AutismKB 2.0

Annotation Detail for KDM5D


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Basic Information Top
Gene Symbol:KDM5D ( HY,HYA,JARID1D,KIAA0234,SMCY )
Gene Full Name: lysine (K)-specific demethylase 5D
Band: Yq11.223
Quick LinksEntrez ID:8284; OMIM: 426000; Uniprot ID:KDM5D_HUMAN; ENSEMBL ID: ENSG00000012817; HGNC ID: 11115
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 
blastocyst3 / 6231948
fetus3 / 5640125
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult55 / 193912128
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 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal98 / 336030729
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone1 / 7165513
bone marrow1 / 4880120
brain40 / 110098936
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph2 / 4427045
lymph node13 / 91610141
mammary gland1 / 1532716
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate10 / 18934552
salivary gland0 / 201550 
skin1 / 2105744
spleen4 / 5395274
stomach4 / 9661941
testis8 / 33044224
thymus14 / 81131172
thyroid0 / 474730 
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206700_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.5
AdrenalCortex9.45
Adrenalgland45.6
Amygdala33.2
Appendix7.95
AtrioventricularNode6.15
BDCA4+_DentriticCells149.3
Bonemarrow18.8
BronchialEpithelialCells6.2
CD105+_Endothelial13.6
CD14+_Monocytes15.15
CD19+_BCells(neg._sel.)5
CD33+_Myeloid28.45
CD34+183.8
CD4+_Tcells343
CD56+_NKCells74.95
CD71+_EarlyErythroid319.55
CD8+_Tcells67.6
CardiacMyocytes7.1
Caudatenucleus10.75
Cerebellum31.95
CerebellumPeduncles18.45
CiliaryGanglion5.55
CingulateCortex8.9
Colorectaladenocarcinoma6.35
DorsalRootGanglion5.85
FetalThyroid19.1
Fetalbrain7.5
Fetalliver5.95
Fetallung24.1
GlobusPallidus5.4
Heart10.7
Hypothalamus49.15
Kidney12.1
Leukemia_chronicMyelogenousK-5626
Leukemia_promyelocytic-HL-6015.8
Leukemialymphoblastic(MOLT-4)16.9
Liver10.2
Lung18.5
Lymphnode107.4
Lymphoma_burkitts(Daudi)8.25
Lymphoma_burkitts(Raji)43.6
MedullaOblongata20.1
OccipitalLobe19.3
OlfactoryBulb11.75
Ovary5.2
Pancreas7
PancreaticIslet24.85
ParietalLobe15.65
Pituitary9.3
Placenta8.2
Pons7.15
PrefrontalCortex7.9
Prostate22.55
Salivarygland6.05
SkeletalMuscle8.6
Skin5.9
SmoothMuscle7.5
Spinalcord27.2
SubthalamicNucleus6.45
SuperiorCervicalGanglion9.25
TemporalLobe9.05
Testis45.1
TestisGermCell37.5
TestisIntersitial6.15
TestisLeydigCell9.85
TestisSeminiferousTubule21.9
Thalamus7.45
Thymus25.65
Thyroid41
Tongue7.3
Tonsil30.1
Trachea14.5
TrigeminalGanglion7.3
Uterus5.2
UterusCorpus6.65
WholeBlood10.55
Wholebrain17.2
colon6.75
pineal_day54.14
pineal_night83.22
retina35.025
small_intestine6.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14187_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
Amygdala7.57 ± 0.4
Basal Forebrain7.87 ± 0.4
Basal Part of Pons7.44 ± 0.31
Cerebellar Cortex7.39 ± 0.3
Cerebellar Nuclei7.53 ± 0.25
Claustrum7.91 ± 0.37
Epithalamus7.39 ± 0.29
Frontal Lobe7.32 ± 0.39
Globus Pallidus8.12 ± 0.16
Hypothalamus7.34 ± 0.43
Insula7.37 ± 0.31
Limbic Lobe7.49 ± 0.52
Mesencephalon7.55 ± 0.39
Myelencephalon7.51 ± 0.39
Occipital Lobe7.83 ± 0.41
Parietal Lobe7.57 ± 0.41
Pontine Tegmentum7.43 ± 0.51
Striatum7.6 ± 0.4
Subthalamus7.89 ± 0.83
Temporal Lobe7.46 ± 0.38
Thalamus7.48 ± 0.24
White Matter8.61 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jarid1dCBCerebellum14.98
19.27
Jarid1dCTXCerebral cortex11.75
7.9
Jarid1dHIPHippocampal region8.17
8.18
Jarid1dHPFHippocampal formation8.27
7.35
Jarid1dHYHypothalamus6.52
4.92
Jarid1dLSXLateral septal complex7.31
6.74
Jarid1dMBMidbrain9.42
7.99
Jarid1dMYMedulla19.95
20.27
Jarid1dOLFOlfactory bulb23.94
18.17
Jarid1dPPons12.37
11.87
Jarid1dPALPallidum7.19
5.59
Jarid1dRHPRetrohippocampal region8.29
6.08
Jarid1dsAMYStriatum-like amygdalar nuclei6.3
4.07
Jarid1dSTRStriatum10.55
8
Jarid1dSTRdStriatum dorsal region9.68
7.47
Jarid1dSTRvStriatum ventral region15.58
11.02
Jarid1dTHThalamus5.89
4.88
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


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