AutismKB 2.0

Annotation Detail for APBA1


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Basic Information Top
Gene Symbol:APBA1 ( D9S411E,MINT1,X11,X11A,X11ALPHA )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family A, member 1
Band: 9q21.12
Quick LinksEntrez ID:320; OMIM: 602414; Uniprot ID:APBA1_HUMAN; ENSEMBL ID: ENSG00000107282; HGNC ID: 578
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 body0 / 707610 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant3 / 23620127
juvenile3 / 5555653
adult25 / 193912112
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal57 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
brain32 / 110098929
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye7 / 21105433
heart0 / 896260 
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth2 / 6705229
muscle1 / 1077159
nerve3 / 15768190
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206679_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.25
Adipocyte8.65
AdrenalCortex9
Adrenalgland8.9
Amygdala8.85
Appendix8.8
AtrioventricularNode9.25
BDCA4+_DentriticCells9.15
Bonemarrow8.65
BronchialEpithelialCells8.65
CD105+_Endothelial8.75
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)8.9
CD33+_Myeloid11.3
CD34+10.25
CD4+_Tcells9.45
CD56+_NKCells10
CD71+_EarlyErythroid8.2
CD8+_Tcells7.75
CardiacMyocytes11.05
Caudatenucleus12.05
Cerebellum14.2
CerebellumPeduncles14.8
CiliaryGanglion14
CingulateCortex8.85
Colorectaladenocarcinoma8.6
DorsalRootGanglion17.85
FetalThyroid8.5
Fetalbrain10.7
Fetalliver7.5
Fetallung7.4
GlobusPallidus11.5
Heart11
Hypothalamus9.75
Kidney8.7
Leukemia_chronicMyelogenousK-5628
Leukemia_promyelocytic-HL-609.4
Leukemialymphoblastic(MOLT-4)7.05
Liver11.85
Lung9.15
Lymphnode7.65
Lymphoma_burkitts(Daudi)11.15
Lymphoma_burkitts(Raji)12
MedullaOblongata10.2
OccipitalLobe8.3
OlfactoryBulb15.95
Ovary5.75
Pancreas7.1
PancreaticIslet9.35
ParietalLobe9.15
Pituitary10.25
Placenta8.5
Pons9.25
PrefrontalCortex11.6
Prostate10.35
Salivarygland7.55
SkeletalMuscle9.8
Skin7.65
SmoothMuscle9.95
Spinalcord9.2
SubthalamicNucleus9.2
SuperiorCervicalGanglion14
TemporalLobe8.85
Testis7.4
TestisGermCell7.35
TestisIntersitial7.2
TestisLeydigCell8.6
TestisSeminiferousTubule7.45
Thalamus8.8
Thymus6.5
Thyroid10.4
Tongue8.6
Tonsil8.5
Trachea7.2
TrigeminalGanglion8.55
Uterus6.75
UterusCorpus7.9
WholeBlood9.35
Wholebrain8
colon8.7
pineal_day10.34
pineal_night10.32
retina9.75
small_intestine8.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_79_PI416408490
  • 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
Amygdala5.94 ± 0.62
Basal Forebrain5.3 ± 0.48
Basal Part of Pons5.39 ± 0.5
Cerebellar Cortex5.15 ± 0.46
Cerebellar Nuclei4.79 ± 0.45
Claustrum5.71 ± 0.87
Epithalamus4.29 ± 0.77
Frontal Lobe5.11 ± 0.6
Globus Pallidus4.14 ± 0.78
Hypothalamus4.53 ± 0.8
Insula5.4 ± 0.4
Limbic Lobe5.72 ± 0.71
Mesencephalon5.46 ± 0.71
Myelencephalon5.34 ± 0.66
Occipital Lobe5.38 ± 0.62
Parietal Lobe5.33 ± 0.65
Pontine Tegmentum5.04 ± 0.76
Striatum5.54 ± 0.57
Subthalamus4.96 ± 0.11
Temporal Lobe5.51 ± 0.56
Thalamus5.41 ± 0.71
White Matter3.45 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Apba1CBCerebellum21.46
31.53
Apba1CTXCerebral cortex38.75
31.92
Apba1HIPHippocampal region26.83
36.37
Apba1HPFHippocampal formation33.38
38.39
Apba1HYHypothalamus22.62
21.72
Apba1LSXLateral septal complex4.01
3.31
Apba1MBMidbrain29.95
35.68
Apba1MYMedulla33.38
50.98
Apba1OLFOlfactory bulb37.39
40.37
Apba1PPons38.49
56.37
Apba1PALPallidum14.86
17.19
Apba1RHPRetrohippocampal region43.59
41.21
Apba1sAMYStriatum-like amygdalar nuclei23.89
19.79
Apba1STRStriatum7.33
6.59
Apba1STRdStriatum dorsal region5
4.93
Apba1STRvStriatum ventral region5.96
5.01
Apba1THThalamus39.64
40.91
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