AutismKB 2.0

Annotation Detail for ARHGEF12


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Basic Information Top
Gene Symbol:ARHGEF12 ( DKFZp686O2372,KIAA0382,LARG,PRO2792 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 12
Band: 11q23.3
Quick LinksEntrez ID:23365; OMIM: 604763; Uniprot ID:ARHGC_HUMAN; ENSEMBL ID: ENSG00000196914; HGNC ID: 14193
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
blastocyst3 / 6231948
fetus71 / 564012125
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult136 / 193912170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma10 / 82823120
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor9 / 26384534
glioma9 / 10688384
head and neck tumor17 / 136302124
kidney tumor6 / 6895987
leukemia1 / 9584210
liver tumor10 / 96359103
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal274 / 336030781
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer10 / 10268097
retinoblastoma4 / 4635686
skin tumor6 / 12494948
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites3 / 4001574
bladder2 / 2975767
blood3 / 12347824
bone9 / 71655125
bone marrow2 / 4880140
brain64 / 110098958
cervix3 / 4817162
connective tissue9 / 14925560
ear3 / 16212185
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye27 / 211054127
heart8 / 8962689
intestine16 / 23447268
kidney19 / 21177789
larynx2 / 2414582
liver24 / 207743115
lung22 / 33697465
lymph1 / 4427022
lymph node4 / 9161043
mammary gland11 / 15327171
mouth10 / 67052149
muscle11 / 107715102
nerve0 / 157680 
ovary2 / 10205119
pancreas13 / 21481260
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta24 / 28082585
prostate18 / 18934595
salivary gland1 / 2015549
skin26 / 210574123
spleen4 / 5395274
stomach8 / 9661982
testis9 / 33044227
thymus0 / 811310 
thyroid7 / 47473147
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus31 / 232878133
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201335_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.15
Adipocyte6.4
AdrenalCortex6.85
Adrenalgland5.45
Amygdala6.85
Appendix6.8
AtrioventricularNode5.1
BDCA4+_DentriticCells7.15
Bonemarrow6.8
BronchialEpithelialCells6.15
CD105+_Endothelial6.6
CD14+_Monocytes6.8
CD19+_BCells(neg._sel.)6.8
CD33+_Myeloid8.15
CD34+8.05
CD4+_Tcells6.9
CD56+_NKCells7.25
CD71+_EarlyErythroid6.15
CD8+_Tcells6
CardiacMyocytes8.6
Caudatenucleus5.8
Cerebellum5.25
CerebellumPeduncles8.15
CiliaryGanglion4.6
CingulateCortex6.75
Colorectaladenocarcinoma6.5
DorsalRootGanglion5
FetalThyroid6.35
Fetalbrain6.75
Fetalliver5.65
Fetallung5.45
GlobusPallidus4.95
Heart8.5
Hypothalamus7.05
Kidney5.3
Leukemia_chronicMyelogenousK-5625.85
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)5.25
Liver9.4
Lung6.95
Lymphnode5.45
Lymphoma_burkitts(Daudi)8.25
Lymphoma_burkitts(Raji)9.1
MedullaOblongata5.95
OccipitalLobe5.85
OlfactoryBulb5.1
Ovary4.3
Pancreas5.25
PancreaticIslet6.95
ParietalLobe7.1
Pituitary7.6
Placenta6.7
Pons6.2
PrefrontalCortex8.25
Prostate7.45
Salivarygland5.3
SkeletalMuscle8.4
Skin5.05
SmoothMuscle7.4
Spinalcord6.9
SubthalamicNucleus5.95
SuperiorCervicalGanglion10.4
TemporalLobe7.15
Testis5.6
TestisGermCell5.4
TestisIntersitial5.4
TestisLeydigCell6.4
TestisSeminiferousTubule5.55
Thalamus6.6
Thymus4.95
Thyroid7.8
Tongue6.65
Tonsil6.3
Trachea5.4
TrigeminalGanglion7.35
Uterus5.25
UterusCorpus6.3
WholeBlood6.9
Wholebrain5.5
colon6.55
pineal_day8.24
pineal_night7.98
retina7.85
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P127642
  • 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
Amygdala7.87 ± 0.19
Basal Forebrain7.76 ± 0.2
Basal Part of Pons7.75 ± 0.44
Cerebellar Cortex7.58 ± 0.28
Cerebellar Nuclei7.35 ± 0.44
Claustrum7.95 ± 0.31
Epithalamus7.77 ± 0.23
Frontal Lobe7.63 ± 0.33
Globus Pallidus7.42 ± 0.23
Hypothalamus7.57 ± 0.3
Insula7.65 ± 0.28
Limbic Lobe7.69 ± 0.4
Mesencephalon7.56 ± 0.41
Myelencephalon7.68 ± 0.36
Occipital Lobe7.93 ± 0.32
Parietal Lobe7.8 ± 0.34
Pontine Tegmentum7.65 ± 0.31
Striatum7.71 ± 0.3
Subthalamus7.47 ± 0.06
Temporal Lobe7.81 ± 0.3
Thalamus7.81 ± 0.33
White Matter6.39 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef12CBCerebellum15.76
15.51
Arhgef12CTXCerebral cortex21.58
12.69
Arhgef12HIPHippocampal region13.49
10.68
Arhgef12HPFHippocampal formation18.07
12.9
Arhgef12HYHypothalamus13.68
8.65
Arhgef12LSXLateral septal complex7.61
4.53
Arhgef12MBMidbrain15.97
11.99
Arhgef12MYMedulla29.11
24.92
Arhgef12OLFOlfactory bulb42.59
28.65
Arhgef12PPons24.83
20.18
Arhgef12PALPallidum17.18
12.45
Arhgef12RHPRetrohippocampal region28.92
17.84
Arhgef12sAMYStriatum-like amygdalar nuclei20.76
12.27
Arhgef12STRStriatum13.27
7.75
Arhgef12STRdStriatum dorsal region12.35
7.31
Arhgef12STRvStriatum ventral region14.4
7.97
Arhgef12THThalamus13.11
8.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007632 20 292 311 TDCSSGDASRPSSDNADSPK 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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