AutismKB 2.0

Annotation Detail for KCNMA1


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Basic Information Top
Gene Symbol:KCNMA1 ( BKTM,DKFZp686K1437,KCa1.1,MGC71881,MaxiK,SAKCA,SLO,SLO-ALPHA,SLO1,bA205K10.1,mSLO1 )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Band: 10q22.3
Quick LinksEntrez ID:3778; OMIM: 600150; Uniprot ID:KCMA1_HUMAN; ENSEMBL ID: ENSG00000156113; HGNC ID: 6284
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 body7 / 7076198
blastocyst0 / 623190 
fetus20 / 56401235
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult138 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma8 / 10688374
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal192 / 336030757
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone7 / 7165597
bone marrow0 / 488010 
brain68 / 110098961
cervix0 / 481710 
connective tissue31 / 149255207
ear2 / 16212123
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye4 / 21105418
heart0 / 896260 
intestine6 / 23447225
kidney10 / 21177747
larynx0 / 241450 
liver4 / 20774319
lung10 / 33697429
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth2 / 6705229
muscle9 / 10771583
nerve0 / 157680 
ovary1 / 1020519
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate25 / 189345132
salivary gland4 / 20155198
skin4 / 21057418
spleen1 / 5395218
stomach1 / 9661910
testis17 / 33044251
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus37 / 232878158
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221583_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.5
Adipocyte5.75
AdrenalCortex7.15
Adrenalgland5.15
Amygdala6.1
Appendix6.9
AtrioventricularNode5.7
BDCA4+_DentriticCells5.95
Bonemarrow6.2
BronchialEpithelialCells5.75
CD105+_Endothelial5.8
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid7.1
CD34+6.95
CD4+_Tcells5.95
CD56+_NKCells6.65
CD71+_EarlyErythroid5.4
CD8+_Tcells5.1
CardiacMyocytes8
Caudatenucleus5.25
Cerebellum4.9
CerebellumPeduncles6.85
CiliaryGanglion5.3
CingulateCortex6.6
Colorectaladenocarcinoma5.65
DorsalRootGanglion5.2
FetalThyroid5.7
Fetalbrain5.8
Fetalliver5.1
Fetallung4.45
GlobusPallidus4.45
Heart8.75
Hypothalamus6.1
Kidney5.15
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.55
Liver8.3
Lung6.4
Lymphnode5
Lymphoma_burkitts(Daudi)7.6
Lymphoma_burkitts(Raji)8.55
MedullaOblongata5.45
OccipitalLobe5.15
OlfactoryBulb4.55
Ovary4.1
Pancreas4.8
PancreaticIslet6.35
ParietalLobe6.8
Pituitary6.9
Placenta5.8
Pons5.65
PrefrontalCortex7
Prostate7.3
Salivarygland6.5
SkeletalMuscle8.1
Skin5
SmoothMuscle6.3
Spinalcord6.25
SubthalamicNucleus5.55
SuperiorCervicalGanglion10.15
TemporalLobe5.6
Testis4.85
TestisGermCell4.75
TestisIntersitial5.1
TestisLeydigCell6.05
TestisSeminiferousTubule6.15
Thalamus5.8
Thymus4.6
Thyroid7
Tongue6.15
Tonsil5.75
Trachea4.9
TrigeminalGanglion6.8
Uterus7.75
UterusCorpus5.9
WholeBlood6.4
Wholebrain5.25
colon9.15
pineal_day10.5
pineal_night15.96
retina6.95
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P181222
  • 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
Amygdala6.99 ± 0.4
Basal Forebrain6.41 ± 0.29
Basal Part of Pons6.81 ± 0.31
Cerebellar Cortex6.54 ± 0.36
Cerebellar Nuclei6.2 ± 0.48
Claustrum6.86 ± 0.63
Epithalamus7.17 ± 0.76
Frontal Lobe6.98 ± 0.48
Globus Pallidus5.49 ± 0.56
Hypothalamus6.5 ± 0.53
Insula6.99 ± 0.21
Limbic Lobe6.87 ± 0.49
Mesencephalon6.51 ± 0.57
Myelencephalon6.63 ± 0.58
Occipital Lobe6.36 ± 0.6
Parietal Lobe6.92 ± 0.52
Pontine Tegmentum6.75 ± 0.68
Striatum6.22 ± 0.77
Subthalamus6.42 ± 0.49
Temporal Lobe7.1 ± 0.37
Thalamus6.6 ± 0.51
White Matter4.87 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnma1CBCerebellum27.94
100
Kcnma1CTXCerebral cortex100
100
Kcnma1HIPHippocampal region56.06
100
Kcnma1HPFHippocampal formation75.49
100
Kcnma1HYHypothalamus6.82
6.4
Kcnma1LSXLateral septal complex11.96
12.48
Kcnma1MBMidbrain13.46
14.66
Kcnma1MYMedulla17.27
22.16
Kcnma1OLFOlfactory bulb84.07
100
Kcnma1PPons12.68
14.99
Kcnma1PALPallidum8.09
8.21
Kcnma1RHPRetrohippocampal region100
100
Kcnma1sAMYStriatum-like amygdalar nuclei12.67
11.91
Kcnma1STRStriatum20.7
17.06
Kcnma1STRdStriatum dorsal region22.28
18.07
Kcnma1STRvStriatum ventral region22.94
17.85
Kcnma1THThalamus84.94
97.67
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCMA1_HUMAN_977 13 977 989 SSPDNSPVHGMLR PRIDE

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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