AutismKB 2.0

Annotation Detail for RAP1GAP2


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Basic Information Top
Gene Symbol:RAP1GAP2 ( DKFZp686O238,GARNL4,KIAA1039,RAP1GA3 )
Gene Full Name: RAP1 GTPase activating protein 2
Band: 17p13.3
Quick LinksEntrez ID:23108; OMIM: NA; Uniprot ID:RPGP2_HUMAN; ENSEMBL ID: ENSG00000132359; HGNC ID: 29176
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 
blastocyst6 / 6231996
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult49 / 193912125
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal68 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain35 / 110098931
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine9 / 23447238
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta11 / 28082539
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213280_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.55
Adipocyte9.9
AdrenalCortex12.3
Adrenalgland8.95
Amygdala176.6
Appendix12
AtrioventricularNode9.25
BDCA4+_DentriticCells72
Bonemarrow14.45
BronchialEpithelialCells11.1
CD105+_Endothelial10.25
CD14+_Monocytes13.05
CD19+_BCells(neg._sel.)11.8
CD33+_Myeloid29.4
CD34+15.25
CD4+_Tcells23.05
CD56+_NKCells154.95
CD71+_EarlyErythroid9.1
CD8+_Tcells17.2
CardiacMyocytes14.1
Caudatenucleus10.75
Cerebellum69.05
CerebellumPeduncles62.25
CiliaryGanglion9.2
CingulateCortex28.6
Colorectaladenocarcinoma20.35
DorsalRootGanglion17.9
FetalThyroid10.75
Fetalbrain144.45
Fetalliver8.65
Fetallung7.25
GlobusPallidus21.55
Heart16.05
Hypothalamus17.65
Kidney9.05
Leukemia_chronicMyelogenousK-5629
Leukemia_promyelocytic-HL-608.05
Leukemialymphoblastic(MOLT-4)7.55
Liver14.75
Lung12.8
Lymphnode8.9
Lymphoma_burkitts(Daudi)12.95
Lymphoma_burkitts(Raji)15
MedullaOblongata19.4
OccipitalLobe27.95
OlfactoryBulb7.7
Ovary7.55
Pancreas10.5
PancreaticIslet55.75
ParietalLobe17.1
Pituitary14.05
Placenta40.9
Pons13.85
PrefrontalCortex236.3
Prostate13.15
Salivarygland10.95
SkeletalMuscle13.95
Skin9.3
SmoothMuscle12.5
Spinalcord11.2
SubthalamicNucleus47.25
SuperiorCervicalGanglion20.75
TemporalLobe29.45
Testis9.6
TestisGermCell7.45
TestisIntersitial8.25
TestisLeydigCell10.75
TestisSeminiferousTubule9
Thalamus12.2
Thymus8.5
Thyroid15.1
Tongue10.8
Tonsil10.6
Trachea9.3
TrigeminalGanglion11.9
Uterus7.75
UterusCorpus10.1
WholeBlood121.35
Wholebrain142.25
colon11
pineal_day49.24
pineal_night59.82
retina13.575
small_intestine9.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P911927
  • 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
Amygdala7.19 ± 0.4
Basal Forebrain6.25 ± 0.4
Basal Part of Pons6.84 ± 0.57
Cerebellar Cortex6.86 ± 0.34
Cerebellar Nuclei6.01 ± 0.41
Claustrum7.63 ± 0.43
Epithalamus5.33 ± 0.92
Frontal Lobe6.47 ± 0.63
Globus Pallidus5.41 ± 0.28
Hypothalamus6.09 ± 0.41
Insula6.72 ± 0.42
Limbic Lobe7.08 ± 0.63
Mesencephalon6.56 ± 0.82
Myelencephalon6.39 ± 0.76
Occipital Lobe6.92 ± 0.66
Parietal Lobe6.62 ± 0.65
Pontine Tegmentum6.4 ± 0.62
Striatum5.25 ± 0.66
Subthalamus6.67 ± 0.68
Temporal Lobe6.74 ± 0.52
Thalamus6.05 ± 0.62
White Matter3.68 ± 0.7
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Garnl4CBCerebellum49.37
88.41
Garnl4CTXCerebral cortex100
100
Garnl4HIPHippocampal region61.35
100
Garnl4HPFHippocampal formation78.85
100
Garnl4HYHypothalamus58.46
60.68
Garnl4LSXLateral septal complex2.66
2.19
Garnl4MBMidbrain69.61
73.96
Garnl4MYMedulla62.6
77.65
Garnl4OLFOlfactory bulb100
100
Garnl4PPons65.31
77.31
Garnl4PALPallidum69.14
77.98
Garnl4RHPRetrohippocampal region100
100
Garnl4sAMYStriatum-like amygdalar nuclei71.95
67.67
Garnl4STRStriatum45.86
39.48
Garnl4STRdStriatum dorsal region45.32
39.31
Garnl4STRvStriatum ventral region48.41
36.74
Garnl4THThalamus63.51
70.08
Peptide Top

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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