AutismKB 2.0

Annotation Detail for KCNQ1


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Basic Information Top
Gene Symbol:KCNQ1 ( ATFB1,ATFB3,FLJ26167,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 1
Band: 11p15.5-p15.4
Quick LinksEntrez ID:3784; OMIM: 607542; Uniprot ID:KCNQ1_HUMAN; ENSEMBL ID: ENSG00000053918; HGNC ID: 6294
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult36 / 193912118
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal25 / 33603077
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow1 / 4880120
brain3 / 11009892
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine22 / 23447293
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach5 / 9661951
testis2 / 3304426
thymus1 / 8113112
thyroid7 / 47473147
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204487_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.35
Adipocyte10.05
AdrenalCortex197.5
Adrenalgland144.8
Amygdala8.45
Appendix10.1
AtrioventricularNode9.4
BDCA4+_DentriticCells29.45
Bonemarrow11.2
BronchialEpithelialCells9.8
CD105+_Endothelial10.3
CD14+_Monocytes188.65
CD19+_BCells(neg._sel.)72.15
CD33+_Myeloid81.2
CD34+11.9
CD4+_Tcells14.65
CD56+_NKCells13.05
CD71+_EarlyErythroid9.45
CD8+_Tcells10.3
CardiacMyocytes12.4
Caudatenucleus8.95
Cerebellum6.95
CerebellumPeduncles11.9
CiliaryGanglion9.3
CingulateCortex10.35
Colorectaladenocarcinoma10.2
DorsalRootGanglion7.95
FetalThyroid107.85
Fetalbrain10.25
Fetalliver8.6
Fetallung8.65
GlobusPallidus7.35
Heart24.2
Hypothalamus9.6
Kidney14.45
Leukemia_chronicMyelogenousK-5629.25
Leukemia_promyelocytic-HL-608.95
Leukemialymphoblastic(MOLT-4)8.35
Liver13.4
Lung58.1
Lymphnode11.15
Lymphoma_burkitts(Daudi)13
Lymphoma_burkitts(Raji)22.65
MedullaOblongata8.6
OccipitalLobe9.05
OlfactoryBulb7.9
Ovary7.4
Pancreas171.05
PancreaticIslet61.3
ParietalLobe10.05
Pituitary13.45
Placenta10.75
Pons9.45
PrefrontalCortex12.4
Prostate15.95
Salivarygland8.05
SkeletalMuscle11.2
Skin7.55
SmoothMuscle11.3
Spinalcord10.95
SubthalamicNucleus9.2
SuperiorCervicalGanglion11.1
TemporalLobe9.2
Testis8.7
TestisGermCell8.6
TestisIntersitial8.05
TestisLeydigCell12.75
TestisSeminiferousTubule8.8
Thalamus10.3
Thymus8.2
Thyroid607.25
Tongue10.65
Tonsil10.2
Trachea8.55
TrigeminalGanglion9.8
Uterus6.85
UterusCorpus8.9
WholeBlood55.05
Wholebrain8.55
colon30.95
pineal_day10.74
pineal_night9.66
retina12.275
small_intestine37
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_399_PI416408490
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.98 ± 1.16
Basal Forebrain2.61 ± 0.47
Basal Part of Pons2.19 ± 0.26
Cerebellar Cortex2.4 ± 0.76
Cerebellar Nuclei2.69 ± 0.69
Claustrum3.31 ± 0.71
Epithalamus2.28 ± 0.8
Frontal Lobe2.37 ± 0.76
Globus Pallidus3.41 ± 0.71
Hypothalamus2.51 ± 0.72
Insula2.26 ± 0.38
Limbic Lobe2.51 ± 0.66
Mesencephalon2.68 ± 0.79
Myelencephalon2.59 ± 0.77
Occipital Lobe2.52 ± 0.95
Parietal Lobe2.53 ± 0.78
Pontine Tegmentum2.62 ± 0.76
Striatum2.69 ± 0.75
Subthalamus2.61 ± 0.73
Temporal Lobe2.54 ± 0.79
Thalamus2.43 ± 0.64
White Matter2.55 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnq1CBCerebellum24.07
27.79
Kcnq1CTXCerebral cortex19.85
12.87
Kcnq1HIPHippocampal region14.58
14.75
Kcnq1HPFHippocampal formation14.91
13.15
Kcnq1HYHypothalamus11.38
8.34
Kcnq1LSXLateral septal complex0.79
0.63
Kcnq1MBMidbrain8.02
8.05
Kcnq1MYMedulla15.26
13.78
Kcnq1OLFOlfactory bulb23.48
18.02
Kcnq1PPons9.3
7.97
Kcnq1PALPallidum7.77
6.21
Kcnq1RHPRetrohippocampal region15.44
10.76
Kcnq1sAMYStriatum-like amygdalar nuclei14.34
10.62
Kcnq1STRStriatum8.22
6.18
Kcnq1STRdStriatum dorsal region7.12
5.79
Kcnq1STRvStriatum ventral region11.13
6.68
Kcnq1THThalamus12.96
10.04
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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