AutismKB 2.0

Annotation Detail for KCNQ3


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Basic Information Top
Gene Symbol:KCNQ3 ( BFNC2,EBN2,KV7.3 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 3
Band: 8q24.22
Quick LinksEntrez ID:3786; OMIM: 602232; Uniprot ID:KCNQ3_HUMAN; ENSEMBL ID: ENSG00000184156; HGNC ID: 6297
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 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 19391214
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal19 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206573_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.3
Adipocyte6.8
AdrenalCortex6
Adrenalgland5.65
Amygdala5.95
Appendix6.5
AtrioventricularNode8.1
BDCA4+_DentriticCells5.55
Bonemarrow5.85
BronchialEpithelialCells5.9
CD105+_Endothelial6.15
CD14+_Monocytes6
CD19+_BCells(neg._sel.)5.45
CD33+_Myeloid6.6
CD34+7.35
CD4+_Tcells5.25
CD56+_NKCells5.7
CD71+_EarlyErythroid5.5
CD8+_Tcells5.35
CardiacMyocytes7.4
Caudatenucleus5.15
Cerebellum9.55
CerebellumPeduncles8.2
CiliaryGanglion6.55
CingulateCortex6.25
Colorectaladenocarcinoma5.6
DorsalRootGanglion7.45
FetalThyroid5.65
Fetalbrain6.35
Fetalliver10.1
Fetallung5
GlobusPallidus5.05
Heart7.5
Hypothalamus6.15
Kidney5.15
Leukemia_chronicMyelogenousK-5625.2
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)5.05
Liver7.9
Lung6.15
Lymphnode4.95
Lymphoma_burkitts(Daudi)7.15
Lymphoma_burkitts(Raji)8.05
MedullaOblongata5.25
OccipitalLobe5.55
OlfactoryBulb5.75
Ovary4
Pancreas4.5
PancreaticIslet6
ParietalLobe7.05
Pituitary7.25
Placenta5.95
Pons5.6
PrefrontalCortex6.95
Prostate6.2
Salivarygland4.7
SkeletalMuscle7.9
Skin5.05
SmoothMuscle6.6
Spinalcord6.2
SubthalamicNucleus5.45
SuperiorCervicalGanglion10.6
TemporalLobe5.85
Testis4.95
TestisGermCell4.8
TestisIntersitial4.95
TestisLeydigCell7.2
TestisSeminiferousTubule6.05
Thalamus7.8
Thymus4.4
Thyroid6.85
Tongue5.65
Tonsil5.65
Trachea4.85
TrigeminalGanglion8.6
Uterus4.55
UterusCorpus5.55
WholeBlood6.25
Wholebrain4.6
colon5.75
pineal_day7.04
pineal_night7.16
retina6.425
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9469_PI416261804
  • 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
Amygdala5.61 ± 0.53
Basal Forebrain5.23 ± 0.22
Basal Part of Pons5.72 ± 0.35
Cerebellar Cortex4.41 ± 0.58
Cerebellar Nuclei3.9 ± 0.39
Claustrum6.37 ± 0.57
Epithalamus3.88 ± 0.98
Frontal Lobe5.18 ± 0.61
Globus Pallidus4.06 ± 1.56
Hypothalamus4.36 ± 0.78
Insula5.21 ± 0.36
Limbic Lobe5.54 ± 0.56
Mesencephalon5.05 ± 0.93
Myelencephalon5.12 ± 0.76
Occipital Lobe5.36 ± 0.5
Parietal Lobe5.4 ± 0.73
Pontine Tegmentum5.11 ± 0.77
Striatum6.14 ± 0.4
Subthalamus4.06 ± 0.73
Temporal Lobe5.31 ± 0.62
Thalamus5.64 ± 0.43
White Matter3.44 ± 0.84
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnq3CBCerebellum10.04
14.65
Kcnq3CTXCerebral cortex100
100
Kcnq3HIPHippocampal region99.51
100
Kcnq3HPFHippocampal formation96.96
100
Kcnq3HYHypothalamus13.85
12.62
Kcnq3LSXLateral septal complex16.27
17.07
Kcnq3MBMidbrain22.21
22.33
Kcnq3MYMedulla23.99
27.48
Kcnq3OLFOlfactory bulb80.71
94.98
Kcnq3PPons18.61
21.22
Kcnq3PALPallidum33.02
34.51
Kcnq3RHPRetrohippocampal region94.44
100
Kcnq3sAMYStriatum-like amygdalar nuclei40.2
35.68
Kcnq3STRStriatum100
100
Kcnq3STRdStriatum dorsal region100
100
Kcnq3STRvStriatum ventral region96.16
92.7
Kcnq3THThalamus97.42
100
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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