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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: 18322

FusionGeneSummary for KCNQ1_AMPD3

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNQ1_AMPD3
Fusion gene ID: 18322
HgeneTgene
Gene symbol

KCNQ1

AMPD3

Gene ID

3784

272

Gene namepotassium voltage-gated channel subfamily Q member 1adenosine monophosphate deaminase 3
SynonymsATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS-
Cytomap

11p15.5-p15.4

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionpotassium voltage-gated channel subfamily KQT member 1IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1kidney and cardiac voltage dependend K+ channelpotassium channel, voltage gated KQT-like subfamily Q, member 1potassium voltagAMP deaminase 3AMP aminohydrolaseadenosine monophosphate deaminase (isoform E)erythrocyte AMP deaminaseerythrocyte type AMP deaminaseerythrocyte-specific AMP deaminasemyoadenylate deaminase
Modification date2018052720180519
UniProtAcc

P51787

Q01432

Ensembl transtripts involved in fusion geneENST00000155840, ENST00000335475, 
ENST00000526095, 
ENST00000444303, 
ENST00000396554, ENST00000530864, 
Fusion gene scores* DoF score12 X 8 X 8=7683 X 3 X 3=27
# samples 123
** MAII scorelog2(12/768*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KCNQ1 [Title/Abstract] AND AMPD3 [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
HgeneKCNQ1

GO:0035690

cellular response to drug

9108097

HgeneKCNQ1

GO:0060306

regulation of membrane repolarization

11299204

HgeneKCNQ1

GO:0071320

cellular response to cAMP

11299204|16002409

HgeneKCNQ1

GO:0071435

potassium ion export

8900283|10400998

HgeneKCNQ1

GO:0071805

potassium ion transmembrane transport

9354802|11299204|16002409

HgeneKCNQ1

GO:0086011

membrane repolarization during action potential

8900283|11299204|19646991

HgeneKCNQ1

GO:0097623

potassium ion export across plasma membrane

17289006

HgeneKCNQ1

GO:1901381

positive regulation of potassium ion transmembrane transport

8900283


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
TCGALDLUADTCGA-97-A4M5-01AKCNQ1chr11

2683311

+AMPD3chr11

10378822

+
* 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
5CDS-intronENST00000155840ENST00000444303KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
5CDS-intronENST00000155840ENST00000396554KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
5CDS-intronENST00000155840ENST00000530864KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
5CDS-intronENST00000335475ENST00000444303KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
5CDS-intronENST00000335475ENST00000396554KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
5CDS-intronENST00000335475ENST00000530864KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
intron-intronENST00000526095ENST00000444303KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
intron-intronENST00000526095ENST00000396554KCNQ1chr11

2683311

+AMPD3chr11

10378822

+
intron-intronENST00000526095ENST00000530864KCNQ1chr11

2683311

+AMPD3chr11

10378822

+

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FusionProtFeatures for KCNQ1_AMPD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNQ1

P51787

AMPD3

Q01432

AMP deaminase plays a critical role in energymetabolism.

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 KCNQ1_AMPD3


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 KCNQ1_AMPD3


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
KCNQ1TRAF6, AKAP9, PRKAR2A, PPP1CA, PRKACA, KCNE1, KCNE2, KCNQ2, HSPA4, NEDD4, USP2, AP2M1, NEDD4L, ATP4A, EGFR, BACE1AMPD3RAD21, ALB


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 KCNQ1_AMPD3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNQ1P51787DB00808IndapamidePotassium voltage-gated channel subfamily KQT member 1 {ECO:0000305}small moleculeapproved
HgeneKCNQ1P51787DB11633IsavuconazolePotassium voltage-gated channel subfamily KQT member 1 {ECO:0000305}small moleculeapproved|investigational
HgeneKCNQ1P51787DB01244BepridilPotassium voltage-gated channel subfamily KQT member 1 {ECO:0000305}small moleculeapproved|withdrawn

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RelatedDiseases for KCNQ1_AMPD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNQ1C0035828Romano-Ward Syndrome36CTD_human;ORPHANET;UNIPROT
HgeneKCNQ1C0022387Jervell-Lange Nielsen Syndrome9CTD_human;ORPHANET;UNIPROT
HgeneKCNQ1C0023976Long QT Syndrome7CTD_human
HgeneKCNQ1C0011860Diabetes Mellitus, Non-Insulin-Dependent3CTD_human
HgeneKCNQ1C0001418Adenocarcinoma1CTD_human
HgeneKCNQ1C0018781Noise-induced hearing loss1CTD_human
HgeneKCNQ1C0021841Intestinal Neoplasms1CTD_human
HgeneKCNQ1C1837014Atrial Fibrillation, Familial, 31CTD_human;UNIPROT
HgeneKCNQ1C1865019SHORT QT SYNDROME 2 (disorder)1CTD_human;UNIPROT
TgeneAMPD3C2752073Erythrocyte Amp Deaminase Deficiency4UNIPROT