AutismKB 2.0

Annotation Detail for ARHGAP12


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Basic Information Top
Gene Symbol:ARHGAP12 ( DKFZp779N2050,FLJ10971,FLJ20737,FLJ21785,FLJ45709 )
Gene Full Name: Rho GTPase activating protein 12
Band: 10p11.22
Quick LinksEntrez ID:94134; OMIM: 610577; Uniprot ID:RHG12_HUMAN; ENSEMBL ID: ENSG00000165322; HGNC ID: 16348
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
blastocyst1 / 6231916
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult101 / 193912152
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor15 / 96359155
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal162 / 336030748
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood6 / 12347848
bone1 / 7165513
bone marrow0 / 488010 
brain75 / 110098968
cervix0 / 481710 
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine7 / 23447229
kidney12 / 21177756
larynx0 / 241450 
liver16 / 20774377
lung11 / 33697432
lymph0 / 442700 
lymph node6 / 9161065
mammary gland18 / 153271117
mouth6 / 6705289
muscle0 / 1077150 
nerve2 / 15768126
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate4 / 18934521
salivary gland0 / 201550 
skin2 / 2105749
spleen3 / 5395255
stomach2 / 9661920
testis11 / 33044233
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207606_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.5
Adipocyte9.9
AdrenalCortex14.6
Adrenalgland8.3
Amygdala19.8
Appendix14.95
AtrioventricularNode9.55
BDCA4+_DentriticCells11.5
Bonemarrow11.25
BronchialEpithelialCells9
CD105+_Endothelial9.65
CD14+_Monocytes11
CD19+_BCells(neg._sel.)15
CD33+_Myeloid16.25
CD34+14.6
CD4+_Tcells29.7
CD56+_NKCells29.85
CD71+_EarlyErythroid8.1
CD8+_Tcells59.45
CardiacMyocytes15.65
Caudatenucleus10.05
Cerebellum8.1
CerebellumPeduncles12.3
CiliaryGanglion8.3
CingulateCortex13.15
Colorectaladenocarcinoma14.25
DorsalRootGanglion8.8
FetalThyroid13.4
Fetalbrain16.45
Fetalliver8.8
Fetallung8.4
GlobusPallidus10.15
Heart15.6
Hypothalamus48.35
Kidney9.1
Leukemia_chronicMyelogenousK-5628.6
Leukemia_promyelocytic-HL-607.7
Leukemialymphoblastic(MOLT-4)7.15
Liver13.75
Lung9.25
Lymphnode12.15
Lymphoma_burkitts(Daudi)13.85
Lymphoma_burkitts(Raji)17.45
MedullaOblongata17.8
OccipitalLobe16.25
OlfactoryBulb10.75
Ovary6.55
Pancreas9.15
PancreaticIslet11.4
ParietalLobe11
Pituitary18.55
Placenta8.4
Pons12.2
PrefrontalCortex29.7
Prostate10.6
Salivarygland20.4
SkeletalMuscle15.3
Skin10.9
SmoothMuscle10.1
Spinalcord53.6
SubthalamicNucleus9.85
SuperiorCervicalGanglion16.9
TemporalLobe11.25
Testis7.25
TestisGermCell7.75
TestisIntersitial9.3
TestisLeydigCell8.65
TestisSeminiferousTubule7.35
Thalamus25.15
Thymus6.75
Thyroid14.1
Tongue11.9
Tonsil11.35
Trachea9.35
TrigeminalGanglion19.3
Uterus20.05
UterusCorpus9.6
WholeBlood12.8
Wholebrain7.15
colon10.55
pineal_day27.88
pineal_night26.48
retina15.2
small_intestine18.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9792_PI416261804
  • 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
Amygdala5.56 ± 0.41
Basal Forebrain6.08 ± 0.22
Basal Part of Pons5.81 ± 0.26
Cerebellar Cortex5.7 ± 0.35
Cerebellar Nuclei6.51 ± 0.38
Claustrum5.58 ± 0.52
Epithalamus6.02 ± 0.52
Frontal Lobe5.67 ± 0.46
Globus Pallidus6.97 ± 0.35
Hypothalamus6.26 ± 0.31
Insula5.58 ± 0.32
Limbic Lobe5.64 ± 0.44
Mesencephalon5.98 ± 0.4
Myelencephalon5.79 ± 0.39
Occipital Lobe5.48 ± 0.32
Parietal Lobe5.76 ± 0.49
Pontine Tegmentum5.83 ± 0.39
Striatum5.46 ± 0.44
Subthalamus6.4 ± 0.43
Temporal Lobe5.67 ± 0.44
Thalamus5.83 ± 0.33
White Matter6.38 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgap12CBCerebellum24.26
70.78
Arhgap12CTXCerebral cortex25.05
22
Arhgap12HIPHippocampal region63.12
100
Arhgap12HPFHippocampal formation52.5
77.58
Arhgap12HYHypothalamus28.63
25.91
Arhgap12LSXLateral septal complex9.22
7.6
Arhgap12MBMidbrain34.76
37.44
Arhgap12MYMedulla38.12
52
Arhgap12OLFOlfactory bulb23.57
22.2
Arhgap12PPons32.09
40.17
Arhgap12PALPallidum25.46
28.33
Arhgap12RHPRetrohippocampal region35.79
36.5
Arhgap12sAMYStriatum-like amygdalar nuclei16.07
14.59
Arhgap12STRStriatum11.27
9.74
Arhgap12STRdStriatum dorsal region6.9
6.18
Arhgap12STRvStriatum ventral region23.39
18.01
Arhgap12THThalamus56.75
59.45
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096332 18 675 692 LCIEHVEEHGLDIDGIYR Peptide Atlas
RHG12_HUMAN_637 8 637 644 RPTLQAVR PRIDE
RHG12_HUMAN_771 15 771 785 QLPKPNQDTMQILFR PRIDE

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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