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
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal78 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain38 / 110098934
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid9 / 20539438
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis9 / 33044227
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
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


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