AutismKB 2.0

Annotation Detail for RALGAPB


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Basic Information Top
Gene Symbol:RALGAPB ( DKFZp686N19168,DKFZp781M2411,FLJ43270,FLJ43928,KIAA1219,RalGAPbeta,dJ1100H13.1 )
Gene Full Name: Ral GTPase activating protein, beta subunit (non-catalytic)
Band: 20q11.23
Quick LinksEntrez ID:57148; OMIM: NA; Uniprot ID:RLGPB_HUMAN; ENSEMBL ID: ENSG00000170471; HGNC ID: 29221
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 body7 / 7076198
blastocyst3 / 6231948
fetus40 / 56401270
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult120 / 193912161
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) tumor7 / 9417874
cervical tumor5 / 34366145
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor28 / 263845106
glioma9 / 10688384
head and neck tumor10 / 13630273
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal185 / 336030755
ovarian tumor8 / 76682104
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood3 / 12347824
bone6 / 7165583
bone marrow0 / 488010 
brain53 / 110098948
cervix5 / 48171103
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye11 / 21105452
heart8 / 8962689
intestine14 / 23447259
kidney15 / 21177770
larynx0 / 241450 
liver4 / 20774319
lung25 / 33697474
lymph1 / 4427022
lymph node15 / 91610163
mammary gland22 / 153271143
mouth4 / 6705259
muscle3 / 10771527
nerve1 / 1576863
ovary7 / 10205168
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta13 / 28082546
prostate7 / 18934536
salivary gland0 / 201550 
skin16 / 21057475
spleen1 / 5395218
stomach4 / 9661941
testis36 / 330442108
thymus3 / 8113136
thyroid5 / 47473105
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus12 / 23287851
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221736_at
Cell line Expression level Expression bar
721_B_lymphoblasts35.1
Adipocyte12.4
AdrenalCortex13.9
Adrenalgland11.6
Amygdala61.55
Appendix13.25
AtrioventricularNode12
BDCA4+_DentriticCells25.6
Bonemarrow12.95
BronchialEpithelialCells12.55
CD105+_Endothelial18.95
CD14+_Monocytes14.15
CD19+_BCells(neg._sel.)30.5
CD33+_Myeloid34.85
CD34+50.95
CD4+_Tcells123.95
CD56+_NKCells69.1
CD71+_EarlyErythroid11.25
CD8+_Tcells129
CardiacMyocytes21.95
Caudatenucleus23.1
Cerebellum18.45
CerebellumPeduncles17.55
CiliaryGanglion10.85
CingulateCortex22.05
Colorectaladenocarcinoma29.5
DorsalRootGanglion11.35
FetalThyroid13.65
Fetalbrain37.25
Fetalliver12.15
Fetallung11.35
GlobusPallidus12.05
Heart15.95
Hypothalamus35.75
Kidney11.55
Leukemia_chronicMyelogenousK-56214.15
Leukemia_promyelocytic-HL-6011.85
Leukemialymphoblastic(MOLT-4)48.1
Liver17.4
Lung13.9
Lymphnode28
Lymphoma_burkitts(Daudi)18.4
Lymphoma_burkitts(Raji)22.7
MedullaOblongata16.2
OccipitalLobe42.45
OlfactoryBulb10.55
Ovary8.6
Pancreas10.4
PancreaticIslet19.3
ParietalLobe15.45
Pituitary34.15
Placenta19.1
Pons16.5
PrefrontalCortex72
Prostate20.8
Salivarygland12.7
SkeletalMuscle15.15
Skin11.1
SmoothMuscle19.9
Spinalcord16.6
SubthalamicNucleus23.05
SuperiorCervicalGanglion15.1
TemporalLobe13.05
Testis11.3
TestisGermCell22
TestisIntersitial10.95
TestisLeydigCell13
TestisSeminiferousTubule11.25
Thalamus25.85
Thymus16.85
Thyroid28.05
Tongue12.85
Tonsil19.6
Trachea14.45
TrigeminalGanglion13.25
Uterus19.35
UterusCorpus13.2
WholeBlood37.3
Wholebrain14.7
colon19.15
pineal_day76.16
pineal_night171.1
retina24.85
small_intestine22.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P400066
  • 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
Amygdala7.5 ± 0.41
Basal Forebrain7.43 ± 0.11
Basal Part of Pons7.6 ± 0.2
Cerebellar Cortex7.8 ± 0.1
Cerebellar Nuclei7.7 ± 0.23
Claustrum7.45 ± 0.36
Epithalamus7.45 ± 0.19
Frontal Lobe7.67 ± 0.23
Globus Pallidus7.02 ± 0.14
Hypothalamus7.59 ± 0.22
Insula7.65 ± 0.24
Limbic Lobe7.55 ± 0.34
Mesencephalon7.47 ± 0.33
Myelencephalon7.5 ± 0.32
Occipital Lobe7.4 ± 0.33
Parietal Lobe7.61 ± 0.26
Pontine Tegmentum7.59 ± 0.25
Striatum7.23 ± 0.25
Subthalamus7.88 ± 0.18
Temporal Lobe7.63 ± 0.24
Thalamus7.47 ± 0.27
White Matter6.96 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
B230339M05RikCBCerebellum62.27
100
B230339M05RikCTXCerebral cortex100
100
B230339M05RikHIPHippocampal region95
100
B230339M05RikHPFHippocampal formation100
100
B230339M05RikHYHypothalamus72.72
58.6
B230339M05RikLSXLateral septal complex100
93.82
B230339M05RikMBMidbrain77.99
75.71
B230339M05RikMYMedulla72.82
84.39
B230339M05RikOLFOlfactory bulb100
100
B230339M05RikPPons63.54
69.02
B230339M05RikPALPallidum69.02
64.33
B230339M05RikRHPRetrohippocampal region100
100
B230339M05RiksAMYStriatum-like amygdalar nuclei100
100
B230339M05RikSTRStriatum100
92.12
B230339M05RikSTRdStriatum dorsal region100
95.57
B230339M05RikSTRvStriatum ventral region100
75.28
B230339M05RikTHThalamus98.45
94.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027699 22 1088 1109 SFPDPVTDCKPPPPAQEFQTAR Peptide Atlas

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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