AutismKB 2.0

Annotation Detail for AP1B1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AP1B1 ( ADTB1,AP105A,BAM22,CLAPB2 )
Gene Full Name: adaptor-related protein complex 1, beta 1 subunit
Band: 22q12.2
Quick LinksEntrez ID:162; OMIM: 600157; Uniprot ID:AP1B1_HUMAN; ENSEMBL ID: ENSG00000100280; HGNC ID: 554
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 body5 / 7076170
blastocyst1 / 6231916
fetus8 / 56401214
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult77 / 193912139
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma18 / 71755250
non-neoplasia0 / 972500 
normal56 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer7 / 10268068
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood5 / 12347840
bone0 / 716550 
bone marrow0 / 488010 
brain23 / 110098920
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine14 / 23447259
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph9 / 44270203
lymph node2 / 9161021
mammary gland5 / 15327132
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate12 / 18934563
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach5 / 9661951
testis1 / 3304423
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205423_at
Cell line Expression level Expression bar
721_B_lymphoblasts195.6
Adipocyte56
AdrenalCortex130.2
Adrenalgland102.25
Amygdala94.85
Appendix100.35
AtrioventricularNode121.7
BDCA4+_DentriticCells119.35
Bonemarrow111.15
BronchialEpithelialCells103.4
CD105+_Endothelial204.75
CD14+_Monocytes244.85
CD19+_BCells(neg._sel.)217.6
CD33+_Myeloid238.1
CD34+158.85
CD4+_Tcells101.9
CD56+_NKCells142.65
CD71+_EarlyErythroid231.35
CD8+_Tcells96.45
CardiacMyocytes142.55
Caudatenucleus110.75
Cerebellum81
CerebellumPeduncles195.4
CiliaryGanglion64.1
CingulateCortex130.4
Colorectaladenocarcinoma96.55
DorsalRootGanglion103.1
FetalThyroid95.85
Fetalbrain90.8
Fetalliver52.85
Fetallung62.15
GlobusPallidus81.3
Heart152.7
Hypothalamus123.7
Kidney85
Leukemia_chronicMyelogenousK-56297.6
Leukemia_promyelocytic-HL-6071.45
Leukemialymphoblastic(MOLT-4)76.7
Liver125.3
Lung241
Lymphnode83.4
Lymphoma_burkitts(Daudi)106.65
Lymphoma_burkitts(Raji)169.15
MedullaOblongata92.25
OccipitalLobe124.8
OlfactoryBulb67.05
Ovary82.6
Pancreas65.5
PancreaticIslet80.5
ParietalLobe105.05
Pituitary86.75
Placenta150.8
Pons129.7
PrefrontalCortex156.9
Prostate370
Salivarygland63.6
SkeletalMuscle106.35
Skin78
SmoothMuscle109.65
Spinalcord112.4
SubthalamicNucleus96
SuperiorCervicalGanglion102.7
TemporalLobe110.05
Testis64.45
TestisGermCell82.15
TestisIntersitial71.5
TestisLeydigCell135.95
TestisSeminiferousTubule97.9
Thalamus113.85
Thymus89.1
Thyroid134.45
Tongue157
Tonsil144.4
Trachea58.35
TrigeminalGanglion180.45
Uterus63.5
UterusCorpus31.45
WholeBlood109.65
Wholebrain115.8
colon52.05
pineal_day136.54
pineal_night127.82
retina139.45
small_intestine55.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6227_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
Amygdala4.07 ± 0.64
Basal Forebrain3.71 ± 0.57
Basal Part of Pons4.39 ± 0.54
Cerebellar Cortex4.36 ± 0.68
Cerebellar Nuclei4.21 ± 0.52
Claustrum4 ± 0.9
Epithalamus3.79 ± 0.64
Frontal Lobe4.33 ± 0.56
Globus Pallidus3.79 ± 0.39
Hypothalamus3.98 ± 0.59
Insula4.43 ± 0.37
Limbic Lobe3.98 ± 0.52
Mesencephalon4.11 ± 0.51
Myelencephalon4.18 ± 0.56
Occipital Lobe3.96 ± 0.52
Parietal Lobe4.07 ± 0.54
Pontine Tegmentum4.07 ± 0.56
Striatum4.03 ± 0.44
Subthalamus4.11 ± 0.49
Temporal Lobe4.23 ± 0.52
Thalamus4.36 ± 0.49
White Matter3.59 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap1b1CBCerebellum41.4
67.98
Ap1b1CTXCerebral cortex100
93.34
Ap1b1HIPHippocampal region77.03
90.02
Ap1b1HPFHippocampal formation86.76
87.02
Ap1b1HYHypothalamus84.01
64.88
Ap1b1LSXLateral septal complex85.31
54.57
Ap1b1MBMidbrain97.23
84.38
Ap1b1MYMedulla94.38
94.55
Ap1b1OLFOlfactory bulb96.88
81.17
Ap1b1PPons90.17
92.23
Ap1b1PALPallidum81.89
74.05
Ap1b1RHPRetrohippocampal region100
85.54
Ap1b1sAMYStriatum-like amygdalar nuclei89.84
66.72
Ap1b1STRStriatum82.26
53.43
Ap1b1STRdStriatum dorsal region82.62
53.17
Ap1b1STRvStriatum ventral region75.45
48.79
Ap1b1THThalamus100
87.79
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AP1B1_HUMAN_0 0 0 0 DIPNENEAQFQIR PRIDE
AP1B1_HUMAN_0 0 0 0 EYATEVDVDFVR PRIDE
AP1B1_HUMAN_0 0 0 0 KLAPPLVTLLSAEPELQYVALR PRIDE
AP1B1_HUMAN_0 0 0 0 LAPPLVTLLSAEPELQYVALR PRIDE
AP1B1_HUMAN_0 0 0 0 LASQANIAQVLAELK PRIDE
AP1B1_HUMAN_0 0 0 0 LVYLYLMNYAK PRIDE
AP1B1_HUMAN_0 0 0 0 VNYVVQEAIVVIK PRIDE
AP1B1_HUMAN_282 22 282 303 KLAPPLVTLLSAEPELQYVALR PRIDE
AP1B1_HUMAN_283 21 283 303 LAPPLVTLLSAEPELQYVALR PRIDE
AP1B1_HUMAN_344 15 344 358 LASQANIAQVLAELK PRIDE
AP1B1_HUMAN_402 17 402 418 VNYVVQEAIVVIKDIFR PRIDE
AP1B1_HUMAN_494 28 494 521 KPTETQELVQQVLSLATQDSDNPDLRDR PRIDE
AP1B1_HUMAN_93 10 93 102 DCEDPNPLIR PRIDE
PAp00000848 11 380 390 CAIKVEQSAER 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved