene
Gene symbol

KCNQ5

DST

Gene ID

56479

667

Gene namepotassium voltage-gated channel subfamily Q member 5dystonin
SynonymsKv7.5|MRD46BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBSB2|HSAN6|MACF2
Cytomap

6q13

6p12.1

Type of geneprotein-codingprotein-coding
Descriptionpotassium 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 Kv7.5dystoninbullous pemphigoid antigen 1dystonia musculorum proteinhemidesmosomal plaque proteintrabeculin-beta
Modification date2018052320180523
UniProtAcc

Q9NR82

Q03001

Ensembl transtripts involved in fusion geneENST00000342056, ENST00000355194, 
ENST00000370398, ENST00000370392, 
ENST00000355635, ENST00000414165, 
ENST00000402622, ENST00000403813, 
ENST00000421834, ENST00000370769, 
ENST00000312431, ENST00000370754, 
ENST00000370788, ENST00000361203, 
ENST00000244364, ENST00000446842, 
ENST00000340834, ENST00000370765, 
ENST00000518935, 
Fusion gene scores* DoF score6 X 5 X 4=12010 X 11 X 4=440
# samples 611
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNQ5 [Title/Abstract] AND DST [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
HgeneKCNQ5

GO:0071805

potassium ion transmembrane transport

10787416|11159685

TgeneDST

GO:0009611

response to wounding

19403692


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
TCGARVLUSCTCGA-60-2722-01AKCNQ5chr6

73332315

+DSTchr6

56342286

-
* 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-shitENST00000342056ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000342056ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000342056ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000342056ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000342056ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000342056ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000342056ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000342056ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000342056ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000342056ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000342056ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000355194ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000355194ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355194ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355194ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355194ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355194ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355194ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355194ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000355194ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000355194ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000355194ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000370398ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000370398ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370398ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370398ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370398ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370398ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370398ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370398ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000370398ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000370398ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000370398ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000370392ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000370392ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370392ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370392ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370392ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370392ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370392ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000370392ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000370392ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000370392ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000370392ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000355635ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000355635ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355635ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355635ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355635ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355635ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355635ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000355635ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000355635ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000355635ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000355635ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000414165ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000414165ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000414165ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000414165ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000414165ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000414165ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000414165ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000414165ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000414165ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000414165ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000414165ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000402622ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000402622ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000402622ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000402622ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000402622ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000402622ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000402622ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000402622ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000402622ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000402622ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000402622ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000403813ENST00000421834KCNQ5chr6

73332315

+DSTchr6

56342286

-
Frame-shitENST00000403813ENST00000370769KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000403813ENST00000312431KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000403813ENST00000370754KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000403813ENST00000370788KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000403813ENST00000361203KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000403813ENST00000244364KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-3UTRENST00000403813ENST00000446842KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000403813ENST00000340834KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000403813ENST00000370765KCNQ5chr6

73332315

+DSTchr6

56342286

-
5CDS-intronENST00000403813ENST00000518935KCNQ5chr6

73332315

+DSTchr6

56342286

-

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FusionProtFeatures for KCNQ5_DST


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

Q9NR82

DST

Q03001


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 KCNQ5_DST


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).

Top

FusionGenePPI for KCNQ5_DST


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
KCNQ5KCNQ3, DISC1, HCCS, MCOLN3, GABRE, KCNS3DSTDCTN1, ERBB2IP, COL17A1, ITGB4, PAK2, MAPK6, NFYC, APC, TERF1, TERF2, CALM1, CDC5L, DISC1, DTNBP1, CEP63, TRAF3IP1, EXOC1, SH3BP5, TNIK, CELSR3, KIAA1549, ITSN2, SIRT7, PRKAB2, KIAA0368, UBXN6, PRMT5, POTEKP, SMAD9, PRKD2, MMS19, MOB1A, MOB1B, STK3, OBSL1, CCDC8, CDK2, MAPRE1, MAGEA1, UNK, MED4, DYNLT1, TMEM17, ADD1, CAPZA2, DBN1, MYH9, PPP1CB, IQGAP1, LIMA1, ANLN, MYO18A, GAN, MCM2, CDH1, COPS7B, MTNR1B, TRIM25, G3BP1


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


Top

RelatedDrugs for KCNQ5_DST


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNQ5Q9NR82DB04953EzogabinePotassium voltage-gated channel subfamily KQT member 5small moleculeapproved|investigational

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RelatedDiseases for KCNQ5_DST


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNQ5C0027092Myopia1CTD_human