AutismKB 2.0

Annotation Detail for CEP57


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Basic Information Top
Gene Symbol:CEP57 ( KIAA0092,PIG8,TSP57 )
Gene Full Name: centrosomal protein 57kDa
Band: 11q21
Quick LinksEntrez ID:9702; OMIM: 607951; Uniprot ID:CEP57_HUMAN; ENSEMBL ID: ENSG00000166037; HGNC ID: 30794
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 body7 / 7076198
blastocyst6 / 6231996
fetus46 / 56401281
neonate3 / 3109796
infant0 / 236200 
juvenile2 / 5555635
adult127 / 193912165
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor12 / 34366349
chondrosarcoma8 / 8282396
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor13 / 26384549
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia8 / 9584283
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal218 / 336030764
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder2 / 2975767
blood11 / 12347889
bone8 / 71655111
bone marrow6 / 48801122
brain37 / 110098933
cervix12 / 48171249
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue20 / 21572292
esophagus3 / 20209148
eye9 / 21105442
heart6 / 8962666
intestine6 / 23447225
kidney10 / 21177747
larynx0 / 241450 
liver11 / 20774352
lung16 / 33697447
lymph0 / 442700 
lymph node18 / 91610196
mammary gland7 / 15327145
mouth1 / 6705214
muscle8 / 10771574
nerve2 / 15768126
ovary5 / 10205148
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta15 / 28082553
prostate8 / 18934542
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach6 / 9661962
testis27 / 33044281
thymus11 / 81131135
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203494_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts183.3
Adipocyte6.55
AdrenalCortex7.15
Adrenalgland5.5
Amygdala6.1
Appendix8.35
AtrioventricularNode5.2
BDCA4+_DentriticCells88.95
Bonemarrow6.6
BronchialEpithelialCells16.8
CD105+_Endothelial249.8
CD14+_Monocytes76.6
CD19+_BCells(neg._sel.)173.05
CD33+_Myeloid28.95
CD34+186.5
CD4+_Tcells121.6
CD56+_NKCells146.25
CD71+_EarlyErythroid155.65
CD8+_Tcells107.65
CardiacMyocytes8.8
Caudatenucleus5.95
Cerebellum5.2
CerebellumPeduncles8.15
CiliaryGanglion5
CingulateCortex7.2
Colorectaladenocarcinoma13.45
DorsalRootGanglion6.75
FetalThyroid11.45
Fetalbrain39.9
Fetalliver16
Fetallung9.25
GlobusPallidus5
Heart8.65
Hypothalamus10.85
Kidney5.6
Leukemia_chronicMyelogenousK-562105.9
Leukemia_promyelocytic-HL-6041.7
Leukemialymphoblastic(MOLT-4)78.85
Liver9.1
Lung6.95
Lymphnode12.65
Lymphoma_burkitts(Daudi)33.7
Lymphoma_burkitts(Raji)9.75
MedullaOblongata6.05
OccipitalLobe5.95
OlfactoryBulb5.5
Ovary4.75
Pancreas6
PancreaticIslet32
ParietalLobe7
Pituitary13.65
Placenta6.7
Pons6.25
PrefrontalCortex9.85
Prostate7.65
Salivarygland8.05
SkeletalMuscle8.6
Skin8.65
SmoothMuscle7.8
Spinalcord8.4
SubthalamicNucleus6.6
SuperiorCervicalGanglion8.85
TemporalLobe6.45
Testis5.25
TestisGermCell5.7
TestisIntersitial5.6
TestisLeydigCell6.65
TestisSeminiferousTubule6
Thalamus6.8
Thymus5.25
Thyroid14.85
Tongue6.9
Tonsil8.55
Trachea5.5
TrigeminalGanglion7.25
Uterus8.4
UterusCorpus6.05
WholeBlood42.95
Wholebrain4.9
colon6.65
pineal_day46.34
pineal_night40.48
retina7.65
small_intestine6.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P86822
  • 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
Amygdala6.22 ± 0.38
Basal Forebrain6.3 ± 0.17
Basal Part of Pons6.16 ± 0.22
Cerebellar Cortex6.43 ± 0.17
Cerebellar Nuclei6.05 ± 0.27
Claustrum6.07 ± 0.39
Epithalamus6.45 ± 0.34
Frontal Lobe6.03 ± 0.26
Globus Pallidus5.84 ± 0.28
Hypothalamus6.29 ± 0.17
Insula5.95 ± 0.26
Limbic Lobe6.17 ± 0.27
Mesencephalon6.12 ± 0.37
Myelencephalon6.15 ± 0.27
Occipital Lobe6.39 ± 0.28
Parietal Lobe6.16 ± 0.23
Pontine Tegmentum6.08 ± 0.3
Striatum6.22 ± 0.29
Subthalamus5.87 ± 0.2
Temporal Lobe6.15 ± 0.25
Thalamus5.95 ± 0.17
White Matter6.17 ± 0.05
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cep57CBCerebellum1.6
2.93
Cep57CTXCerebral cortex0.66
1.05
Cep57HIPHippocampal region1.05
1.59
Cep57HPFHippocampal formation0.79
1.15
Cep57HYHypothalamus0.14
0.15
Cep57LSXLateral septal complex0.22
0.16
Cep57MBMidbrain0.45
0.63
Cep57MYMedulla1.62
2.18
Cep57OLFOlfactory bulb0.28
0.73
Cep57PPons0.32
0.38
Cep57PALPallidum0.05
0.03
Cep57RHPRetrohippocampal region0.23
0.42
Cep57sAMYStriatum-like amygdalar nuclei0.17
0.22
Cep57STRStriatum0.14
0.19
Cep57STRdStriatum dorsal region0.12
0.21
Cep57STRvStriatum ventral region0.13
0.12
Cep57THThalamus0.32
0.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01140282 12 231 242 AAELQTGLETNR 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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