AutismKB 2.0

Annotation Detail for RABEP1


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Basic Information Top
Gene Symbol:RABEP1 ( RAB5EP,RABPT5 )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 1
Band: 17p13.2
Quick LinksEntrez ID:9135; OMIM: 603616; Uniprot ID:RABE1_HUMAN; ENSEMBL ID: ENSG00000029725; HGNC ID: 17677
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
blastocyst7 / 62319112
fetus69 / 564012122
neonate0 / 310970 
infant2 / 2362084
juvenile4 / 5555671
adult186 / 193912195
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) tumor30 / 94178318
cervical tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor28 / 263845106
glioma7 / 10688365
head and neck tumor16 / 136302117
kidney tumor9 / 68959130
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor9 / 10312787
lymphoma4 / 7175555
non-neoplasia11 / 97250113
normal297 / 336030788
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone5 / 7165569
bone marrow0 / 488010 
brain111 / 1100989100
cervix4 / 4817183
connective tissue29 / 149255194
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye22 / 211054104
heart6 / 8962666
intestine10 / 23447242
kidney23 / 211777108
larynx1 / 2414541
liver6 / 20774328
lung31 / 33697491
lymph2 / 4427045
lymph node22 / 91610240
mammary gland33 / 153271215
mouth8 / 67052119
muscle12 / 107715111
nerve5 / 15768317
ovary3 / 10205129
pancreas1 / 2148124
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta10 / 28082535
prostate13 / 18934568
salivary gland1 / 2015549
skin13 / 21057461
spleen1 / 5395218
stomach9 / 9661993
testis24 / 33044272
thymus7 / 8113186
thyroid6 / 47473126
tonsil2 / 16999117
trachea8 / 52413152
umbilical cord0 / 136800 
uterus17 / 23287872
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214552_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts41.8
Adipocyte7.25
AdrenalCortex7.85
Adrenalgland6.05
Amygdala7.75
Appendix8.6
AtrioventricularNode5.7
BDCA4+_DentriticCells16.5
Bonemarrow7.35
BronchialEpithelialCells7.05
CD105+_Endothelial10.7
CD14+_Monocytes8
CD19+_BCells(neg._sel.)14.85
CD33+_Myeloid13.45
CD34+9.65
CD4+_Tcells15.35
CD56+_NKCells10.7
CD71+_EarlyErythroid9.15
CD8+_Tcells14.75
CardiacMyocytes9.55
Caudatenucleus6.65
Cerebellum5.95
CerebellumPeduncles8.35
CiliaryGanglion5.7
CingulateCortex8.2
Colorectaladenocarcinoma7.1
DorsalRootGanglion6.35
FetalThyroid7.15
Fetalbrain8.45
Fetalliver6.45
Fetallung5.25
GlobusPallidus5.4
Heart14.2
Hypothalamus7.95
Kidney5.85
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.55
Leukemialymphoblastic(MOLT-4)5.8
Liver9.65
Lung7.15
Lymphnode5.9
Lymphoma_burkitts(Daudi)9.1
Lymphoma_burkitts(Raji)10.4
MedullaOblongata6.85
OccipitalLobe6.75
OlfactoryBulb5.85
Ovary5
Pancreas5.95
PancreaticIslet7.75
ParietalLobe7.7
Pituitary8.65
Placenta7.1
Pons7
PrefrontalCortex10.75
Prostate8.1
Salivarygland9.45
SkeletalMuscle8.95
Skin5.8
SmoothMuscle8.45
Spinalcord7.95
SubthalamicNucleus7.35
SuperiorCervicalGanglion9.25
TemporalLobe7.8
Testis6.2
TestisGermCell6.35
TestisIntersitial7.15
TestisLeydigCell7.4
TestisSeminiferousTubule6.4
Thalamus7.55
Thymus5.4
Thyroid9.05
Tongue7.25
Tonsil7.2
Trachea6.2
TrigeminalGanglion10.05
Uterus5.3
UterusCorpus7.75
WholeBlood8
Wholebrain6
colon7.35
pineal_day17.1
pineal_night14.74
retina9.1
small_intestine6.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P78158
  • 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
Amygdala7.47 ± 0.32
Basal Forebrain7.69 ± 0.21
Basal Part of Pons7.81 ± 0.21
Cerebellar Cortex7.25 ± 0.26
Cerebellar Nuclei7.94 ± 0.16
Claustrum7.55 ± 0.47
Epithalamus7.54 ± 0.29
Frontal Lobe7.7 ± 0.29
Globus Pallidus7.92 ± 0.25
Hypothalamus7.66 ± 0.27
Insula7.66 ± 0.27
Limbic Lobe7.6 ± 0.41
Mesencephalon7.78 ± 0.37
Myelencephalon7.6 ± 0.37
Occipital Lobe7.52 ± 0.46
Parietal Lobe7.62 ± 0.36
Pontine Tegmentum7.56 ± 0.34
Striatum7.42 ± 0.43
Subthalamus8.02 ± 0.06
Temporal Lobe7.73 ± 0.25
Thalamus7.6 ± 0.35
White Matter7.98 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rabep1CBCerebellum21.35
30.77
Rabep1CTXCerebral cortex27.54
19.91
Rabep1HIPHippocampal region16.09
16.86
Rabep1HPFHippocampal formation16.81
15.13
Rabep1HYHypothalamus3.8
3.04
Rabep1LSXLateral septal complex10.36
7.21
Rabep1MBMidbrain15.67
13.6
Rabep1MYMedulla21.8
21.82
Rabep1OLFOlfactory bulb18.24
14
Rabep1PPons15.8
15.26
Rabep1PALPallidum12.83
11.57
Rabep1RHPRetrohippocampal region18.36
13.2
Rabep1sAMYStriatum-like amygdalar nuclei14.48
10.78
Rabep1STRStriatum10.88
7.83
Rabep1STRdStriatum dorsal region10.85
7.89
Rabep1STRvStriatum ventral region9.58
5.97
Rabep1THThalamus14.75
11.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002140 13 258 270 ELHEVCHLLEQER Peptide Atlas
RABE1_HUMAN_148 5 148 152 EYAER PRIDE
RABE1_HUMAN_2 16 2 17 AQPGPASQPDVSLQQR PRIDE
RABE1_HUMAN_623 13 623 635 DVQEQMAVLMQSR 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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