AutismKB 2.0

Annotation Detail for PORCN


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Basic Information Top
Gene Symbol:PORCN ( DHOF,FODH,MG61,MGC29687,PORC,PPN,por )
Gene Full Name: porcupine homolog (Drosophila)
Band: Xp11.23
Quick LinksEntrez ID:64840; OMIM: 300651; Uniprot ID:PORCN_HUMAN; ENSEMBL ID: ENSG00000102312; HGNC ID: 17652
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 
blastocyst1 / 6231916
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult28 / 193912114
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal35 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone2 / 7165527
bone marrow0 / 488010 
brain21 / 110098919
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland2 / 2015599
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219483_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.1
Adipocyte3.15
AdrenalCortex4.15
Adrenalgland13.45
Amygdala3.5
Appendix3.1
AtrioventricularNode2.35
BDCA4+_DentriticCells3.6
Bonemarrow3.05
BronchialEpithelialCells28.8
CD105+_Endothelial3.25
CD14+_Monocytes3.4
CD19+_BCells(neg._sel.)3.45
CD33+_Myeloid4.1
CD34+4.1
CD4+_Tcells3.8
CD56+_NKCells4.85
CD71+_EarlyErythroid2.95
CD8+_Tcells3.15
CardiacMyocytes3.9
Caudatenucleus2.85
Cerebellum2.65
CerebellumPeduncles3.6
CiliaryGanglion2.55
CingulateCortex3.25
Colorectaladenocarcinoma4.1
DorsalRootGanglion2.4
FetalThyroid3.25
Fetalbrain3.2
Fetalliver2.7
Fetallung2.6
GlobusPallidus2.3
Heart4
Hypothalamus3.45
Kidney2.5
Leukemia_chronicMyelogenousK-5622.85
Leukemia_promyelocytic-HL-602.75
Leukemialymphoblastic(MOLT-4)2.55
Liver4.15
Lung3.4
Lymphnode2.7
Lymphoma_burkitts(Daudi)4.05
Lymphoma_burkitts(Raji)4.3
MedullaOblongata2.9
OccipitalLobe2.85
OlfactoryBulb2.45
Ovary2.05
Pancreas2.5
PancreaticIslet3.35
ParietalLobe3.3
Pituitary3.7
Placenta3.3
Pons3
PrefrontalCortex4.25
Prostate3.7
Salivarygland2.5
SkeletalMuscle3.6
Skin2.35
SmoothMuscle3.55
Spinalcord3.4
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.5
TemporalLobe2.85
Testis2.7
TestisGermCell2.85
TestisIntersitial2.6
TestisLeydigCell3.05
TestisSeminiferousTubule2.7
Thalamus3.2
Thymus2.45
Thyroid3.95
Tongue3.05
Tonsil3.05
Trachea2.65
TrigeminalGanglion3.1
Uterus2.6
UterusCorpus3.1
WholeBlood3.4
Wholebrain2.75
colon3.15
pineal_day7.72
pineal_night5.08
retina3.825
small_intestine3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9529_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
Amygdala5.19 ± 0.64
Basal Forebrain4.98 ± 0.41
Basal Part of Pons5.4 ± 0.34
Cerebellar Cortex5.44 ± 0.39
Cerebellar Nuclei4.47 ± 0.66
Claustrum4.79 ± 0.42
Epithalamus4.53 ± 0.57
Frontal Lobe5.16 ± 0.58
Globus Pallidus4.24 ± 0.34
Hypothalamus4.79 ± 0.51
Insula5.18 ± 0.52
Limbic Lobe5.12 ± 0.53
Mesencephalon4.98 ± 0.58
Myelencephalon5.08 ± 0.54
Occipital Lobe4.76 ± 0.5
Parietal Lobe4.92 ± 0.52
Pontine Tegmentum4.7 ± 0.58
Striatum4.47 ± 0.55
Subthalamus5.21 ± 0.42
Temporal Lobe5.19 ± 0.47
Thalamus4.88 ± 0.46
White Matter4.52 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PorcnCBCerebellum20.48
21.25
PorcnCTXCerebral cortex12.4
9.51
PorcnHIPHippocampal region28.99
40.64
PorcnHPFHippocampal formation23.41
28.47
PorcnHYHypothalamus0.58
0.53
PorcnLSXLateral septal complex0.8
0.55
PorcnMBMidbrain2.43
2.42
PorcnMYMedulla9.64
11.27
PorcnOLFOlfactory bulb13.8
11.88
PorcnPPons4.41
5.58
PorcnPALPallidum0.85
0.77
PorcnRHPRetrohippocampal region11.93
9.41
PorcnsAMYStriatum-like amygdalar nuclei1.33
0.84
PorcnSTRStriatum1.71
1.27
PorcnSTRdStriatum dorsal region2.04
1.58
PorcnSTRvStriatum ventral region1.19
0.81
PorcnTHThalamus3.47
3.68
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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