AutismKB 2.0

Annotation Detail for RAPGEF6


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Basic Information Top
Gene Symbol:RAPGEF6 ( DKFZp667N084,DKFZp686I15116,KIA001LB,PDZ-GEF2,PDZGEF2,RA-GEF-2,RAGEF2 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 6
Band: 5q31.1
Quick LinksEntrez ID:51735; OMIM: 610499; Uniprot ID:RPGF6_HUMAN; ENSEMBL ID: ENSG00000158987,ENSG00000217128; HGNC ID: 20655
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 body3 / 7076142
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult52 / 193912126
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal91 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus2 / 2020998
eye3 / 21105414
heart0 / 896260 
intestine11 / 23447246
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph0 / 442700 
lymph node11 / 91610120
mammary gland5 / 15327132
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis14 / 33044242
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219112_at
Cell line Expression level Expression bar
721_B_lymphoblasts70.5
Adipocyte11.2
AdrenalCortex14.4
Adrenalgland9.2
Amygdala10.65
Appendix12.65
AtrioventricularNode12.55
BDCA4+_DentriticCells56.1
Bonemarrow11.2
BronchialEpithelialCells15.8
CD105+_Endothelial54
CD14+_Monocytes26.05
CD19+_BCells(neg._sel.)129.4
CD33+_Myeloid74.25
CD34+45.65
CD4+_Tcells450.55
CD56+_NKCells117.7
CD71+_EarlyErythroid77.05
CD8+_Tcells434.75
CardiacMyocytes19.95
Caudatenucleus9.25
Cerebellum8.3
CerebellumPeduncles14.1
CiliaryGanglion10.1
CingulateCortex23.8
Colorectaladenocarcinoma10.1
DorsalRootGanglion16
FetalThyroid14.05
Fetalbrain10.1
Fetalliver18.55
Fetallung7.65
GlobusPallidus17
Heart14.95
Hypothalamus14.5
Kidney9.2
Leukemia_chronicMyelogenousK-5629
Leukemia_promyelocytic-HL-609.5
Leukemialymphoblastic(MOLT-4)8.35
Liver15.1
Lung11.1
Lymphnode8.25
Lymphoma_burkitts(Daudi)14.3
Lymphoma_burkitts(Raji)16.15
MedullaOblongata17.95
OccipitalLobe13.75
OlfactoryBulb32.2
Ovary7.3
Pancreas11.9
PancreaticIslet11.35
ParietalLobe17.7
Pituitary11.95
Placenta11.3
Pons11.8
PrefrontalCortex12.15
Prostate11.75
Salivarygland8.7
SkeletalMuscle44.25
Skin15.8
SmoothMuscle12.25
Spinalcord10.55
SubthalamicNucleus12.55
SuperiorCervicalGanglion17.1
TemporalLobe10.25
Testis8.3
TestisGermCell10.85
TestisIntersitial9.35
TestisLeydigCell11.45
TestisSeminiferousTubule9.85
Thalamus10.35
Thymus9.25
Thyroid11.5
Tongue12.5
Tonsil37.45
Trachea8.3
TrigeminalGanglion13.75
Uterus8.8
UterusCorpus11.05
WholeBlood11.3
Wholebrain8.25
colon11.25
pineal_day83.32
pineal_night65.5
retina20.35
small_intestine10.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13500_PI416261804
  • 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
Amygdala5.09 ± 0.5
Basal Forebrain5.61 ± 0.25
Basal Part of Pons5.63 ± 0.35
Cerebellar Cortex5.7 ± 0.23
Cerebellar Nuclei5.6 ± 0.37
Claustrum5.07 ± 0.68
Epithalamus5.65 ± 0.41
Frontal Lobe4.97 ± 0.39
Globus Pallidus5.69 ± 0.41
Hypothalamus4.79 ± 0.42
Insula4.96 ± 0.42
Limbic Lobe5.11 ± 0.52
Mesencephalon5.2 ± 0.49
Myelencephalon5.28 ± 0.49
Occipital Lobe5.93 ± 0.55
Parietal Lobe5.27 ± 0.37
Pontine Tegmentum5.21 ± 0.52
Striatum5.41 ± 0.56
Subthalamus4.9 ± 0.73
Temporal Lobe5.27 ± 0.4
Thalamus5.41 ± 0.42
White Matter6.83 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rapgef6CBCerebellum0.67
0.9
Rapgef6CTXCerebral cortex1.02
0.57
Rapgef6HIPHippocampal region4.42
3.15
Rapgef6HPFHippocampal formation4.12
2.31
Rapgef6HYHypothalamus0.35
0.14
Rapgef6LSXLateral septal complex1.11
0.53
Rapgef6MBMidbrain0.75
0.56
Rapgef6MYMedulla2.53
1.7
Rapgef6OLFOlfactory bulb2.68
1.11
Rapgef6PPons1.84
1.32
Rapgef6PALPallidum0.67
0.29
Rapgef6RHPRetrohippocampal region3.62
1.37
Rapgef6sAMYStriatum-like amygdalar nuclei0.92
0.89
Rapgef6STRStriatum0.91
0.5
Rapgef6STRdStriatum dorsal region0.39
0.3
Rapgef6STRvStriatum ventral region2.39
0.82
Rapgef6THThalamus0.65
0.48
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040828 23 1393 1415 HTHLDDPIAEVEPTDSEPYSCSK Peptide Atlas
RPGF6_HUMAN_1 10 1 10 MNSPVDPGAR PRIDE
RPGF6_HUMAN_530 9 530 538 QVVLQKASR 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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