AutismKB 2.0

Annotation Detail for CDC42EP4


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Basic Information Top
Gene Symbol:CDC42EP4 ( BORG4,CEP4,KAIA1777,MGC17125,MGC3740 )
Gene Full Name: CDC42 effector protein (Rho GTPase binding) 4
Band: 17q25.1
Quick LinksEntrez ID:23580; OMIM: 605468; Uniprot ID:BORG4_HUMAN; ENSEMBL ID: ENSG00000179604; HGNC ID: 17147
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
blastocyst2 / 6231932
fetus151 / 564012267
neonate3 / 3109796
infant7 / 23620296
juvenile5 / 5555689
adult153 / 193912178
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) tumor15 / 94178159
cervical tumor5 / 34366145
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor52 / 263845197
glioma18 / 106883168
head and neck tumor61 / 136302447
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal474 / 3360307141
ovarian tumor11 / 76682143
pancreatic tumor178 / 1046161701
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites1 / 4001524
bladder1 / 2975733
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain323 / 1100989293
cervix6 / 48171124
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus3 / 20209148
eye21 / 21105499
heart7 / 8962678
intestine9 / 23447238
kidney22 / 211777103
larynx0 / 241450 
liver3 / 20774314
lung29 / 33697486
lymph0 / 442700 
lymph node0 / 916100 
mammary gland23 / 153271150
mouth62 / 67052924
muscle4 / 10771537
nerve2 / 15768126
ovary13 / 102051127
pancreas181 / 214812842
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta30 / 280825106
prostate21 / 189345110
salivary gland0 / 201550 
skin17 / 21057480
spleen13 / 53952240
stomach7 / 9661972
testis78 / 330442236
thymus37 / 81131456
thyroid2 / 4747342
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord0 / 136800 
uterus18 / 23287877
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218062_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.4
Adipocyte66.55
AdrenalCortex30.25
Adrenalgland67.4
Amygdala68.1
Appendix30.3
AtrioventricularNode16
BDCA4+_DentriticCells15.05
Bonemarrow22.85
BronchialEpithelialCells18.6
CD105+_Endothelial37.55
CD14+_Monocytes16.5
CD19+_BCells(neg._sel.)13.75
CD33+_Myeloid18.25
CD34+20.25
CD4+_Tcells14.8
CD56+_NKCells17.8
CD71+_EarlyErythroid76.85
CD8+_Tcells14.35
CardiacMyocytes34.95
Caudatenucleus53.25
Cerebellum384.5
CerebellumPeduncles184.05
CiliaryGanglion15.55
CingulateCortex39.25
Colorectaladenocarcinoma16.25
DorsalRootGanglion14.55
FetalThyroid56.95
Fetalbrain108.15
Fetalliver22.65
Fetallung27.1
GlobusPallidus20.15
Heart43.35
Hypothalamus65.8
Kidney14.15
Leukemia_chronicMyelogenousK-56219.6
Leukemia_promyelocytic-HL-6013.3
Leukemialymphoblastic(MOLT-4)12.3
Liver40.05
Lung71.85
Lymphnode19.8
Lymphoma_burkitts(Daudi)19.95
Lymphoma_burkitts(Raji)19.55
MedullaOblongata27.65
OccipitalLobe45.35
OlfactoryBulb73.15
Ovary16.4
Pancreas19.35
PancreaticIslet32.95
ParietalLobe36.7
Pituitary50.95
Placenta61.05
Pons28.55
PrefrontalCortex87.8
Prostate60.15
Salivarygland17.75
SkeletalMuscle20.25
Skin13.4
SmoothMuscle22.3
Spinalcord99.3
SubthalamicNucleus34.25
SuperiorCervicalGanglion30.95
TemporalLobe25.45
Testis47.4
TestisGermCell31.8
TestisIntersitial15.5
TestisLeydigCell24.85
TestisSeminiferousTubule26.05
Thalamus47.2
Thymus31.45
Thyroid55.05
Tongue20.3
Tonsil25.4
Trachea59.95
TrigeminalGanglion20.65
Uterus37.7
UterusCorpus17.15
WholeBlood15.9
Wholebrain60.6
colon19.7
pineal_day129
pineal_night129.86
retina420.5
small_intestine20.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P66891
  • 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 ± 0.55
Basal Forebrain5.59 ± 0.55
Basal Part of Pons4.93 ± 0.52
Cerebellar Cortex5.91 ± 0.53
Cerebellar Nuclei4.65 ± 0.6
Claustrum4.79 ± 0.98
Epithalamus6.87 ± 0.31
Frontal Lobe5.6 ± 0.56
Globus Pallidus5.4 ± 0.42
Hypothalamus5.95 ± 0.53
Insula5.77 ± 0.48
Limbic Lobe5.45 ± 0.64
Mesencephalon5.71 ± 0.64
Myelencephalon5.77 ± 0.67
Occipital Lobe5.75 ± 0.64
Parietal Lobe5.56 ± 0.75
Pontine Tegmentum5.63 ± 0.69
Striatum6.18 ± 0.51
Subthalamus5.13 ± 0.52
Temporal Lobe5.68 ± 0.54
Thalamus6.06 ± 0.53
White Matter3.72 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdc42ep4CBCerebellum22.9
100
Cdc42ep4CTXCerebral cortex8.35
6.09
Cdc42ep4HIPHippocampal region15
18.79
Cdc42ep4HPFHippocampal formation11.46
12.77
Cdc42ep4HYHypothalamus3.94
3.13
Cdc42ep4LSXLateral septal complex2.12
1.97
Cdc42ep4MBMidbrain2.64
2.88
Cdc42ep4MYMedulla4.5
6.69
Cdc42ep4OLFOlfactory bulb9.96
8.87
Cdc42ep4PPons3.48
3.45
Cdc42ep4PALPallidum8.88
7.69
Cdc42ep4RHPRetrohippocampal region5.05
3.95
Cdc42ep4sAMYStriatum-like amygdalar nuclei1.35
1.26
Cdc42ep4STRStriatum4.76
3.93
Cdc42ep4STRdStriatum dorsal region3.65
3.12
Cdc42ep4STRvStriatum ventral region11.42
8.44
Cdc42ep4THThalamus6.29
5.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BORG4_HUMAN_20 16 20 35 ADLTAEMISAPLGDFR PRIDE
BORG4_HUMAN_338 18 338 355 QPDKEFSFMDEEEEDEIR PRIDE
PAp00009860 16 306 321 DSSSLSSCTSGILEER 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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