AutismKB 2.0

Annotation Detail for RABL2A


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Basic Information Top
Gene Symbol:RABL2A ( FLJ78724,MGC117180 )
Gene Full Name: RAB, member of RAS oncogene family-like 2A
Band: 2q14.1
Quick LinksEntrez ID:11159; OMIM: 605412; Uniprot ID:RBL2A_HUMAN; ENSEMBL ID: ENSG00000144134; HGNC ID: 9799
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 body2 / 7076128
blastocyst1 / 6231916
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult61 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal86 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone3 / 7165541
bone marrow1 / 4880120
brain25 / 110098922
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine2 / 2344728
kidney4 / 21177718
larynx2 / 2414582
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate6 / 18934531
salivary gland0 / 201550 
skin1 / 2105744
spleen4 / 5395274
stomach0 / 966190 
testis9 / 33044227
thymus1 / 8113112
thyroid5 / 47473105
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219151_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.35
Adipocyte14.3
AdrenalCortex16.15
Adrenalgland12.65
Amygdala37.95
Appendix15.7
AtrioventricularNode12.3
BDCA4+_DentriticCells17.5
Bonemarrow14.65
BronchialEpithelialCells12.85
CD105+_Endothelial13.65
CD14+_Monocytes15.55
CD19+_BCells(neg._sel.)24.75
CD33+_Myeloid16.65
CD34+19.7
CD4+_Tcells35.9
CD56+_NKCells22.9
CD71+_EarlyErythroid12.95
CD8+_Tcells30.4
CardiacMyocytes20
Caudatenucleus21.05
Cerebellum13.8
CerebellumPeduncles17.9
CiliaryGanglion11.35
CingulateCortex23.15
Colorectaladenocarcinoma15.6
DorsalRootGanglion11.55
FetalThyroid17
Fetalbrain119.9
Fetalliver12.05
Fetallung23
GlobusPallidus11.6
Heart20.05
Hypothalamus24.35
Kidney13.2
Leukemia_chronicMyelogenousK-56212.2
Leukemia_promyelocytic-HL-6013
Leukemialymphoblastic(MOLT-4)12.6
Liver20.15
Lung22.6
Lymphnode18.3
Lymphoma_burkitts(Daudi)19.05
Lymphoma_burkitts(Raji)20.55
MedullaOblongata13.5
OccipitalLobe18.9
OlfactoryBulb12.85
Ovary9.75
Pancreas11.25
PancreaticIslet22.45
ParietalLobe16.75
Pituitary17.05
Placenta12.05
Pons14.9
PrefrontalCortex63.3
Prostate17.05
Salivarygland12.6
SkeletalMuscle17.9
Skin12.15
SmoothMuscle17
Spinalcord19
SubthalamicNucleus14.1
SuperiorCervicalGanglion18.2
TemporalLobe14.05
Testis24.7
TestisGermCell26.6
TestisIntersitial21.7
TestisLeydigCell16.15
TestisSeminiferousTubule20.95
Thalamus16.4
Thymus20.65
Thyroid40.1
Tongue14.8
Tonsil14.45
Trachea16.2
TrigeminalGanglion15.45
Uterus17.6
UterusCorpus13.3
WholeBlood17.35
Wholebrain19.8
colon15.1
pineal_day23.88
pineal_night22.36
retina25.575
small_intestine18.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P88721
  • 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
Amygdala6.83 ± 0.4
Basal Forebrain6.85 ± 0.23
Basal Part of Pons7.45 ± 0.4
Cerebellar Cortex7.26 ± 0.28
Cerebellar Nuclei6.78 ± 0.28
Claustrum6.67 ± 0.97
Epithalamus8.13 ± 0.82
Frontal Lobe7.03 ± 0.4
Globus Pallidus5.91 ± 0.38
Hypothalamus6.96 ± 0.38
Insula7.05 ± 0.26
Limbic Lobe6.97 ± 0.53
Mesencephalon6.75 ± 0.51
Myelencephalon6.97 ± 0.57
Occipital Lobe7.08 ± 0.45
Parietal Lobe7.03 ± 0.51
Pontine Tegmentum6.88 ± 0.36
Striatum6.89 ± 0.51
Subthalamus6.91 ± 0.35
Temporal Lobe7.13 ± 0.44
Thalamus6.71 ± 0.35
White Matter6.29 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rabl2aCBCerebellum1.79
2.06
Rabl2aCTXCerebral cortex2.4
1.83
Rabl2aHIPHippocampal region3.02
2.41
Rabl2aHPFHippocampal formation2.72
1.99
Rabl2aHYHypothalamus5.26
3.46
Rabl2aLSXLateral septal complex0.24
0.15
Rabl2aMBMidbrain1.24
1.05
Rabl2aMYMedulla1.95
2.14
Rabl2aOLFOlfactory bulb2.77
1.83
Rabl2aPPons2.7
2.91
Rabl2aPALPallidum1.35
1.1
Rabl2aRHPRetrohippocampal region2.08
1.31
Rabl2asAMYStriatum-like amygdalar nuclei5.43
3.46
Rabl2aSTRStriatum0.71
0.5
Rabl2aSTRdStriatum dorsal region0.19
0.19
Rabl2aSTRvStriatum ventral region0.66
0.44
Rabl2aTHThalamus1.31
1.28
Peptide Top

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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