AutismKB 2.0

Annotation Detail for NLRP1


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Basic Information Top
Gene Symbol:NLRP1 ( CARD7,CLR17.1,DEFCAP,DEFCAP-L/S,DKFZp586O1822,KIAA0926,NAC,NALP1,PP1044,SLEV1,VAMAS1 )
Gene Full Name: NLR family, pyrin domain containing 1
Band: 17p13
Quick LinksEntrez ID:22861; OMIM: 606636; Uniprot ID:NALP1_HUMAN; ENSEMBL ID: ENSG00000091592; HGNC ID: 14374
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 
fetus11 / 56401219
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia23 / 95842239
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal68 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood16 / 123478129
bone7 / 7165597
bone marrow1 / 4880120
brain5 / 11009894
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine4 / 23447217
kidney1 / 2117774
larynx1 / 2414541
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node25 / 91610272
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin4 / 21057418
spleen2 / 5395237
stomach1 / 9661910
testis7 / 33044221
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord4 / 13680292
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218380_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.6
Adipocyte12.4
AdrenalCortex14.15
Adrenalgland22
Amygdala1249.95
Appendix13.8
AtrioventricularNode9.85
BDCA4+_DentriticCells48.55
Bonemarrow13.1
BronchialEpithelialCells14.65
CD105+_Endothelial12
CD14+_Monocytes77.2
CD19+_BCells(neg._sel.)36.4
CD33+_Myeloid206.95
CD34+16.8
CD4+_Tcells196.35
CD56+_NKCells75.75
CD71+_EarlyErythroid11.95
CD8+_Tcells232.25
CardiacMyocytes17.15
Caudatenucleus242.75
Cerebellum85.2
CerebellumPeduncles121.1
CiliaryGanglion9
CingulateCortex386.3
Colorectaladenocarcinoma11.3
DorsalRootGanglion9.75
FetalThyroid12.75
Fetalbrain512.3
Fetalliver11.45
Fetallung11.45
GlobusPallidus283.35
Heart16.65
Hypothalamus1284.95
Kidney9
Leukemia_chronicMyelogenousK-56233.55
Leukemia_promyelocytic-HL-6011.25
Leukemialymphoblastic(MOLT-4)10.2
Liver15.75
Lung30.6
Lymphnode28.4
Lymphoma_burkitts(Daudi)17.2
Lymphoma_burkitts(Raji)18.5
MedullaOblongata317.35
OccipitalLobe575.9
OlfactoryBulb174.1
Ovary9.1
Pancreas10.2
PancreaticIslet297.4
ParietalLobe468.45
Pituitary2333.9
Placenta13.05
Pons270
PrefrontalCortex853.4
Prostate21.05
Salivarygland10.65
SkeletalMuscle15.7
Skin10.45
SmoothMuscle21.6
Spinalcord1302.6
SubthalamicNucleus341.9
SuperiorCervicalGanglion20.65
TemporalLobe465.55
Testis78.15
TestisGermCell33.25
TestisIntersitial49.05
TestisLeydigCell29.8
TestisSeminiferousTubule55.85
Thalamus499.2
Thymus24.6
Thyroid23.55
Tongue13.1
Tonsil12.85
Trachea11.3
TrigeminalGanglion14.95
Uterus35.8
UterusCorpus34.85
WholeBlood43
Wholebrain1005.3
colon13.6
pineal_day243.66
pineal_night220.82
retina374.4
small_intestine14.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13575_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
Amygdala2.15 ± 1.01
Basal Forebrain1.74 ± 0.24
Basal Part of Pons1.5 ± 0.47
Cerebellar Cortex1.55 ± 0.66
Cerebellar Nuclei1.96 ± 0.77
Claustrum2.55 ± 0.92
Epithalamus1.53 ± 0.62
Frontal Lobe1.55 ± 0.67
Globus Pallidus2.11 ± 0.39
Hypothalamus1.72 ± 0.72
Insula1.88 ± 0.51
Limbic Lobe1.63 ± 0.63
Mesencephalon1.9 ± 0.85
Myelencephalon1.73 ± 0.62
Occipital Lobe1.68 ± 0.53
Parietal Lobe1.81 ± 0.7
Pontine Tegmentum1.69 ± 0.63
Striatum1.98 ± 0.73
Subthalamus1.84 ± 0.67
Temporal Lobe1.58 ± 0.62
Thalamus1.65 ± 0.57
White Matter1.93 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nalp1CBCerebellum0.32
1.13
Nalp1CTXCerebral cortex0.15
0.32
Nalp1HIPHippocampal region0.17
0.38
Nalp1HPFHippocampal formation0.16
0.32
Nalp1HYHypothalamus0.06
0.07
Nalp1LSXLateral septal complex0.03
0
Nalp1MBMidbrain0.21
0.41
Nalp1MYMedulla0.16
0.21
Nalp1OLFOlfactory bulb0.53
1.5
Nalp1PPons0.21
0.39
Nalp1PALPallidum0.04
0.14
Nalp1RHPRetrohippocampal region0.12
0.19
Nalp1sAMYStriatum-like amygdalar nuclei0.03
0
Nalp1STRStriatum0.04
0.07
Nalp1STRdStriatum dorsal region0.03
0.02
Nalp1STRvStriatum ventral region0.1
0.27
Nalp1THThalamus0.15
0.25
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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