AutismKB 2.0

Annotation Detail for AP1S2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AP1S2 ( MGC:1902,MRX59,SIGMA1B )
Gene Full Name: adaptor-related protein complex 1, sigma 2 subunit
Band: Xp22.2
Quick LinksEntrez ID:8905; OMIM: 300629; Uniprot ID:AP1S2_HUMAN; ENSEMBL ID: ENSG00000182287; HGNC ID: 560
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 body9 / 70761127
blastocyst12 / 62319192
fetus79 / 564012140
neonate9 / 31097289
infant4 / 23620169
juvenile7 / 55556125
adult151 / 193912177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor58 / 263845219
glioma12 / 106883112
head and neck tumor1 / 1363027
kidney tumor6 / 6895987
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia21 / 97250215
normal382 / 3360307113
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor18 / 124949144
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder0 / 297570 
blood11 / 12347889
bone3 / 7165541
bone marrow2 / 4880140
brain187 / 1100989169
cervix6 / 48171124
connective tissue25 / 149255167
ear3 / 16212185
embryonic tissue33 / 215722152
esophagus1 / 2020949
eye11 / 21105452
heart20 / 89626223
intestine18 / 23447276
kidney19 / 21177789
larynx0 / 241450 
liver0 / 2077430 
lung24 / 33697471
lymph0 / 442700 
lymph node13 / 91610141
mammary gland4 / 15327126
mouth0 / 670520 
muscle13 / 107715120
nerve1 / 1576863
ovary1 / 1020519
pancreas7 / 21481232
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate3 / 18934515
salivary gland0 / 201550 
skin50 / 210574237
spleen4 / 5395274
stomach5 / 9661951
testis42 / 330442127
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus29 / 232878124
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203299_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.4
Adipocyte6.55
AdrenalCortex8.65
Adrenalgland7.2
Amygdala14.55
Appendix10
AtrioventricularNode10.2
BDCA4+_DentriticCells23.4
Bonemarrow8.5
BronchialEpithelialCells7.05
CD105+_Endothelial7
CD14+_Monocytes71.8
CD19+_BCells(neg._sel.)9.2
CD33+_Myeloid83.85
CD34+10.55
CD4+_Tcells8.95
CD56+_NKCells10.1
CD71+_EarlyErythroid7.75
CD8+_Tcells8
CardiacMyocytes10.95
Caudatenucleus7.7
Cerebellum13.45
CerebellumPeduncles9.65
CiliaryGanglion5.45
CingulateCortex9.25
Colorectaladenocarcinoma8.3
DorsalRootGanglion6.6
FetalThyroid7.85
Fetalbrain13.6
Fetalliver7.45
Fetallung6.7
GlobusPallidus6.2
Heart10.9
Hypothalamus10.2
Kidney7
Leukemia_chronicMyelogenousK-5627.65
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)6.75
Liver11.35
Lung8.3
Lymphnode7.15
Lymphoma_burkitts(Daudi)10.8
Lymphoma_burkitts(Raji)11.6
MedullaOblongata16.55
OccipitalLobe7.6
OlfactoryBulb9.45
Ovary6
Pancreas5.85
PancreaticIslet8.05
ParietalLobe9.05
Pituitary9.45
Placenta7.35
Pons10.05
PrefrontalCortex10.95
Prostate8.35
Salivarygland7.7
SkeletalMuscle18.65
Skin6
SmoothMuscle8.05
Spinalcord10.35
SubthalamicNucleus6.8
SuperiorCervicalGanglion11.3
TemporalLobe8.35
Testis6.8
TestisGermCell9
TestisIntersitial7.1
TestisLeydigCell8.4
TestisSeminiferousTubule7.2
Thalamus8.4
Thymus6.55
Thyroid9.65
Tongue8.7
Tonsil8.1
Trachea7.05
TrigeminalGanglion8.6
Uterus19.8
UterusCorpus13.5
WholeBlood45.55
Wholebrain7.05
colon19.35
pineal_day8.94
pineal_night10.06
retina12.3
small_intestine8.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P217384
  • 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
Amygdala8.3 ± 0.61
Basal Forebrain8.01 ± 0.38
Basal Part of Pons8.94 ± 0.19
Cerebellar Cortex8.38 ± 0.43
Cerebellar Nuclei8.83 ± 0.33
Claustrum7.95 ± 0.64
Epithalamus8.26 ± 0.59
Frontal Lobe8.16 ± 0.53
Globus Pallidus7.1 ± 0.59
Hypothalamus9.18 ± 0.39
Insula8.04 ± 0.32
Limbic Lobe7.62 ± 0.68
Mesencephalon7.97 ± 0.64
Myelencephalon8 ± 0.75
Occipital Lobe7.39 ± 0.88
Parietal Lobe8.15 ± 0.54
Pontine Tegmentum8.1 ± 0.48
Striatum7.79 ± 0.65
Subthalamus9.23 ± 0.38
Temporal Lobe8.15 ± 0.52
Thalamus7.43 ± 0.63
White Matter7.53 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap1s2CBCerebellum1.09
2.18
Ap1s2CTXCerebral cortex1.5
2.14
Ap1s2HIPHippocampal region2.04
3.6
Ap1s2HPFHippocampal formation1.45
2.38
Ap1s2HYHypothalamus0.17
0.17
Ap1s2LSXLateral septal complex0.4
0.37
Ap1s2MBMidbrain0.64
1.15
Ap1s2MYMedulla0.94
1.2
Ap1s2OLFOlfactory bulb0.69
0.71
Ap1s2PPons0.28
0.36
Ap1s2PALPallidum0.4
0.84
Ap1s2RHPRetrohippocampal region0.56
0.81
Ap1s2sAMYStriatum-like amygdalar nuclei0.73
1.11
Ap1s2STRStriatum0.3
0.38
Ap1s2STRdStriatum dorsal region0.23
0.3
Ap1s2STRvStriatum ventral region0.31
0.33
Ap1s2THThalamus0.5
0.6
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AP1S2_HUMAN_34 8 34 41 LVQTVLAR PRIDE

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