AutismKB 2.0

Annotation Detail for PCOLCE


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Basic Information Top
Gene Symbol:PCOLCE ( PCPE,PCPE1 )
Gene Full Name: procollagen C-endopeptidase enhancer
Band: 7q22.1
Quick LinksEntrez ID:5118; OMIM: 600270; Uniprot ID:PCOC1_HUMAN; ENSEMBL ID: ENSG00000106333; HGNC ID: 8738
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 body11 / 70761155
blastocyst3 / 6231948
fetus97 / 564012171
neonate4 / 31097128
infant4 / 23620169
juvenile6 / 55556107
adult189 / 193912197
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma27 / 82823325
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma7 / 10688365
head and neck tumor11 / 13630280
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor11 / 103127106
lymphoma0 / 717550 
non-neoplasia18 / 97250185
normal336 / 336030799
ovarian tumor8 / 76682104
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS113 / 125680899
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone32 / 71655446
bone marrow5 / 48801102
brain105 / 110098995
cervix3 / 4817162
connective tissue32 / 149255214
ear4 / 16212246
embryonic tissue35 / 215722162
esophagus1 / 2020949
eye29 / 211054137
heart31 / 89626345
intestine12 / 23447251
kidney6 / 21177728
larynx0 / 241450 
liver4 / 20774319
lung46 / 336974136
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth1 / 6705214
muscle7 / 10771564
nerve1 / 1576863
ovary11 / 102051107
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta47 / 280825167
prostate14 / 18934573
salivary gland11 / 20155545
skin8 / 21057437
spleen2 / 5395237
stomach4 / 9661941
testis20 / 33044260
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
uterus21 / 23287890
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202465_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.2
Adipocyte170
AdrenalCortex8.65
Adrenalgland11.25
Amygdala7.3
Appendix7.1
AtrioventricularNode5.5
BDCA4+_DentriticCells6.1
Bonemarrow7
BronchialEpithelialCells6.25
CD105+_Endothelial7.35
CD14+_Monocytes6
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid7.15
CD34+5.7
CD4+_Tcells6.6
CD56+_NKCells7.4
CD71+_EarlyErythroid5.45
CD8+_Tcells5.5
CardiacMyocytes61.55
Caudatenucleus6.4
Cerebellum5.75
CerebellumPeduncles7.9
CiliaryGanglion7.55
CingulateCortex7.25
Colorectaladenocarcinoma7.05
DorsalRootGanglion6.6
FetalThyroid11.2
Fetalbrain7.25
Fetalliver9.8
Fetallung34.75
GlobusPallidus5.15
Heart20.8
Hypothalamus7.5
Kidney5.7
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-605.95
Leukemialymphoblastic(MOLT-4)5.8
Liver355.85
Lung15.8
Lymphnode10.2
Lymphoma_burkitts(Daudi)9.05
Lymphoma_burkitts(Raji)8.7
MedullaOblongata6.3
OccipitalLobe6.05
OlfactoryBulb18.2
Ovary4.7
Pancreas5.65
PancreaticIslet7.65
ParietalLobe7.45
Pituitary8.4
Placenta8.95
Pons6.75
PrefrontalCortex7.5
Prostate9.55
Salivarygland5.6
SkeletalMuscle8.2
Skin6.25
SmoothMuscle319.9
Spinalcord8.4
SubthalamicNucleus6.4
SuperiorCervicalGanglion8.25
TemporalLobe6.5
Testis9.5
TestisGermCell6.8
TestisIntersitial6.25
TestisLeydigCell7.3
TestisSeminiferousTubule6.15
Thalamus7.1
Thymus6.5
Thyroid11.5
Tongue6.9
Tonsil7.2
Trachea7.75
TrigeminalGanglion10.65
Uterus266.7
UterusCorpus9.95
WholeBlood6.25
Wholebrain5.8
colon6.85
pineal_day8.94
pineal_night8.82
retina12.4
small_intestine6.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6139_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
Amygdala2.29 ± 1.06
Basal Forebrain2.13 ± 1.34
Basal Part of Pons1.55 ± 0.6
Cerebellar Cortex1.77 ± 0.82
Cerebellar Nuclei2.03 ± 0.73
Claustrum2.72 ± 0.92
Epithalamus1.48 ± 0.76
Frontal Lobe1.77 ± 0.79
Globus Pallidus2.55 ± 0.79
Hypothalamus1.88 ± 0.7
Insula1.68 ± 0.6
Limbic Lobe1.79 ± 0.68
Mesencephalon2.08 ± 0.76
Myelencephalon1.88 ± 0.72
Occipital Lobe1.93 ± 0.9
Parietal Lobe1.89 ± 0.73
Pontine Tegmentum1.85 ± 0.73
Striatum1.95 ± 0.73
Subthalamus1.87 ± 0.7
Temporal Lobe1.82 ± 0.75
Thalamus1.84 ± 0.67
White Matter1.87 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PcolceCBCerebellum0
0
PcolceCTXCerebral cortex0
0
PcolceHIPHippocampal region0
0
PcolceHPFHippocampal formation0
0
PcolceHYHypothalamus0
0
PcolceLSXLateral septal complex0
0
PcolceMBMidbrain0
0
PcolceMYMedulla0
0
PcolceOLFOlfactory bulb0
0
PcolcePPons0
0
PcolcePALPallidum0
0
PcolceRHPRetrohippocampal region0
0
PcolcesAMYStriatum-like amygdalar nuclei0
0
PcolceSTRStriatum0
0
PcolceSTRdStriatum dorsal region0
0
PcolceSTRvStriatum ventral region0
0
PcolceTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00044024 17 349 365 EPGEGLAVTVSLIGAYK 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