AutismKB 2.0

Annotation Detail for RAPGEF4


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Basic Information Top
Gene Symbol:RAPGEF4 ( CAMP-GEFII,CGEF2,EPAC2,Nbla00496 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 4
Band: 2q31.1
Quick LinksEntrez ID:11069; OMIM: 606058; Uniprot ID:RPGF4_HUMAN; ENSEMBL ID: ENSG00000091428; HGNC ID: 16626
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 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult34 / 193912117
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal165 / 336030749
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain182 / 1100989165
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine1 / 2344724
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach5 / 9661951
testis10 / 33044230
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205651_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts9
Adipocyte8.4
AdrenalCortex17.8
Adrenalgland12.95
Amygdala868.1
Appendix13.15
AtrioventricularNode14.95
BDCA4+_DentriticCells8.6
Bonemarrow10.5
BronchialEpithelialCells8.15
CD105+_Endothelial8.55
CD14+_Monocytes10.05
CD19+_BCells(neg._sel.)9.15
CD33+_Myeloid10.5
CD34+10.6
CD4+_Tcells8.45
CD56+_NKCells9.7
CD71+_EarlyErythroid8.85
CD8+_Tcells7.75
CardiacMyocytes19.4
Caudatenucleus17.4
Cerebellum12.4
CerebellumPeduncles13
CiliaryGanglion13.7
CingulateCortex73.4
Colorectaladenocarcinoma8.5
DorsalRootGanglion9.45
FetalThyroid10.05
Fetalbrain9.9
Fetalliver8
Fetallung6.5
GlobusPallidus45.85
Heart16.65
Hypothalamus43.8
Kidney8.75
Leukemia_chronicMyelogenousK-5627.9
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)6.5
Liver14.95
Lung9.4
Lymphnode6.95
Lymphoma_burkitts(Daudi)12.35
Lymphoma_burkitts(Raji)14.8
MedullaOblongata20.5
OccipitalLobe96.6
OlfactoryBulb6.75
Ovary7.25
Pancreas7.75
PancreaticIslet9.95
ParietalLobe23.65
Pituitary10.5
Placenta8.4
Pons12.4
PrefrontalCortex288.5
Prostate9.6
Salivarygland7.7
SkeletalMuscle15.7
Skin10.7
SmoothMuscle9.85
Spinalcord9.65
SubthalamicNucleus63.3
SuperiorCervicalGanglion24.2
TemporalLobe63
Testis7.3
TestisGermCell7.35
TestisIntersitial8.6
TestisLeydigCell9.95
TestisSeminiferousTubule7.65
Thalamus23.85
Thymus6.2
Thyroid10.35
Tongue11.1
Tonsil9.2
Trachea7.05
TrigeminalGanglion16.2
Uterus6.95
UterusCorpus9.95
WholeBlood9
Wholebrain54.8
colon8.75
pineal_day50.84
pineal_night27.52
retina15.95
small_intestine8.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_532_PI416408490
  • 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
Amygdala6.3 ± 0.65
Basal Forebrain5.57 ± 0.47
Basal Part of Pons6.26 ± 0.39
Cerebellar Cortex5.65 ± 0.38
Cerebellar Nuclei4.56 ± 0.58
Claustrum5.94 ± 0.6
Epithalamus4.43 ± 0.89
Frontal Lobe5.88 ± 0.57
Globus Pallidus4.34 ± 1.07
Hypothalamus4.97 ± 0.62
Insula6.08 ± 0.42
Limbic Lobe6.21 ± 0.44
Mesencephalon5.37 ± 0.77
Myelencephalon5.68 ± 0.69
Occipital Lobe5.1 ± 0.76
Parietal Lobe5.81 ± 0.63
Pontine Tegmentum5.5 ± 0.67
Striatum4.68 ± 0.82
Subthalamus5.56 ± 0.2
Temporal Lobe6.25 ± 0.47
Thalamus6.1 ± 0.58
White Matter5.26 ± 0.91
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rapgef4CBCerebellum38.3
46.92
Rapgef4CTXCerebral cortex94.09
80.02
Rapgef4HIPHippocampal region50.92
84.68
Rapgef4HPFHippocampal formation67.14
85.49
Rapgef4HYHypothalamus21.08
18.83
Rapgef4LSXLateral septal complex74.36
63.39
Rapgef4MBMidbrain30.3
31.24
Rapgef4MYMedulla37.48
50.55
Rapgef4OLFOlfactory bulb86.78
82.2
Rapgef4PPons34.32
45.47
Rapgef4PALPallidum31.22
29.53
Rapgef4RHPRetrohippocampal region91.79
87.11
Rapgef4sAMYStriatum-like amygdalar nuclei47.75
38.96
Rapgef4STRStriatum52.15
40.56
Rapgef4STRdStriatum dorsal region49.8
38.34
Rapgef4STRvStriatum ventral region54.9
40.94
Rapgef4THThalamus14.49
16.27
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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