AutismKB 2.0

Annotation Detail for KCNN4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KCNN4 ( IK1,IKCA1,KCA4,KCa3.1,SK4,hIKCa1,hKCa4,hSK4 )
Gene Full Name: potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
Band: 19q13.31
Quick LinksEntrez ID:3783; OMIM: 602754; Uniprot ID:KCNN4_HUMAN; ENSEMBL ID: ENSG00000104783; HGNC ID: 6293
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 body2 / 7076128
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult86 / 193912144
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor12 / 119369100
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal72 / 336030721
ovarian tumor3 / 7668239
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites8 / 40015199
bladder0 / 297570 
blood3 / 12347824
bone3 / 7165541
bone marrow3 / 4880161
brain5 / 11009894
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye8 / 21105437
heart0 / 896260 
intestine7 / 23447229
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph2 / 4427045
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta33 / 280825117
prostate13 / 18934568
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach6 / 9661962
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204401_at
Cell line Expression level Expression bar
721_B_lymphoblasts194.55
Adipocyte29.25
AdrenalCortex29.1
Adrenalgland25.55
Amygdala28.85
Appendix27.75
AtrioventricularNode21.15
BDCA4+_DentriticCells29.5
Bonemarrow42.3
BronchialEpithelialCells63.8
CD105+_Endothelial124.75
CD14+_Monocytes62.95
CD19+_BCells(neg._sel.)255.45
CD33+_Myeloid65.7
CD34+233.15
CD4+_Tcells38.65
CD56+_NKCells26.75
CD71+_EarlyErythroid634.05
CD8+_Tcells79.5
CardiacMyocytes36.05
Caudatenucleus24.85
Cerebellum28.7
CerebellumPeduncles33.3
CiliaryGanglion20.15
CingulateCortex28.35
Colorectaladenocarcinoma84
DorsalRootGanglion21.35
FetalThyroid26.8
Fetalbrain27.2
Fetalliver35.9
Fetallung22.35
GlobusPallidus23.3
Heart36.75
Hypothalamus29.5
Kidney22.85
Leukemia_chronicMyelogenousK-56225
Leukemia_promyelocytic-HL-6023.8
Leukemialymphoblastic(MOLT-4)26.05
Liver43.2
Lung30.05
Lymphnode47.2
Lymphoma_burkitts(Daudi)38.25
Lymphoma_burkitts(Raji)44.8
MedullaOblongata25.4
OccipitalLobe24.65
OlfactoryBulb21.75
Ovary19.25
Pancreas22.6
PancreaticIslet29.5
ParietalLobe37.55
Pituitary37.8
Placenta199.05
Pons26.3
PrefrontalCortex34.1
Prostate47.25
Salivarygland65.1
SkeletalMuscle32.4
Skin22.25
SmoothMuscle31.35
Spinalcord29.7
SubthalamicNucleus33.15
SuperiorCervicalGanglion31.05
TemporalLobe25.3
Testis23.65
TestisGermCell22.9
TestisIntersitial23.05
TestisLeydigCell27.05
TestisSeminiferousTubule23.65
Thalamus28.75
Thymus22.15
Thyroid37.05
Tongue27.1
Tonsil35.5
Trachea236
TrigeminalGanglion28.1
Uterus22.75
UterusCorpus26.45
WholeBlood30.25
Wholebrain23.25
colon28.05
pineal_day31.4
pineal_night25.48
retina33.225
small_intestine26.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15827_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
Amygdala2.29 ± 1.08
Basal Forebrain1.84 ± 0.25
Basal Part of Pons1.55 ± 0.34
Cerebellar Cortex1.53 ± 0.64
Cerebellar Nuclei2.15 ± 0.75
Claustrum2.73 ± 0.9
Epithalamus1.58 ± 0.79
Frontal Lobe1.8 ± 0.71
Globus Pallidus2.36 ± 0.37
Hypothalamus1.92 ± 0.75
Insula1.53 ± 0.61
Limbic Lobe1.83 ± 0.63
Mesencephalon2 ± 0.66
Myelencephalon1.89 ± 0.67
Occipital Lobe1.92 ± 0.85
Parietal Lobe1.87 ± 0.66
Pontine Tegmentum1.93 ± 0.77
Striatum2.01 ± 0.6
Subthalamus2.12 ± 0.78
Temporal Lobe1.8 ± 0.7
Thalamus1.81 ± 0.65
White Matter2.17 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnn4CBCerebellum12.82
17.09
Kcnn4CTXCerebral cortex39.61
27.53
Kcnn4HIPHippocampal region11.32
10.46
Kcnn4HPFHippocampal formation13.91
12.21
Kcnn4HYHypothalamus11.83
9.06
Kcnn4LSXLateral septal complex2.42
1.46
Kcnn4MBMidbrain9.35
8.63
Kcnn4MYMedulla15.12
16.38
Kcnn4OLFOlfactory bulb25.39
19.25
Kcnn4PPons8.55
9.87
Kcnn4PALPallidum9.41
7.73
Kcnn4RHPRetrohippocampal region18.83
14.88
Kcnn4sAMYStriatum-like amygdalar nuclei12.8
8.6
Kcnn4STRStriatum8.52
5.51
Kcnn4STRdStriatum dorsal region8.91
5.69
Kcnn4STRvStriatum ventral region8.13
5.3
Kcnn4THThalamus15.88
11.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00035587 15 403 417 LDALTELLSTALGPR Peptide Atlas

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