AutismKB 2.0

Annotation Detail for ARHGEF7


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Basic Information Top
Gene Symbol:ARHGEF7 ( BETA-PIX,COOL-1,COOL1,DKFZp686C12170,DKFZp761K1021,KIAA0142,KIAA0412,Nbla10314,P50,P50BP,P85,P85COOL1,P85SPR,PAK3,PIXB )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 7
Band: 13q34
Quick LinksEntrez ID:8874; OMIM: 605477; Uniprot ID:ARHG7_HUMAN; ENSEMBL ID: ENSG00000102606; HGNC ID: 15607
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
blastocyst4 / 6231964
fetus72 / 564012127
neonate1 / 3109732
infant3 / 23620127
juvenile3 / 5555653
adult112 / 193912157
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) tumor6 / 9417863
cervical tumor10 / 34366290
chondrosarcoma7 / 8282384
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor20 / 26384575
glioma4 / 10688337
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia15 / 95842156
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal272 / 336030780
ovarian tumor8 / 76682104
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland0 / 331970 
ascites4 / 4001599
bladder0 / 297570 
blood4 / 12347832
bone6 / 7165583
bone marrow4 / 4880181
brain148 / 1100989134
cervix11 / 48171228
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye16 / 21105475
heart6 / 8962666
intestine20 / 23447285
kidney5 / 21177723
larynx3 / 24145124
liver1 / 2077434
lung25 / 33697474
lymph1 / 4427022
lymph node27 / 91610294
mammary gland7 / 15327145
mouth3 / 6705244
muscle4 / 10771537
nerve1 / 1576863
ovary2 / 10205119
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta8 / 28082528
prostate12 / 18934563
salivary gland0 / 201550 
skin8 / 21057437
spleen3 / 5395255
stomach6 / 9661962
testis16 / 33044248
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202547_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.75
Adipocyte6.35
AdrenalCortex6.8
Adrenalgland6.9
Amygdala8.55
Appendix8.1
AtrioventricularNode6.65
BDCA4+_DentriticCells7.9
Bonemarrow7.95
BronchialEpithelialCells6.05
CD105+_Endothelial6.45
CD14+_Monocytes6.55
CD19+_BCells(neg._sel.)7.95
CD33+_Myeloid8.45
CD34+8.1
CD4+_Tcells7.75
CD56+_NKCells7.95
CD71+_EarlyErythroid5.8
CD8+_Tcells9.9
CardiacMyocytes9.25
Caudatenucleus6.25
Cerebellum7.15
CerebellumPeduncles12.75
CiliaryGanglion4.65
CingulateCortex6.75
Colorectaladenocarcinoma6.6
DorsalRootGanglion5
FetalThyroid6.5
Fetalbrain6.5
Fetalliver6.75
Fetallung10.15
GlobusPallidus4.75
Heart10.05
Hypothalamus7.4
Kidney6.5
Leukemia_chronicMyelogenousK-5625.7
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)7.25
Liver11.3
Lung14.6
Lymphnode5.7
Lymphoma_burkitts(Daudi)8.55
Lymphoma_burkitts(Raji)16.55
MedullaOblongata6.25
OccipitalLobe6.25
OlfactoryBulb5.2
Ovary4.35
Pancreas5.2
PancreaticIslet7.15
ParietalLobe10
Pituitary9.65
Placenta8.55
Pons9.1
PrefrontalCortex8.8
Prostate12.65
Salivarygland5.25
SkeletalMuscle7.75
Skin4.95
SmoothMuscle7.55
Spinalcord11.45
SubthalamicNucleus6
SuperiorCervicalGanglion7.85
TemporalLobe7.9
Testis9.65
TestisGermCell5.7
TestisIntersitial11.4
TestisLeydigCell7.2
TestisSeminiferousTubule10.2
Thalamus6.65
Thymus12.8
Thyroid12.35
Tongue6.5
Tonsil7.9
Trachea5.55
TrigeminalGanglion6.65
Uterus6.9
UterusCorpus5.95
WholeBlood7.25
Wholebrain8.9
colon8.6
pineal_day7.54
pineal_night7.34
retina10.075
small_intestine8.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P321855
  • 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
Amygdala5.84 ± 0.44
Basal Forebrain6.49 ± 0.28
Basal Part of Pons6.65 ± 0.39
Cerebellar Cortex6.67 ± 0.44
Cerebellar Nuclei6.59 ± 0.47
Claustrum5.73 ± 0.61
Epithalamus6.33 ± 0.43
Frontal Lobe6.56 ± 0.44
Globus Pallidus6.17 ± 0.24
Hypothalamus6.18 ± 0.37
Insula6.49 ± 0.34
Limbic Lobe6.24 ± 0.52
Mesencephalon6.39 ± 0.47
Myelencephalon6.45 ± 0.45
Occipital Lobe6.44 ± 0.43
Parietal Lobe6.52 ± 0.51
Pontine Tegmentum6.37 ± 0.45
Striatum6.35 ± 0.36
Subthalamus6.33 ± 0.75
Temporal Lobe6.47 ± 0.41
Thalamus6.65 ± 0.42
White Matter7.07 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef7CBCerebellum8.41
8.36
Arhgef7CTXCerebral cortex13.29
4.57
Arhgef7HIPHippocampal region9.43
5.81
Arhgef7HPFHippocampal formation7.95
4.31
Arhgef7HYHypothalamus0.45
0.32
Arhgef7LSXLateral septal complex1.96
0.48
Arhgef7MBMidbrain1.06
0.78
Arhgef7MYMedulla2
1.41
Arhgef7OLFOlfactory bulb21.35
7.7
Arhgef7PPons0.93
0.63
Arhgef7PALPallidum0.9
0.51
Arhgef7RHPRetrohippocampal region5.58
2.18
Arhgef7sAMYStriatum-like amygdalar nuclei4.95
1.49
Arhgef7STRStriatum2.74
1.13
Arhgef7STRdStriatum dorsal region1.66
0.66
Arhgef7STRvStriatum ventral region5.24
2.53
Arhgef7THThalamus1.99
1.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARHG7_HUMAN_455 13 455 467 KELELQILTEAIR PRIDE
PAp00034958 20 535 554 ILVSCNNQQDLQEWVEHLQK 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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