AutismKB 2.0

Annotation Detail for G3BP1


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Basic Information Top
Gene Symbol:G3BP1 ( G3BP,HDH-VIII,MGC111040 )
Gene Full Name: GTPase activating protein (SH3 domain) binding protein 1
Band: 5q33.1
Quick LinksEntrez ID:10146; OMIM: 608431; Uniprot ID:G3BP1_HUMAN; ENSEMBL ID: ENSG00000145907; HGNC ID: 30292
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 body8 / 70761113
blastocyst7 / 62319112
fetus76 / 564012134
neonate10 / 31097321
infant14 / 23620592
juvenile16 / 55556287
adult139 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor14 / 94178148
cervical tumor10 / 34366290
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor9 / 17290520
gastrointestinal tumor14 / 119369117
germ cell tumor78 / 263845295
glioma10 / 10688393
head and neck tumor26 / 136302190
kidney tumor5 / 6895972
leukemia23 / 95842239
liver tumor15 / 96359155
lung tumor8 / 10312777
lymphoma13 / 71755181
non-neoplasia8 / 9725082
normal362 / 3360307107
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor34 / 124949272
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites11 / 40015274
bladder8 / 29757268
blood30 / 123478242
bone3 / 7165541
bone marrow7 / 48801143
brain166 / 1100989150
cervix13 / 48171269
connective tissue16 / 149255107
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus9 / 20209445
eye10 / 21105447
heart14 / 89626156
intestine12 / 23447251
kidney31 / 211777146
larynx0 / 241450 
liver22 / 207743105
lung39 / 336974115
lymph6 / 44270135
lymph node11 / 91610120
mammary gland20 / 153271130
mouth20 / 67052298
muscle10 / 10771592
nerve1 / 1576863
ovary5 / 10205148
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta14 / 28082549
prostate11 / 18934558
salivary gland2 / 2015599
skin44 / 210574208
spleen6 / 53952111
stomach5 / 9661951
testis75 / 330442226
thymus20 / 81131246
thyroid8 / 47473168
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus32 / 232878137
vascular21 / 51780405
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201503_at
Cell line Expression level Expression bar
721_B_lymphoblasts1496.95
Adipocyte137.75
AdrenalCortex41.9
Adrenalgland79.15
Amygdala63.6
Appendix37.05
AtrioventricularNode31.35
BDCA4+_DentriticCells299.65
Bonemarrow53.45
BronchialEpithelialCells580.8
CD105+_Endothelial668.3
CD14+_Monocytes105.35
CD19+_BCells(neg._sel.)272.15
CD33+_Myeloid199.5
CD34+922.55
CD4+_Tcells196.85
CD56+_NKCells420.05
CD71+_EarlyErythroid150.9
CD8+_Tcells286.7
CardiacMyocytes129.35
Caudatenucleus22.95
Cerebellum24.05
CerebellumPeduncles45.05
CiliaryGanglion26.9
CingulateCortex26.45
Colorectaladenocarcinoma482.35
DorsalRootGanglion28.25
FetalThyroid40.7
Fetalbrain30.3
Fetalliver120.5
Fetallung87.6
GlobusPallidus20.5
Heart49.35
Hypothalamus65.5
Kidney45.45
Leukemia_chronicMyelogenousK-562124.5
Leukemia_promyelocytic-HL-60325.25
Leukemialymphoblastic(MOLT-4)303.5
Liver33.3
Lung49.1
Lymphnode100.55
Lymphoma_burkitts(Daudi)308.3
Lymphoma_burkitts(Raji)216.05
MedullaOblongata30.3
OccipitalLobe30.85
OlfactoryBulb54.1
Ovary20.75
Pancreas101.15
PancreaticIslet94.75
ParietalLobe30.8
Pituitary56.05
Placenta114.05
Pons31.6
PrefrontalCortex86.9
Prostate127.45
Salivarygland29.3
SkeletalMuscle62.05
Skin31.55
SmoothMuscle155.35
Spinalcord46.05
SubthalamicNucleus26.4
SuperiorCervicalGanglion43.15
TemporalLobe30.25
Testis66.9
TestisGermCell73.9
TestisIntersitial34.75
TestisLeydigCell38.45
TestisSeminiferousTubule40.35
Thalamus37.4
Thymus223.9
Thyroid188.4
Tongue53.95
Tonsil93.9
Trachea65.7
TrigeminalGanglion37.3
Uterus127.6
UterusCorpus35.2
WholeBlood178.7
Wholebrain30.05
colon333.7
pineal_day77.6
pineal_night76.64
retina118.225
small_intestine407.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P336479
  • 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
Amygdala9.72 ± 0.21
Basal Forebrain9.98 ± 0.16
Basal Part of Pons9.58 ± 0.17
Cerebellar Cortex9.83 ± 0.19
Cerebellar Nuclei9.81 ± 0.23
Claustrum9.73 ± 0.35
Epithalamus10.36 ± 0.21
Frontal Lobe9.74 ± 0.25
Globus Pallidus10.29 ± 0.19
Hypothalamus10 ± 0.2
Insula9.68 ± 0.11
Limbic Lobe9.76 ± 0.26
Mesencephalon9.89 ± 0.17
Myelencephalon9.87 ± 0.27
Occipital Lobe10.04 ± 0.25
Parietal Lobe9.83 ± 0.23
Pontine Tegmentum9.89 ± 0.28
Striatum10.08 ± 0.23
Subthalamus9.82 ± 0.01
Temporal Lobe9.75 ± 0.21
Thalamus9.96 ± 0.16
White Matter10.63 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
G3bpCBCerebellum0.64
1.19
G3bpCTXCerebral cortex0.39
0.45
G3bpHIPHippocampal region2.06
1.74
G3bpHPFHippocampal formation1.66
1.45
G3bpHYHypothalamus1.4
2.17
G3bpLSXLateral septal complex0.43
2.43
G3bpMBMidbrain1.04
2.14
G3bpMYMedulla1.37
2.29
G3bpOLFOlfactory bulb1.12
1.37
G3bpPPons1.79
3.67
G3bpPALPallidum0.3
0.27
G3bpRHPRetrohippocampal region0.73
0.88
G3bpsAMYStriatum-like amygdalar nuclei0.52
0.71
G3bpSTRStriatum0.78
1.45
G3bpSTRdStriatum dorsal region0.39
0.63
G3bpSTRvStriatum ventral region2.71
4.28
G3bpTHThalamus0.46
0.53
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
G3BP1_HUMAN_1 13 1 13 MVMEKPSPLLVGR PRIDE
G3BP1_HUMAN_108 16 108 123 FMQTFVLAPEGSVANK PRIDE
G3BP1_HUMAN_133 27 133 159 YQDEVFGGFVTEPQEESEEEVEEPEER PRIDE
G3BP1_HUMAN_17 15 17 31 QYYTLLNQAPDMLHR PRIDE
G3BP1_HUMAN_18 15 18 32 QYYTLLNQAPDMLHR PRIDE
G3BP1_HUMAN_2 12 2 13 VMEKPSPLLVGR PRIDE
G3BP1_HUMAN_276 23 276 298 VPASQPRPESKPESQIPPQRPQR PRIDE
G3BP1_HUMAN_277 23 277 299 VPASQPRPESKPESQIPPQRPQR PRIDE
G3BP1_HUMAN_36 23 36 58 NSSYVHGGLDSNGKPADAVYGQK PRIDE
G3BP1_HUMAN_370 23 370 392 INSGGKLPNFGFVVFDDSEPVQK PRIDE
G3BP1_HUMAN_394 10 394 403 VLSNRPIMFR PRIDE
G3BP1_HUMAN_408 7 408 414 LNVEEKK PRIDE
G3BP1_HUMAN_78 28 78 105 HVDAHATLNDGVVVQVMGLLSNNNQALR PRIDE
G3BP1_HUMAN_79 28 79 106 HVDAHATLNDGVVVQVMGLLSNNNQALR PRIDE
PAp00003479 18 336 353 HPDSHQLFIGNLPHEVDK 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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