AutismKB 2.0

Annotation Detail for KCNH4


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Basic Information Top
Gene Symbol:KCNH4 ( BEC2,ELK1,Kv12.3 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 4
Band: 17q21.2
Quick LinksEntrez ID:23415; OMIM: 604528; Uniprot ID:KCNH4_HUMAN; ENSEMBL ID: ENSG00000089558; HGNC ID: 6253
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 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal4 / 33603071
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 220802_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.5
Adipocyte3.6
AdrenalCortex3.8
Adrenalgland3.05
Amygdala3.75
Appendix3.6
AtrioventricularNode2.75
BDCA4+_DentriticCells4.05
Bonemarrow3.55
BronchialEpithelialCells3.55
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid4.7
CD34+4.6
CD4+_Tcells3.95
CD56+_NKCells4.4
CD71+_EarlyErythroid3.35
CD8+_Tcells3.55
CardiacMyocytes4.45
Caudatenucleus3.25
Cerebellum2.95
CerebellumPeduncles4.1
CiliaryGanglion2.55
CingulateCortex3.7
Colorectaladenocarcinoma3.6
DorsalRootGanglion2.75
FetalThyroid3.5
Fetalbrain3.65
Fetalliver3.1
Fetallung3.05
GlobusPallidus2.75
Heart4.45
Hypothalamus4
Kidney2.9
Leukemia_chronicMyelogenousK-5623.3
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)3
Liver4.7
Lung4.05
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)4.95
MedullaOblongata3.35
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary2.4
Pancreas2.9
PancreaticIslet3.9
ParietalLobe3.9
Pituitary4.25
Placenta3.75
Pons3.45
PrefrontalCortex4.5
Prostate4.25
Salivarygland2.9
SkeletalMuscle4.2
Skin2.7
SmoothMuscle4.15
Spinalcord3.9
SubthalamicNucleus3.65
SuperiorCervicalGanglion4.1
TemporalLobe3.3
Testis3.15
TestisGermCell3.05
TestisIntersitial3.05
TestisLeydigCell3.55
TestisSeminiferousTubule3.1
Thalamus3.7
Thymus2.85
Thyroid4.5
Tongue3.45
Tonsil3.5
Trachea3.05
TrigeminalGanglion3.5
Uterus2.95
UterusCorpus3.25
WholeBlood3.95
Wholebrain3.05
colon3.6
pineal_day4.52
pineal_night4.42
retina4.375
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_377_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
Amygdala4.16 ± 0.71
Basal Forebrain4.41 ± 0.6
Basal Part of Pons3.93 ± 0.78
Cerebellar Cortex3.54 ± 0.55
Cerebellar Nuclei4.26 ± 0.66
Claustrum4.66 ± 0.78
Epithalamus3.58 ± 0.41
Frontal Lobe3.96 ± 0.72
Globus Pallidus4.85 ± 0.62
Hypothalamus3.67 ± 0.84
Insula3.79 ± 0.56
Limbic Lobe4.12 ± 0.73
Mesencephalon4.22 ± 0.75
Myelencephalon4.08 ± 0.79
Occipital Lobe4.2 ± 0.72
Parietal Lobe4.02 ± 0.67
Pontine Tegmentum3.87 ± 0.61
Striatum4.93 ± 0.53
Subthalamus3.25 ± 0.77
Temporal Lobe3.88 ± 0.72
Thalamus3.98 ± 0.72
White Matter4.74 ± 0.78
Mouse Brain ISH
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