Gene Information
|
Gene Name
|
KCNQ1 |
|
Gene ID
|
3784
|
|
Gene Full Name
|
potassium voltage-gated channel subfamily Q member 1 |
|
Gene Alias
|
ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS |
|
Transcripts
|
ENSG00000053918
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Endoplasmic reticulum;Plasma membrane, Cytosol;
|
|
Membrane Info
|
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels |
|
Uniport_ID
|
P51787
|
|
HGNC ID
|
HGNC:6294
|
|
OMIM ID
|
607542 |
|
Summary
|
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] |
Target gene [KCNQ1] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 5005610 |
chr11 |
5 |
0 |
0 |
5 |
View |
| 5005643 |
chr11 |
76 |
11 |
1 |
88 |
View |
| 5011161 |
chr11 |
8 |
28 |
0 |
36 |
View |
Target gene [KCNQ1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE183048
|
Chip-seq |
24 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE40774
|
Expression array |
134 |
Agilent-026652 Whole Human Genome Microarray 4x44K v2 (Probe Name version) |
|
GSE169622
|
Methylation profiling (Array) |
9 |
Infinium MethylationEPIC |
|
GSE65858
|
Expression array |
270 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE181805
|
Expression array |
25 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE196215
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE138080
|
Expression array |
35 |
Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version) |
|
GSE140662
|
Expression array |
8 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE55542
|
Expression array |
36 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
C GSE143026
|
ATAC-seq;Chip-seq;RNA-seq |
30 |
Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_CESC
|
DNA methylation sequencing;RNA-seq |
288 |
TCGA |
|
GSE51993
|
Expression array |
48 |
Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE55550
|
Expression array |
155 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
GSE165883
|
RNA-seq |
20 |
Illumina NextSeq 500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE183048 - KCNQ1 peak across samples
|
Peak Plot
|
> Dataset: GSE143026 - KCNQ1 peak across samples
|
Peak Plot
|
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