AutismKB 2.0

Annotation Detail for AP4S1


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Basic Information Top
Gene Symbol:AP4S1 ( AP47B,CLA20,CLAPS4,FLJ32366 )
Gene Full Name: adaptor-related protein complex 4, sigma 1 subunit
Band: 14q12
Quick LinksEntrez ID:11154; OMIM: 607243; Uniprot ID:AP4S1_HUMAN; ENSEMBL ID: ENSG00000100478; HGNC ID: 575
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 body1 / 7076114
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal87 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain37 / 110098933
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus5 / 23287821
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210952_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte7.7
AdrenalCortex9.75
Adrenalgland7.1
Amygdala7.95
Appendix8.5
AtrioventricularNode5.75
BDCA4+_DentriticCells7.85
Bonemarrow8.9
BronchialEpithelialCells7.35
CD105+_Endothelial7.75
CD14+_Monocytes8.25
CD19+_BCells(neg._sel.)8.05
CD33+_Myeloid9.6
CD34+9.4
CD4+_Tcells8.05
CD56+_NKCells8.8
CD71+_EarlyErythroid7.3
CD8+_Tcells7.05
CardiacMyocytes11.85
Caudatenucleus10.3
Cerebellum6.6
CerebellumPeduncles9.4
CiliaryGanglion5.95
CingulateCortex8.25
Colorectaladenocarcinoma7.9
DorsalRootGanglion6.1
FetalThyroid8
Fetalbrain7.9
Fetalliver7.2
Fetallung5.95
GlobusPallidus5.8
Heart13.2
Hypothalamus8.2
Kidney7.2
Leukemia_chronicMyelogenousK-5627.05
Leukemia_promyelocytic-HL-606.85
Leukemialymphoblastic(MOLT-4)6.15
Liver12.85
Lung8.55
Lymphnode6.85
Lymphoma_burkitts(Daudi)11
Lymphoma_burkitts(Raji)12.3
MedullaOblongata7.15
OccipitalLobe7.05
OlfactoryBulb6.1
Ovary5.75
Pancreas6.25
PancreaticIslet8.3
ParietalLobe9.25
Pituitary9.85
Placenta7.8
Pons8.6
PrefrontalCortex9.5
Prostate9.1
Salivarygland6.4
SkeletalMuscle20.4
Skin6.4
SmoothMuscle8.6
Spinalcord9
SubthalamicNucleus7.45
SuperiorCervicalGanglion11.4
TemporalLobe7.65
Testis6.75
TestisGermCell6.25
TestisIntersitial6.4
TestisLeydigCell8.15
TestisSeminiferousTubule8.3
Thalamus8.3
Thymus5.95
Thyroid9.55
Tongue10.5
Tonsil7.9
Trachea6.55
TrigeminalGanglion9.5
Uterus6.3
UterusCorpus8.75
WholeBlood8.4
Wholebrain6.5
colon7.95
pineal_day9.6
pineal_night9.38
retina10.15
small_intestine7.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P12281
  • 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
Amygdala5.16 ± 0.71
Basal Forebrain5.11 ± 0.78
Basal Part of Pons5.34 ± 0.59
Cerebellar Cortex5.8 ± 0.21
Cerebellar Nuclei4.93 ± 0.64
Claustrum4.69 ± 0.94
Epithalamus5.26 ± 0.63
Frontal Lobe5.53 ± 0.51
Globus Pallidus4.47 ± 0.41
Hypothalamus5.22 ± 0.61
Insula5.59 ± 0.44
Limbic Lobe5.26 ± 0.65
Mesencephalon5.36 ± 0.72
Myelencephalon5.27 ± 0.56
Occipital Lobe4.87 ± 0.69
Parietal Lobe5.39 ± 0.53
Pontine Tegmentum5.18 ± 0.6
Striatum4.68 ± 0.66
Subthalamus5.54 ± 0.23
Temporal Lobe5.52 ± 0.45
Thalamus5.01 ± 0.55
White Matter4.61 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap4s1CBCerebellum57.65
100
Ap4s1CTXCerebral cortex100
100
Ap4s1HIPHippocampal region97.55
100
Ap4s1HPFHippocampal formation93.69
100
Ap4s1HYHypothalamus44.23
40.92
Ap4s1LSXLateral septal complex59.24
52.99
Ap4s1MBMidbrain58.13
64.61
Ap4s1MYMedulla44.88
51.81
Ap4s1OLFOlfactory bulb100
100
Ap4s1PPons29.2
31.03
Ap4s1PALPallidum60.19
63.95
Ap4s1RHPRetrohippocampal region88.13
79.64
Ap4s1sAMYStriatum-like amygdalar nuclei99.89
99.83
Ap4s1STRStriatum90.13
81.73
Ap4s1STRdStriatum dorsal region90.8
81.67
Ap4s1STRvStriatum ventral region100
84.56
Ap4s1THThalamus68.77
64.03
Peptide Top

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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