AutismKB 2.0

Annotation Detail for APBB2


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Basic Information Top
Gene Symbol:APBB2 ( DKFZp434E033,FE65L,FE65L1,MGC35575 )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family B, member 2
Band: 4p14-p13
Quick LinksEntrez ID:323; OMIM: 602710; Uniprot ID:APBB2_HUMAN; ENSEMBL ID: ENSG00000163697; HGNC ID: 582
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 body7 / 7076198
blastocyst4 / 6231964
fetus47 / 56401283
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult122 / 193912162
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor10 / 26384537
glioma14 / 106883130
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia11 / 97250113
normal230 / 336030768
ovarian tumor0 / 766820 
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone8 / 71655111
bone marrow1 / 4880120
brain85 / 110098977
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye18 / 21105485
heart7 / 8962678
intestine8 / 23447234
kidney8 / 21177737
larynx1 / 2414541
liver4 / 20774319
lung26 / 33697477
lymph0 / 442700 
lymph node2 / 9161021
mammary gland8 / 15327152
mouth1 / 6705214
muscle5 / 10771546
nerve2 / 15768126
ovary2 / 10205119
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta22 / 28082578
prostate10 / 18934552
salivary gland0 / 201550 
skin5 / 21057423
spleen2 / 5395237
stomach1 / 9661910
testis14 / 33044242
thymus3 / 8113136
thyroid7 / 47473147
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord3 / 13680219
uterus12 / 23287851
vascular3 / 5178057
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213419_at
Cell line Expression level Expression bar
721_B_lymphoblasts11
Adipocyte5.55
AdrenalCortex4.8
Adrenalgland3.8
Amygdala4.9
Appendix4.55
AtrioventricularNode4.3
BDCA4+_DentriticCells4.65
Bonemarrow4.5
BronchialEpithelialCells4.55
CD105+_Endothelial4.6
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.6
CD34+5.45
CD4+_Tcells4.65
CD56+_NKCells5.25
CD71+_EarlyErythroid4.2
CD8+_Tcells4.4
CardiacMyocytes9.2
Caudatenucleus4.1
Cerebellum3.7
CerebellumPeduncles5.2
CiliaryGanglion3.4
CingulateCortex4.65
Colorectaladenocarcinoma5.25
DorsalRootGanglion3.8
FetalThyroid4.7
Fetalbrain4.55
Fetalliver3.95
Fetallung3.85
GlobusPallidus3.4
Heart6.25
Hypothalamus5.15
Kidney3.9
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.65
Liver6.3
Lung5.05
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.95
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4.2
OccipitalLobe4.15
OlfactoryBulb3.6
Ovary3.1
Pancreas3.65
PancreaticIslet25.9
ParietalLobe5.05
Pituitary5.3
Placenta14.35
Pons4.3
PrefrontalCortex5.75
Prostate5.35
Salivarygland3.7
SkeletalMuscle5.45
Skin3.75
SmoothMuscle16.95
Spinalcord4.9
SubthalamicNucleus4.1
SuperiorCervicalGanglion5.5
TemporalLobe4.15
Testis3.95
TestisGermCell3.85
TestisIntersitial3.8
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus4.75
Thymus3.55
Thyroid8.75
Tongue4.45
Tonsil4.45
Trachea3.8
TrigeminalGanglion4.6
Uterus3.75
UterusCorpus4.1
WholeBlood4.9
Wholebrain4.15
colon4.6
pineal_day5.62
pineal_night5.52
retina5.475
small_intestine4.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P234701
  • 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
Amygdala4.66 ± 0.62
Basal Forebrain5.18 ± 0.34
Basal Part of Pons5.09 ± 0.45
Cerebellar Cortex4.6 ± 0.41
Cerebellar Nuclei5.66 ± 0.68
Claustrum4.22 ± 0.75
Epithalamus4.74 ± 0.73
Frontal Lobe5.1 ± 0.54
Globus Pallidus5.83 ± 0.38
Hypothalamus4.84 ± 0.4
Insula4.96 ± 0.34
Limbic Lobe4.75 ± 0.5
Mesencephalon5.01 ± 0.66
Myelencephalon5.06 ± 0.54
Occipital Lobe4.9 ± 0.59
Parietal Lobe5.07 ± 0.47
Pontine Tegmentum5.15 ± 0.5
Striatum5.42 ± 0.29
Subthalamus5.29 ± 0.41
Temporal Lobe4.95 ± 0.41
Thalamus5.38 ± 0.5
White Matter6.73 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Apbb2CBCerebellum21.68
47.51
Apbb2CTXCerebral cortex36.47
31.37
Apbb2HIPHippocampal region20.97
29.59
Apbb2HPFHippocampal formation21.37
24.33
Apbb2HYHypothalamus7.55
6.59
Apbb2LSXLateral septal complex15.79
13.52
Apbb2MBMidbrain15.35
17.61
Apbb2MYMedulla36.17
53.29
Apbb2OLFOlfactory bulb30.49
32.58
Apbb2PPons28.38
39.85
Apbb2PALPallidum11.66
12.34
Apbb2RHPRetrohippocampal region22.82
18.81
Apbb2sAMYStriatum-like amygdalar nuclei8.73
6.82
Apbb2STRStriatum11.04
8.03
Apbb2STRdStriatum dorsal region11.36
8.09
Apbb2STRvStriatum ventral region10.14
7.03
Apbb2THThalamus60.17
67.48
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