AutismKB 2.0

Annotation Detail for KDM5C


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Basic Information Top
Gene Symbol:KDM5C ( DXS1272E,JARID1C,MRXJ,MRXSJ,SMCX,XE169 )
Gene Full Name: lysine (K)-specific demethylase 5C
Band: Xp11.22
Quick LinksEntrez ID:8242; OMIM: 314690; Uniprot ID:KDM5C_HUMAN; ENSEMBL ID: ENSG00000126012; HGNC ID: 11114
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
blastocyst7 / 62319112
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult117 / 193912160
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) tumor11 / 94178116
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor27 / 119369226
germ cell tumor12 / 26384545
glioma3 / 10688328
head and neck tumor17 / 136302124
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal178 / 336030752
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer2 / 10268019
retinoblastoma5 / 46356107
skin tumor1 / 1249498
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood10 / 12347880
bone1 / 7165513
bone marrow2 / 4880140
brain83 / 110098975
cervix3 / 4817162
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus2 / 2020998
eye10 / 21105447
heart0 / 896260 
intestine9 / 23447238
kidney7 / 21177733
larynx2 / 2414582
liver3 / 20774314
lung12 / 33697435
lymph0 / 442700 
lymph node16 / 91610174
mammary gland16 / 153271104
mouth12 / 67052178
muscle9 / 10771583
nerve2 / 15768126
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate9 / 18934547
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach31 / 96619320
testis19 / 33044257
thymus8 / 8113198
thyroid5 / 47473105
tonsil2 / 16999117
trachea5 / 5241395
umbilical cord0 / 136800 
uterus26 / 232878111
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202383_at
Cell line Expression level Expression bar
721_B_lymphoblasts122.4
Adipocyte139.55
AdrenalCortex175.1
Adrenalgland119.7
Amygdala98.15
Appendix134
AtrioventricularNode62.95
BDCA4+_DentriticCells82.75
Bonemarrow119.7
BronchialEpithelialCells118.1
CD105+_Endothelial61.75
CD14+_Monocytes77.8
CD19+_BCells(neg._sel.)98.15
CD33+_Myeloid95.9
CD34+78.3
CD4+_Tcells103.6
CD56+_NKCells84.1
CD71+_EarlyErythroid89.05
CD8+_Tcells74.9
CardiacMyocytes132.95
Caudatenucleus105.2
Cerebellum129.7
CerebellumPeduncles235.4
CiliaryGanglion45.55
CingulateCortex190.3
Colorectaladenocarcinoma175.95
DorsalRootGanglion72.8
FetalThyroid153.5
Fetalbrain114.25
Fetalliver123.15
Fetallung92.4
GlobusPallidus87
Heart154.75
Hypothalamus107.85
Kidney105.1
Leukemia_chronicMyelogenousK-562117
Leukemia_promyelocytic-HL-60116.65
Leukemialymphoblastic(MOLT-4)112.45
Liver159
Lung108.85
Lymphnode113.65
Lymphoma_burkitts(Daudi)150.3
Lymphoma_burkitts(Raji)171.3
MedullaOblongata118.9
OccipitalLobe135.5
OlfactoryBulb122.95
Ovary108.7
Pancreas94.5
PancreaticIslet109.4
ParietalLobe149.8
Pituitary181.65
Placenta206.8
Pons111.6
PrefrontalCortex247.5
Prostate94.4
Salivarygland102.35
SkeletalMuscle134.6
Skin63.05
SmoothMuscle129.2
Spinalcord119.45
SubthalamicNucleus107.15
SuperiorCervicalGanglion139.55
TemporalLobe154.5
Testis99.1
TestisGermCell127.75
TestisIntersitial110.25
TestisLeydigCell155.55
TestisSeminiferousTubule126.95
Thalamus115.7
Thymus90.55
Thyroid98.7
Tongue203.35
Tonsil141.65
Trachea101.2
TrigeminalGanglion128.15
Uterus85
UterusCorpus151.2
WholeBlood122.8
Wholebrain93
colon87.35
pineal_day142.5
pineal_night103.38
retina146.225
small_intestine75.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15415_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
Amygdala7.1 ± 0.42
Basal Forebrain7.4 ± 0.27
Basal Part of Pons7.16 ± 0.22
Cerebellar Cortex7.24 ± 0.2
Cerebellar Nuclei7.18 ± 0.16
Claustrum7.44 ± 0.32
Epithalamus6.91 ± 0.46
Frontal Lobe6.99 ± 0.26
Globus Pallidus7.48 ± 0.25
Hypothalamus6.88 ± 0.36
Insula6.98 ± 0.21
Limbic Lobe7.18 ± 0.31
Mesencephalon7.17 ± 0.37
Myelencephalon7.14 ± 0.32
Occipital Lobe7.39 ± 0.33
Parietal Lobe7.19 ± 0.33
Pontine Tegmentum7.09 ± 0.31
Striatum7.13 ± 0.26
Subthalamus7.2 ± 0.38
Temporal Lobe7.12 ± 0.32
Thalamus7.12 ± 0.21
White Matter8.02 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jarid1cCBCerebellum85.3
100
Jarid1cCTXCerebral cortex100
82.93
Jarid1cHIPHippocampal region50.78
58.32
Jarid1cHPFHippocampal formation67.27
68.16
Jarid1cHYHypothalamus14.44
11.76
Jarid1cLSXLateral septal complex20.46
16.16
Jarid1cMBMidbrain35.64
34.34
Jarid1cMYMedulla42.9
48.75
Jarid1cOLFOlfactory bulb90.94
88.3
Jarid1cPPons29.87
30.67
Jarid1cPALPallidum29.72
26.07
Jarid1cRHPRetrohippocampal region97.45
84.17
Jarid1csAMYStriatum-like amygdalar nuclei40.49
29.96
Jarid1cSTRStriatum54.06
40.18
Jarid1cSTRdStriatum dorsal region60.81
45.79
Jarid1cSTRvStriatum ventral region53.88
37.46
Jarid1cTHThalamus25.2
23.06
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00076821 13 378 390 RPPEAFGFEQATR 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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