AutismKB 2.0

Annotation Detail for PCDHGB1


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Basic Information Top
Gene Symbol:PCDHGB1 ( MGC119466,MGC119467,MGC119469,PCDH-GAMMA-B1 )
Gene Full Name: protocadherin gamma subfamily B, 1
Band: 5q31
Quick LinksEntrez ID:56104; OMIM: 606299; Uniprot ID:PCDGD_HUMAN; ENSEMBL ID: ENSG00000081853,ENSG00000240184,ENSG00000240764,EN; HGNC ID: 8708
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209079_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.5
Adipocyte331.15
AdrenalCortex90.75
Adrenalgland257.95
Amygdala3124.35
Appendix116.5
AtrioventricularNode40.6
BDCA4+_DentriticCells99.75
Bonemarrow33.85
BronchialEpithelialCells59.7
CD105+_Endothelial20.85
CD14+_Monocytes16.45
CD19+_BCells(neg._sel.)16.1
CD33+_Myeloid23.9
CD34+27.25
CD4+_Tcells22.15
CD56+_NKCells14.05
CD71+_EarlyErythroid39.7
CD8+_Tcells17.6
CardiacMyocytes123.05
Caudatenucleus1045.2
Cerebellum961.45
CerebellumPeduncles535
CiliaryGanglion54.7
CingulateCortex657.45
Colorectaladenocarcinoma73.65
DorsalRootGanglion79
FetalThyroid278.35
Fetalbrain866.2
Fetalliver25.8
Fetallung353.4
GlobusPallidus205.9
Heart119.2
Hypothalamus1013.2
Kidney61.2
Leukemia_chronicMyelogenousK-56220.8
Leukemia_promyelocytic-HL-6021.35
Leukemialymphoblastic(MOLT-4)29.35
Liver125.25
Lung837.2
Lymphnode46.6
Lymphoma_burkitts(Daudi)168.3
Lymphoma_burkitts(Raji)67.35
MedullaOblongata451.05
OccipitalLobe692.3
OlfactoryBulb401.05
Ovary97.9
Pancreas51.65
PancreaticIslet140.1
ParietalLobe415.4
Pituitary243.1
Placenta216
Pons253.3
PrefrontalCortex2087.4
Prostate340.25
Salivarygland63.65
SkeletalMuscle20.7
Skin69.8
SmoothMuscle210.6
Spinalcord1032.85
SubthalamicNucleus370.85
SuperiorCervicalGanglion105.25
TemporalLobe346.9
Testis110.15
TestisGermCell126.75
TestisIntersitial73
TestisLeydigCell83.75
TestisSeminiferousTubule81.35
Thalamus570.1
Thymus82.7
Thyroid493.25
Tongue99.75
Tonsil38.75
Trachea179.85
TrigeminalGanglion73.1
Uterus289.3
UterusCorpus174.2
WholeBlood16.7
Wholebrain1006.55
colon76.65
pineal_day2167.04
pineal_night1897.1
retina1532.45
small_intestine60.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1111_PI416261804
  • 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
Amygdala4.17 ± 0.72
Basal Forebrain4.09 ± 0.47
Basal Part of Pons3.82 ± 0.48
Cerebellar Cortex4.64 ± 0.31
Cerebellar Nuclei3.68 ± 0.52
Claustrum4 ± 0.8
Epithalamus4.43 ± 0.6
Frontal Lobe3.87 ± 0.68
Globus Pallidus4.63 ± 0.9
Hypothalamus3.5 ± 0.37
Insula3.64 ± 0.54
Limbic Lobe4.22 ± 0.8
Mesencephalon4.2 ± 0.66
Myelencephalon4.07 ± 0.7
Occipital Lobe4.71 ± 0.72
Parietal Lobe4.03 ± 0.67
Pontine Tegmentum3.98 ± 0.67
Striatum4.06 ± 0.65
Subthalamus3.42 ± 0.59
Temporal Lobe3.8 ± 0.62
Thalamus4.2 ± 0.48
White Matter4.31 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcdhgb1CBCerebellum2.5
3.83
Pcdhgb1CTXCerebral cortex0.67
0.82
Pcdhgb1HIPHippocampal region2.4
2.45
Pcdhgb1HPFHippocampal formation1.75
1.75
Pcdhgb1HYHypothalamus0.06
0.09
Pcdhgb1LSXLateral septal complex0.2
0.12
Pcdhgb1MBMidbrain0.22
0.52
Pcdhgb1MYMedulla0.29
0.51
Pcdhgb1OLFOlfactory bulb0.54
1.54
Pcdhgb1PPons0.14
0.31
Pcdhgb1PALPallidum0.02
0.05
Pcdhgb1RHPRetrohippocampal region0.53
0.68
Pcdhgb1sAMYStriatum-like amygdalar nuclei0.05
0.41
Pcdhgb1STRStriatum0.14
0.22
Pcdhgb1STRdStriatum dorsal region0.14
0.19
Pcdhgb1STRvStriatum ventral region0.16
0.27
Pcdhgb1THThalamus0.26
0.3
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