AutismKB 2.0

Annotation Detail for CEP120


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Basic Information Top
Gene Symbol:CEP120 ( CCDC100,DKFZp686I06246,FLJ36090,FLJ38327 )
Gene Full Name: centrosomal protein 120kDa
Band: 5q23.2
Quick LinksEntrez ID:153241; OMIM: 613446; Uniprot ID:CE120_HUMAN; ENSEMBL ID: ENSG00000168944; HGNC ID: 26690
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
blastocyst1 / 6231916
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult40 / 193912120
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal75 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow3 / 4880161
brain22 / 110098919
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph2 / 4427045
lymph node11 / 91610120
mammary gland6 / 15327139
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P226210
  • 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
Amygdala5.68 ± 0.48
Basal Forebrain6.04 ± 0.14
Basal Part of Pons5.83 ± 0.24
Cerebellar Cortex6.22 ± 0.17
Cerebellar Nuclei6.05 ± 0.44
Claustrum6.01 ± 0.39
Epithalamus6.14 ± 0.2
Frontal Lobe5.78 ± 0.28
Globus Pallidus6.07 ± 0.37
Hypothalamus6.18 ± 0.29
Insula5.65 ± 0.23
Limbic Lobe5.98 ± 0.3
Mesencephalon5.96 ± 0.35
Myelencephalon5.96 ± 0.34
Occipital Lobe6.24 ± 0.33
Parietal Lobe5.92 ± 0.3
Pontine Tegmentum5.91 ± 0.33
Striatum6.01 ± 0.42
Subthalamus5.72 ± 0.49
Temporal Lobe5.83 ± 0.33
Thalamus5.85 ± 0.3
White Matter6.56 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AU016693CBCerebellum60.62
91.65
AU016693CTXCerebral cortex21.45
16.07
AU016693HIPHippocampal region24.77
27.43
AU016693HPFHippocampal formation23.51
23.23
AU016693HYHypothalamus36.28
29.97
AU016693LSXLateral septal complex18.62
14.43
AU016693MBMidbrain19.92
18.69
AU016693MYMedulla36.41
41.49
AU016693OLFOlfactory bulb52.42
47.33
AU016693PPons34.3
37.26
AU016693PALPallidum29.39
26.91
AU016693RHPRetrohippocampal region20.88
16.52
AU016693sAMYStriatum-like amygdalar nuclei8.6
7.32
AU016693STRStriatum12.68
10.41
AU016693STRdStriatum dorsal region8.11
7.05
AU016693STRvStriatum ventral region25.59
19.47
AU016693THThalamus25.02
20.03
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