AutismKB 2.0

Annotation Detail for PCSK5


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Basic Information Top
Gene Symbol:PCSK5 ( FLJ11149,FLJ16215,PC5,PC6,PC6A,SPC6 )
Gene Full Name: proprotein convertase subtilisin/kexin type 5
Band: 9q21.13
Quick LinksEntrez ID:5125; OMIM: 600488; Uniprot ID:PCSK5_HUMAN; ENSEMBL ID: ENSG00000099139; HGNC ID: 8747
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
blastocyst1 / 6231916
fetus30 / 56401253
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult69 / 193912135
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor16 / 136302117
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal92 / 336030727
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye7 / 21105433
heart3 / 8962633
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver3 / 20774314
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach4 / 9661941
testis14 / 33044242
thymus5 / 8113161
thyroid14 / 47473294
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213652_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.5
Adipocyte9.2
AdrenalCortex12.95
Adrenalgland8.2
Amygdala9.05
Appendix16.1
AtrioventricularNode11.05
BDCA4+_DentriticCells8.3
Bonemarrow9.95
BronchialEpithelialCells8.2
CD105+_Endothelial8.7
CD14+_Monocytes11.3
CD19+_BCells(neg._sel.)9.15
CD33+_Myeloid24.8
CD34+10.6
CD4+_Tcells17.4
CD56+_NKCells15.55
CD71+_EarlyErythroid8.75
CD8+_Tcells22.1
CardiacMyocytes16.55
Caudatenucleus8.1
Cerebellum7.35
CerebellumPeduncles10.9
CiliaryGanglion9.2
CingulateCortex9.6
Colorectaladenocarcinoma10.3
DorsalRootGanglion11.45
FetalThyroid9.1
Fetalbrain9.15
Fetalliver7.65
Fetallung6.7
GlobusPallidus7.3
Heart15.45
Hypothalamus9.25
Kidney8.15
Leukemia_chronicMyelogenousK-5628
Leukemia_promyelocytic-HL-607.4
Leukemialymphoblastic(MOLT-4)6.85
Liver14
Lung9.55
Lymphnode7.15
Lymphoma_burkitts(Daudi)11.65
Lymphoma_burkitts(Raji)13.95
MedullaOblongata8.05
OccipitalLobe7.9
OlfactoryBulb6.95
Ovary8.5
Pancreas7.95
PancreaticIslet9.4
ParietalLobe10.25
Pituitary10.05
Placenta8.95
Pons9.8
PrefrontalCortex10.65
Prostate10.1
Salivarygland7.65
SkeletalMuscle16.25
Skin11.8
SmoothMuscle11.05
Spinalcord9.55
SubthalamicNucleus8.65
SuperiorCervicalGanglion14.6
TemporalLobe8.55
Testis7.6
TestisGermCell7.35
TestisIntersitial9.45
TestisLeydigCell9.4
TestisSeminiferousTubule8
Thalamus9.45
Thymus7.35
Thyroid10.85
Tongue10.8
Tonsil9
Trachea7.45
TrigeminalGanglion16.3
Uterus10.5
UterusCorpus9.95
WholeBlood9.7
Wholebrain7
colon9.1
pineal_day10.38
pineal_night10.44
retina10.925
small_intestine14
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_32_PI416408490
  • 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
Amygdala3.94 ± 0.55
Basal Forebrain3.84 ± 0.29
Basal Part of Pons4.52 ± 0.52
Cerebellar Cortex3.44 ± 0.62
Cerebellar Nuclei3.69 ± 0.6
Claustrum4.18 ± 1.14
Epithalamus4.2 ± 0.33
Frontal Lobe4.04 ± 0.51
Globus Pallidus5 ± 0.53
Hypothalamus3.34 ± 0.5
Insula3.99 ± 0.33
Limbic Lobe4.35 ± 0.72
Mesencephalon3.79 ± 0.64
Myelencephalon3.92 ± 0.61
Occipital Lobe3.6 ± 0.56
Parietal Lobe3.61 ± 0.67
Pontine Tegmentum3.76 ± 0.61
Striatum4.02 ± 0.6
Subthalamus3.32 ± 0.84
Temporal Lobe3.85 ± 0.5
Thalamus3.82 ± 0.58
White Matter3.24 ± 1.05
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcsk5CBCerebellum10.39
16.55
Pcsk5CTXCerebral cortex38.85
34.65
Pcsk5HIPHippocampal region35.95
56.42
Pcsk5HPFHippocampal formation47.18
62.85
Pcsk5HYHypothalamus5.81
4.91
Pcsk5LSXLateral septal complex4.31
4.19
Pcsk5MBMidbrain5.28
5.88
Pcsk5MYMedulla8.43
9.04
Pcsk5OLFOlfactory bulb41.33
39.35
Pcsk5PPons11.11
13.36
Pcsk5PALPallidum4.34
3.93
Pcsk5RHPRetrohippocampal region62.23
69.42
Pcsk5sAMYStriatum-like amygdalar nuclei13.37
11.28
Pcsk5STRStriatum6.6
6.28
Pcsk5STRdStriatum dorsal region5.9
6.18
Pcsk5STRvStriatum ventral region5.18
3.82
Pcsk5THThalamus7.8
8.45
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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