AutismKB 2.0

Annotation Detail for KDM6B


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Basic Information Top
Gene Symbol:KDM6B ( JMJD3,KIAA0346 )
Gene Full Name: lysine (K)-specific demethylase 6B
Band: 17p13.1
Quick LinksEntrez ID:23135; OMIM: 611577; Uniprot ID:KDM6B_HUMAN; ENSEMBL ID: ENSG00000132510; HGNC ID: 29012
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 body9 / 70761127
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult52 / 193912126
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor5 / 26384518
glioma7 / 10688365
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
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 gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye12 / 21105456
heart2 / 8962622
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung27 / 33697480
lymph1 / 4427022
lymph node5 / 9161054
mammary gland2 / 15327113
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach2 / 9661920
testis3 / 3304429
thymus2 / 8113124
thyroid3 / 4747363
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: 213146_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.75
Adipocyte9
AdrenalCortex14.45
Adrenalgland8.4
Amygdala9.3
Appendix10.85
AtrioventricularNode7.6
BDCA4+_DentriticCells28.25
Bonemarrow12.8
BronchialEpithelialCells6.95
CD105+_Endothelial9.55
CD14+_Monocytes12.7
CD19+_BCells(neg._sel.)10.8
CD33+_Myeloid68.3
CD34+11.45
CD4+_Tcells10.8
CD56+_NKCells10.3
CD71+_EarlyErythroid8.55
CD8+_Tcells14.45
CardiacMyocytes21.6
Caudatenucleus8.5
Cerebellum8.1
CerebellumPeduncles12.2
CiliaryGanglion6.9
CingulateCortex9.95
Colorectaladenocarcinoma15.65
DorsalRootGanglion7.7
FetalThyroid10
Fetalbrain19.95
Fetalliver8.25
Fetallung8
GlobusPallidus7.15
Heart13.85
Hypothalamus9.65
Kidney8
Leukemia_chronicMyelogenousK-5629.15
Leukemia_promyelocytic-HL-608.55
Leukemialymphoblastic(MOLT-4)8.85
Liver12.65
Lung11.35
Lymphnode8.1
Lymphoma_burkitts(Daudi)14.65
Lymphoma_burkitts(Raji)52.65
MedullaOblongata8.4
OccipitalLobe8.25
OlfactoryBulb7.65
Ovary7
Pancreas7.65
PancreaticIslet10.55
ParietalLobe11.1
Pituitary12.5
Placenta11.75
Pons9.7
PrefrontalCortex11.8
Prostate10.9
Salivarygland7.5
SkeletalMuscle11.7
Skin9.3
SmoothMuscle10.4
Spinalcord10
SubthalamicNucleus8.9
SuperiorCervicalGanglion12.7
TemporalLobe8.55
Testis9.35
TestisGermCell11.75
TestisIntersitial8.85
TestisLeydigCell13.2
TestisSeminiferousTubule12.15
Thalamus10.6
Thymus13.6
Thyroid11.25
Tongue9.25
Tonsil9.45
Trachea8.3
TrigeminalGanglion11.25
Uterus7.8
UterusCorpus9
WholeBlood119
Wholebrain8
colon9.65
pineal_day15.86
pineal_night12.48
retina11.925
small_intestine8.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1270_PI416573500
  • 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
Amygdala3.25 ± 1.16
Basal Forebrain2.61 ± 0.27
Basal Part of Pons2.78 ± 0.61
Cerebellar Cortex3.32 ± 0.46
Cerebellar Nuclei2.92 ± 0.64
Claustrum3.41 ± 0.82
Epithalamus2.71 ± 0.59
Frontal Lobe2.73 ± 0.73
Globus Pallidus3.34 ± 1.05
Hypothalamus2.79 ± 0.61
Insula2.38 ± 0.81
Limbic Lobe2.88 ± 0.8
Mesencephalon2.9 ± 0.76
Myelencephalon2.85 ± 0.73
Occipital Lobe2.99 ± 0.74
Parietal Lobe2.96 ± 0.8
Pontine Tegmentum3.03 ± 0.96
Striatum2.9 ± 0.8
Subthalamus3.14 ± 0.7
Temporal Lobe2.83 ± 0.84
Thalamus2.81 ± 0.78
White Matter2.86 ± 0.9
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jmjd3CBCerebellum25.36
29.23
Jmjd3CTXCerebral cortex33.33
24.02
Jmjd3HIPHippocampal region35.69
44.43
Jmjd3HPFHippocampal formation38.38
39.08
Jmjd3HYHypothalamus20.66
14.12
Jmjd3LSXLateral septal complex39.78
26.94
Jmjd3MBMidbrain19.82
16.08
Jmjd3MYMedulla24.38
23.15
Jmjd3OLFOlfactory bulb67.29
59.88
Jmjd3PPons20.59
19.04
Jmjd3PALPallidum18.96
14.44
Jmjd3RHPRetrohippocampal region43.33
33.54
Jmjd3sAMYStriatum-like amygdalar nuclei31.51
23.48
Jmjd3STRStriatum14.73
10.7
Jmjd3STRdStriatum dorsal region6.92
5.02
Jmjd3STRvStriatum ventral region23.35
15.95
Jmjd3THThalamus23.14
17.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00528136 29 1044 1072 AKPPTAPAPPSAPAPSAQPTPPSASVPGK 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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