AutismKB 2.0

Annotation Detail for ARFGAP3


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Basic Information Top
Gene Symbol:ARFGAP3 ( ARFGAP1,FLJ45618 )
Gene Full Name: ADP-ribosylation factor GTPase activating protein 3
Band: 22q13.2
Quick LinksEntrez ID:26286; OMIM: 612439; Uniprot ID:ARFG3_HUMAN; ENSEMBL ID: ENSG00000100266,ENSG00000242247; HGNC ID: 661
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
blastocyst0 / 623190 
fetus44 / 56401278
neonate2 / 3109764
infant1 / 2362042
juvenile6 / 55556107
adult151 / 193912177
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor7 / 11424661
esophageal tumor2 / 17290115
gastrointestinal tumor15 / 119369125
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor15 / 136302110
kidney tumor4 / 6895958
leukemia17 / 95842177
liver tumor8 / 9635983
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia8 / 9725082
normal268 / 336030779
ovarian tumor4 / 7668252
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites4 / 4001599
bladder3 / 29757100
blood15 / 123478121
bone9 / 71655125
bone marrow3 / 4880161
brain63 / 110098957
cervix8 / 48171166
connective tissue18 / 149255120
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus3 / 20209148
eye10 / 21105447
heart2 / 8962622
intestine12 / 23447251
kidney12 / 21177756
larynx7 / 24145289
liver16 / 20774377
lung12 / 33697435
lymph1 / 4427022
lymph node7 / 9161076
mammary gland9 / 15327158
mouth5 / 6705274
muscle6 / 10771555
nerve1 / 1576863
ovary4 / 10205139
pancreas23 / 214812107
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta28 / 28082599
prostate19 / 189345100
salivary gland1 / 2015549
skin8 / 21057437
spleen3 / 5395255
stomach14 / 96619144
testis70 / 330442211
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord1 / 1368073
uterus36 / 232878154
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202211_at
Cell line Expression level Expression bar
721_B_lymphoblasts261.2
Adipocyte55.2
AdrenalCortex161.65
Adrenalgland82
Amygdala94.65
Appendix61.65
AtrioventricularNode39.3
BDCA4+_DentriticCells390.75
Bonemarrow50.3
BronchialEpithelialCells162.3
CD105+_Endothelial77.95
CD14+_Monocytes78
CD19+_BCells(neg._sel.)104.8
CD33+_Myeloid182.75
CD34+128.4
CD4+_Tcells122.15
CD56+_NKCells361.8
CD71+_EarlyErythroid85.25
CD8+_Tcells84.55
CardiacMyocytes102.55
Caudatenucleus33.25
Cerebellum28.35
CerebellumPeduncles42.7
CiliaryGanglion38.5
CingulateCortex31.85
Colorectaladenocarcinoma137.85
DorsalRootGanglion38.15
FetalThyroid70.4
Fetalbrain77.25
Fetalliver81.1
Fetallung92.5
GlobusPallidus32.5
Heart46.25
Hypothalamus67.2
Kidney33.5
Leukemia_chronicMyelogenousK-56252.35
Leukemia_promyelocytic-HL-6029.35
Leukemialymphoblastic(MOLT-4)76.4
Liver84.45
Lung73.1
Lymphnode84.65
Lymphoma_burkitts(Daudi)97.9
Lymphoma_burkitts(Raji)102.15
MedullaOblongata25.55
OccipitalLobe37.55
OlfactoryBulb40.55
Ovary69.5
Pancreas79.65
PancreaticIslet217.3
ParietalLobe58.45
Pituitary133.5
Placenta110.55
Pons29
PrefrontalCortex58.3
Prostate419.6
Salivarygland116.85
SkeletalMuscle37.25
Skin35.15
SmoothMuscle142.95
Spinalcord44.15
SubthalamicNucleus24.45
SuperiorCervicalGanglion53.8
TemporalLobe31.4
Testis147.95
TestisGermCell88.3
TestisIntersitial162.6
TestisLeydigCell97.75
TestisSeminiferousTubule71.9
Thalamus34.7
Thymus35
Thyroid303.25
Tongue42.9
Tonsil64.3
Trachea93.8
TrigeminalGanglion48.9
Uterus115.9
UterusCorpus41.7
WholeBlood134.7
Wholebrain32.3
colon99.1
pineal_day198.34
pineal_night239.84
retina95.875
small_intestine158.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P68970
  • 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
Amygdala6.86 ± 0.55
Basal Forebrain7.27 ± 0.09
Basal Part of Pons7 ± 0.36
Cerebellar Cortex7.5 ± 0.22
Cerebellar Nuclei7.11 ± 0.31
Claustrum6.92 ± 0.53
Epithalamus7.73 ± 0.44
Frontal Lobe7.25 ± 0.36
Globus Pallidus7.26 ± 0.19
Hypothalamus7.62 ± 0.31
Insula7.46 ± 0.29
Limbic Lobe7.14 ± 0.33
Mesencephalon7.2 ± 0.37
Myelencephalon7.21 ± 0.36
Occipital Lobe6.86 ± 0.37
Parietal Lobe7.05 ± 0.37
Pontine Tegmentum7.1 ± 0.54
Striatum6.84 ± 0.27
Subthalamus7.17 ± 0.31
Temporal Lobe7.27 ± 0.37
Thalamus7.09 ± 0.36
White Matter7.96 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arfgap3CBCerebellum0
0
Arfgap3CTXCerebral cortex0
0
Arfgap3HIPHippocampal region0
0
Arfgap3HPFHippocampal formation0
0
Arfgap3HYHypothalamus0
0
Arfgap3LSXLateral septal complex0
0
Arfgap3MBMidbrain0
0
Arfgap3MYMedulla0
0
Arfgap3OLFOlfactory bulb0
0
Arfgap3PPons0
0
Arfgap3PALPallidum0
0
Arfgap3RHPRetrohippocampal region0
0
Arfgap3sAMYStriatum-like amygdalar nuclei0
0
Arfgap3STRStriatum0
0
Arfgap3STRdStriatum dorsal region0
0
Arfgap3STRvStriatum ventral region0
0
Arfgap3THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARFG3_HUMAN_2 14 2 15 GDPSKQDILTIFKR PRIDE
ARFG3_HUMAN_426 10 426 435 AISSDMYFGR PRIDE
ARFG3_HUMAN_436 9 436 444 QSQADYETR PRIDE
PAp00038403 30 176 205 TSRPVETTLENNEGGQEQGPSVEGLNVPTK 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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