AutismKB 2.0

Annotation Detail for PCSK9


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PCSK9 ( FH3,HCHOLA3,LDLCQ1,NARC-1,NARC1,PC9 )
Gene Full Name: proprotein convertase subtilisin/kexin type 9
Band: 1p32.3
Quick LinksEntrez ID:255738; OMIM: 607786; Uniprot ID:PCSK9_HUMAN; ENSEMBL ID: ENSG00000169174; HGNC ID: 20001
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 
blastocyst3 / 6231948
fetus20 / 56401235
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult40 / 193912120
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 tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor22 / 26384583
glioma0 / 1068830 
head and neck tumor25 / 136302183
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal45 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
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 gland0 / 331970 
ascites4 / 4001599
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain29 / 110098926
cervix7 / 48171145
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine6 / 23447225
kidney0 / 2117770 
larynx0 / 241450 
liver6 / 20774328
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth25 / 67052372
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland1 / 2015549
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis19 / 33044257
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16798_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
Amygdala4.41 ± 0.66
Basal Forebrain4.04 ± 0.63
Basal Part of Pons4.17 ± 0.35
Cerebellar Cortex4.45 ± 0.36
Cerebellar Nuclei4.22 ± 0.5
Claustrum4.71 ± 0.64
Epithalamus3.76 ± 0.43
Frontal Lobe4.03 ± 0.62
Globus Pallidus4.1 ± 0.71
Hypothalamus3.65 ± 0.98
Insula3.83 ± 0.64
Limbic Lobe4.13 ± 0.55
Mesencephalon3.97 ± 0.56
Myelencephalon4.14 ± 0.56
Occipital Lobe4.17 ± 0.51
Parietal Lobe4.16 ± 0.56
Pontine Tegmentum4.04 ± 0.64
Striatum3.91 ± 0.61
Subthalamus4.51 ± 0.3
Temporal Lobe4 ± 0.59
Thalamus4.18 ± 0.49
White Matter4.1 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcsk9CBCerebellum2.26
3.23
Pcsk9CTXCerebral cortex6.76
4.1
Pcsk9HIPHippocampal region0.43
0.42
Pcsk9HPFHippocampal formation1.95
1.51
Pcsk9HYHypothalamus0.59
0.33
Pcsk9LSXLateral septal complex0.08
0
Pcsk9MBMidbrain0.52
0.26
Pcsk9MYMedulla1.82
1.85
Pcsk9OLFOlfactory bulb19.29
14.93
Pcsk9PPons1.62
1.28
Pcsk9PALPallidum1.06
0.47
Pcsk9RHPRetrohippocampal region4.63
3.15
Pcsk9sAMYStriatum-like amygdalar nuclei12.16
4.92
Pcsk9STRStriatum2.27
1.17
Pcsk9STRdStriatum dorsal region1.53
0.86
Pcsk9STRvStriatum ventral region2.16
1.16
Pcsk9THThalamus0.96
1.69
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00037495 20 47 66 SEEDGLAEAPEHGTTATFHR Peptide Atlas
PCSK9_HUMAN_110 15 110 124 ILHVFHGLLPGFLVK PRIDE

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