AutismKB 2.0

Annotation Detail for APP


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Basic Information Top
Gene Symbol:APP ( AAA,ABETA,ABPP,AD1,APPI,CTFgamma,CVAP,PN2 )
Gene Full Name: amyloid beta (A4) precursor protein
Band: 21q21.3
Quick LinksEntrez ID:351; OMIM: 104760; Uniprot ID:A4_HUMAN; ENSEMBL ID: ENSG00000142192; HGNC ID: 620
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 body53 / 70761749
blastocyst32 / 62319513
fetus200 / 564012354
neonate7 / 31097225
infant2 / 2362084
juvenile9 / 55556161
adult1138 / 1939121586
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma10 / 17475572
breast (mammary gland) tumor56 / 94178594
cervical tumor15 / 34366436
chondrosarcoma29 / 82823350
colorectal tumor128 / 1142461120
esophageal tumor2 / 17290115
gastrointestinal tumor44 / 119369368
germ cell tumor158 / 263845598
glioma33 / 106883308
head and neck tumor151 / 1363021107
kidney tumor37 / 68959536
leukemia17 / 95842177
liver tumor6 / 9635962
lung tumor22 / 103127213
lymphoma0 / 717550 
non-neoplasia35 / 97250359
normal1386 / 3360307412
ovarian tumor22 / 76682286
pancreatic tumor63 / 104616602
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer12 / 102680116
retinoblastoma5 / 46356107
skin tumor23 / 124949184
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor32 / 90257354
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland12 / 33197361
ascites12 / 40015299
bladder9 / 29757302
blood17 / 123478137
bone19 / 71655265
bone marrow1 / 4880120
brain823 / 1100989747
cervix15 / 48171311
connective tissue42 / 149255281
ear20 / 162121233
embryonic tissue109 / 215722505
esophagus2 / 2020998
eye93 / 211054440
heart21 / 89626234
intestine170 / 234472725
kidney86 / 211777406
larynx18 / 24145745
liver16 / 20774377
lung90 / 336974267
lymph0 / 442700 
lymph node2 / 9161021
mammary gland97 / 153271632
mouth43 / 67052641
muscle10 / 10771592
nerve7 / 15768443
ovary28 / 102051274
pancreas94 / 214812437
parathyroid5 / 20539243
pharynx11 / 41328266
pituitary gland12 / 16585723
placenta79 / 280825281
prostate31 / 189345163
salivary gland1 / 2015549
skin50 / 210574237
spleen3 / 5395255
stomach38 / 96619393
testis218 / 330442659
thymus15 / 81131184
thyroid86 / 474731811
tonsil0 / 169990 
trachea37 / 52413705
umbilical cord4 / 13680292
uterus75 / 232878322
vascular18 / 51780347
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200602_at
Cell line Expression level Expression bar
721_B_lymphoblasts26.5
Adipocyte104.2
AdrenalCortex286.55
Adrenalgland314.15
Amygdala1283.15
Appendix124.85
AtrioventricularNode54.25
BDCA4+_DentriticCells309.9
Bonemarrow57.9
BronchialEpithelialCells356.9
CD105+_Endothelial21.25
CD14+_Monocytes37.85
CD19+_BCells(neg._sel.)22.55
CD33+_Myeloid57.9
CD34+37.95
CD4+_Tcells16.55
CD56+_NKCells14.7
CD71+_EarlyErythroid8.65
CD8+_Tcells8.1
CardiacMyocytes145.15
Caudatenucleus551.95
Cerebellum355.5
CerebellumPeduncles298.5
CiliaryGanglion100.8
CingulateCortex761.25
Colorectaladenocarcinoma190.95
DorsalRootGanglion131.6
FetalThyroid311.15
Fetalbrain549.7
Fetalliver28.15
Fetallung321.45
GlobusPallidus278.35
Heart36.15
Hypothalamus995.65
Kidney251.75
Leukemia_chronicMyelogenousK-5627.7
Leukemia_promyelocytic-HL-607.65
Leukemialymphoblastic(MOLT-4)6.35
Liver42.65
Lung187.35
Lymphnode114.45
Lymphoma_burkitts(Daudi)12.05
Lymphoma_burkitts(Raji)14.85
MedullaOblongata586.35
OccipitalLobe693.2
OlfactoryBulb411.25
Ovary76.2
Pancreas308.1
PancreaticIslet510.8
ParietalLobe614
Pituitary332.65
Placenta272.8
Pons309.55
PrefrontalCortex1491.35
Prostate328.95
Salivarygland105.8
SkeletalMuscle20.6
Skin86.9
SmoothMuscle428.8
Spinalcord990.3
SubthalamicNucleus390.9
SuperiorCervicalGanglion142.35
TemporalLobe323.3
Testis186.95
TestisGermCell188.85
TestisIntersitial55.75
TestisLeydigCell65.4
TestisSeminiferousTubule103.7
Thalamus822.85
Thymus83.2
Thyroid1036.9
Tongue35.05
Tonsil24.3
Trachea207.4
TrigeminalGanglion97.45
Uterus281.45
UterusCorpus53.05
WholeBlood55.95
Wholebrain582.85
colon992.35
pineal_day642.22
pineal_night634.42
retina778.55
small_intestine852.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_84_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
Amygdala11.14 ± 0.37
Basal Forebrain10.66 ± 0.24
Basal Part of Pons10.83 ± 0.24
Cerebellar Cortex10.29 ± 0.3
Cerebellar Nuclei10.62 ± 0.52
Claustrum11.4 ± 0.58
Epithalamus10.05 ± 0.49
Frontal Lobe10.77 ± 0.43
Globus Pallidus10.81 ± 0.38
Hypothalamus10.31 ± 0.27
Insula10.65 ± 0.27
Limbic Lobe11.04 ± 0.42
Mesencephalon10.8 ± 0.43
Myelencephalon10.76 ± 0.52
Occipital Lobe10.81 ± 0.5
Parietal Lobe10.8 ± 0.47
Pontine Tegmentum10.64 ± 0.4
Striatum10.7 ± 0.5
Subthalamus10.58 ± 0.12
Temporal Lobe10.77 ± 0.36
Thalamus10.87 ± 0.33
White Matter11.63 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AppCBCerebellum50
50
AppCTXCerebral cortex50
50
AppHIPHippocampal region50
50
AppHPFHippocampal formation50
50
AppHYHypothalamus50
50
AppLSXLateral septal complex50
50
AppMBMidbrain50
50
AppMYMedulla50
50
AppOLFOlfactory bulb50
50
AppPPons50
50
AppPALPallidum50
50
AppRHPRetrohippocampal region50
50
AppsAMYStriatum-like amygdalar nuclei50
50
AppSTRStriatum50
50
AppSTRdStriatum dorsal region50
50
AppSTRvStriatum ventral region50
50
AppTHThalamus50
50
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
A4_HUMAN_451 10 451 460 QQLVETHMAR PRIDE
A4_HUMAN_489 7 489 495 HVFNMLK PRIDE
PAp00001193 18 117 134 CLVGEFVSDALLVPDKCK 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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