AutismKB 2.0

Annotation Detail for AP2A2


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Basic Information Top
Gene Symbol:AP2A2 ( ADTAB,CLAPA2,HIP9,HYPJ )
Gene Full Name: adaptor-related protein complex 2, alpha 2 subunit
Band: 11p15.5
Quick LinksEntrez ID:161; OMIM: 607242; Uniprot ID:AP2A2_HUMAN; ENSEMBL ID: ENSG00000183020; HGNC ID: 562
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 body15 / 70761211
blastocyst8 / 62319128
fetus58 / 564012102
neonate0 / 310970 
infant4 / 23620169
juvenile6 / 55556107
adult170 / 193912187
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 tumor3 / 3436687
chondrosarcoma11 / 82823132
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor34 / 263845128
glioma17 / 106883159
head and neck tumor11 / 13630280
kidney tumor8 / 68959116
leukemia10 / 95842104
liver tumor8 / 9635983
lung tumor14 / 103127135
lymphoma6 / 7175583
non-neoplasia17 / 97250174
normal316 / 336030794
ovarian tumor2 / 7668226
pancreatic tumor26 / 104616248
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer11 / 102680107
retinoblastoma9 / 46356194
skin tumor11 / 12494988
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites4 / 4001599
bladder2 / 2975767
blood7 / 12347856
bone11 / 71655153
bone marrow0 / 488010 
brain180 / 1100989163
cervix5 / 48171103
connective tissue16 / 149255107
ear0 / 162120 
embryonic tissue26 / 215722120
esophagus0 / 202090 
eye33 / 211054156
heart5 / 8962655
intestine21 / 23447289
kidney18 / 21177784
larynx1 / 2414541
liver12 / 20774357
lung26 / 33697477
lymph3 / 4427067
lymph node8 / 9161087
mammary gland7 / 15327145
mouth5 / 6705274
muscle3 / 10771527
nerve4 / 15768253
ovary5 / 10205148
pancreas28 / 214812130
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta23 / 28082581
prostate21 / 189345110
salivary gland1 / 2015549
skin13 / 21057461
spleen6 / 53952111
stomach18 / 96619186
testis58 / 330442175
thymus7 / 8113186
thyroid3 / 4747363
tonsil2 / 16999117
trachea2 / 5241338
umbilical cord0 / 136800 
uterus15 / 23287864
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212161_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte4.15
AdrenalCortex4.4
Adrenalgland3.6
Amygdala34.45
Appendix4.3
AtrioventricularNode3.4
BDCA4+_DentriticCells5.25
Bonemarrow4.15
BronchialEpithelialCells4.25
CD105+_Endothelial5.5
CD14+_Monocytes4.6
CD19+_BCells(neg._sel.)4.65
CD33+_Myeloid6.45
CD34+5.55
CD4+_Tcells12.35
CD56+_NKCells5.35
CD71+_EarlyErythroid4.05
CD8+_Tcells9.65
CardiacMyocytes7.5
Caudatenucleus4.1
Cerebellum9.7
CerebellumPeduncles17.15
CiliaryGanglion3.85
CingulateCortex5.15
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.2
FetalThyroid4.2
Fetalbrain21.7
Fetalliver3.5
Fetallung3.4
GlobusPallidus3.15
Heart5.3
Hypothalamus10.3
Kidney3.4
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.25
Liver6.4
Lung15.7
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)5.95
MedullaOblongata3.95
OccipitalLobe4.2
OlfactoryBulb3.35
Ovary2.8
Pancreas3.45
PancreaticIslet4.55
ParietalLobe4.65
Pituitary4.95
Placenta4.5
Pons4.05
PrefrontalCortex13
Prostate5.15
Salivarygland3.4
SkeletalMuscle4.8
Skin3.8
SmoothMuscle4.9
Spinalcord4.65
SubthalamicNucleus3.9
SuperiorCervicalGanglion4.7
TemporalLobe3.95
Testis3.7
TestisGermCell3.6
TestisIntersitial3.35
TestisLeydigCell4.25
TestisSeminiferousTubule3.65
Thalamus4.2
Thymus3.6
Thyroid5.45
Tongue4.05
Tonsil3.95
Trachea3.45
TrigeminalGanglion4.2
Uterus3.7
UterusCorpus3.85
WholeBlood4.5
Wholebrain39.55
colon4.3
pineal_day36.66
pineal_night18.96
retina5.575
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P339974
  • 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
Amygdala6.51 ± 0.36
Basal Forebrain6.23 ± 0.29
Basal Part of Pons6.68 ± 0.16
Cerebellar Cortex6.71 ± 0.19
Cerebellar Nuclei6.04 ± 0.56
Claustrum6.81 ± 0.35
Epithalamus6.02 ± 0.53
Frontal Lobe6.53 ± 0.35
Globus Pallidus5.07 ± 0.45
Hypothalamus6.48 ± 0.43
Insula6.68 ± 0.27
Limbic Lobe6.67 ± 0.36
Mesencephalon6.21 ± 0.46
Myelencephalon6.36 ± 0.54
Occipital Lobe6.15 ± 0.4
Parietal Lobe6.36 ± 0.39
Pontine Tegmentum6.38 ± 0.67
Striatum5.78 ± 0.43
Subthalamus6.16 ± 0.18
Temporal Lobe6.58 ± 0.4
Thalamus6.21 ± 0.49
White Matter5.37 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap2a2CBCerebellum61.57
100
Ap2a2CTXCerebral cortex100
100
Ap2a2HIPHippocampal region100
100
Ap2a2HPFHippocampal formation100
100
Ap2a2HYHypothalamus100
100
Ap2a2LSXLateral septal complex100
100
Ap2a2MBMidbrain100
100
Ap2a2MYMedulla83.36
100
Ap2a2OLFOlfactory bulb100
100
Ap2a2PPons82.72
100
Ap2a2PALPallidum93.7
100
Ap2a2RHPRetrohippocampal region100
100
Ap2a2sAMYStriatum-like amygdalar nuclei100
100
Ap2a2STRStriatum100
100
Ap2a2STRdStriatum dorsal region100
100
Ap2a2STRvStriatum ventral region100
100
Ap2a2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AP2A2_HUMAN_0 0 0 0 FVNLFPEVKPTIQDVLR PRIDE
AP2A2_HUMAN_0 0 0 0 GLAVFISDIR PRIDE
AP2A2_HUMAN_0 0 0 0 TSVSLAVSR PRIDE
AP2A2_HUMAN_0 0 0 0 VGGYILGEFGNLIAGDPR PRIDE
AP2A2_HUMAN_0 0 0 0 VIQIVINRDDVQGYAAK PRIDE
AP2A2_HUMAN_0 0 0 0 VLVAGDTMDSVK PRIDE
AP2A2_HUMAN_2 10 2 11 PAVSKGDGMR PRIDE
AP2A2_HUMAN_546 17 546 562 FVNLFPEVKPTIQDVLR PRIDE
AP2A2_HUMAN_826 15 826 840 FFQPTEMASQDFFQR PRIDE
PAp00009182 12 329 340 ACNQLGQFLQHR 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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