AutismKB 2.0

Annotation Detail for BACE2


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Basic Information Top
Gene Symbol:BACE2 ( AEPLC,ALP56,ASP1,ASP21,BAE2,CEAP1,DRAP )
Gene Full Name: beta-site APP-cleaving enzyme 2
Band: 21q22.2-q22.3
Quick LinksEntrez ID:25825; OMIM: 605668; Uniprot ID:BACE2_HUMAN; ENSEMBL ID: ENSG00000182240; HGNC ID: 934
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 body1 / 7076114
blastocyst1 / 6231916
fetus27 / 56401247
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult160 / 193912182
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor12 / 94178127
cervical tumor7 / 34366203
chondrosarcoma18 / 82823217
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor23 / 119369192
germ cell tumor19 / 26384572
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor7 / 10312767
lymphoma3 / 7175541
non-neoplasia9 / 9725092
normal149 / 336030744
ovarian tumor14 / 76682182
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer8 / 10268077
retinoblastoma1 / 4635621
skin tumor34 / 124949272
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites13 / 40015324
bladder2 / 2975767
blood0 / 1234780 
bone15 / 71655209
bone marrow2 / 4880140
brain9 / 11009898
cervix16 / 48171332
connective tissue15 / 149255100
ear3 / 16212185
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye10 / 21105447
heart15 / 89626167
intestine27 / 234472115
kidney22 / 211777103
larynx2 / 2414582
liver2 / 2077439
lung27 / 33697480
lymph2 / 4427045
lymph node1 / 9161010
mammary gland24 / 153271156
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary15 / 102051146
pancreas12 / 21481255
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta20 / 28082571
prostate13 / 18934568
salivary gland1 / 2015549
skin50 / 210574237
spleen2 / 5395237
stomach14 / 96619144
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217867_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.5
Adipocyte33.95
AdrenalCortex4.75
Adrenalgland3.9
Amygdala4.55
Appendix4.7
AtrioventricularNode4.4
BDCA4+_DentriticCells4.75
Bonemarrow4.55
BronchialEpithelialCells154.45
CD105+_Endothelial4.6
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)206.5
CD33+_Myeloid5.65
CD34+6
CD4+_Tcells4.85
CD56+_NKCells4.95
CD71+_EarlyErythroid21.3
CD8+_Tcells3.95
CardiacMyocytes6.15
Caudatenucleus4
Cerebellum3.6
CerebellumPeduncles5
CiliaryGanglion9.4
CingulateCortex4.55
Colorectaladenocarcinoma138.1
DorsalRootGanglion3.6
FetalThyroid9.2
Fetalbrain4.4
Fetalliver3.9
Fetallung4.55
GlobusPallidus3.25
Heart6.05
Hypothalamus4.6
Kidney5.6
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)52.7
Liver6.15
Lung60.15
Lymphnode4.8
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)8.6
MedullaOblongata3.9
OccipitalLobe3.9
OlfactoryBulb74.9
Ovary4.65
Pancreas85.3
PancreaticIslet153.6
ParietalLobe4.8
Pituitary5.3
Placenta153.15
Pons4.35
PrefrontalCortex5.3
Prostate321.9
Salivarygland70.6
SkeletalMuscle5.4
Skin3.8
SmoothMuscle111.85
Spinalcord4.8
SubthalamicNucleus4.1
SuperiorCervicalGanglion6.45
TemporalLobe4
Testis4
TestisGermCell6.8
TestisIntersitial5.9
TestisLeydigCell4.7
TestisSeminiferousTubule4.05
Thalamus4.5
Thymus3.9
Thyroid7.25
Tongue4.65
Tonsil5.1
Trachea49.45
TrigeminalGanglion4.7
Uterus90.05
UterusCorpus52.2
WholeBlood4.75
Wholebrain3.5
colon15.55
pineal_day5.36
pineal_night5.3
retina8.8
small_intestine7.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_105_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
Amygdala5.17 ± 0.48
Basal Forebrain6.11 ± 0.51
Basal Part of Pons5.99 ± 0.51
Cerebellar Cortex5.39 ± 0.44
Cerebellar Nuclei7.28 ± 0.53
Claustrum6.22 ± 0.51
Epithalamus6.25 ± 0.76
Frontal Lobe6 ± 0.58
Globus Pallidus7.67 ± 0.53
Hypothalamus5.36 ± 0.64
Insula5.7 ± 0.34
Limbic Lobe5.66 ± 0.66
Mesencephalon6.15 ± 0.82
Myelencephalon6.13 ± 0.64
Occipital Lobe6.56 ± 0.8
Parietal Lobe5.83 ± 0.61
Pontine Tegmentum6.27 ± 0.6
Striatum5.92 ± 0.71
Subthalamus6.62 ± 0.5
Temporal Lobe5.96 ± 0.57
Thalamus6.59 ± 0.49
White Matter8.22 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bace2CBCerebellum2.68
2.92
Bace2CTXCerebral cortex1.4
0.97
Bace2HIPHippocampal region5.71
4.64
Bace2HPFHippocampal formation5
3.96
Bace2HYHypothalamus0.76
0.58
Bace2LSXLateral septal complex1
0.83
Bace2MBMidbrain1.12
1.19
Bace2MYMedulla2.12
1.82
Bace2OLFOlfactory bulb5.66
4.95
Bace2PPons3.4
1.93
Bace2PALPallidum0.54
0.49
Bace2RHPRetrohippocampal region2.85
2.32
Bace2sAMYStriatum-like amygdalar nuclei0.47
0.31
Bace2STRStriatum0.93
0.82
Bace2STRdStriatum dorsal region0.77
0.82
Bace2STRvStriatum ventral region1.47
1.02
Bace2THThalamus1.79
1.59
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


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