AutismKB 2.0

Annotation Detail for ARHGEF6


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Basic Information Top
Gene Symbol:ARHGEF6 ( COOL2,Cool-2,KIAA0006,MRX46,PIXA,alpha-PIX,alphaPIX )
Gene Full Name: Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Band: Xq26.3
Quick LinksEntrez ID:9459; OMIM: 300267; Uniprot ID:ARHG6_HUMAN; ENSEMBL ID: ENSG00000129675; HGNC ID: 685
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 body0 / 707610 
blastocyst0 / 623190 
fetus24 / 56401242
neonate2 / 3109764
infant1 / 2362042
juvenile1 / 5555617
adult62 / 193912131
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor18 / 26384568
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia8 / 9584283
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia6 / 9725061
normal107 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone2 / 7165527
bone marrow0 / 488010 
brain52 / 110098947
cervix0 / 481710 
connective tissue12 / 14925580
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart10 / 89626111
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung4 / 33697411
lymph2 / 4427045
lymph node13 / 91610141
mammary gland4 / 15327126
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate1 / 1893455
salivary gland2 / 2015599
skin2 / 2105749
spleen3 / 5395255
stomach3 / 9661931
testis2 / 3304426
thymus20 / 81131246
thyroid1 / 4747321
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209539_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.7
Adipocyte28.75
AdrenalCortex31
Adrenalgland31.9
Amygdala80.2
Appendix29.25
AtrioventricularNode19.05
BDCA4+_DentriticCells568.85
Bonemarrow39.2
BronchialEpithelialCells14.05
CD105+_Endothelial31.3
CD14+_Monocytes597.95
CD19+_BCells(neg._sel.)315.8
CD33+_Myeloid720.5
CD34+785.65
CD4+_Tcells1053.2
CD56+_NKCells690.15
CD71+_EarlyErythroid12.2
CD8+_Tcells790.55
CardiacMyocytes38.7
Caudatenucleus33.5
Cerebellum25.75
CerebellumPeduncles23.25
CiliaryGanglion19
CingulateCortex28.15
Colorectaladenocarcinoma23.85
DorsalRootGanglion22.2
FetalThyroid31.05
Fetalbrain45.95
Fetalliver27.85
Fetallung23.3
GlobusPallidus14.6
Heart36.4
Hypothalamus105
Kidney23.85
Leukemia_chronicMyelogenousK-56230.65
Leukemia_promyelocytic-HL-6037.1
Leukemialymphoblastic(MOLT-4)179.65
Liver38.15
Lung33
Lymphnode134.15
Lymphoma_burkitts(Daudi)36.6
Lymphoma_burkitts(Raji)83.85
MedullaOblongata29.05
OccipitalLobe31.7
OlfactoryBulb44.2
Ovary19.2
Pancreas24.1
PancreaticIslet48.6
ParietalLobe36.65
Pituitary35.7
Placenta28.65
Pons30.9
PrefrontalCortex42.5
Prostate30.35
Salivarygland22.6
SkeletalMuscle43.3
Skin17.3
SmoothMuscle31.1
Spinalcord191.95
SubthalamicNucleus19.4
SuperiorCervicalGanglion27.95
TemporalLobe19.4
Testis24.25
TestisGermCell18.5
TestisIntersitial16.5
TestisLeydigCell21.5
TestisSeminiferousTubule19.45
Thalamus37.15
Thymus46.85
Thyroid43.05
Tongue28.3
Tonsil81.3
Trachea24.45
TrigeminalGanglion24.65
Uterus56.9
UterusCorpus25.8
WholeBlood254.8
Wholebrain26.8
colon32.95
pineal_day54.06
pineal_night82.98
retina48.875
small_intestine28.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P85024
  • 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
Amygdala6.98 ± 0.46
Basal Forebrain7.03 ± 0.57
Basal Part of Pons6.66 ± 0.37
Cerebellar Cortex6.58 ± 0.29
Cerebellar Nuclei7.27 ± 0.45
Claustrum7 ± 0.77
Epithalamus7.52 ± 0.34
Frontal Lobe6.89 ± 0.56
Globus Pallidus8.82 ± 0.41
Hypothalamus6.91 ± 0.43
Insula6.57 ± 0.36
Limbic Lobe7.31 ± 0.7
Mesencephalon7.27 ± 0.48
Myelencephalon7.19 ± 0.49
Occipital Lobe7.42 ± 0.53
Parietal Lobe7.18 ± 0.52
Pontine Tegmentum7.11 ± 0.58
Striatum7.3 ± 0.55
Subthalamus7.24 ± 0.31
Temporal Lobe6.9 ± 0.46
Thalamus7.22 ± 0.35
White Matter7.74 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef6CBCerebellum35.07
48.53
Arhgef6CTXCerebral cortex69.68
51.86
Arhgef6HIPHippocampal region43.73
57.32
Arhgef6HPFHippocampal formation49.45
53.49
Arhgef6HYHypothalamus66.37
58.65
Arhgef6LSXLateral septal complex35.44
23.17
Arhgef6MBMidbrain54.33
47.74
Arhgef6MYMedulla64.02
74.19
Arhgef6OLFOlfactory bulb92.5
84.38
Arhgef6PPons64.66
68.83
Arhgef6PALPallidum70.5
69.96
Arhgef6RHPRetrohippocampal region58.46
47.86
Arhgef6sAMYStriatum-like amygdalar nuclei84.42
68.48
Arhgef6STRStriatum60.97
46.76
Arhgef6STRdStriatum dorsal region51.44
37.2
Arhgef6STRvStriatum ventral region93.82
77.9
Arhgef6THThalamus57.11
48.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011756 19 559 577 TSSSSCSAHSSFSSTGQPR 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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