AutismKB 2.0

Annotation Detail for CEP350


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Basic Information Top
Gene Symbol:CEP350 ( CAP350,FLJ38282,FLJ44058,GM133,KIAA0480 )
Gene Full Name: centrosomal protein 350kDa
Band: 1q25.2
Quick LinksEntrez ID:9857; OMIM: NA; Uniprot ID:CE350_HUMAN; ENSEMBL ID: ENSG00000135837; HGNC ID: 24238
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 body6 / 7076184
blastocyst3 / 6231948
fetus43 / 56401276
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult121 / 193912162
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor27 / 263845102
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor7 / 9635972
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia0 / 972500 
normal217 / 336030764
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites4 / 4001599
bladder0 / 297570 
blood2 / 12347816
bone5 / 7165569
bone marrow2 / 4880140
brain26 / 110098923
cervix2 / 4817141
connective tissue4 / 14925526
ear3 / 16212185
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye15 / 21105471
heart5 / 8962655
intestine9 / 23447238
kidney15 / 21177770
larynx0 / 241450 
liver17 / 20774381
lung9 / 33697426
lymph3 / 4427067
lymph node18 / 91610196
mammary gland18 / 153271117
mouth4 / 6705259
muscle7 / 10771564
nerve2 / 15768126
ovary4 / 10205139
pancreas13 / 21481260
parathyroid2 / 2053997
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta12 / 28082542
prostate10 / 18934552
salivary gland2 / 2015599
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis51 / 330442154
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus27 / 232878115
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213165_at
Cell line Expression level Expression bar
721_B_lymphoblasts158.6
Adipocyte36.15
AdrenalCortex26
Adrenalgland19.7
Amygdala60.1
Appendix29.75
AtrioventricularNode14.2
BDCA4+_DentriticCells109.5
Bonemarrow18.3
BronchialEpithelialCells31.35
CD105+_Endothelial76.5
CD14+_Monocytes109.8
CD19+_BCells(neg._sel.)105.85
CD33+_Myeloid166.1
CD34+142.3
CD4+_Tcells228.05
CD56+_NKCells153.95
CD71+_EarlyErythroid53.25
CD8+_Tcells174.9
CardiacMyocytes20.4
Caudatenucleus36.3
Cerebellum13.55
CerebellumPeduncles32.4
CiliaryGanglion19.1
CingulateCortex36.3
Colorectaladenocarcinoma30.1
DorsalRootGanglion15.9
FetalThyroid43.5
Fetalbrain52.05
Fetalliver29.8
Fetallung42.2
GlobusPallidus19.6
Heart18.7
Hypothalamus77.3
Kidney9.7
Leukemia_chronicMyelogenousK-56287.4
Leukemia_promyelocytic-HL-6044.85
Leukemialymphoblastic(MOLT-4)98.95
Liver16.2
Lung17.4
Lymphnode99.1
Lymphoma_burkitts(Daudi)51.25
Lymphoma_burkitts(Raji)30.95
MedullaOblongata35.55
OccipitalLobe37.75
OlfactoryBulb31.9
Ovary13.95
Pancreas23.1
PancreaticIslet33.35
ParietalLobe48.65
Pituitary49.65
Placenta32.6
Pons19.85
PrefrontalCortex144.25
Prostate45.4
Salivarygland31.95
SkeletalMuscle41
Skin21.3
SmoothMuscle32.65
Spinalcord57.25
SubthalamicNucleus29.85
SuperiorCervicalGanglion32.55
TemporalLobe35.6
Testis43.9
TestisGermCell231.75
TestisIntersitial252.1
TestisLeydigCell175.9
TestisSeminiferousTubule151.35
Thalamus42.3
Thymus31.7
Thyroid69
Tongue39.4
Tonsil47.45
Trachea18.9
TrigeminalGanglion21
Uterus59.75
UterusCorpus15.65
WholeBlood108.95
Wholebrain23.65
colon15.35
pineal_day83.02
pineal_night66.62
retina32.75
small_intestine25.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5232_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
Amygdala6.76 ± 0.4
Basal Forebrain6.84 ± 0.28
Basal Part of Pons6.32 ± 0.21
Cerebellar Cortex6.6 ± 0.23
Cerebellar Nuclei6.75 ± 0.33
Claustrum7.01 ± 0.33
Epithalamus6.67 ± 0.32
Frontal Lobe6.46 ± 0.35
Globus Pallidus7.56 ± 0.22
Hypothalamus6.46 ± 0.37
Insula6.44 ± 0.3
Limbic Lobe6.57 ± 0.38
Mesencephalon6.8 ± 0.39
Myelencephalon6.66 ± 0.4
Occipital Lobe7.07 ± 0.39
Parietal Lobe6.67 ± 0.34
Pontine Tegmentum6.79 ± 0.38
Striatum6.75 ± 0.4
Subthalamus6.69 ± 0.13
Temporal Lobe6.5 ± 0.34
Thalamus6.77 ± 0.26
White Matter7.93 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cep350CBCerebellum2.37
2.37
Cep350CTXCerebral cortex2.54
1.74
Cep350HIPHippocampal region1.63
1.56
Cep350HPFHippocampal formation1.73
1.48
Cep350HYHypothalamus0.33
0.53
Cep350LSXLateral septal complex0
0
Cep350MBMidbrain0.53
0.85
Cep350MYMedulla3.04
3.15
Cep350OLFOlfactory bulb0.75
0.49
Cep350PPons1.61
1.83
Cep350PALPallidum1.1
0.99
Cep350RHPRetrohippocampal region1.94
1.4
Cep350sAMYStriatum-like amygdalar nuclei0.62
0.42
Cep350STRStriatum0.77
0.73
Cep350STRdStriatum dorsal region0.89
0.92
Cep350STRvStriatum ventral region0.52
0.38
Cep350THThalamus0.85
0.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00505031 25 1143 1167 SAYDPSSVDVTSQHSSGAQSAASSR 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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