AutismKB 2.0

Annotation Detail for PCSK1N


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Basic Information Top
Gene Symbol:PCSK1N ( PROSAAS,SAAS )
Gene Full Name: proprotein convertase subtilisin/kexin type 1 inhibitor
Band: Xp11.23
Quick LinksEntrez ID:27344; OMIM: 300399; Uniprot ID:PCSK1_HUMAN; ENSEMBL ID: ENSG00000102109; HGNC ID: 17301
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 body2 / 7076128
blastocyst0 / 623190 
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult106 / 193912154
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma11 / 106883102
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal285 / 336030784
ovarian tumor0 / 766820 
pancreatic tumor106 / 1046161013
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain132 / 1100989119
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye20 / 21105494
heart0 / 896260 
intestine1 / 2344724
kidney33 / 211777155
larynx0 / 241450 
liver0 / 2077430 
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary0 / 1020510 
pancreas226 / 2148121052
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland13 / 16585783
placenta3 / 28082510
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218952_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.05
Adipocyte5.95
AdrenalCortex19.3
Adrenalgland10.95
Amygdala742.2
Appendix6.2
AtrioventricularNode4.7
BDCA4+_DentriticCells7.25
Bonemarrow6.1
BronchialEpithelialCells6.4
CD105+_Endothelial5.7
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)10.3
CD33+_Myeloid8.05
CD34+7.7
CD4+_Tcells10.3
CD56+_NKCells7.05
CD71+_EarlyErythroid9.35
CD8+_Tcells6.7
CardiacMyocytes8.5
Caudatenucleus295.05
Cerebellum89.9
CerebellumPeduncles213.75
CiliaryGanglion4.5
CingulateCortex295.7
Colorectaladenocarcinoma83.35
DorsalRootGanglion13.15
FetalThyroid5.8
Fetalbrain296.75
Fetalliver5.2
Fetallung5.2
GlobusPallidus207.9
Heart9.55
Hypothalamus700.25
Kidney67.35
Leukemia_chronicMyelogenousK-5626.25
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)8.65
Liver8.45
Lung7.15
Lymphnode5.4
Lymphoma_burkitts(Daudi)15.65
Lymphoma_burkitts(Raji)22.85
MedullaOblongata233.3
OccipitalLobe280.4
OlfactoryBulb4.75
Ovary3.75
Pancreas7.2
PancreaticIslet941
ParietalLobe258.7
Pituitary1126.65
Placenta5.8
Pons229.05
PrefrontalCortex818.8
Prostate14.05
Salivarygland4.7
SkeletalMuscle7.2
Skin4.75
SmoothMuscle6.85
Spinalcord248
SubthalamicNucleus267.05
SuperiorCervicalGanglion7
TemporalLobe348.5
Testis5.8
TestisGermCell5.5
TestisIntersitial6.6
TestisLeydigCell6.2
TestisSeminiferousTubule5.3
Thalamus241.2
Thymus4.7
Thyroid7.5
Tongue5.45
Tonsil6.1
Trachea5.2
TrigeminalGanglion6.1
Uterus5.3
UterusCorpus5.7
WholeBlood6.65
Wholebrain721.5
colon5.6
pineal_day723.34
pineal_night653.32
retina117.375
small_intestine5.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P14731
  • 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
Amygdala9.86 ± 0.65
Basal Forebrain10.43 ± 0.34
Basal Part of Pons10.53 ± 0.52
Cerebellar Cortex9.76 ± 0.32
Cerebellar Nuclei10.09 ± 0.4
Claustrum9.54 ± 0.73
Epithalamus10.61 ± 0.43
Frontal Lobe10.34 ± 0.51
Globus Pallidus10 ± 0.47
Hypothalamus10.92 ± 0.44
Insula10.4 ± 0.44
Limbic Lobe9.96 ± 0.55
Mesencephalon10.1 ± 0.52
Myelencephalon10.18 ± 0.56
Occipital Lobe9.69 ± 0.6
Parietal Lobe10.26 ± 0.55
Pontine Tegmentum10.06 ± 0.6
Striatum10.21 ± 0.58
Subthalamus10.56 ± 0.86
Temporal Lobe10.38 ± 0.42
Thalamus10.2 ± 0.48
White Matter8.91 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcsk1nCBCerebellum21.86
27.6
Pcsk1nCTXCerebral cortex65.8
58.49
Pcsk1nHIPHippocampal region70.24
70.86
Pcsk1nHPFHippocampal formation80.16
76.76
Pcsk1nHYHypothalamus100
100
Pcsk1nLSXLateral septal complex58.86
53.6
Pcsk1nMBMidbrain91.03
93.52
Pcsk1nMYMedulla98.14
100
Pcsk1nOLFOlfactory bulb75.66
71.94
Pcsk1nPPons100
100
Pcsk1nPALPallidum84.68
89.28
Pcsk1nRHPRetrohippocampal region83.28
78.27
Pcsk1nsAMYStriatum-like amygdalar nuclei100
100
Pcsk1nSTRStriatum43.45
36.84
Pcsk1nSTRdStriatum dorsal region21.4
16.69
Pcsk1nSTRvStriatum ventral region56.93
40.68
Pcsk1nTHThalamus53.97
49.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00136138 15 202 216 ILAGSADSEGVAAPR 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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