AutismKB 2.0

Annotation Detail for PCSK2


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Basic Information Top
Gene Symbol:PCSK2 ( NEC2,PC2,SPC2 )
Gene Full Name: proprotein convertase subtilisin/kexin type 2
Band: 20p12.1
Quick LinksEntrez ID:5126; OMIM: 162151; Uniprot ID:NEC2_HUMAN; ENSEMBL ID: ENSG00000125851; HGNC ID: 8744
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 
fetus85 / 564012150
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult57 / 193912129
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor10 / 68959145
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal336 / 336030799
ovarian tumor0 / 766820 
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor4 / 12494932
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 gland4 / 33197120
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain236 / 1100989214
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye14 / 21105466
heart3 / 8962633
intestine1 / 2344724
kidney10 / 21177747
larynx0 / 241450 
liver0 / 2077430 
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas71 / 214812330
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate7 / 18934536
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach0 / 966190 
testis12 / 33044236
thymus0 / 811310 
thyroid9 / 47473189
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204870_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.7
Adipocyte4.6
AdrenalCortex5.55
Adrenalgland4.1
Amygdala79.75
Appendix4.9
AtrioventricularNode3.95
BDCA4+_DentriticCells4.85
Bonemarrow4.75
BronchialEpithelialCells4.55
CD105+_Endothelial4.8
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.8
CD34+5.65
CD4+_Tcells5.05
CD56+_NKCells5.65
CD71+_EarlyErythroid4.4
CD8+_Tcells4.5
CardiacMyocytes6.1
Caudatenucleus18.75
Cerebellum9.2
CerebellumPeduncles8.9
CiliaryGanglion3.85
CingulateCortex32.5
Colorectaladenocarcinoma4.65
DorsalRootGanglion9
FetalThyroid541.2
Fetalbrain53.05
Fetalliver4.1
Fetallung3.75
GlobusPallidus25.75
Heart6.2
Hypothalamus7.25
Kidney3.9
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-604.2
Leukemialymphoblastic(MOLT-4)3.8
Liver6.45
Lung5.6
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.2
Lymphoma_burkitts(Raji)6.7
MedullaOblongata37.35
OccipitalLobe76.85
OlfactoryBulb3.75
Ovary3.9
Pancreas3.9
PancreaticIslet172.55
ParietalLobe39.55
Pituitary5.5
Placenta4.75
Pons27.8
PrefrontalCortex165.95
Prostate5.5
Salivarygland3.8
SkeletalMuscle5.65
Skin3.7
SmoothMuscle5.4
Spinalcord5.1
SubthalamicNucleus47.85
SuperiorCervicalGanglion5.65
TemporalLobe39.15
Testis10.55
TestisGermCell15.6
TestisIntersitial4.7
TestisLeydigCell4.75
TestisSeminiferousTubule4.4
Thalamus35.85
Thymus3.7
Thyroid26.9
Tongue4.7
Tonsil4.65
Trachea3.9
TrigeminalGanglion4.9
Uterus3.8
UterusCorpus4.3
WholeBlood5.05
Wholebrain74.2
colon4.65
pineal_day639.9
pineal_night885.74
retina58.25
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13562_PI416261804
  • 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
Amygdala5.56 ± 0.4
Basal Forebrain5.06 ± 0.66
Basal Part of Pons4.99 ± 0.49
Cerebellar Cortex5.25 ± 0.26
Cerebellar Nuclei4.96 ± 0.48
Claustrum6.09 ± 0.63
Epithalamus4.74 ± 1.11
Frontal Lobe5.3 ± 0.5
Globus Pallidus3.06 ± 0.97
Hypothalamus4.76 ± 0.59
Insula5.16 ± 0.41
Limbic Lobe5.39 ± 0.64
Mesencephalon4.98 ± 0.7
Myelencephalon5.08 ± 0.61
Occipital Lobe4.92 ± 0.56
Parietal Lobe5.13 ± 0.48
Pontine Tegmentum5.09 ± 0.66
Striatum5.25 ± 0.45
Subthalamus4.6 ± 0.27
Temporal Lobe5.36 ± 0.52
Thalamus4.89 ± 0.49
White Matter3.38 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcsk2CBCerebellum51.37
74.36
Pcsk2CTXCerebral cortex100
100
Pcsk2HIPHippocampal region100
100
Pcsk2HPFHippocampal formation100
100
Pcsk2HYHypothalamus92.64
100
Pcsk2LSXLateral septal complex92.47
95.83
Pcsk2MBMidbrain100
100
Pcsk2MYMedulla79.37
100
Pcsk2OLFOlfactory bulb100
100
Pcsk2PPons73.23
97.67
Pcsk2PALPallidum54.52
68.22
Pcsk2RHPRetrohippocampal region100
100
Pcsk2sAMYStriatum-like amygdalar nuclei98.37
100
Pcsk2STRStriatum100
100
Pcsk2STRdStriatum dorsal region100
100
Pcsk2STRvStriatum ventral region100
100
Pcsk2THThalamus100
100
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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