AutismKB 2.0

Annotation Detail for CDC42EP1


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Basic Information Top
Gene Symbol:CDC42EP1 ( BORG5,CEP1,MGC15316,MSE55 )
Gene Full Name: CDC42 effector protein (Rho GTPase binding) 1
Band: 22q13.1
Quick LinksEntrez ID:11135; OMIM: 606084; Uniprot ID:BORG5_HUMAN; ENSEMBL ID: ENSG00000128283; HGNC ID: 17014
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 body10 / 70761141
blastocyst1 / 6231916
fetus3 / 5640125
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult81 / 193912141
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor20 / 119369167
germ cell tumor4 / 26384515
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia7 / 9725071
normal105 / 336030731
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites10 / 40015249
bladder2 / 2975767
blood0 / 1234780 
bone11 / 71655153
bone marrow2 / 4880140
brain46 / 110098941
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine16 / 23447268
kidney3 / 21177714
larynx1 / 2414541
liver6 / 20774328
lung16 / 33697447
lymph1 / 4427022
lymph node0 / 916100 
mammary gland9 / 15327158
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary6 / 10205158
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate6 / 18934531
salivary gland2 / 2015599
skin11 / 21057452
spleen0 / 539520 
stomach14 / 96619144
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204693_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.45
Adipocyte44.75
AdrenalCortex38.6
Adrenalgland56.5
Amygdala75.65
Appendix30.2
AtrioventricularNode33.45
BDCA4+_DentriticCells10.6
Bonemarrow26.75
BronchialEpithelialCells24.4
CD105+_Endothelial13.85
CD14+_Monocytes17.3
CD19+_BCells(neg._sel.)15.3
CD33+_Myeloid26.8
CD34+10.2
CD4+_Tcells14
CD56+_NKCells11
CD71+_EarlyErythroid22.9
CD8+_Tcells11.45
CardiacMyocytes79.15
Caudatenucleus34.5
Cerebellum22.65
CerebellumPeduncles29.65
CiliaryGanglion23.35
CingulateCortex33.2
Colorectaladenocarcinoma85.4
DorsalRootGanglion23.45
FetalThyroid29.4
Fetalbrain18.15
Fetalliver32.15
Fetallung31.1
GlobusPallidus18.85
Heart49.9
Hypothalamus37.85
Kidney28.4
Leukemia_chronicMyelogenousK-56253.05
Leukemia_promyelocytic-HL-6010.15
Leukemialymphoblastic(MOLT-4)17.05
Liver150.25
Lung82.95
Lymphnode25.45
Lymphoma_burkitts(Daudi)21.25
Lymphoma_burkitts(Raji)19.75
MedullaOblongata46.65
OccipitalLobe30
OlfactoryBulb23.35
Ovary18.5
Pancreas23.3
PancreaticIslet27.8
ParietalLobe35.35
Pituitary30.25
Placenta62.5
Pons29.4
PrefrontalCortex48
Prostate31.25
Salivarygland20.45
SkeletalMuscle32.85
Skin25.45
SmoothMuscle58.2
Spinalcord63.65
SubthalamicNucleus23.9
SuperiorCervicalGanglion29.95
TemporalLobe14.35
Testis30
TestisGermCell18.7
TestisIntersitial15.9
TestisLeydigCell24.5
TestisSeminiferousTubule20.25
Thalamus37.4
Thymus18.75
Thyroid52.15
Tongue31.9
Tonsil20.55
Trachea25.2
TrigeminalGanglion23.25
Uterus23.15
UterusCorpus32.6
WholeBlood18.25
Wholebrain43.7
colon25.9
pineal_day19.16
pineal_night17.88
retina57.575
small_intestine23.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P143032
  • 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
Amygdala5.73 ± 0.77
Basal Forebrain6.02 ± 0.3
Basal Part of Pons5.84 ± 0.3
Cerebellar Cortex5.51 ± 0.44
Cerebellar Nuclei6.3 ± 0.37
Claustrum6.19 ± 0.7
Epithalamus5.3 ± 0.36
Frontal Lobe5.79 ± 0.56
Globus Pallidus6.49 ± 0.26
Hypothalamus5.43 ± 0.5
Insula5.52 ± 0.49
Limbic Lobe5.76 ± 0.51
Mesencephalon5.91 ± 0.53
Myelencephalon5.85 ± 0.57
Occipital Lobe5.91 ± 0.56
Parietal Lobe5.74 ± 0.54
Pontine Tegmentum5.76 ± 0.65
Striatum6.11 ± 0.44
Subthalamus6.07 ± 0.13
Temporal Lobe5.65 ± 0.53
Thalamus5.97 ± 0.43
White Matter7.37 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdc42ep1CBCerebellum31.86
74.72
Cdc42ep1CTXCerebral cortex10.49
7.11
Cdc42ep1HIPHippocampal region7.83
7.24
Cdc42ep1HPFHippocampal formation9.12
7.82
Cdc42ep1HYHypothalamus9.91
7.71
Cdc42ep1LSXLateral septal complex3.99
3.42
Cdc42ep1MBMidbrain7.93
6.99
Cdc42ep1MYMedulla16.72
16.47
Cdc42ep1OLFOlfactory bulb22.95
17.31
Cdc42ep1PPons18.51
17.2
Cdc42ep1PALPallidum11.25
9
Cdc42ep1RHPRetrohippocampal region12.75
9.81
Cdc42ep1sAMYStriatum-like amygdalar nuclei10.08
6.65
Cdc42ep1STRStriatum10.21
7.32
Cdc42ep1STRdStriatum dorsal region11.33
8.28
Cdc42ep1STRvStriatum ventral region11.23
7.36
Cdc42ep1THThalamus8.75
6.86
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010853 28 138 165 LSFDSSPTSSTDGHSSYGLDSGFCTISR 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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