AutismKB 2.0

Annotation Detail for RAB8A


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Basic Information Top
Gene Symbol:RAB8A ( MEL,RAB8 )
Gene Full Name: RAB8A, member RAS oncogene family
Band: 19p13.11
Quick LinksEntrez ID:4218; OMIM: 165040; Uniprot ID:RAB8A_HUMAN; ENSEMBL ID: ENSG00000167461; HGNC ID: 7007
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 body5 / 7076170
blastocyst8 / 62319128
fetus21 / 56401237
neonate4 / 31097128
infant2 / 2362084
juvenile7 / 55556125
adult131 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor9 / 34366261
chondrosarcoma9 / 82823108
colorectal tumor11 / 11424696
esophageal tumor5 / 17290289
gastrointestinal tumor9 / 11936975
germ cell tumor27 / 263845102
glioma10 / 10688393
head and neck tumor7 / 13630251
kidney tumor8 / 68959116
leukemia8 / 9584283
liver tumor16 / 96359166
lung tumor25 / 103127242
lymphoma18 / 71755250
non-neoplasia7 / 9725071
normal239 / 336030771
ovarian tumor8 / 76682104
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer13 / 102680126
retinoblastoma3 / 4635664
skin tumor36 / 124949288
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites3 / 4001574
bladder5 / 29757168
blood17 / 123478137
bone7 / 7165597
bone marrow6 / 48801122
brain75 / 110098968
cervix10 / 48171207
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus5 / 20209247
eye10 / 21105447
heart2 / 8962622
intestine30 / 234472127
kidney19 / 21177789
larynx0 / 241450 
liver21 / 207743101
lung51 / 336974151
lymph11 / 44270248
lymph node5 / 9161054
mammary gland9 / 15327158
mouth4 / 6705259
muscle6 / 10771555
nerve2 / 15768126
ovary8 / 10205178
pancreas18 / 21481283
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta27 / 28082596
prostate19 / 189345100
salivary gland2 / 2015599
skin43 / 210574204
spleen8 / 53952148
stomach9 / 9661993
testis21 / 33044263
thymus6 / 8113173
thyroid1 / 4747321
tonsil3 / 16999176
trachea1 / 5241319
umbilical cord0 / 136800 
uterus23 / 23287898
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208819_at
Cell line Expression level Expression bar
721_B_lymphoblasts1179.35
Adipocyte80.85
AdrenalCortex55
Adrenalgland76.4
Amygdala65.35
Appendix51.45
AtrioventricularNode19.1
BDCA4+_DentriticCells1055.25
Bonemarrow160.7
BronchialEpithelialCells176.3
CD105+_Endothelial382.5
CD14+_Monocytes879.45
CD19+_BCells(neg._sel.)321.25
CD33+_Myeloid1001.5
CD34+647.15
CD4+_Tcells298.15
CD56+_NKCells985.75
CD71+_EarlyErythroid115.45
CD8+_Tcells238.65
CardiacMyocytes124.85
Caudatenucleus52.45
Cerebellum47.2
CerebellumPeduncles52.65
CiliaryGanglion19
CingulateCortex58.9
Colorectaladenocarcinoma144.4
DorsalRootGanglion40.55
FetalThyroid61.4
Fetalbrain53.45
Fetalliver74.75
Fetallung63.25
GlobusPallidus41
Heart121
Hypothalamus63.95
Kidney85.3
Leukemia_chronicMyelogenousK-56263.95
Leukemia_promyelocytic-HL-60162.3
Leukemialymphoblastic(MOLT-4)198.15
Liver397.25
Lung809.65
Lymphnode71.75
Lymphoma_burkitts(Daudi)233.35
Lymphoma_burkitts(Raji)108.05
MedullaOblongata49.15
OccipitalLobe49.6
OlfactoryBulb76.9
Ovary37.45
Pancreas61.7
PancreaticIslet106.15
ParietalLobe53.8
Pituitary65.3
Placenta190.85
Pons35.35
PrefrontalCortex78
Prostate352
Salivarygland62.4
SkeletalMuscle19.95
Skin41.55
SmoothMuscle135.85
Spinalcord90.5
SubthalamicNucleus31.75
SuperiorCervicalGanglion37.4
TemporalLobe51.2
Testis117.3
TestisGermCell88.6
TestisIntersitial55
TestisLeydigCell59.45
TestisSeminiferousTubule62.8
Thalamus62.2
Thymus295.15
Thyroid103.9
Tongue54.4
Tonsil215.4
Trachea76.8
TrigeminalGanglion20.3
Uterus64.35
UterusCorpus52.2
WholeBlood959.9
Wholebrain71.45
colon309.8
pineal_day76.68
pineal_night77.06
retina90.275
small_intestine486.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P164752
  • 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
Amygdala7.59 ± 0.31
Basal Forebrain7.34 ± 0.24
Basal Part of Pons7.3 ± 0.18
Cerebellar Cortex7.4 ± 0.26
Cerebellar Nuclei7.82 ± 0.3
Claustrum7.74 ± 0.41
Epithalamus7.67 ± 0.27
Frontal Lobe7.33 ± 0.32
Globus Pallidus8.13 ± 0.14
Hypothalamus7.44 ± 0.44
Insula7.34 ± 0.23
Limbic Lobe7.53 ± 0.35
Mesencephalon7.56 ± 0.28
Myelencephalon7.49 ± 0.31
Occipital Lobe7.44 ± 0.3
Parietal Lobe7.42 ± 0.38
Pontine Tegmentum7.47 ± 0.44
Striatum7.54 ± 0.32
Subthalamus7.35 ± 0.24
Temporal Lobe7.42 ± 0.29
Thalamus7.41 ± 0.26
White Matter8.52 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rab8aCBCerebellum3.76
4.28
Rab8aCTXCerebral cortex1.51
1.49
Rab8aHIPHippocampal region1.88
2.25
Rab8aHPFHippocampal formation1.5
1.73
Rab8aHYHypothalamus1.39
1.16
Rab8aLSXLateral septal complex0.37
0.43
Rab8aMBMidbrain1.41
1.51
Rab8aMYMedulla2.12
2.5
Rab8aOLFOlfactory bulb6.57
5.34
Rab8aPPons2.67
2.79
Rab8aPALPallidum0.92
0.97
Rab8aRHPRetrohippocampal region0.82
0.97
Rab8asAMYStriatum-like amygdalar nuclei0.71
0.58
Rab8aSTRStriatum1.21
1.06
Rab8aSTRdStriatum dorsal region0.99
1.01
Rab8aSTRvStriatum ventral region2.77
1.87
Rab8aTHThalamus1.41
1.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002568 19 28 46 FSEDAFNSTFISTIGIDFK Peptide Atlas
RAB8A_HUMAN_0 0 0 0 ANINVENAFFTLAR PRIDE
RAB8A_HUMAN_0 0 0 0 LLLIGDSGVGK PRIDE
RAB8A_HUMAN_0 0 0 0 NIEEHASADVEK PRIDE
RAB8A_HUMAN_10 11 10 20 LLLIGDSGVGK PRIDE
RAB8A_HUMAN_104 12 104 115 NIEEHASADVEK PRIDE
RAB8A_HUMAN_116 13 116 128 MILGNKCDVNDKR PRIDE
RAB8A_HUMAN_153 14 153 166 ANINVENAFFTLAR PRIDE
RAB8A_HUMAN_3 7 3 9 TYDYLFK PRIDE
RAB8A_HUMAN_56 13 56 68 IKLQIWDTAGQER PRIDE
RAB8A_HUMAN_58 11 58 68 LQIWDTAGQER PRIDE
RAB8A_HUMAN_71 8 71 78 TITTAYYR PRIDE
RAB8A_HUMAN_79 15 79 93 GAMGIMLVYDITNEK 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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