AutismKB 2.0

Annotation Detail for RABGEF1


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Basic Information Top
Gene Symbol:RABGEF1 ( FLJ32302,RABEX5,rabex-5 )
Gene Full Name: RAB guanine nucleotide exchange factor (GEF) 1
Band: 7q11.21
Quick LinksEntrez ID:27342; OMIM: 609700; Uniprot ID:RABX5_HUMAN; ENSEMBL ID: ENSG00000154710,ENSG00000243335; HGNC ID: 17676
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
blastocyst3 / 6231948
fetus30 / 56401253
neonate5 / 31097160
infant1 / 2362042
juvenile0 / 555560 
adult121 / 193912162
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 tumor4 / 34366116
chondrosarcoma12 / 82823144
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor11 / 26384541
glioma8 / 10688374
head and neck tumor4 / 13630229
kidney tumor5 / 6895972
leukemia6 / 9584262
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma4 / 7175555
non-neoplasia7 / 9725071
normal198 / 336030758
ovarian tumor8 / 76682104
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood12 / 12347897
bone5 / 7165569
bone marrow0 / 488010 
brain51 / 110098946
cervix4 / 4817183
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus2 / 2020998
eye17 / 21105480
heart2 / 8962622
intestine13 / 23447255
kidney14 / 21177766
larynx1 / 2414541
liver5 / 20774324
lung12 / 33697435
lymph2 / 4427045
lymph node7 / 9161076
mammary gland5 / 15327132
mouth1 / 6705214
muscle5 / 10771546
nerve1 / 1576863
ovary9 / 10205188
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta8 / 28082528
prostate13 / 18934568
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach7 / 9661972
testis33 / 33044299
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218310_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.5
Adipocyte25.6
AdrenalCortex25.25
Adrenalgland17.75
Amygdala28.95
Appendix21.15
AtrioventricularNode11.8
BDCA4+_DentriticCells31.75
Bonemarrow14.45
BronchialEpithelialCells19.25
CD105+_Endothelial19.95
CD14+_Monocytes21.85
CD19+_BCells(neg._sel.)43.6
CD33+_Myeloid25.15
CD34+25.1
CD4+_Tcells20.95
CD56+_NKCells37.3
CD71+_EarlyErythroid17.05
CD8+_Tcells20.3
CardiacMyocytes15.1
Caudatenucleus21.4
Cerebellum16.75
CerebellumPeduncles23.35
CiliaryGanglion10.1
CingulateCortex39.35
Colorectaladenocarcinoma20.5
DorsalRootGanglion16
FetalThyroid23.45
Fetalbrain25
Fetalliver7.65
Fetallung16.1
GlobusPallidus16.65
Heart4.25
Hypothalamus49.1
Kidney14.45
Leukemia_chronicMyelogenousK-56217.55
Leukemia_promyelocytic-HL-6012.7
Leukemialymphoblastic(MOLT-4)12.45
Liver5.85
Lung15.35
Lymphnode17.5
Lymphoma_burkitts(Daudi)15.7
Lymphoma_burkitts(Raji)26.65
MedullaOblongata26.75
OccipitalLobe25.5
OlfactoryBulb16.35
Ovary13.9
Pancreas10.4
PancreaticIslet19.35
ParietalLobe22.85
Pituitary24.1
Placenta20.4
Pons18.9
PrefrontalCortex66.15
Prostate23.3
Salivarygland16
SkeletalMuscle23.65
Skin15.85
SmoothMuscle23.3
Spinalcord32.5
SubthalamicNucleus27.65
SuperiorCervicalGanglion23.15
TemporalLobe21.05
Testis18.6
TestisGermCell31
TestisIntersitial25.5
TestisLeydigCell20.55
TestisSeminiferousTubule21.35
Thalamus29.9
Thymus15.4
Thyroid38.5
Tongue20
Tonsil9.55
Trachea12
TrigeminalGanglion20.9
Uterus22.55
UterusCorpus17.35
WholeBlood21.95
Wholebrain19.45
colon17.8
pineal_day220.48
pineal_night355.72
retina30.075
small_intestine18.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P232049
  • 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
Amygdala7.22 ± 0.38
Basal Forebrain7.16 ± 0.24
Basal Part of Pons7.09 ± 0.27
Cerebellar Cortex7.09 ± 0.28
Cerebellar Nuclei7.1 ± 0.26
Claustrum7.18 ± 0.4
Epithalamus6.91 ± 0.22
Frontal Lobe7.01 ± 0.26
Globus Pallidus7.17 ± 0.22
Hypothalamus7.11 ± 0.28
Insula6.99 ± 0.2
Limbic Lobe7.09 ± 0.29
Mesencephalon7.12 ± 0.37
Myelencephalon7.02 ± 0.31
Occipital Lobe7.23 ± 0.27
Parietal Lobe7.2 ± 0.24
Pontine Tegmentum7.08 ± 0.34
Striatum6.72 ± 0.32
Subthalamus7.01 ± 0.55
Temporal Lobe7.12 ± 0.25
Thalamus7.11 ± 0.23
White Matter7.97 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rabgef1CBCerebellum19.71
31.05
Rabgef1CTXCerebral cortex48.22
38.8
Rabgef1HIPHippocampal region29.58
38.82
Rabgef1HPFHippocampal formation33.61
37.2
Rabgef1HYHypothalamus18.58
14.78
Rabgef1LSXLateral septal complex3.21
2.11
Rabgef1MBMidbrain19.62
18.77
Rabgef1MYMedulla27.48
35.3
Rabgef1OLFOlfactory bulb38.3
31.29
Rabgef1PPons21.89
26.02
Rabgef1PALPallidum21.1
20.56
Rabgef1RHPRetrohippocampal region44.55
37.32
Rabgef1sAMYStriatum-like amygdalar nuclei32.4
24.82
Rabgef1STRStriatum16.78
12.18
Rabgef1STRdStriatum dorsal region14.59
10.41
Rabgef1STRvStriatum ventral region21.4
14.44
Rabgef1THThalamus29.51
25.97
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00505231 24 456 479 YPLEIKPPNQPLAAIDSENVENDK Peptide Atlas

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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