AutismKB 2.0

Annotation Detail for AP3B1


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Basic Information Top
Gene Symbol:AP3B1 ( ADTB3,ADTB3A,HPS,HPS2,PE )
Gene Full Name: adaptor-related protein complex 3, beta 1 subunit
Band: 5q14.1
Quick LinksEntrez ID:8546; OMIM: 603401; Uniprot ID:AP3B1_HUMAN; ENSEMBL ID: ENSG00000132842; HGNC ID: 566
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 body4 / 7076156
blastocyst4 / 6231964
fetus25 / 56401244
neonate3 / 3109796
infant1 / 2362042
juvenile10 / 55556179
adult97 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma15 / 82823181
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor14 / 26384553
glioma2 / 10688318
head and neck tumor14 / 136302102
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia7 / 9725071
normal150 / 336030744
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder1 / 2975733
blood7 / 12347856
bone7 / 7165597
bone marrow0 / 488010 
brain38 / 110098934
cervix0 / 481710 
connective tissue18 / 149255120
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine10 / 23447242
kidney7 / 21177733
larynx0 / 241450 
liver14 / 20774367
lung11 / 33697432
lymph2 / 4427045
lymph node13 / 91610141
mammary gland10 / 15327165
mouth3 / 6705244
muscle11 / 107715102
nerve1 / 1576863
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta10 / 28082535
prostate4 / 18934521
salivary gland1 / 2015549
skin12 / 21057456
spleen3 / 5395255
stomach2 / 9661920
testis24 / 33044272
thymus5 / 8113161
thyroid10 / 47473210
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus14 / 23287860
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203142_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts258.5
Adipocyte139.75
AdrenalCortex94.4
Adrenalgland76.95
Amygdala87.2
Appendix92.85
AtrioventricularNode167.65
BDCA4+_DentriticCells198.6
Bonemarrow91.6
BronchialEpithelialCells154.3
CD105+_Endothelial82.5
CD14+_Monocytes151.1
CD19+_BCells(neg._sel.)296.25
CD33+_Myeloid265.3
CD34+114
CD4+_Tcells91.65
CD56+_NKCells130.25
CD71+_EarlyErythroid79.2
CD8+_Tcells61
CardiacMyocytes217.85
Caudatenucleus110.7
Cerebellum72.85
CerebellumPeduncles101.6
CiliaryGanglion112.15
CingulateCortex93.85
Colorectaladenocarcinoma55.25
DorsalRootGanglion108.3
FetalThyroid136.15
Fetalbrain90.05
Fetalliver85.85
Fetallung150.25
GlobusPallidus64.95
Heart103.8
Hypothalamus130.8
Kidney67.15
Leukemia_chronicMyelogenousK-562143.35
Leukemia_promyelocytic-HL-60105.35
Leukemialymphoblastic(MOLT-4)105.55
Liver104.7
Lung93.5
Lymphnode105.3
Lymphoma_burkitts(Daudi)209.6
Lymphoma_burkitts(Raji)106.75
MedullaOblongata93.7
OccipitalLobe77.1
OlfactoryBulb112.35
Ovary95.45
Pancreas70.4
PancreaticIslet171.5
ParietalLobe98.4
Pituitary430.1
Placenta102.1
Pons93.95
PrefrontalCortex99.95
Prostate96.2
Salivarygland105.3
SkeletalMuscle99.35
Skin131.8
SmoothMuscle631.35
Spinalcord110.15
SubthalamicNucleus91.25
SuperiorCervicalGanglion223.2
TemporalLobe76.45
Testis72.15
TestisGermCell95.9
TestisIntersitial74.15
TestisLeydigCell89
TestisSeminiferousTubule119.95
Thalamus80.3
Thymus64.25
Thyroid135.85
Tongue115.1
Tonsil109.15
Trachea94.1
TrigeminalGanglion205.8
Uterus88
UterusCorpus83.75
WholeBlood192.3
Wholebrain64.6
colon66.95
pineal_day104.5
pineal_night103.1
retina108.25
small_intestine34.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14396_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
Amygdala3.9 ± 0.62
Basal Forebrain4.56 ± 0.36
Basal Part of Pons4.23 ± 0.45
Cerebellar Cortex3.9 ± 0.49
Cerebellar Nuclei4.28 ± 0.57
Claustrum3.83 ± 0.74
Epithalamus4.35 ± 0.69
Frontal Lobe4.16 ± 0.55
Globus Pallidus5.32 ± 0.45
Hypothalamus4.28 ± 0.73
Insula4.22 ± 0.67
Limbic Lobe3.99 ± 0.5
Mesencephalon4.44 ± 0.62
Myelencephalon4.2 ± 0.58
Occipital Lobe4.1 ± 0.44
Parietal Lobe4.13 ± 0.53
Pontine Tegmentum4.2 ± 0.55
Striatum4.73 ± 0.4
Subthalamus3.88 ± 0.14
Temporal Lobe4.19 ± 0.5
Thalamus4.4 ± 0.41
White Matter5.73 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap3b1CBCerebellum27.38
35.82
Ap3b1CTXCerebral cortex87.3
68.47
Ap3b1HIPHippocampal region76.04
100
Ap3b1HPFHippocampal formation76.92
92.48
Ap3b1HYHypothalamus39.02
30.34
Ap3b1LSXLateral septal complex60.09
42.12
Ap3b1MBMidbrain52.52
49.4
Ap3b1MYMedulla50.27
53.42
Ap3b1OLFOlfactory bulb76.3
65.91
Ap3b1PPons48.09
51.84
Ap3b1PALPallidum46.61
42.02
Ap3b1RHPRetrohippocampal region79.68
64.45
Ap3b1sAMYStriatum-like amygdalar nuclei66.28
48.46
Ap3b1STRStriatum64.28
46.85
Ap3b1STRdStriatum dorsal region67.79
50.42
Ap3b1STRvStriatum ventral region50.39
34.38
Ap3b1THThalamus38.51
32.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AP3B1_HUMAN_144 13 144 156 VPIIVPIMMLAIK PRIDE
PAp00071646 17 596 612 KIFLAQKPAPLLESPFK 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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