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
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
44Phosphothreonine(PKC)HMM predict
100Phosphoserine(PKG)HMM predict
101N-linkedHMM predict
177Phosphoserine(ATM)HMM predict
196Phosphoserine(IKK)HMM predict
196Phosphoserine(CDC2)HMM predict
199Phosphoserine(CDC2)HMM predict
214Phosphoserine(CK1)HMM predict
266Phosphothreonine(PKC)HMM predict
429Phosphoserine(IKK)HMM predict
434O-linkedHMM predict
436O-linkedHMM predict
710O-linkedHMM predict
740Phosphoserine(IKK)HMM predict
747Phosphoserine(ATM)HMM predict
804Phosphoserine(ATM)HMM predict
817S-palmitoylHMM predict
850Phosphoserine(CK1)HMM predict
904Phosphoserine(IKK)HMM predict
907Phosphoserine(CK1)HMM predict
911N-linkedHMM predict
950N-linkedHMM predict
973Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004895
  • Location:chr1 245647973-245679026
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 245645772 245646047 275 2064
hScc1 G2GSE9613 245628302 245628605 303 19520
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 245661141 245661695 554 0
NFkBII GM10847GSE19485 245669812 245670912 1100 0
NFkBII GM12878GSE19485 245669390 245671067 1677 0
TAF k562GSE8489 245677916 245678591 675 0
hScc1 BcellGSE12603 245654257 245654602 345 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-146a hsa-mir-146a 5 20011700
hsa-miR-146a hsa-mir-146a 5 20011700
hsa-miR-146a* hsa-mir-146a 5 20011700
hsa-miR-146a* hsa-mir-146a 5 20011700
No data
Cis-Nats regulation 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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