AutismKB 2.0

Annotation Detail for KCNH2


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Basic Information Top
Gene Symbol:KCNH2 ( ERG1,HERG,HERG1,Kv11.1,LQT2,SQT1 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 2
Band: 7q36.1
Quick LinksEntrez ID:3757; OMIM: 152427; Uniprot ID:KCNH2_HUMAN; ENSEMBL ID: ENSG00000055118; HGNC ID: 6251
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 
blastocyst1 / 6231916
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult37 / 193912119
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 tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor0 / 2638450 
glioma9 / 10688384
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal61 / 336030718
ovarian tumor4 / 7668252
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS34 / 125680270
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
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 gland1 / 3319730
ascites8 / 40015199
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow1 / 4880120
brain47 / 110098942
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye13 / 21105461
heart5 / 8962655
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver3 / 20774314
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary4 / 10205139
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205262_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.7
Adipocyte3.75
AdrenalCortex4.05
Adrenalgland3.2
Amygdala4.95
Appendix3.85
AtrioventricularNode2.95
BDCA4+_DentriticCells4.3
Bonemarrow60.05
BronchialEpithelialCells3.75
CD105+_Endothelial719.65
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.9
CD34+63.9
CD4+_Tcells4.25
CD56+_NKCells4.55
CD71+_EarlyErythroid277.25
CD8+_Tcells4
CardiacMyocytes4.95
Caudatenucleus5.1
Cerebellum8.75
CerebellumPeduncles14.35
CiliaryGanglion2.85
CingulateCortex3.95
Colorectaladenocarcinoma4.15
DorsalRootGanglion2.85
FetalThyroid3.7
Fetalbrain5.4
Fetalliver21.9
Fetallung3.15
GlobusPallidus2.8
Heart122.35
Hypothalamus5.35
Kidney3.05
Leukemia_chronicMyelogenousK-56260.65
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.05
Liver5.85
Lung4.5
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.85
Lymphoma_burkitts(Raji)5.35
MedullaOblongata3.45
OccipitalLobe3.5
OlfactoryBulb3
Ovary2.55
Pancreas3.15
PancreaticIslet8.05
ParietalLobe4
Pituitary48.5
Placenta3.9
Pons4.1
PrefrontalCortex4.95
Prostate4.6
Salivarygland3
SkeletalMuscle4.5
Skin2.9
SmoothMuscle4.3
Spinalcord4.05
SubthalamicNucleus4.6
SuperiorCervicalGanglion4.25
TemporalLobe3.45
Testis64
TestisGermCell72.6
TestisIntersitial3.8
TestisLeydigCell4.2
TestisSeminiferousTubule12.75
Thalamus4.95
Thymus3
Thyroid4.75
Tongue3.75
Tonsil3.7
Trachea3.2
TrigeminalGanglion3.75
Uterus3.55
UterusCorpus3.4
WholeBlood4.1
Wholebrain13.5
colon3.8
pineal_day38.2
pineal_night32.12
retina10.075
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P377882
  • 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
Amygdala4.44 ± 0.78
Basal Forebrain4.75 ± 0.37
Basal Part of Pons5.13 ± 0.15
Cerebellar Cortex5.14 ± 0.27
Cerebellar Nuclei5.09 ± 0.39
Claustrum4.07 ± 0.57
Epithalamus4.49 ± 0.47
Frontal Lobe4.75 ± 0.53
Globus Pallidus4.31 ± 0.45
Hypothalamus4.91 ± 0.29
Insula4.84 ± 0.5
Limbic Lobe4.55 ± 0.49
Mesencephalon4.55 ± 0.54
Myelencephalon4.75 ± 0.52
Occipital Lobe4.32 ± 0.56
Parietal Lobe4.52 ± 0.46
Pontine Tegmentum4.62 ± 0.5
Striatum4.36 ± 0.43
Subthalamus5.11 ± 0.41
Temporal Lobe4.8 ± 0.45
Thalamus5.03 ± 0.46
White Matter4 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnh2CBCerebellum3.73
4.1
Kcnh2CTXCerebral cortex0.45
0.52
Kcnh2HIPHippocampal region0.63
0.88
Kcnh2HPFHippocampal formation0.51
0.71
Kcnh2HYHypothalamus0.24
0.25
Kcnh2LSXLateral septal complex0
0
Kcnh2MBMidbrain1.74
1.95
Kcnh2MYMedulla6.29
7.23
Kcnh2OLFOlfactory bulb5.26
5.03
Kcnh2PPons3.72
4.35
Kcnh2PALPallidum0.3
0.32
Kcnh2RHPRetrohippocampal region0.26
0.37
Kcnh2sAMYStriatum-like amygdalar nuclei0.35
0.29
Kcnh2STRStriatum0.87
0.96
Kcnh2STRdStriatum dorsal region0.64
0.72
Kcnh2STRvStriatum ventral region2.27
2.29
Kcnh2THThalamus0.63
0.58
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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