AutismKB 2.0

Annotation Detail for RAB3GAP2


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Basic Information Top
Gene Symbol:RAB3GAP2 ( DKFZp434D245,FLJ14579,KIAA0839,RAB3-GAP150,RAB3GAP150,p150 )
Gene Full Name: RAB3 GTPase activating protein subunit 2 (non-catalytic)
Band: 1q41
Quick LinksEntrez ID:25782; OMIM: 609275; Uniprot ID:RBGPR_HUMAN; ENSEMBL ID: ENSG00000118873; HGNC ID: 17168
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 body1 / 7076114
blastocyst5 / 6231980
fetus31 / 56401254
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult104 / 193912153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor8 / 11936967
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor6 / 13630244
kidney tumor6 / 6895987
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal161 / 336030747
ovarian tumor3 / 7668239
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites5 / 40015124
bladder2 / 2975767
blood3 / 12347824
bone5 / 7165569
bone marrow2 / 4880140
brain36 / 110098932
cervix1 / 4817120
connective tissue7 / 14925546
ear3 / 16212185
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye10 / 21105447
heart2 / 8962622
intestine3 / 23447212
kidney14 / 21177766
larynx1 / 2414541
liver7 / 20774333
lung17 / 33697450
lymph0 / 442700 
lymph node13 / 91610141
mammary gland8 / 15327152
mouth4 / 6705259
muscle5 / 10771546
nerve0 / 157680 
ovary5 / 10205148
pancreas11 / 21481251
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta17 / 28082560
prostate3 / 18934515
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach3 / 9661931
testis19 / 33044257
thymus0 / 811310 
thyroid2 / 4747342
tonsil2 / 16999117
trachea6 / 52413114
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202373_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts501.25
Adipocyte116.05
AdrenalCortex164.7
Adrenalgland73.55
Amygdala244.55
Appendix178.9
AtrioventricularNode118.85
BDCA4+_DentriticCells271.65
Bonemarrow78
BronchialEpithelialCells146.8
CD105+_Endothelial191.05
CD14+_Monocytes287.35
CD19+_BCells(neg._sel.)578.3
CD33+_Myeloid294.65
CD34+430.95
CD4+_Tcells483.95
CD56+_NKCells354.55
CD71+_EarlyErythroid140.2
CD8+_Tcells452
CardiacMyocytes128.55
Caudatenucleus113.05
Cerebellum76.2
CerebellumPeduncles187.25
CiliaryGanglion83.15
CingulateCortex254.55
Colorectaladenocarcinoma93.85
DorsalRootGanglion109
FetalThyroid186.8
Fetalbrain127.7
Fetalliver127.3
Fetallung79.15
GlobusPallidus174.55
Heart51.8
Hypothalamus180.95
Kidney64.65
Leukemia_chronicMyelogenousK-562198.55
Leukemia_promyelocytic-HL-60184.6
Leukemialymphoblastic(MOLT-4)78.1
Liver96.25
Lung71.35
Lymphnode98.65
Lymphoma_burkitts(Daudi)191.4
Lymphoma_burkitts(Raji)205.8
MedullaOblongata198.3
OccipitalLobe226
OlfactoryBulb183.95
Ovary76.35
Pancreas112
PancreaticIslet265.15
ParietalLobe244.8
Pituitary203.35
Placenta64.35
Pons168.85
PrefrontalCortex209.55
Prostate169.15
Salivarygland125.6
SkeletalMuscle165.75
Skin104
SmoothMuscle174.8
Spinalcord99.05
SubthalamicNucleus223.6
SuperiorCervicalGanglion143.8
TemporalLobe176.65
Testis66.85
TestisGermCell123.15
TestisIntersitial62.25
TestisLeydigCell97.95
TestisSeminiferousTubule80.75
Thalamus153.15
Thymus82.55
Thyroid273.5
Tongue115.3
Tonsil256.05
Trachea109.85
TrigeminalGanglion132.15
Uterus115.7
UterusCorpus124.05
WholeBlood103.7
Wholebrain93.9
colon128.1
pineal_day529.04
pineal_night533.2
retina145.225
small_intestine102.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P268210
  • 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
Amygdala7.51 ± 0.36
Basal Forebrain7.64 ± 0.26
Basal Part of Pons7.72 ± 0.27
Cerebellar Cortex7.92 ± 0.21
Cerebellar Nuclei7.93 ± 0.36
Claustrum7.63 ± 0.49
Epithalamus7.65 ± 0.29
Frontal Lobe7.81 ± 0.29
Globus Pallidus7.23 ± 0.26
Hypothalamus7.84 ± 0.27
Insula7.7 ± 0.21
Limbic Lobe7.79 ± 0.35
Mesencephalon7.81 ± 0.4
Myelencephalon7.74 ± 0.35
Occipital Lobe8.07 ± 0.24
Parietal Lobe7.82 ± 0.31
Pontine Tegmentum7.78 ± 0.3
Striatum7.57 ± 0.26
Subthalamus8.25 ± 0.17
Temporal Lobe7.65 ± 0.29
Thalamus7.88 ± 0.3
White Matter7.34 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rab3gap2CBCerebellum58.65
100
Rab3gap2CTXCerebral cortex100
100
Rab3gap2HIPHippocampal region100
100
Rab3gap2HPFHippocampal formation100
100
Rab3gap2HYHypothalamus100
100
Rab3gap2LSXLateral septal complex100
99.02
Rab3gap2MBMidbrain100
100
Rab3gap2MYMedulla93.13
100
Rab3gap2OLFOlfactory bulb100
100
Rab3gap2PPons87.79
98.56
Rab3gap2PALPallidum100
100
Rab3gap2RHPRetrohippocampal region100
100
Rab3gap2sAMYStriatum-like amygdalar nuclei100
100
Rab3gap2STRStriatum100
100
Rab3gap2STRdStriatum dorsal region100
99.07
Rab3gap2STRvStriatum ventral region100
100
Rab3gap2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00008690 14 1220 1233 VVSAAVQAQHSATK Peptide Atlas
RBGPR_HUMAN_0 0 0 0 QIFNAHVQNGIALMMWNTFLVKR PRIDE
RBGPR_HUMAN_1042 23 1042 1064 QIFNAHVQNGIALMMWNTFLVKR PRIDE
RBGPR_HUMAN_957 20 957 976 LANEERDAENPDEPKEGVNR 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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