AutismKB 2.0

Annotation Detail for ARHGEF3


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Basic Information Top
Gene Symbol:ARHGEF3 ( DKFZp434F2429,FLJ98126,GEF3,MGC118905,STA3,XPLN )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 3
Band: 3p14.3
Quick LinksEntrez ID:50650; OMIM: 612115; Uniprot ID:ARHG3_HUMAN; ENSEMBL ID: ENSG00000163947; HGNC ID: 683
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 body3 / 7076142
blastocyst1 / 6231916
fetus26 / 56401246
neonate0 / 310970 
infant3 / 23620127
juvenile0 / 555560 
adult56 / 193912128
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia7 / 9725071
normal212 / 336030763
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder2 / 2975767
blood6 / 12347848
bone1 / 7165513
bone marrow1 / 4880120
brain104 / 110098994
cervix4 / 4817183
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye13 / 21105461
heart0 / 896260 
intestine10 / 23447242
kidney11 / 21177751
larynx0 / 241450 
liver0 / 2077430 
lung16 / 33697447
lymph0 / 442700 
lymph node3 / 9161032
mammary gland2 / 15327113
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas12 / 21481255
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach11 / 96619113
testis33 / 33044299
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus17 / 23287872
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218501_at
Cell line Expression level Expression bar
721_B_lymphoblasts38.5
Adipocyte6.35
AdrenalCortex10
Adrenalgland13.15
Amygdala48.2
Appendix8.8
AtrioventricularNode6.1
BDCA4+_DentriticCells21.8
Bonemarrow7.5
BronchialEpithelialCells7.7
CD105+_Endothelial6.5
CD14+_Monocytes95.95
CD19+_BCells(neg._sel.)40.7
CD33+_Myeloid48.95
CD34+11.95
CD4+_Tcells323.3
CD56+_NKCells781.05
CD71+_EarlyErythroid6.15
CD8+_Tcells358.95
CardiacMyocytes10.7
Caudatenucleus7.65
Cerebellum11.25
CerebellumPeduncles14.2
CiliaryGanglion5.6
CingulateCortex25.7
Colorectaladenocarcinoma8.95
DorsalRootGanglion4.8
FetalThyroid7.8
Fetalbrain20.9
Fetalliver5.95
Fetallung9.45
GlobusPallidus19.6
Heart10.15
Hypothalamus11.2
Kidney6.7
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.45
Liver8.1
Lung9.3
Lymphnode21.2
Lymphoma_burkitts(Daudi)9.3
Lymphoma_burkitts(Raji)10.45
MedullaOblongata9.5
OccipitalLobe16.3
OlfactoryBulb5.6
Ovary5.85
Pancreas5.95
PancreaticIslet24.45
ParietalLobe9.25
Pituitary39.95
Placenta8.3
Pons7.9
PrefrontalCortex39.75
Prostate11.65
Salivarygland6.3
SkeletalMuscle9.95
Skin6.65
SmoothMuscle9.95
Spinalcord9.15
SubthalamicNucleus23.15
SuperiorCervicalGanglion9.1
TemporalLobe17.25
Testis7.2
TestisGermCell18.4
TestisIntersitial7
TestisLeydigCell6.9
TestisSeminiferousTubule8.25
Thalamus8.85
Thymus7.6
Thyroid20.15
Tongue8.75
Tonsil8.3
Trachea6.95
TrigeminalGanglion8.7
Uterus24.75
UterusCorpus8.05
WholeBlood114.7
Wholebrain41.6
colon7.85
pineal_day58.4
pineal_night53.52
retina25.225
small_intestine8.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P143885
  • 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
Amygdala7.66 ± 0.66
Basal Forebrain8.2 ± 0.25
Basal Part of Pons8.83 ± 0.25
Cerebellar Cortex8.11 ± 0.5
Cerebellar Nuclei8.55 ± 0.58
Claustrum8.02 ± 0.39
Epithalamus7.44 ± 0.5
Frontal Lobe8.33 ± 0.47
Globus Pallidus7.08 ± 0.5
Hypothalamus7.91 ± 0.26
Insula8.23 ± 0.38
Limbic Lobe8.62 ± 0.62
Mesencephalon7.92 ± 0.48
Myelencephalon8.07 ± 0.62
Occipital Lobe8.2 ± 0.61
Parietal Lobe8.32 ± 0.52
Pontine Tegmentum7.98 ± 0.42
Striatum7.52 ± 0.57
Subthalamus8.03 ± 0.08
Temporal Lobe8.34 ± 0.45
Thalamus7.95 ± 0.47
White Matter6.76 ± 1.03
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef3CBCerebellum74.03
100
Arhgef3CTXCerebral cortex100
100
Arhgef3HIPHippocampal region100
100
Arhgef3HPFHippocampal formation100
100
Arhgef3HYHypothalamus55.86
49.23
Arhgef3LSXLateral septal complex85.65
70.37
Arhgef3MBMidbrain70.15
71.59
Arhgef3MYMedulla76.72
100
Arhgef3OLFOlfactory bulb100
100
Arhgef3PPons69.42
84.03
Arhgef3PALPallidum66.33
70.13
Arhgef3RHPRetrohippocampal region100
100
Arhgef3sAMYStriatum-like amygdalar nuclei92.07
78.61
Arhgef3STRStriatum100
95.57
Arhgef3STRdStriatum dorsal region100
99.18
Arhgef3STRvStriatum ventral region100
100
Arhgef3THThalamus74.12
72.14
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


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