FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 1475

FusionGeneSummary for ALDH2_KCNE1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH2_KCNE1
Fusion gene ID: 1475
HgeneTgene
Gene symbol

ALDH2

KCNE1

Gene ID

217

3753

Gene namealdehyde dehydrogenase 2 family memberpotassium voltage-gated channel subfamily E regulatory subunit 1
SynonymsALDH-E2|ALDHI|ALDMISK|JLNS|JLNS2|LQT2/5|LQT5|MinK
Cytomap

12q24.12

21q22.12

Type of geneprotein-codingprotein-coding
Descriptionaldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)liver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2potassium voltage-gated channel subfamily E member 1IKs producing slow voltage-gated potassium channel subunit beta Minkcardiac delayed rectifier potassium channel proteindelayed rectifier potassium channel subunit IsKminimal potassium channelpotassi
Modification date2018052720180527
UniProtAcc

P05091

P15382

Ensembl transtripts involved in fusion geneENST00000416293, ENST00000261733, 
ENST00000399289, ENST00000432085, 
ENST00000337385, ENST00000399286, 
ENST00000416357, ENST00000399284, 
ENST00000489175, 
Fusion gene scores* DoF score7 X 6 X 5=2102 X 2 X 2=8
# samples 72
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ALDH2 [Title/Abstract] AND KCNE1 [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
TgeneKCNE1

GO:0006487

protein N-linked glycosylation

21669976

TgeneKCNE1

GO:0006493

protein O-linked glycosylation

21669976

TgeneKCNE1

GO:0071320

cellular response to cAMP

11299204

TgeneKCNE1

GO:0071435

potassium ion export

8900283|10400998|17289006

TgeneKCNE1

GO:0071805

potassium ion transmembrane transport

8900283|9354802|11299204

TgeneKCNE1

GO:0086009

membrane repolarization

8900283

TgeneKCNE1

GO:0086011

membrane repolarization during action potential

8900283|11299204|19646991

TgeneKCNE1

GO:0086013

membrane repolarization during cardiac muscle cell action potential

8900283

TgeneKCNE1

GO:1901379

regulation of potassium ion transmembrane transport

10400998

TgeneKCNE1

GO:1901381

positive regulation of potassium ion transmembrane transport

8900283

TgeneKCNE1

GO:1902259

regulation of delayed rectifier potassium channel activity

10400998

TgeneKCNE1

GO:1902260

negative regulation of delayed rectifier potassium channel activity

19219384


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
ChiTaRS3.1CA309127ALDH2chr12

112241751

-KCNE1chr21

35819819

+
* 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-3UTRENST00000416293ENST00000399289ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-3UTRENST00000416293ENST00000432085ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-3UTRENST00000416293ENST00000337385ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000416293ENST00000399286ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000416293ENST00000416357ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000416293ENST00000399284ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000416293ENST00000489175ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-3UTRENST00000261733ENST00000399289ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-3UTRENST00000261733ENST00000432085ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-3UTRENST00000261733ENST00000337385ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000261733ENST00000399286ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000261733ENST00000416357ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000261733ENST00000399284ALDH2chr12

112241751

-KCNE1chr21

35819819

+
5CDS-intronENST00000261733ENST00000489175ALDH2chr12

112241751

-KCNE1chr21

35819819

+

Top

FusionProtFeatures for ALDH2_KCNE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALDH2

P05091

KCNE1

P15382

Ancillary protein that assembles as a beta subunit witha voltage-gated potassium channel complex of pore-forming alphasubunits. Modulates the gating kinetics and enhances stability ofthe channel complex. Assembled with KCNB1 modulates the gatingcharacteristics of the delayed rectifier voltage-dependentpotassium channel KCNB1 (PubMed:19219384). Assembled withKCNQ1/KVLQT1 is proposed to form the slowly activating delayedrectifier cardiac potassium (IKs) channel. The outward currentreaches its steady state only after 50 seconds. Assembled withKCNH2/HERG may modulate the rapidly activating component of thedelayed rectifying potassium current in heart (IKr).{ECO:0000269|PubMed:19219384}.

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


Top

FusionGeneSequence for ALDH2_KCNE1


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 ALDH2_KCNE1


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


Top

RelatedDrugs for ALDH2_KCNE1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH2P05091DB00822DisulfiramAldehyde dehydrogenase, mitochondrialsmall moleculeapproved
TgeneKCNE1P15382DB00808IndapamidePotassium voltage-gated channel subfamily E member 1small moleculeapproved

Top

RelatedDiseases for ALDH2_KCNE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
HgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
HgeneALDH2C0085762Alcohol abuse5PSYGENET
HgeneALDH2C0393756Hangover from alcohol4PSYGENET
HgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
HgeneALDH2C0004096Asthma2CTD_human
HgeneALDH2C0005586Bipolar Disorder2PSYGENET
HgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneALDH2C0009404Colorectal Neoplasms1CTD_human
HgeneALDH2C0014859Esophageal Neoplasms1CTD_human
HgeneALDH2C0016382Flushing1CTD_human
HgeneALDH2C0021364Male infertility1CTD_human
HgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH2C0028796Dermatitis, Occupational1CTD_human
HgeneALDH2C0032927Precancerous Conditions1CTD_human
HgeneALDH2C0042373Vascular Diseases1CTD_human
HgeneALDH2C0242973Ventricular Dysfunction1CTD_human
HgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
HgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
HgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
HgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human
TgeneKCNE1C1867904LONG QT SYNDROME 58CTD_human;UNIPROT
TgeneKCNE1C0023976Long QT Syndrome3CTD_human
TgeneKCNE1C2676723JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)3CTD_human;UNIPROT
TgeneKCNE1C0018781Noise-induced hearing loss1CTD_human
TgeneKCNE1C0022387Jervell-Lange Nielsen Syndrome1CTD_human;ORPHANET