AutismKB 2.0

Annotation Detail for PSEN1


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Basic Information Top
Gene Symbol:PSEN1 ( AD3,FAD,PS1,S182 )
Gene Full Name: presenilin 1
Band: 14q24.2
Quick LinksEntrez ID:5663; OMIM: 104311; Uniprot ID:PSN1_HUMAN; ENSEMBL ID: ENSG00000080815; HGNC ID: 9508
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
blastocyst11 / 62319176
fetus56 / 56401299
neonate2 / 3109764
infant1 / 2362042
juvenile3 / 5555653
adult276 / 1939121142
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor91 / 114246796
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor24 / 26384590
glioma7 / 10688365
head and neck tumor52 / 136302381
kidney tumor9 / 68959130
leukemia16 / 95842166
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia8 / 9725082
normal366 / 3360307108
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor3 / 12494924
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites4 / 4001599
bladder2 / 2975767
blood21 / 123478170
bone5 / 7165569
bone marrow2 / 4880140
brain174 / 1100989158
cervix5 / 48171103
connective tissue19 / 149255127
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye13 / 21105461
heart2 / 8962622
intestine100 / 234472426
kidney20 / 21177794
larynx2 / 2414582
liver7 / 20774333
lung18 / 33697453
lymph1 / 4427022
lymph node9 / 9161098
mammary gland9 / 15327158
mouth46 / 67052686
muscle10 / 10771592
nerve0 / 157680 
ovary4 / 10205139
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta34 / 280825121
prostate11 / 18934558
salivary gland1 / 2015549
skin10 / 21057447
spleen9 / 53952166
stomach6 / 9661962
testis56 / 330442169
thymus11 / 81131135
thyroid8 / 47473168
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203460_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.3
Adipocyte8.95
AdrenalCortex6.6
Adrenalgland13
Amygdala35.35
Appendix5.3
AtrioventricularNode3.1
BDCA4+_DentriticCells83.4
Bonemarrow12.15
BronchialEpithelialCells28.7
CD105+_Endothelial8.4
CD14+_Monocytes81.8
CD19+_BCells(neg._sel.)16.25
CD33+_Myeloid77.05
CD34+17.3
CD4+_Tcells9.05
CD56+_NKCells36.6
CD71+_EarlyErythroid5.65
CD8+_Tcells7.7
CardiacMyocytes12.05
Caudatenucleus45.95
Cerebellum6.25
CerebellumPeduncles10.7
CiliaryGanglion3
CingulateCortex21.85
Colorectaladenocarcinoma11.05
DorsalRootGanglion2.9
FetalThyroid9.2
Fetalbrain10.65
Fetalliver6.9
Fetallung13.7
GlobusPallidus3.7
Heart6.5
Hypothalamus99.55
Kidney14.7
Leukemia_chronicMyelogenousK-5627
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)5.65
Liver8.5
Lung11.25
Lymphnode9.75
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)9.05
MedullaOblongata24.55
OccipitalLobe53
OlfactoryBulb20
Ovary5.55
Pancreas8.85
PancreaticIslet9.4
ParietalLobe46.75
Pituitary7.7
Placenta71.85
Pons14
PrefrontalCortex47.25
Prostate9.1
Salivarygland5.65
SkeletalMuscle5.8
Skin2.9
SmoothMuscle26.95
Spinalcord201.9
SubthalamicNucleus7.05
SuperiorCervicalGanglion7.7
TemporalLobe6
Testis46.9
TestisGermCell36.75
TestisIntersitial12.6
TestisLeydigCell12.5
TestisSeminiferousTubule14.45
Thalamus74.15
Thymus11.5
Thyroid23.4
Tongue6.35
Tonsil9.2
Trachea10.25
TrigeminalGanglion4.45
Uterus9.9
UterusCorpus5.9
WholeBlood157.95
Wholebrain12.4
colon36.4
pineal_day20.66
pineal_night27.06
retina111.35
small_intestine45.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P340728
  • 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
Amygdala5.08 ± 0.46
Basal Forebrain5.84 ± 0.39
Basal Part of Pons5.56 ± 0.4
Cerebellar Cortex5.24 ± 0.27
Cerebellar Nuclei6.47 ± 0.4
Claustrum5.26 ± 0.63
Epithalamus5.51 ± 0.57
Frontal Lobe5.48 ± 0.5
Globus Pallidus6.52 ± 0.38
Hypothalamus5.3 ± 0.4
Insula5.26 ± 0.27
Limbic Lobe5.38 ± 0.49
Mesencephalon5.59 ± 0.6
Myelencephalon5.54 ± 0.52
Occipital Lobe5.57 ± 0.51
Parietal Lobe5.39 ± 0.49
Pontine Tegmentum5.58 ± 0.53
Striatum5.88 ± 0.38
Subthalamus5.72 ± 0.37
Temporal Lobe5.39 ± 0.42
Thalamus5.73 ± 0.41
White Matter7.72 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Psen1CBCerebellum1.61
1.77
Psen1CTXCerebral cortex0.66
0.59
Psen1HIPHippocampal region2.99
1.98
Psen1HPFHippocampal formation2.12
1.37
Psen1HYHypothalamus0.61
0.46
Psen1LSXLateral septal complex0.65
0.51
Psen1MBMidbrain0.29
0.42
Psen1MYMedulla0.61
0.79
Psen1OLFOlfactory bulb1.23
1.12
Psen1PPons0.55
0.58
Psen1PALPallidum0.34
0.35
Psen1RHPRetrohippocampal region0.64
0.52
Psen1sAMYStriatum-like amygdalar nuclei0.29
0.39
Psen1STRStriatum0.24
0.19
Psen1STRdStriatum dorsal region0.14
0.12
Psen1STRvStriatum ventral region0.52
0.27
Psen1THThalamus0.29
0.29
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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