AutismKB 2.0

Annotation Detail for NLRP3


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Basic Information Top
Gene Symbol:NLRP3 ( AGTAVPRL,AII,AII/AVP,AVP,C1orf7,CIAS1,CLR1.1,FCAS,FCU,FLJ95925,MWS,NALP3,PYPAF1 )
Gene Full Name: NLR family, pyrin domain containing 3
Band: 1q44
Quick LinksEntrez ID:114548; OMIM: 606416; Uniprot ID:NALP3_HUMAN; ENSEMBL ID: ENSG00000162711; HGNC ID: 16400
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 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult11 / 19391215
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal9 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain4 / 11009893
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207075_at
Cell line Expression level Expression bar
721_B_lymphoblasts4
Adipocyte3.15
AdrenalCortex3.25
Adrenalgland2.65
Amygdala3.35
Appendix3.2
AtrioventricularNode2.4
BDCA4+_DentriticCells23.9
Bonemarrow3.05
BronchialEpithelialCells3.15
CD105+_Endothelial3.2
CD14+_Monocytes273.85
CD19+_BCells(neg._sel.)3.4
CD33+_Myeloid609.35
CD34+20.05
CD4+_Tcells3.5
CD56+_NKCells3.95
CD71+_EarlyErythroid2.95
CD8+_Tcells3.1
CardiacMyocytes4.05
Caudatenucleus2.8
Cerebellum2.55
CerebellumPeduncles3.5
CiliaryGanglion2.2
CingulateCortex3.2
Colorectaladenocarcinoma3.15
DorsalRootGanglion2.4
FetalThyroid3.05
Fetalbrain3.15
Fetalliver2.7
Fetallung2.65
GlobusPallidus2.3
Heart4
Hypothalamus3.45
Kidney2.5
Leukemia_chronicMyelogenousK-5622.85
Leukemia_promyelocytic-HL-602.8
Leukemialymphoblastic(MOLT-4)2.55
Liver4.15
Lung3.5
Lymphnode2.7
Lymphoma_burkitts(Daudi)4
Lymphoma_burkitts(Raji)4.4
MedullaOblongata2.9
OccipitalLobe2.85
OlfactoryBulb2.5
Ovary2.05
Pancreas2.5
PancreaticIslet3.35
ParietalLobe3.3
Pituitary3.7
Placenta3.3
Pons2.95
PrefrontalCortex3.95
Prostate3.7
Salivarygland2.5
SkeletalMuscle3.6
Skin2.4
SmoothMuscle3.6
Spinalcord3.4
SubthalamicNucleus2.85
SuperiorCervicalGanglion3.5
TemporalLobe2.9
Testis2.7
TestisGermCell2.6
TestisIntersitial2.65
TestisLeydigCell3.1
TestisSeminiferousTubule2.7
Thalamus3.2
Thymus2.5
Thyroid4
Tongue3.05
Tonsil3.05
Trachea2.6
TrigeminalGanglion3.1
Uterus2.55
UterusCorpus2.8
WholeBlood3.5
Wholebrain2.7
colon3.15
pineal_day3.96
pineal_night3.86
retina3.85
small_intestine3.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P9883
  • 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 ± 0.63
Basal Forebrain5.42 ± 0.29
Basal Part of Pons5.73 ± 0.39
Cerebellar Cortex4.76 ± 0.45
Cerebellar Nuclei5.57 ± 0.6
Claustrum4.59 ± 0.66
Epithalamus5.04 ± 0.56
Frontal Lobe5.29 ± 0.47
Globus Pallidus5.31 ± 0.73
Hypothalamus5.42 ± 0.46
Insula5.42 ± 0.41
Limbic Lobe5.12 ± 0.6
Mesencephalon5.01 ± 0.56
Myelencephalon5.11 ± 0.62
Occipital Lobe5.21 ± 0.68
Parietal Lobe5.43 ± 0.47
Pontine Tegmentum5.16 ± 0.5
Striatum4.76 ± 0.82
Subthalamus5.28 ± 0.66
Temporal Lobe5.45 ± 0.33
Thalamus5.17 ± 0.46
White Matter4.12 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cias1CBCerebellum0.14
0.29
Cias1CTXCerebral cortex0.47
0.77
Cias1HIPHippocampal region0.18
0.29
Cias1HPFHippocampal formation0.14
0.23
Cias1HYHypothalamus0.07
0.13
Cias1LSXLateral septal complex0.07
0.05
Cias1MBMidbrain0.06
0.09
Cias1MYMedulla0.24
0.42
Cias1OLFOlfactory bulb0.25
0.7
Cias1PPons0.04
0.06
Cias1PALPallidum0.14
0.14
Cias1RHPRetrohippocampal region0.07
0.13
Cias1sAMYStriatum-like amygdalar nuclei0.11
0.1
Cias1STRStriatum0.03
0.04
Cias1STRdStriatum dorsal region0.02
0.01
Cias1STRvStriatum ventral region0.03
0.07
Cias1THThalamus0.14
0.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NALP3_HUMAN_80 8 80 87 DLYEKAKR 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


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