AutismKB 2.0

Annotation Detail for KDM6A


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Basic Information Top
Gene Symbol:KDM6A ( DKFZp686A03225,MGC141941,UTX,bA386N14.2 )
Gene Full Name: lysine (K)-specific demethylase 6A
Band: Xp11.3
Quick LinksEntrez ID:7403; OMIM: 300128; Uniprot ID:KDM6A_HUMAN; ENSEMBL ID: ENSG00000147050; HGNC ID: 12637
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 body6 / 7076184
blastocyst2 / 6231932
fetus47 / 56401283
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult67 / 193912134
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal140 / 336030741
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer14 / 102680136
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus2 / 2020998
eye3 / 21105414
heart10 / 89626111
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver5 / 20774324
lung11 / 33697432
lymph1 / 4427022
lymph node6 / 9161065
mammary gland10 / 15327165
mouth3 / 6705244
muscle3 / 10771527
nerve1 / 1576863
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate18 / 18934595
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis10 / 33044230
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203992_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.1
Adipocyte7.8
AdrenalCortex9.85
Adrenalgland6.65
Amygdala8.95
Appendix8
AtrioventricularNode7.2
BDCA4+_DentriticCells31.3
Bonemarrow9.45
BronchialEpithelialCells42.4
CD105+_Endothelial18.85
CD14+_Monocytes15.25
CD19+_BCells(neg._sel.)41.9
CD33+_Myeloid32.05
CD34+11.6
CD4+_Tcells27.7
CD56+_NKCells32
CD71+_EarlyErythroid39.75
CD8+_Tcells82.6
CardiacMyocytes11.25
Caudatenucleus6.15
Cerebellum6.55
CerebellumPeduncles9.4
CiliaryGanglion6.35
CingulateCortex8.3
Colorectaladenocarcinoma8.4
DorsalRootGanglion6.5
FetalThyroid7.45
Fetalbrain8.3
Fetalliver27.8
Fetallung23.5
GlobusPallidus5.4
Heart11.65
Hypothalamus9.2
Kidney6.95
Leukemia_chronicMyelogenousK-56224
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)16.3
Liver10.7
Lung8.7
Lymphnode17.9
Lymphoma_burkitts(Daudi)28.95
Lymphoma_burkitts(Raji)11.7
MedullaOblongata7.05
OccipitalLobe6.95
OlfactoryBulb10.5
Ovary20.55
Pancreas8.25
PancreaticIslet14.3
ParietalLobe8.75
Pituitary9.25
Placenta16.75
Pons7.9
PrefrontalCortex13.2
Prostate9.35
Salivarygland10
SkeletalMuscle10.55
Skin7.15
SmoothMuscle10
Spinalcord8.8
SubthalamicNucleus7.2
SuperiorCervicalGanglion10.75
TemporalLobe7.1
Testis7
TestisGermCell8.9
TestisIntersitial8
TestisLeydigCell13.4
TestisSeminiferousTubule9.4
Thalamus7.3
Thymus21.15
Thyroid13.75
Tongue8.25
Tonsil10.5
Trachea8
TrigeminalGanglion8.85
Uterus13.95
UterusCorpus7.75
WholeBlood56.15
Wholebrain5.95
colon9.8
pineal_day9.84
pineal_night9.56
retina9.325
small_intestine8.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14591_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
Amygdala4.64 ± 0.51
Basal Forebrain4.85 ± 0.27
Basal Part of Pons4.49 ± 0.42
Cerebellar Cortex5.05 ± 0.23
Cerebellar Nuclei4.57 ± 0.41
Claustrum4.82 ± 0.63
Epithalamus5.21 ± 0.19
Frontal Lobe4.61 ± 0.46
Globus Pallidus4.86 ± 0.48
Hypothalamus4.6 ± 0.53
Insula4.69 ± 0.28
Limbic Lobe4.76 ± 0.58
Mesencephalon4.75 ± 0.46
Myelencephalon4.71 ± 0.54
Occipital Lobe4.81 ± 0.39
Parietal Lobe4.69 ± 0.59
Pontine Tegmentum4.85 ± 0.43
Striatum4.52 ± 0.36
Subthalamus4.35 ± 0.03
Temporal Lobe4.69 ± 0.34
Thalamus4.71 ± 0.58
White Matter6.38 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
UtxCBCerebellum47.68
51.82
UtxCTXCerebral cortex36.64
24.87
UtxHIPHippocampal region31.01
37.64
UtxHPFHippocampal formation32.71
33.21
UtxHYHypothalamus18.25
14.23
UtxLSXLateral septal complex33.77
23.13
UtxMBMidbrain15.64
13.36
UtxMYMedulla23.31
23.04
UtxOLFOlfactory bulb60.14
53.01
UtxPPons16.49
15.96
UtxPALPallidum16.04
12.89
UtxRHPRetrohippocampal region34.62
26.03
UtxsAMYStriatum-like amygdalar nuclei29.11
20.49
UtxSTRStriatum26.73
18.95
UtxSTRdStriatum dorsal region20.32
14.46
UtxSTRvStriatum ventral region42.84
29.25
UtxTHThalamus27.65
23.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027638 22 3 24 SCGVSLATAAAAAAAFGDEEKK 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


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