AutismKB 2.0

Annotation Detail for RAC1


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Basic Information Top
Gene Symbol:RAC1 ( MGC111543,TC-25,p21-Rac1 )
Gene Full Name: ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
Band: 7p22.1
Quick LinksEntrez ID:5879; OMIM: 602048; Uniprot ID:RAC1_HUMAN; ENSEMBL ID: ENSG00000136238; HGNC ID: 9801
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 body14 / 70761197
blastocyst6 / 6231996
fetus103 / 564012182
neonate3 / 3109796
infant1 / 2362042
juvenile7 / 55556125
adult525 / 1939121270
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor24 / 94178254
cervical tumor11 / 34366320
chondrosarcoma17 / 82823205
colorectal tumor74 / 114246647
esophageal tumor2 / 17290115
gastrointestinal tumor60 / 119369502
germ cell tumor37 / 263845140
glioma23 / 106883215
head and neck tumor38 / 136302278
kidney tumor10 / 68959145
leukemia12 / 95842125
liver tumor15 / 96359155
lung tumor34 / 103127329
lymphoma32 / 71755445
non-neoplasia11 / 97250113
normal600 / 3360307178
ovarian tumor16 / 76682208
pancreatic tumor90 / 104616860
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer27 / 102680262
retinoblastoma8 / 46356172
skin tumor46 / 124949368
soft tissue/muscle tissue tumor25 / 125191199
uterine tumor43 / 90257476
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites26 / 40015649
bladder11 / 29757369
blood10 / 12347880
bone21 / 71655293
bone marrow5 / 48801102
brain157 / 1100989142
cervix12 / 48171249
connective tissue14 / 14925593
ear11 / 16212678
embryonic tissue36 / 215722166
esophagus2 / 2020998
eye39 / 211054184
heart18 / 89626200
intestine98 / 234472417
kidney40 / 211777188
larynx9 / 24145372
liver34 / 207743163
lung90 / 336974267
lymph24 / 44270542
lymph node22 / 91610240
mammary gland75 / 153271489
mouth14 / 67052208
muscle20 / 107715185
nerve4 / 15768253
ovary26 / 102051254
pancreas123 / 214812572
parathyroid10 / 20539486
pharynx12 / 41328290
pituitary gland8 / 16585482
placenta58 / 280825206
prostate42 / 189345221
salivary gland5 / 20155248
skin72 / 210574341
spleen4 / 5395274
stomach36 / 96619372
testis14 / 33044242
thymus9 / 81131110
thyroid8 / 47473168
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord3 / 13680219
uterus86 / 232878369
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208640_at
Cell line Expression level Expression bar
721_B_lymphoblasts1780.6
Adipocyte806.45
AdrenalCortex471.45
Adrenalgland745.35
Amygdala3499.55
Appendix527.85
AtrioventricularNode318.65
BDCA4+_DentriticCells1521.55
Bonemarrow340.2
BronchialEpithelialCells1658.2
CD105+_Endothelial1194.85
CD14+_Monocytes1432.55
CD19+_BCells(neg._sel.)629.35
CD33+_Myeloid1315.2
CD34+1512.2
CD4+_Tcells541.8
CD56+_NKCells1195.2
CD71+_EarlyErythroid1082.2
CD8+_Tcells429.45
CardiacMyocytes1065.1
Caudatenucleus1703.8
Cerebellum1205.1
CerebellumPeduncles1228.4
CiliaryGanglion442
CingulateCortex1514.65
Colorectaladenocarcinoma1512.7
DorsalRootGanglion484.65
FetalThyroid1318.65
Fetalbrain2120.25
Fetalliver466.4
Fetallung1113.5
GlobusPallidus1062.85
Heart329.25
Hypothalamus3117.2
Kidney410.7
Leukemia_chronicMyelogenousK-5621271.25
Leukemia_promyelocytic-HL-60906.8
Leukemialymphoblastic(MOLT-4)180.7
Liver362.45
Lung1676.35
Lymphnode618.15
Lymphoma_burkitts(Daudi)993.35
Lymphoma_burkitts(Raji)1692.1
MedullaOblongata1285.3
OccipitalLobe2333.15
OlfactoryBulb1223.9
Ovary406.05
Pancreas637.6
PancreaticIslet1161.25
ParietalLobe1881.7
Pituitary1042.5
Placenta2224.65
Pons905.65
PrefrontalCortex2208.6
Prostate1371.4
Salivarygland542.2
SkeletalMuscle349.45
Skin627
SmoothMuscle1792
Spinalcord2842.7
SubthalamicNucleus1136
SuperiorCervicalGanglion210.8
TemporalLobe970
Testis460.95
TestisGermCell697.65
TestisIntersitial271.25
TestisLeydigCell330.3
TestisSeminiferousTubule281.2
Thalamus1978.35
Thymus659.6
Thyroid1711.5
Tongue902.1
Tonsil958.4
Trachea782.9
TrigeminalGanglion365.05
Uterus1377.65
UterusCorpus936.15
WholeBlood1026.4
Wholebrain2344.25
colon1224.65
pineal_day1146.22
pineal_night1314.08
retina2373.95
small_intestine1273.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P217709
  • 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
Amygdala9.91 ± 0.37
Basal Forebrain10.1 ± 0.07
Basal Part of Pons10.24 ± 0.22
Cerebellar Cortex10.09 ± 0.35
Cerebellar Nuclei10.01 ± 0.24
Claustrum9.74 ± 0.28
Epithalamus10.09 ± 0.29
Frontal Lobe10.22 ± 0.34
Globus Pallidus10.39 ± 0.28
Hypothalamus10.29 ± 0.18
Insula10.23 ± 0.37
Limbic Lobe10 ± 0.49
Mesencephalon10.02 ± 0.33
Myelencephalon10.03 ± 0.38
Occipital Lobe9.73 ± 0.38
Parietal Lobe9.98 ± 0.36
Pontine Tegmentum10.07 ± 0.36
Striatum9.75 ± 0.28
Subthalamus10 ± 0.47
Temporal Lobe10.1 ± 0.37
Thalamus10.04 ± 0.29
White Matter10.54 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rac1CBCerebellum27.05
88.52
Rac1CTXCerebral cortex100
100
Rac1HIPHippocampal region100
100
Rac1HPFHippocampal formation100
100
Rac1HYHypothalamus100
100
Rac1LSXLateral septal complex100
100
Rac1MBMidbrain78.06
100
Rac1MYMedulla32.14
61.48
Rac1OLFOlfactory bulb100
100
Rac1PPons48.53
83.87
Rac1PALPallidum100
100
Rac1RHPRetrohippocampal region100
100
Rac1sAMYStriatum-like amygdalar nuclei100
100
Rac1STRStriatum100
100
Rac1STRdStriatum dorsal region100
100
Rac1STRvStriatum ventral region100
100
Rac1THThalamus95.64
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000774 9 175 183 AVLCPPPVK Peptide Atlas
RAC1_HUMAN_102 14 102 115 HHCPNTPIILVGTK PRIDE
RAC1_HUMAN_116 12 116 127 LDLRDDKDTIEK PRIDE
RAC1_HUMAN_132 15 132 146 KLTPITYPQGLAMAK PRIDE
RAC1_HUMAN_133 14 133 146 LTPITYPQGLAMAK PRIDE
RAC1_HUMAN_153 10 153 162 YLECSALTQR PRIDE
RAC1_HUMAN_166 8 166 173 TVFDEAIR PRIDE
RAC1_HUMAN_5 11 5 15 CVVVGDGAVGK PRIDE
RAC1_HUMAN_94 8 94 101 AKWYPEVR 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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