AutismKB 2.0

Annotation Detail for RAPGEF3


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Basic Information Top
Gene Symbol:RAPGEF3 ( CAMP-GEFI,EPAC,EPAC1,HSU79275,MGC21410,bcm910 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 3
Band: 12q13.11
Quick LinksEntrez ID:10411; OMIM: 606057; Uniprot ID:A8K2G5_HUMAN; ENSEMBL ID: ENSG00000079337; HGNC ID: 16629
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 
blastocyst1 / 6231916
fetus12 / 56401221
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult59 / 193912130
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal135 / 336030740
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain82 / 110098974
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye1 / 2110544
heart3 / 8962633
intestine4 / 23447217
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland7 / 15327145
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta16 / 28082556
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen4 / 5395274
stomach0 / 966190 
testis5 / 33044215
thymus2 / 8113124
thyroid7 / 47473147
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord7 / 13680511
uterus24 / 232878103
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210051_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte4.15
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.5
Appendix4.2
AtrioventricularNode3.3
BDCA4+_DentriticCells4.7
Bonemarrow4.1
BronchialEpithelialCells4.05
CD105+_Endothelial4.25
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.55
CD33+_Myeloid5.45
CD34+5.4
CD4+_Tcells4.65
CD56+_NKCells5.1
CD71+_EarlyErythroid3.95
CD8+_Tcells4
CardiacMyocytes5.3
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.75
CiliaryGanglion3
CingulateCortex4.3
Colorectaladenocarcinoma8.3
DorsalRootGanglion3.25
FetalThyroid8.25
Fetalbrain4.1
Fetalliver3.65
Fetallung3.45
GlobusPallidus3.05
Heart5.4
Hypothalamus5.55
Kidney3.45
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.45
Liver5.55
Lung4.85
Lymphnode3.7
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.85
MedullaOblongata3.9
OccipitalLobe5.35
OlfactoryBulb3.35
Ovary2.85
Pancreas3.4
PancreaticIslet4.5
ParietalLobe4.4
Pituitary4.9
Placenta4.45
Pons4
PrefrontalCortex11.05
Prostate5
Salivarygland3.35
SkeletalMuscle5.75
Skin3.4
SmoothMuscle4.75
Spinalcord4.7
SubthalamicNucleus3.8
SuperiorCervicalGanglion5.75
TemporalLobe3.85
Testis3.65
TestisGermCell3.6
TestisIntersitial3.55
TestisLeydigCell4.1
TestisSeminiferousTubule3.65
Thalamus4.3
Thymus3.25
Thyroid9.9
Tongue4.15
Tonsil4.1
Trachea3.5
TrigeminalGanglion4.6
Uterus5.75
UterusCorpus3.8
WholeBlood4.5
Wholebrain4.15
colon4.15
pineal_day12.08
pineal_night7.44
retina5.175
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P151307
  • 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
Amygdala4.25 ± 0.59
Basal Forebrain4.61 ± 0.42
Basal Part of Pons4.11 ± 0.61
Cerebellar Cortex3.68 ± 0.51
Cerebellar Nuclei4.49 ± 0.66
Claustrum3.41 ± 1
Epithalamus4.1 ± 0.82
Frontal Lobe4.29 ± 0.79
Globus Pallidus5.32 ± 0.27
Hypothalamus3.96 ± 0.46
Insula4.04 ± 0.53
Limbic Lobe4.1 ± 0.87
Mesencephalon4.36 ± 0.84
Myelencephalon4.36 ± 0.69
Occipital Lobe4.69 ± 0.66
Parietal Lobe4.31 ± 0.6
Pontine Tegmentum4.47 ± 0.72
Striatum4.93 ± 0.44
Subthalamus4.26 ± 0.14
Temporal Lobe4.25 ± 0.54
Thalamus4.55 ± 0.71
White Matter6.49 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rapgef3CBCerebellum76.26
97.24
Rapgef3CTXCerebral cortex94.06
74.7
Rapgef3HIPHippocampal region77.32
76.95
Rapgef3HPFHippocampal formation92.19
85.96
Rapgef3HYHypothalamus84.82
67.63
Rapgef3LSXLateral septal complex100
100
Rapgef3MBMidbrain92.11
77.32
Rapgef3MYMedulla77.54
65.48
Rapgef3OLFOlfactory bulb100
100
Rapgef3PPons82.09
68.95
Rapgef3PALPallidum91.02
79.82
Rapgef3RHPRetrohippocampal region100
96.42
Rapgef3sAMYStriatum-like amygdalar nuclei100
100
Rapgef3STRStriatum86.32
69.65
Rapgef3STRdStriatum dorsal region75.54
61.91
Rapgef3STRvStriatum ventral region87.53
60.83
Rapgef3THThalamus99.65
86.18
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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