AutismKB 2.0

Annotation Detail for RAB40C


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Basic Information Top
Gene Symbol:RAB40C ( RARL,RASL8C )
Gene Full Name: RAB40C, member RAS oncogene family
Band: 16p13.3
Quick LinksEntrez ID:57799; OMIM: NA; Uniprot ID:RB40C_HUMAN; ENSEMBL ID: ENSG00000197562; HGNC ID: 18285
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 body0 / 707610 
blastocyst3 / 6231948
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult113 / 193912158
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 tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma10 / 10688393
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor7 / 10312767
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal149 / 336030744
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer8 / 10268077
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood4 / 12347832
bone2 / 7165527
bone marrow1 / 4880120
brain51 / 110098946
cervix5 / 48171103
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye12 / 21105456
heart7 / 8962678
intestine19 / 23447281
kidney5 / 21177723
larynx0 / 241450 
liver3 / 20774314
lung33 / 33697497
lymph2 / 4427045
lymph node1 / 9161010
mammary gland4 / 15327126
mouth1 / 6705214
muscle0 / 1077150 
nerve1 / 1576863
ovary7 / 10205168
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate21 / 189345110
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213466_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte5.25
AdrenalCortex5.5
Adrenalgland4.45
Amygdala5.65
Appendix5.3
AtrioventricularNode4.05
BDCA4+_DentriticCells5.5
Bonemarrow5.2
BronchialEpithelialCells5.25
CD105+_Endothelial5.25
CD14+_Monocytes5.65
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid6.8
CD34+6.7
CD4+_Tcells5.6
CD56+_NKCells6.3
CD71+_EarlyErythroid4.95
CD8+_Tcells4.8
CardiacMyocytes6.8
Caudatenucleus4.75
Cerebellum4.3
CerebellumPeduncles5.95
CiliaryGanglion3.7
CingulateCortex5.55
Colorectaladenocarcinoma5.35
DorsalRootGanglion4
FetalThyroid5.1
Fetalbrain5.3
Fetalliver4.55
Fetallung4.35
GlobusPallidus3.9
Heart6.75
Hypothalamus5.75
Kidney4.3
Leukemia_chronicMyelogenousK-5624.75
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)4.25
Liver7
Lung5.9
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.7
Lymphoma_burkitts(Raji)7.4
MedullaOblongata4.85
OccipitalLobe4.75
OlfactoryBulb4.15
Ovary3.45
Pancreas4.2
PancreaticIslet5.6
ParietalLobe5.55
Pituitary6.15
Placenta5.5
Pons5.25
PrefrontalCortex6.6
Prostate6.2
Salivarygland4.2
SkeletalMuscle6.1
Skin4.05
SmoothMuscle6
Spinalcord5.65
SubthalamicNucleus4.85
SuperiorCervicalGanglion5.95
TemporalLobe4.85
Testis4.5
TestisGermCell4.4
TestisIntersitial4.4
TestisLeydigCell5.25
TestisSeminiferousTubule4.55
Thalamus5.35
Thymus4.15
Thyroid6.65
Tongue5.15
Tonsil5.15
Trachea4.45
TrigeminalGanglion5.25
Uterus4.3
UterusCorpus4.7
WholeBlood5.85
Wholebrain4.65
colon5.35
pineal_day6.46
pineal_night6.4
retina6.475
small_intestine5.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P396062
  • 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
Amygdala6.85 ± 0.39
Basal Forebrain6.07 ± 0.48
Basal Part of Pons6.48 ± 0.49
Cerebellar Cortex6.38 ± 0.45
Cerebellar Nuclei5.61 ± 0.66
Claustrum6.71 ± 0.43
Epithalamus5.58 ± 0.49
Frontal Lobe6.46 ± 0.54
Globus Pallidus4.78 ± 0.6
Hypothalamus5.77 ± 0.47
Insula6.49 ± 0.29
Limbic Lobe6.61 ± 0.53
Mesencephalon6.07 ± 0.47
Myelencephalon6.3 ± 0.57
Occipital Lobe6.33 ± 0.43
Parietal Lobe6.38 ± 0.5
Pontine Tegmentum6.21 ± 0.53
Striatum6.05 ± 0.51
Subthalamus5.73 ± 0.75
Temporal Lobe6.62 ± 0.42
Thalamus6.13 ± 0.39
White Matter5.03 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rab40cCBCerebellum9.31
10.37
Rab40cCTXCerebral cortex4.3
2.92
Rab40cHIPHippocampal region9.28
8.97
Rab40cHPFHippocampal formation6.4
5.85
Rab40cHYHypothalamus0.43
0.35
Rab40cLSXLateral septal complex0.49
0.27
Rab40cMBMidbrain0.82
0.77
Rab40cMYMedulla1.32
1.24
Rab40cOLFOlfactory bulb6.54
5.36
Rab40cPPons0.85
0.77
Rab40cPALPallidum0.29
0.24
Rab40cRHPRetrohippocampal region2.2
1.96
Rab40csAMYStriatum-like amygdalar nuclei0.07
0.04
Rab40cSTRStriatum1.59
1.06
Rab40cSTRdStriatum dorsal region1.86
1.23
Rab40cSTRvStriatum ventral region1.95
1.3
Rab40cTHThalamus7.57
5.96
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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