AutismKB 2.0

Annotation Detail for CEP290


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Basic Information Top
Gene Symbol:CEP290 ( 3H11Ag,BBS14,CT87,FLJ13615,FLJ21979,JBTS5,JBTS6,KIAA0373,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16 )
Gene Full Name: centrosomal protein 290kDa
Band: 12q21.32
Quick LinksEntrez ID:80184; OMIM: 610142; Uniprot ID:CE290_HUMAN; ENSEMBL ID: ENSG00000198707; HGNC ID: 29021
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 body2 / 7076128
blastocyst6 / 6231996
fetus25 / 56401244
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult37 / 193912119
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 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal83 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine1 / 2344724
kidney10 / 21177747
larynx1 / 2414541
liver6 / 20774328
lung4 / 33697411
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis9 / 33044227
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221683_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.55
Adipocyte10.85
AdrenalCortex20.85
Adrenalgland10.9
Amygdala10.25
Appendix18.45
AtrioventricularNode16.85
BDCA4+_DentriticCells10.9
Bonemarrow14.9
BronchialEpithelialCells11.05
CD105+_Endothelial11.9
CD14+_Monocytes13.1
CD19+_BCells(neg._sel.)13.85
CD33+_Myeloid13.85
CD34+15.5
CD4+_Tcells11.45
CD56+_NKCells12.75
CD71+_EarlyErythroid11.85
CD8+_Tcells10.4
CardiacMyocytes28.3
Caudatenucleus10.15
Cerebellum9.6
CerebellumPeduncles16.4
CiliaryGanglion12.85
CingulateCortex14
Colorectaladenocarcinoma11.05
DorsalRootGanglion12.65
FetalThyroid12.95
Fetalbrain10.3
Fetalliver10.3
Fetallung7.8
GlobusPallidus11
Heart23.95
Hypothalamus11.5
Kidney11.75
Leukemia_chronicMyelogenousK-56210
Leukemia_promyelocytic-HL-6010
Leukemialymphoblastic(MOLT-4)8.35
Liver23.4
Lung12.25
Lymphnode8.8
Lymphoma_burkitts(Daudi)15.65
Lymphoma_burkitts(Raji)20.35
MedullaOblongata10.35
OccipitalLobe10.2
OlfactoryBulb8.75
Ovary11.4
Pancreas10.5
PancreaticIslet13.15
ParietalLobe16.05
Pituitary13.2
Placenta10.4
Pons13.95
PrefrontalCortex13
Prostate12
Salivarygland11.2
SkeletalMuscle28
Skin14.4
SmoothMuscle13.35
Spinalcord11.5
SubthalamicNucleus12.7
SuperiorCervicalGanglion44.25
TemporalLobe12.5
Testis9.4
TestisGermCell8.9
TestisIntersitial10.8
TestisLeydigCell13.5
TestisSeminiferousTubule9.9
Thalamus12.2
Thymus7.8
Thyroid12.05
Tongue16.35
Tonsil11.85
Trachea9.05
TrigeminalGanglion26.65
Uterus9.05
UterusCorpus16.9
WholeBlood12.05
Wholebrain8.25
colon10.9
pineal_day14.34
pineal_night14.14
retina13.325
small_intestine10.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P25463
  • 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
Amygdala7.61 ± 0.25
Basal Forebrain7.63 ± 0.15
Basal Part of Pons7.67 ± 0.36
Cerebellar Cortex7.8 ± 0.24
Cerebellar Nuclei7.53 ± 0.2
Claustrum7.74 ± 0.29
Epithalamus8.31 ± 0.36
Frontal Lobe7.62 ± 0.25
Globus Pallidus7.78 ± 0.16
Hypothalamus7.51 ± 0.29
Insula7.65 ± 0.25
Limbic Lobe7.66 ± 0.3
Mesencephalon7.66 ± 0.29
Myelencephalon7.66 ± 0.31
Occipital Lobe7.92 ± 0.34
Parietal Lobe7.67 ± 0.29
Pontine Tegmentum7.55 ± 0.28
Striatum7.54 ± 0.48
Subthalamus7.48 ± 0.27
Temporal Lobe7.63 ± 0.27
Thalamus7.62 ± 0.22
White Matter8.69 ± 0.06
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cep290CBCerebellum3.93
4.76
Cep290CTXCerebral cortex5.43
3.95
Cep290HIPHippocampal region9.17
8.49
Cep290HPFHippocampal formation8.22
7.11
Cep290HYHypothalamus5.45
3.94
Cep290LSXLateral septal complex2.13
2.2
Cep290MBMidbrain3.81
3.53
Cep290MYMedulla11.62
12.71
Cep290OLFOlfactory bulb7.89
7.44
Cep290PPons11.82
12.42
Cep290PALPallidum4.33
3.28
Cep290RHPRetrohippocampal region5.52
4.38
Cep290sAMYStriatum-like amygdalar nuclei4.5
2.97
Cep290STRStriatum2.93
2.97
Cep290STRdStriatum dorsal region2.01
2.54
Cep290STRvStriatum ventral region4.66
3.65
Cep290THThalamus7.32
5.26
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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