AutismKB 2.0

Annotation Detail for AP3B2


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Basic Information Top
Gene Symbol:AP3B2 ( DKFZp686D17136,NAPTB )
Gene Full Name: adaptor-related protein complex 3, beta 2 subunit
Band: 15q25.2
Quick LinksEntrez ID:8120; OMIM: 602166; Uniprot ID:AP3B2_HUMAN; ENSEMBL ID: ENSG00000103723; HGNC ID: 567
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 
blastocyst1 / 6231916
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205678_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.95
Adipocyte8.4
AdrenalCortex7.3
Adrenalgland5.5
Amygdala55.85
Appendix7.55
AtrioventricularNode5.4
BDCA4+_DentriticCells6.15
Bonemarrow6.75
BronchialEpithelialCells6
CD105+_Endothelial6.45
CD14+_Monocytes7.25
CD19+_BCells(neg._sel.)6.7
CD33+_Myeloid8.15
CD34+7.7
CD4+_Tcells6.75
CD56+_NKCells7.1
CD71+_EarlyErythroid6.15
CD8+_Tcells6
CardiacMyocytes8.15
Caudatenucleus7.15
Cerebellum26.15
CerebellumPeduncles48.3
CiliaryGanglion5.4
CingulateCortex32.95
Colorectaladenocarcinoma6.8
DorsalRootGanglion5.8
FetalThyroid6.3
Fetalbrain49.4
Fetalliver5.8
Fetallung5.25
GlobusPallidus52.9
Heart8.6
Hypothalamus22.9
Kidney5
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-605.8
Leukemialymphoblastic(MOLT-4)5.05
Liver8.8
Lung7
Lymphnode5.55
Lymphoma_burkitts(Daudi)8.05
Lymphoma_burkitts(Raji)9.8
MedullaOblongata13.5
OccipitalLobe20.4
OlfactoryBulb5.3
Ovary5.6
Pancreas5.5
PancreaticIslet7.15
ParietalLobe19.9
Pituitary9.9
Placenta5.85
Pons8.5
PrefrontalCortex68.65
Prostate7.5
Salivarygland5.15
SkeletalMuscle8.15
Skin6.2
SmoothMuscle7
Spinalcord7.25
SubthalamicNucleus19.1
SuperiorCervicalGanglion8
TemporalLobe10.3
Testis6.8
TestisGermCell6
TestisIntersitial7.6
TestisLeydigCell6.8
TestisSeminiferousTubule6
Thalamus14.9
Thymus4.9
Thyroid8.25
Tongue9.15
Tonsil6.5
Trachea5.3
TrigeminalGanglion7.6
Uterus5.55
UterusCorpus7.35
WholeBlood7.1
Wholebrain47.4
colon6.3
pineal_day45.44
pineal_night32.9
retina11.7
small_intestine6.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4840_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
Amygdala7.57 ± 0.35
Basal Forebrain6.97 ± 0.15
Basal Part of Pons7.81 ± 0.16
Cerebellar Cortex7.55 ± 0.23
Cerebellar Nuclei6.8 ± 0.34
Claustrum7.47 ± 0.3
Epithalamus6.2 ± 0.55
Frontal Lobe7.32 ± 0.39
Globus Pallidus6.1 ± 0.35
Hypothalamus6.98 ± 0.5
Insula7.45 ± 0.19
Limbic Lobe7.63 ± 0.29
Mesencephalon7.12 ± 0.52
Myelencephalon7.2 ± 0.52
Occipital Lobe7.08 ± 0.3
Parietal Lobe7.21 ± 0.39
Pontine Tegmentum7.06 ± 0.42
Striatum6.38 ± 0.38
Subthalamus7.06 ± 0.36
Temporal Lobe7.46 ± 0.31
Thalamus7.1 ± 0.31
White Matter5.56 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap3b2CBCerebellum65.89
100
Ap3b2CTXCerebral cortex100
100
Ap3b2HIPHippocampal region100
100
Ap3b2HPFHippocampal formation100
100
Ap3b2HYHypothalamus100
100
Ap3b2LSXLateral septal complex100
100
Ap3b2MBMidbrain100
100
Ap3b2MYMedulla100
100
Ap3b2OLFOlfactory bulb100
100
Ap3b2PPons99.66
100
Ap3b2PALPallidum100
100
Ap3b2RHPRetrohippocampal region100
100
Ap3b2sAMYStriatum-like amygdalar nuclei100
100
Ap3b2STRStriatum100
100
Ap3b2STRdStriatum dorsal region94.94
93.58
Ap3b2STRvStriatum ventral region100
93.48
Ap3b2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00073521 14 473 486 LLQMQPAQHGEIIK 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