AutismKB 2.0

Annotation Detail for RAC2


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Basic Information Top
Gene Symbol:RAC2 ( EN-7,Gx,HSPC022 )
Gene Full Name: ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
Band: 22q13.1
Quick LinksEntrez ID:5880; OMIM: 602049; Uniprot ID:RAC2_HUMAN; ENSEMBL ID: ENSG00000128340; HGNC ID: 9802
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 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile14 / 55556251
adult126 / 193912164
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma12 / 82823144
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor6 / 6895987
leukemia32 / 95842333
liver tumor6 / 9635962
lung tumor5 / 10312748
lymphoma39 / 71755543
non-neoplasia6 / 9725061
normal188 / 336030755
ovarian tumor0 / 766820 
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood44 / 123478356
bone10 / 71655139
bone marrow4 / 4880181
brain9 / 11009898
cervix0 / 481710 
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye12 / 21105456
heart4 / 8962644
intestine5 / 23447221
kidney6 / 21177728
larynx0 / 241450 
liver6 / 20774328
lung15 / 33697444
lymph23 / 44270519
lymph node24 / 91610261
mammary gland8 / 15327152
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas22 / 214812102
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta7 / 28082524
prostate6 / 18934531
salivary gland1 / 2015549
skin7 / 21057433
spleen8 / 53952148
stomach15 / 96619155
testis0 / 3304420 
thymus2 / 8113124
thyroid0 / 474730 
tonsil21 / 169991235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213603_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1982.75
Adipocyte16.45
AdrenalCortex11.35
Adrenalgland19.95
Amygdala11.55
Appendix8.9
AtrioventricularNode8.85
BDCA4+_DentriticCells1551.6
Bonemarrow1012.3
BronchialEpithelialCells394.9
CD105+_Endothelial200.45
CD14+_Monocytes1254.55
CD19+_BCells(neg._sel.)1392.1
CD33+_Myeloid1624.5
CD34+1232.45
CD4+_Tcells1685
CD56+_NKCells2672.75
CD71+_EarlyErythroid34.85
CD8+_Tcells1459.85
CardiacMyocytes82.2
Caudatenucleus9.65
Cerebellum9.4
CerebellumPeduncles7.8
CiliaryGanglion10.45
CingulateCortex11.45
Colorectaladenocarcinoma28.95
DorsalRootGanglion11.35
FetalThyroid11.45
Fetalbrain8.25
Fetalliver13.55
Fetallung42.85
GlobusPallidus7.45
Heart190.6
Hypothalamus8.05
Kidney10.65
Leukemia_chronicMyelogenousK-562237.4
Leukemia_promyelocytic-HL-60461.4
Leukemialymphoblastic(MOLT-4)277.65
Liver49.65
Lung516.8
Lymphnode532.45
Lymphoma_burkitts(Daudi)436.6
Lymphoma_burkitts(Raji)1650.8
MedullaOblongata5.75
OccipitalLobe7.2
OlfactoryBulb8.25
Ovary12.85
Pancreas16.75
PancreaticIslet17.95
ParietalLobe12
Pituitary12.1
Placenta17.55
Pons14.05
PrefrontalCortex7.85
Prostate97
Salivarygland103.45
SkeletalMuscle12.75
Skin15
SmoothMuscle199.85
Spinalcord15.9
SubthalamicNucleus10.45
SuperiorCervicalGanglion12.4
TemporalLobe10.7
Testis9
TestisGermCell6
TestisIntersitial6.1
TestisLeydigCell6.9
TestisSeminiferousTubule9.9
Thalamus11.05
Thymus1255.85
Thyroid34.2
Tongue9.95
Tonsil632.15
Trachea44
TrigeminalGanglion7.2
Uterus13.1
UterusCorpus10.2
WholeBlood2526
Wholebrain6.8
colon18.9
pineal_day7.74
pineal_night7.08
retina16.95
small_intestine55.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P228717
  • 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
Amygdala3.24 ± 0.96
Basal Forebrain2.7 ± 0.26
Basal Part of Pons2.62 ± 0.68
Cerebellar Cortex3.15 ± 0.68
Cerebellar Nuclei2.65 ± 0.56
Claustrum2.7 ± 0.64
Epithalamus2.61 ± 0.48
Frontal Lobe2.94 ± 0.77
Globus Pallidus2.42 ± 0.94
Hypothalamus2.76 ± 0.92
Insula3.07 ± 0.41
Limbic Lobe2.95 ± 0.61
Mesencephalon2.82 ± 0.71
Myelencephalon2.82 ± 0.67
Occipital Lobe2.48 ± 0.68
Parietal Lobe2.79 ± 0.68
Pontine Tegmentum2.86 ± 0.79
Striatum2.11 ± 0.67
Subthalamus2.7 ± 0.59
Temporal Lobe3.02 ± 0.59
Thalamus2.71 ± 0.61
White Matter1.95 ± 0.29
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000776 9 175 183 AVLCPQPTR Peptide Atlas
RAC2_HUMAN_0 0 0 0 CVVVGDGAVGK PRIDE
RAC2_HUMAN_0 0 0 0 KLAPITYPQGLALAK PRIDE
RAC2_HUMAN_0 0 0 0 LAPITYPQGLALAK PRIDE
RAC2_HUMAN_0 0 0 0 TVFDEAIR PRIDE
RAC2_HUMAN_102 14 102 115 HHCPSTPIILVGTK PRIDE
RAC2_HUMAN_116 12 116 127 LDLRDDKDTIEK PRIDE
RAC2_HUMAN_132 15 132 146 KLAPITYPQGLALAK PRIDE
RAC2_HUMAN_133 14 133 146 LAPITYPQGLALAK PRIDE
RAC2_HUMAN_147 16 147 162 EIDSVKYLECSALTQR PRIDE
RAC2_HUMAN_153 10 153 162 YLECSALTQR PRIDE
RAC2_HUMAN_154 10 154 163 YLECSALTQR PRIDE
RAC2_HUMAN_163 11 163 173 GLKTVFDEAIR PRIDE
RAC2_HUMAN_166 8 166 173 TVFDEAIR PRIDE
RAC2_HUMAN_174 12 174 185 AVLCPQPTRQQK PRIDE
RAC2_HUMAN_174 9 174 182 AVLCPQPTR PRIDE
RAC2_HUMAN_5 11 5 15 CVVVGDGAVGK PRIDE
RAC2_HUMAN_6 11 6 16 CVVVGDGAVGK PRIDE
RAC2_HUMAN_94 8 94 101 AKWFPEVR 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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