AutismKB 2.0

Annotation Detail for RABEP2


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Basic Information Top
Gene Symbol:RABEP2 ( FLJ23282,FRA )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 2
Band: 16p11.2
Quick LinksEntrez ID:79874; OMIM: 611869; Uniprot ID:RABE2_HUMAN; ENSEMBL ID: ENSG00000177548; HGNC ID: 24817
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
blastocyst2 / 6231932
fetus17 / 56401230
neonate1 / 3109732
infant0 / 236200 
juvenile6 / 55556107
adult62 / 193912131
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) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor14 / 26384553
glioma6 / 10688356
head and neck tumor13 / 13630295
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma11 / 71755153
non-neoplasia7 / 9725071
normal174 / 336030751
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor12 / 12494996
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder2 / 2975767
blood9 / 12347872
bone3 / 7165541
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye8 / 21105437
heart5 / 8962655
intestine13 / 23447255
kidney14 / 21177766
larynx1 / 2414541
liver5 / 20774324
lung8 / 33697423
lymph4 / 4427090
lymph node0 / 916100 
mammary gland8 / 15327152
mouth11 / 67052164
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate18 / 18934595
salivary gland1 / 2015549
skin16 / 21057475
spleen22 / 53952407
stomach1 / 9661910
testis8 / 33044224
thymus9 / 81131110
thyroid2 / 4747342
tonsil2 / 16999117
trachea8 / 52413152
umbilical cord0 / 136800 
uterus6 / 23287825
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 77508_r_at
Cell line Expression level Expression bar
721_B_lymphoblasts58.75
Adipocyte46.05
AdrenalCortex71.7
Adrenalgland41.45
Amygdala22.55
Appendix54.95
AtrioventricularNode41
BDCA4+_DentriticCells53.85
Bonemarrow46.35
BronchialEpithelialCells39.85
CD105+_Endothelial46.35
CD14+_Monocytes48
CD19+_BCells(neg._sel.)79.45
CD33+_Myeloid58.95
CD34+62.8
CD4+_Tcells48.65
CD56+_NKCells60.3
CD71+_EarlyErythroid47.2
CD8+_Tcells44.4
CardiacMyocytes30.3
Caudatenucleus46.3
Cerebellum42.65
CerebellumPeduncles56.9
CiliaryGanglion33
CingulateCortex49.85
Colorectaladenocarcinoma33.2
DorsalRootGanglion56.35
FetalThyroid56.75
Fetalbrain50.15
Fetalliver40.6
Fetallung40.75
GlobusPallidus43.75
Heart58.9
Hypothalamus47.85
Kidney44.1
Leukemia_chronicMyelogenousK-56245.9
Leukemia_promyelocytic-HL-6043.55
Leukemialymphoblastic(MOLT-4)40.95
Liver56.6
Lung53
Lymphnode55.5
Lymphoma_burkitts(Daudi)67.9
Lymphoma_burkitts(Raji)61.15
MedullaOblongata49.95
OccipitalLobe42.65
OlfactoryBulb40.1
Ovary35.35
Pancreas38.25
PancreaticIslet50.55
ParietalLobe49.05
Pituitary77.6
Placenta43.5
Pons67.85
PrefrontalCortex53.5
Prostate56.3
Salivarygland44.15
SkeletalMuscle75.4
Skin58.3
SmoothMuscle36.15
Spinalcord78.55
SubthalamicNucleus42.4
SuperiorCervicalGanglion53.55
TemporalLobe58.25
Testis35.95
TestisGermCell38.9
TestisIntersitial39.65
TestisLeydigCell46.35
TestisSeminiferousTubule47.1
Thalamus50.85
Thymus34.65
Thyroid56.85
Tongue59.05
Tonsil49.2
Trachea48.75
TrigeminalGanglion54.8
Uterus32.8
UterusCorpus43.8
WholeBlood45.6
Wholebrain35
colon32.8
pineal_day52.14
pineal_night45.62
retina49.2
small_intestine31.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5307_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
Amygdala4.63 ± 0.66
Basal Forebrain4.71 ± 0.56
Basal Part of Pons4.52 ± 0.69
Cerebellar Cortex4.21 ± 0.31
Cerebellar Nuclei4.83 ± 0.22
Claustrum5.13 ± 0.58
Epithalamus4.13 ± 0.49
Frontal Lobe4.42 ± 0.45
Globus Pallidus5.59 ± 0.2
Hypothalamus4.31 ± 0.51
Insula4.35 ± 0.38
Limbic Lobe4.55 ± 0.59
Mesencephalon4.72 ± 0.51
Myelencephalon4.6 ± 0.55
Occipital Lobe4.74 ± 0.56
Parietal Lobe4.68 ± 0.59
Pontine Tegmentum4.48 ± 0.61
Striatum4.8 ± 0.53
Subthalamus4.42 ± 0.41
Temporal Lobe4.48 ± 0.45
Thalamus4.61 ± 0.47
White Matter5.82 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rabep2CBCerebellum44.09
40.52
Rabep2CTXCerebral cortex47.49
30.76
Rabep2HIPHippocampal region45.9
25.6
Rabep2HPFHippocampal formation47.47
29.88
Rabep2HYHypothalamus26.79
15.83
Rabep2LSXLateral septal complex22.08
10.81
Rabep2MBMidbrain24.51
17.12
Rabep2MYMedulla47.75
40.18
Rabep2OLFOlfactory bulb64.4
36.26
Rabep2PPons50.24
39.66
Rabep2PALPallidum21.4
14.58
Rabep2RHPRetrohippocampal region53.37
34.97
Rabep2sAMYStriatum-like amygdalar nuclei26.29
14.69
Rabep2STRStriatum17.5
9.52
Rabep2STRdStriatum dorsal region12.32
6.88
Rabep2STRvStriatum ventral region29.4
14.89
Rabep2THThalamus32.5
20.14
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RABE2_HUMAN_0 0 0 0 LQAELETSEQVQR PRIDE
RABE2_HUMAN_2 13 2 14 AAAAPVAADDDER PRIDE
RABE2_HUMAN_2 14 2 15 AAAAPVAADDDERR PRIDE
RABE2_HUMAN_314 9 314 322 DELQEGLRR PRIDE
RABE2_HUMAN_513 13 513 525 LQAELETSEQVQR 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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