AutismKB 2.0

Annotation Detail for AP2B1


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Basic Information Top
Gene Symbol:AP2B1 ( ADTB2,AP105B,AP2-BETA,CLAPB1,DKFZp781K0743 )
Gene Full Name: adaptor-related protein complex 2, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:163; OMIM: 601025; Uniprot ID:AP2B1_HUMAN; ENSEMBL ID: ENSG00000006125; HGNC ID: 563
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 body19 / 70761268
blastocyst14 / 62319224
fetus195 / 564012345
neonate6 / 31097192
infant1 / 2362042
juvenile23 / 55556413
adult416 / 1939121214
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor30 / 94178318
cervical tumor7 / 34366203
chondrosarcoma22 / 82823265
colorectal tumor24 / 114246210
esophageal tumor0 / 172900 
gastrointestinal tumor25 / 119369209
germ cell tumor71 / 263845269
glioma17 / 106883159
head and neck tumor46 / 136302337
kidney tumor11 / 68959159
leukemia22 / 95842229
liver tumor20 / 96359207
lung tumor10 / 10312796
lymphoma9 / 71755125
non-neoplasia9 / 9725092
normal821 / 3360307244
ovarian tumor14 / 76682182
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer18 / 102680175
retinoblastoma13 / 46356280
skin tumor15 / 124949120
soft tissue/muscle tissue tumor25 / 125191199
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland7 / 33197210
ascites9 / 40015224
bladder7 / 29757235
blood22 / 123478178
bone14 / 71655195
bone marrow7 / 48801143
brain425 / 1100989386
cervix8 / 48171166
connective tissue19 / 149255127
ear0 / 162120 
embryonic tissue43 / 215722199
esophagus0 / 202090 
eye32 / 211054151
heart12 / 89626133
intestine39 / 234472166
kidney49 / 211777231
larynx3 / 24145124
liver27 / 207743129
lung55 / 336974163
lymph9 / 44270203
lymph node14 / 91610152
mammary gland49 / 153271319
mouth31 / 67052462
muscle34 / 107715315
nerve5 / 15768317
ovary15 / 102051146
pancreas16 / 21481274
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta20 / 28082571
prostate32 / 189345169
salivary gland3 / 20155148
skin29 / 210574137
spleen12 / 53952222
stomach23 / 96619238
testis369 / 3304421116
thymus18 / 81131221
thyroid14 / 47473294
tonsil0 / 169990 
trachea19 / 52413362
umbilical cord12 / 13680877
uterus48 / 232878206
vascular22 / 51780424
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200615_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts110.85
Adipocyte35.95
AdrenalCortex11
Adrenalgland10.1
Amygdala14.9
Appendix12
AtrioventricularNode9.05
BDCA4+_DentriticCells41.1
Bonemarrow12.25
BronchialEpithelialCells213.3
CD105+_Endothelial92.15
CD14+_Monocytes13.3
CD19+_BCells(neg._sel.)12.6
CD33+_Myeloid16.95
CD34+29.55
CD4+_Tcells13
CD56+_NKCells46.75
CD71+_EarlyErythroid143.25
CD8+_Tcells7.9
CardiacMyocytes51.95
Caudatenucleus11.6
Cerebellum12.15
CerebellumPeduncles13.6
CiliaryGanglion8.35
CingulateCortex12.5
Colorectaladenocarcinoma6.6
DorsalRootGanglion9.2
FetalThyroid11.55
Fetalbrain12.45
Fetalliver24
Fetallung10.45
GlobusPallidus8.8
Heart16.4
Hypothalamus14.85
Kidney15.6
Leukemia_chronicMyelogenousK-56230.95
Leukemia_promyelocytic-HL-6010.7
Leukemialymphoblastic(MOLT-4)9.55
Liver15.7
Lung11.2
Lymphnode6.3
Lymphoma_burkitts(Daudi)15.55
Lymphoma_burkitts(Raji)16.65
MedullaOblongata11.05
OccipitalLobe11.75
OlfactoryBulb10.3
Ovary8.1
Pancreas8.4
PancreaticIslet12.8
ParietalLobe16.35
Pituitary14.45
Placenta13.5
Pons11.2
PrefrontalCortex16.7
Prostate13.8
Salivarygland6.7
SkeletalMuscle13.5
Skin7.5
SmoothMuscle127.2
Spinalcord17.85
SubthalamicNucleus10.9
SuperiorCervicalGanglion13.4
TemporalLobe10.95
Testis322.05
TestisGermCell372.8
TestisIntersitial437.95
TestisLeydigCell284.25
TestisSeminiferousTubule190.9
Thalamus13.75
Thymus14
Thyroid14.55
Tongue11.65
Tonsil5.05
Trachea12.4
TrigeminalGanglion9.05
Uterus9.75
UterusCorpus10
WholeBlood13.35
Wholebrain11.95
colon12.4
pineal_day43.32
pineal_night49.82
retina15.975
small_intestine11.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4446_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
Amygdala6.14 ± 0.38
Basal Forebrain5.83 ± 0.19
Basal Part of Pons6.11 ± 0.39
Cerebellar Cortex5.71 ± 0.36
Cerebellar Nuclei5.89 ± 0.32
Claustrum6.38 ± 0.34
Epithalamus5.5 ± 0.47
Frontal Lobe6.04 ± 0.39
Globus Pallidus5.73 ± 0.39
Hypothalamus5.9 ± 0.29
Insula6.02 ± 0.35
Limbic Lobe6.18 ± 0.41
Mesencephalon5.97 ± 0.48
Myelencephalon5.92 ± 0.43
Occipital Lobe5.72 ± 0.5
Parietal Lobe5.97 ± 0.42
Pontine Tegmentum5.91 ± 0.4
Striatum5.72 ± 0.46
Subthalamus5.95 ± 0.53
Temporal Lobe6.08 ± 0.38
Thalamus5.88 ± 0.34
White Matter5.97 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap2b1CBCerebellum9.44
11.6
Ap2b1CTXCerebral cortex2.87
2.15
Ap2b1HIPHippocampal region15.73
10.55
Ap2b1HPFHippocampal formation13.07
8.81
Ap2b1HYHypothalamus3.26
2.7
Ap2b1LSXLateral septal complex3.97
2.47
Ap2b1MBMidbrain2.33
2.37
Ap2b1MYMedulla6.3
6.37
Ap2b1OLFOlfactory bulb5.91
4.52
Ap2b1PPons5.84
5.35
Ap2b1PALPallidum2.52
1.98
Ap2b1RHPRetrohippocampal region8.22
5.96
Ap2b1sAMYStriatum-like amygdalar nuclei2.11
1.91
Ap2b1STRStriatum1.94
1.41
Ap2b1STRdStriatum dorsal region1.8
1.36
Ap2b1STRvStriatum ventral region1.05
0.64
Ap2b1THThalamus2.86
2.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AP2B1_HUMAN_148 19 148 166 LHDINAQMVEDQGFLDSLR PRIDE
AP2B1_HUMAN_2 29 2 30 TDSKYFTTNKKGEIFELKAELNNEKKEKR PRIDE
AP2B1_HUMAN_282 22 282 303 KLAPPLVTLLSGEPEVQYVALR PRIDE
AP2B1_HUMAN_304 18 304 321 NINLIVQKRPEILKQEIK PRIDE
AP2B1_HUMAN_344 15 344 358 LASQANIAQVLAELK PRIDE
AP2B1_HUMAN_344 27 344 370 LASQANIAQVLAELKEYATEVDVDFVR PRIDE
AP2B1_HUMAN_344 28 344 371 LASQANIAQVLAELKEYATEVDVDFVRK PRIDE
AP2B1_HUMAN_391 12 391 402 CVSTLLDLIQTK PRIDE
AP2B1_HUMAN_746 14 746 759 ALQHMTDFAIQFNK PRIDE
AP2B1_HUMAN_79 15 79 93 SQPDMAIMAVNSFVK 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


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