AutismKB 2.0

Annotation Detail for PSEN2


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Basic Information Top
Gene Symbol:PSEN2 ( AD3L,AD4,PS2,STM2 )
Gene Full Name: presenilin 2 (Alzheimer disease 4)
Band: 1q42.13
Quick LinksEntrez ID:5664; OMIM: 600759; Uniprot ID:PSN2_HUMAN; ENSEMBL ID: ENSG00000143801; HGNC ID: 9509
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 body3 / 7076142
blastocyst0 / 623190 
fetus31 / 56401254
neonate4 / 31097128
infant0 / 236200 
juvenile3 / 5555653
adult106 / 193912154
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) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor20 / 26384575
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal178 / 336030752
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer22 / 102680214
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow0 / 488010 
brain41 / 110098937
cervix3 / 4817162
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye7 / 21105433
heart6 / 8962666
intestine6 / 23447225
kidney11 / 21177751
larynx0 / 241450 
liver3 / 20774314
lung18 / 33697453
lymph1 / 4427022
lymph node3 / 9161032
mammary gland11 / 15327171
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary4 / 10205139
pancreas6 / 21481227
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta8 / 28082528
prostate34 / 189345179
salivary gland0 / 201550 
skin8 / 21057437
spleen11 / 53952203
stomach1 / 9661910
testis16 / 33044248
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204261_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte7.85
AdrenalCortex10.4
Adrenalgland7.35
Amygdala8.1
Appendix9.85
AtrioventricularNode9.1
BDCA4+_DentriticCells7.85
Bonemarrow8.8
BronchialEpithelialCells7.65
CD105+_Endothelial8.1
CD14+_Monocytes8.7
CD19+_BCells(neg._sel.)8.5
CD33+_Myeloid10.2
CD34+9.6
CD4+_Tcells8.35
CD56+_NKCells8.75
CD71+_EarlyErythroid7.8
CD8+_Tcells7.15
CardiacMyocytes22.45
Caudatenucleus7.25
Cerebellum6.8
CerebellumPeduncles11.4
CiliaryGanglion7.15
CingulateCortex8.6
Colorectaladenocarcinoma8.8
DorsalRootGanglion7.2
FetalThyroid8
Fetalbrain7.8
Fetalliver7.3
Fetallung6.1
GlobusPallidus6.6
Heart17.45
Hypothalamus8.55
Kidney7.35
Leukemia_chronicMyelogenousK-5627.3
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)6.35
Liver13.8
Lung8.75
Lymphnode6.75
Lymphoma_burkitts(Daudi)11.25
Lymphoma_burkitts(Raji)14
MedullaOblongata7.25
OccipitalLobe7.1
OlfactoryBulb6.35
Ovary6.2
Pancreas6.85
PancreaticIslet8.9
ParietalLobe9.05
Pituitary9.65
Placenta7.95
Pons9.65
PrefrontalCortex9.65
Prostate9.3
Salivarygland7.1
SkeletalMuscle12.05
Skin7.35
SmoothMuscle9.05
Spinalcord8.65
SubthalamicNucleus7.8
SuperiorCervicalGanglion12.05
TemporalLobe7.75
Testis6.9
TestisGermCell6.1
TestisIntersitial6.95
TestisLeydigCell8.4
TestisSeminiferousTubule6.9
Thalamus8.5
Thymus6.15
Thyroid9.7
Tongue9.25
Tonsil8.4
Trachea6.75
TrigeminalGanglion9.95
Uterus6.35
UterusCorpus8.2
WholeBlood8.7
Wholebrain6.45
colon8.3
pineal_day9.96
pineal_night9.62
retina11.85
small_intestine8.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P96985
  • 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
Amygdala3.21 ± 0.63
Basal Forebrain2.63 ± 0.48
Basal Part of Pons3.04 ± 0.79
Cerebellar Cortex3.78 ± 0.35
Cerebellar Nuclei3.02 ± 0.77
Claustrum3.19 ± 0.66
Epithalamus3.02 ± 0.65
Frontal Lobe3.24 ± 0.6
Globus Pallidus2.59 ± 0.7
Hypothalamus2.93 ± 0.79
Insula3.36 ± 0.49
Limbic Lobe3.05 ± 0.57
Mesencephalon3.32 ± 0.61
Myelencephalon3.14 ± 0.66
Occipital Lobe3.19 ± 0.54
Parietal Lobe3.02 ± 0.63
Pontine Tegmentum3.19 ± 0.69
Striatum2.72 ± 0.85
Subthalamus3.15 ± 0.86
Temporal Lobe3.1 ± 0.72
Thalamus3.32 ± 0.59
White Matter1.79 ± 0.84
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00130952 19 149 167 NGQLIYTPFTEDTPSVGQR 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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