AutismKB 2.0

Annotation Detail for RAPGEF2


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Basic Information Top
Gene Symbol:RAPGEF2 ( CNrasGEF,NRAPGEP,PDZ-GEF1,PDZGEF1,RA-GEF,Rap-GEP,nRap GEP )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 2
Band: 4q32.1
Quick LinksEntrez ID:9693; OMIM: 609530; Uniprot ID:RPGF2_HUMAN; ENSEMBL ID: ENSG00000109756; HGNC ID: 16854
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
blastocyst3 / 6231948
fetus50 / 56401288
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult79 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal173 / 336030751
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder1 / 2975733
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain55 / 110098949
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye13 / 21105461
heart2 / 8962622
intestine1 / 2344724
kidney9 / 21177742
larynx0 / 241450 
liver6 / 20774328
lung10 / 33697429
lymph0 / 442700 
lymph node4 / 9161043
mammary gland8 / 15327152
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta12 / 28082542
prostate0 / 1893450 
salivary gland1 / 2015549
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis3 / 3304429
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus6 / 23287825
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215992_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.4
Adipocyte7.1
AdrenalCortex9.5
Adrenalgland6.55
Amygdala7.25
Appendix9.15
AtrioventricularNode8.05
BDCA4+_DentriticCells7.95
Bonemarrow8.05
BronchialEpithelialCells7
CD105+_Endothelial7.6
CD14+_Monocytes8.1
CD19+_BCells(neg._sel.)7.8
CD33+_Myeloid19.45
CD34+10.4
CD4+_Tcells7.65
CD56+_NKCells8.7
CD71+_EarlyErythroid113.4
CD8+_Tcells7.05
CardiacMyocytes14.1
Caudatenucleus6.65
Cerebellum6.1
CerebellumPeduncles9.1
CiliaryGanglion7
CingulateCortex7.95
Colorectaladenocarcinoma7.35
DorsalRootGanglion6.4
FetalThyroid7.6
Fetalbrain7.05
Fetalliver6.65
Fetallung5.45
GlobusPallidus5.95
Heart12
Hypothalamus7.6
Kidney6.85
Leukemia_chronicMyelogenousK-5626.75
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)5.65
Liver11.5
Lung8.2
Lymphnode6.05
Lymphoma_burkitts(Daudi)9.75
Lymphoma_burkitts(Raji)11.35
MedullaOblongata6.9
OccipitalLobe6.75
OlfactoryBulb5.95
Ovary7.4
Pancreas6.35
PancreaticIslet8.15
ParietalLobe8.45
Pituitary8.6
Placenta7.15
Pons7.45
PrefrontalCortex9.1
Prostate8.25
Salivarygland6.35
SkeletalMuscle12.45
Skin7.05
SmoothMuscle8.35
Spinalcord8
SubthalamicNucleus7.2
SuperiorCervicalGanglion11.75
TemporalLobe7.15
Testis6.3
TestisGermCell6.05
TestisIntersitial6.35
TestisLeydigCell7.7
TestisSeminiferousTubule6.3
Thalamus7.75
Thymus5.4
Thyroid8.6
Tongue8.5
Tonsil7.35
Trachea6.2
TrigeminalGanglion9.9
Uterus5.9
UterusCorpus7.75
WholeBlood8
Wholebrain5.7
colon7.55
pineal_day9.48
pineal_night9.3
retina9.075
small_intestine7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P133095
  • 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 ± 0.54
Basal Forebrain9.74 ± 0.24
Basal Part of Pons10.17 ± 0.27
Cerebellar Cortex9.83 ± 0.15
Cerebellar Nuclei9.84 ± 0.33
Claustrum9.79 ± 0.45
Epithalamus9.8 ± 0.19
Frontal Lobe10.13 ± 0.31
Globus Pallidus9.26 ± 0.37
Hypothalamus9.84 ± 0.41
Insula10.1 ± 0.21
Limbic Lobe9.98 ± 0.52
Mesencephalon9.78 ± 0.4
Myelencephalon9.91 ± 0.4
Occipital Lobe9.69 ± 0.61
Parietal Lobe10.16 ± 0.45
Pontine Tegmentum9.97 ± 0.31
Striatum9.34 ± 0.51
Subthalamus10.27 ± 0.24
Temporal Lobe10.19 ± 0.3
Thalamus9.86 ± 0.29
White Matter9.18 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rapgef2CBCerebellum1.51
2.27
Rapgef2CTXCerebral cortex25.58
21.92
Rapgef2HIPHippocampal region42.31
74.13
Rapgef2HPFHippocampal formation37.83
52.92
Rapgef2HYHypothalamus0.24
0.18
Rapgef2LSXLateral septal complex3.31
2.69
Rapgef2MBMidbrain0.72
0.84
Rapgef2MYMedulla1.75
2.22
Rapgef2OLFOlfactory bulb17.41
14.81
Rapgef2PPons0.96
1.36
Rapgef2PALPallidum2.44
2.21
Rapgef2RHPRetrohippocampal region31.85
28.25
Rapgef2sAMYStriatum-like amygdalar nuclei13.1
9.43
Rapgef2STRStriatum25.94
19.99
Rapgef2STRdStriatum dorsal region33.47
25.72
Rapgef2STRvStriatum ventral region19.36
16
Rapgef2THThalamus2.08
2.89
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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