AutismKB 2.0

Annotation Detail for KCNH3


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Basic Information Top
Gene Symbol:KCNH3 ( BEC1,ELK2,KIAA1282,Kv12.2 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 3
Band: 12q13.12
Quick LinksEntrez ID:23416; OMIM: 604527; Uniprot ID:KCNH3_HUMAN; ENSEMBL ID: ENSG00000135519; HGNC ID: 6252
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult8 / 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 tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal15 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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 
brain9 / 11009898
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1499_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
Amygdala4.78 ± 0.43
Basal Forebrain3.4 ± 0.42
Basal Part of Pons3.65 ± 0.66
Cerebellar Cortex3.42 ± 0.5
Cerebellar Nuclei3.47 ± 0.59
Claustrum4.03 ± 0.9
Epithalamus3.47 ± 0.73
Frontal Lobe4.13 ± 0.78
Globus Pallidus2.2 ± 1.19
Hypothalamus3.52 ± 0.63
Insula4.24 ± 0.64
Limbic Lobe4.44 ± 0.71
Mesencephalon3.82 ± 0.85
Myelencephalon3.9 ± 0.73
Occipital Lobe3.78 ± 0.67
Parietal Lobe4.12 ± 0.71
Pontine Tegmentum3.95 ± 0.7
Striatum3.97 ± 0.88
Subthalamus4.3 ± 2.02
Temporal Lobe4.34 ± 0.62
Thalamus3.38 ± 0.81
White Matter1.91 ± 0.88
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnh3CBCerebellum0.49
0.6
Kcnh3CTXCerebral cortex18.02
14.1
Kcnh3HIPHippocampal region6.56
8.83
Kcnh3HPFHippocampal formation7.17
7.72
Kcnh3HYHypothalamus0.16
0.14
Kcnh3LSXLateral septal complex1.34
1.76
Kcnh3MBMidbrain0.58
0.67
Kcnh3MYMedulla0.37
0.44
Kcnh3OLFOlfactory bulb17.7
17.01
Kcnh3PPons0.13
0.18
Kcnh3PALPallidum0.54
0.52
Kcnh3RHPRetrohippocampal region7.86
6.42
Kcnh3sAMYStriatum-like amygdalar nuclei3.11
2.27
Kcnh3STRStriatum2.89
2.2
Kcnh3STRdStriatum dorsal region2.95
2.04
Kcnh3STRvStriatum ventral region3.21
2.81
Kcnh3THThalamus0.36
0.34
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