AutismKB 2.0

Annotation Detail for CDKL5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CDKL5 ( ISSX,STK9 )
Gene Full Name: cyclin-dependent kinase-like 5
Band: Xp22.13
Quick LinksEntrez ID:6792; OMIM: 300203; Uniprot ID:CDKL5_HUMAN; ENSEMBL ID: ENSG00000008086; HGNC ID: 11411
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 
blastocyst0 / 623190 
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult7 / 19391213
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal34 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain19 / 110098917
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus0 / 811310 
thyroid0 / 474730 
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: 206575_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte4.45
AdrenalCortex4.85
Adrenalgland3.9
Amygdala4.65
Appendix4.55
AtrioventricularNode3.6
BDCA4+_DentriticCells4.75
Bonemarrow4.6
BronchialEpithelialCells4.45
CD105+_Endothelial4.5
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.65
CD34+5.6
CD4+_Tcells4.75
CD56+_NKCells5.2
CD71+_EarlyErythroid4.25
CD8+_Tcells4.3
CardiacMyocytes5.9
Caudatenucleus4.1
Cerebellum3.95
CerebellumPeduncles5.2
CiliaryGanglion3.25
CingulateCortex4.65
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.65
FetalThyroid4.4
Fetalbrain4.5
Fetalliver4
Fetallung3.7
GlobusPallidus3.35
Heart6.15
Hypothalamus4.85
Kidney3.8
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.6
Liver6.1
Lung4.9
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary3.05
Pancreas3.65
PancreaticIslet4.85
ParietalLobe4.85
Pituitary5.3
Placenta4.6
Pons4.3
PrefrontalCortex5.5
Prostate5.25
Salivarygland3.65
SkeletalMuscle5.55
Skin3.6
SmoothMuscle5.15
Spinalcord4.8
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.35
TemporalLobe4.15
Testis3.85
TestisGermCell3.7
TestisIntersitial3.8
TestisLeydigCell4.5
TestisSeminiferousTubule3.85
Thalamus4.6
Thymus3.55
Thyroid5.55
Tongue4.55
Tonsil4.4
Trachea3.75
TrigeminalGanglion4.6
Uterus3.65
UterusCorpus4.45
WholeBlood4.9
Wholebrain3.8
colon4.5
pineal_day5.56
pineal_night5.48
retina5.425
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_153_PI416408490
  • 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
Amygdala7.95 ± 0.59
Basal Forebrain7.92 ± 0.26
Basal Part of Pons8.34 ± 0.48
Cerebellar Cortex7.55 ± 0.22
Cerebellar Nuclei7.13 ± 0.76
Claustrum8.36 ± 0.41
Epithalamus7.83 ± 0.45
Frontal Lobe8.36 ± 0.52
Globus Pallidus6.75 ± 0.96
Hypothalamus7.57 ± 0.34
Insula8.42 ± 0.27
Limbic Lobe8.2 ± 0.63
Mesencephalon7.49 ± 0.59
Myelencephalon8.09 ± 0.46
Occipital Lobe7.71 ± 0.59
Parietal Lobe8.11 ± 0.55
Pontine Tegmentum8.03 ± 0.43
Striatum8.25 ± 0.7
Subthalamus7.68 ± 0.13
Temporal Lobe8.38 ± 0.48
Thalamus8.41 ± 0.48
White Matter7.18 ± 0.68
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00026384 8 151 158 LCDFGFAR 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