AutismKB 2.0

Annotation Detail for CEP250


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Basic Information Top
Gene Symbol:CEP250 ( C-NAP1,CEP2,CNAP1,MGC88542 )
Gene Full Name: centrosomal protein 250kDa
Band: 20q11.22
Quick LinksEntrez ID:11190; OMIM: 609689; Uniprot ID:CP250_HUMAN; ENSEMBL ID: ENSG00000126001; HGNC ID: 1859
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 body4 / 7076156
blastocyst0 / 623190 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult64 / 193912133
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor15 / 114246131
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor13 / 26384549
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal88 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor6 / 12494948
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood8 / 12347864
bone3 / 7165541
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye14 / 21105466
heart1 / 8962611
intestine23 / 23447298
kidney5 / 21177723
larynx2 / 2414582
liver5 / 20774324
lung7 / 33697420
lymph1 / 4427022
lymph node13 / 91610141
mammary gland4 / 15327126
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate9 / 18934547
salivary gland0 / 201550 
skin9 / 21057442
spleen3 / 5395255
stomach0 / 966190 
testis5 / 33044215
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210894_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.5
Adipocyte18.15
AdrenalCortex32.3
Adrenalgland15.75
Amygdala18.4
Appendix20.05
AtrioventricularNode26.2
BDCA4+_DentriticCells18.95
Bonemarrow19.95
BronchialEpithelialCells18.05
CD105+_Endothelial21.1
CD14+_Monocytes16.75
CD19+_BCells(neg._sel.)20.05
CD33+_Myeloid23.6
CD34+24.1
CD4+_Tcells20.65
CD56+_NKCells20.45
CD71+_EarlyErythroid18.3
CD8+_Tcells18.4
CardiacMyocytes25.55
Caudatenucleus16.8
Cerebellum14.9
CerebellumPeduncles21.65
CiliaryGanglion29.3
CingulateCortex20.6
Colorectaladenocarcinoma18.7
DorsalRootGanglion35.15
FetalThyroid20.8
Fetalbrain18.2
Fetalliver15.75
Fetallung13.05
GlobusPallidus14.75
Heart22.85
Hypothalamus19.25
Kidney16
Leukemia_chronicMyelogenousK-56216.95
Leukemia_promyelocytic-HL-6016.5
Leukemialymphoblastic(MOLT-4)14.8
Liver24.75
Lung19.95
Lymphnode15.1
Lymphoma_burkitts(Daudi)24.5
Lymphoma_burkitts(Raji)26.05
MedullaOblongata16.85
OccipitalLobe16.65
OlfactoryBulb14.6
Ovary23.65
Pancreas15.35
PancreaticIslet19.75
ParietalLobe20.05
Pituitary21.8
Placenta16.1
Pons18.95
PrefrontalCortex22.1
Prostate20.95
Salivarygland20.05
SkeletalMuscle32.75
Skin21.75
SmoothMuscle21.15
Spinalcord19.9
SubthalamicNucleus16.9
SuperiorCervicalGanglion35.85
TemporalLobe20.3
Testis12.85
TestisGermCell15.7
TestisIntersitial15.85
TestisLeydigCell19.65
TestisSeminiferousTubule18.45
Thalamus19.1
Thymus12.4
Thyroid21.65
Tongue25.8
Tonsil18.6
Trachea15.65
TrigeminalGanglion29.25
Uterus15
UterusCorpus18.6
WholeBlood20
Wholebrain11.2
colon18.6
pineal_day22.4
pineal_night19.4
retina23.85
small_intestine17.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P162287
  • 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
Amygdala5.31 ± 0.34
Basal Forebrain5.58 ± 0.26
Basal Part of Pons5.26 ± 0.54
Cerebellar Cortex5.44 ± 0.36
Cerebellar Nuclei4.84 ± 0.61
Claustrum5.59 ± 0.8
Epithalamus5.61 ± 0.56
Frontal Lobe5.08 ± 0.43
Globus Pallidus5.72 ± 0.45
Hypothalamus4.89 ± 0.57
Insula5.23 ± 0.5
Limbic Lobe5.21 ± 0.5
Mesencephalon5.35 ± 0.43
Myelencephalon5.21 ± 0.53
Occipital Lobe5.52 ± 0.43
Parietal Lobe5.31 ± 0.51
Pontine Tegmentum5.26 ± 0.47
Striatum5.42 ± 0.45
Subthalamus5.07 ± 0.29
Temporal Lobe5.3 ± 0.38
Thalamus5.15 ± 0.49
White Matter5.28 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cep250CBCerebellum37.03
46.96
Cep250CTXCerebral cortex100
82.79
Cep250HIPHippocampal region56.75
79.96
Cep250HPFHippocampal formation71.83
80.61
Cep250HYHypothalamus61.1
49.95
Cep250LSXLateral septal complex34.35
23.59
Cep250MBMidbrain65.18
57.58
Cep250MYMedulla54.73
60.31
Cep250OLFOlfactory bulb85
72.99
Cep250PPons62.93
65.25
Cep250PALPallidum59.51
54.76
Cep250RHPRetrohippocampal region99.33
83.87
Cep250sAMYStriatum-like amygdalar nuclei99.7
84.62
Cep250STRStriatum66.29
51.7
Cep250STRdStriatum dorsal region64.46
49.7
Cep250STRvStriatum ventral region69.48
52.82
Cep250THThalamus67.75
58.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CP250_HUMAN_59 9 59 67 LQAKVLQYR PRIDE

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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