AutismKB 2.0

Annotation Detail for PCSK1


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Basic Information Top
Gene Symbol:PCSK1 ( BMIQ12,NEC1,PC1,PC3,SPC3 )
Gene Full Name: proprotein convertase subtilisin/kexin type 1
Band: 5q15
Quick LinksEntrez ID:5122; OMIM: 162150; Uniprot ID:NEC1_HUMAN; ENSEMBL ID: ENSG00000175426; HGNC ID: 8743
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 
fetus1 / 5640121
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult33 / 193912117
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal78 / 336030723
ovarian tumor2 / 7668226
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone3 / 7165541
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary2 / 10205119
pancreas47 / 214812218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205825_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.2
Adipocyte9.9
AdrenalCortex11.65
Adrenalgland8.95
Amygdala30.35
Appendix12.9
AtrioventricularNode9.45
BDCA4+_DentriticCells9.4
Bonemarrow10.55
BronchialEpithelialCells9.45
CD105+_Endothelial9.85
CD14+_Monocytes10.55
CD19+_BCells(neg._sel.)10.1
CD33+_Myeloid11.8
CD34+11.15
CD4+_Tcells9.85
CD56+_NKCells10.95
CD71+_EarlyErythroid10.05
CD8+_Tcells9.3
CardiacMyocytes21.7
Caudatenucleus8.9
Cerebellum8
CerebellumPeduncles11.7
CiliaryGanglion9.9
CingulateCortex27
Colorectaladenocarcinoma9.9
DorsalRootGanglion9.3
FetalThyroid10.1
Fetalbrain9.65
Fetalliver8.85
Fetallung7.4
GlobusPallidus10.6
Heart18.9
Hypothalamus32.4
Kidney8.6
Leukemia_chronicMyelogenousK-5628.9
Leukemia_promyelocytic-HL-608.3
Leukemialymphoblastic(MOLT-4)7.45
Liver15.45
Lung10.55
Lymphnode8
Lymphoma_burkitts(Daudi)12.95
Lymphoma_burkitts(Raji)15.45
MedullaOblongata35.25
OccipitalLobe36.65
OlfactoryBulb7.55
Ovary7.4
Pancreas8.3
PancreaticIslet894.2
ParietalLobe25.85
Pituitary45.4
Placenta9.4
Pons10.55
PrefrontalCortex28.2
Prostate11.5
Salivarygland8.45
SkeletalMuscle18.2
Skin8.6
SmoothMuscle11.35
Spinalcord10.45
SubthalamicNucleus18.8
SuperiorCervicalGanglion18.6
TemporalLobe14.95
Testis8.4
TestisGermCell7.7
TestisIntersitial8.4
TestisLeydigCell10.15
TestisSeminiferousTubule8.45
Thalamus12.9
Thymus7.4
Thyroid11.75
Tongue10.95
Tonsil9.8
Trachea8.05
TrigeminalGanglion12.65
Uterus7.95
UterusCorpus28.9
WholeBlood10.65
Wholebrain98.7
colon10
pineal_day217.9
pineal_night479.78
retina12.05
small_intestine9.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P213508
  • 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
Amygdala7.85 ± 0.56
Basal Forebrain6.55 ± 1.01
Basal Part of Pons7.23 ± 0.89
Cerebellar Cortex6.63 ± 0.78
Cerebellar Nuclei5.22 ± 0.71
Claustrum9.36 ± 0.56
Epithalamus7.27 ± 0.99
Frontal Lobe8.19 ± 0.98
Globus Pallidus5.42 ± 2.71
Hypothalamus10.13 ± 1.08
Insula7.76 ± 0.63
Limbic Lobe8.16 ± 1.1
Mesencephalon8.8 ± 1.49
Myelencephalon8.3 ± 1.35
Occipital Lobe9.96 ± 1.37
Parietal Lobe8.71 ± 0.86
Pontine Tegmentum7.82 ± 1.59
Striatum8.42 ± 1.35
Subthalamus6.49 ± 0.35
Temporal Lobe7.89 ± 1.15
Thalamus8.51 ± 1.09
White Matter5.51 ± 2.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcsk1CBCerebellum9.02
11.48
Pcsk1CTXCerebral cortex11.7
7.31
Pcsk1HIPHippocampal region3.87
3.36
Pcsk1HPFHippocampal formation5.44
4.31
Pcsk1HYHypothalamus7.18
7.54
Pcsk1LSXLateral septal complex1.27
0.96
Pcsk1MBMidbrain2.91
2.63
Pcsk1MYMedulla2.77
3.22
Pcsk1OLFOlfactory bulb12.72
7.25
Pcsk1PPons2.89
2.94
Pcsk1PALPallidum3.01
2.42
Pcsk1RHPRetrohippocampal region7.88
5.47
Pcsk1sAMYStriatum-like amygdalar nuclei2.95
2.3
Pcsk1STRStriatum1.39
0.94
Pcsk1STRdStriatum dorsal region1.23
0.8
Pcsk1STRvStriatum ventral region1.25
0.77
Pcsk1THThalamus2.73
1.5
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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