AutismKB 2.0

Annotation Detail for NLRP4


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Basic Information Top
Gene Symbol:NLRP4 ( CLR19.5,CT58,FLJ32126,NALP4,PAN2,PYPAF4,RNH2 )
Gene Full Name: NLR family, pyrin domain containing 4
Band: 19q13.43
Quick LinksEntrez ID:147945; OMIM: 609645; Uniprot ID:NALP4_HUMAN; ENSEMBL ID: ENSG00000160505; HGNC ID: 22943
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
70N-linkedHMM predict
95Phosphotyrosine(INSR)HMM predict
221Phosphoserine(ATM)HMM predict
368O-linkedHMM predict
370Phosphoserine(CK1)HMM predict
370O-linkedHMM predict
524Phosphoserine(ATM)HMM predict
617Phosphoserine(CK1)HMM predict
617Phosphoserine(IKK)HMM predict
617Phosphoserine(CK2)HMM predict
620Phosphoserine(CK1)HMM predict
676N-linkedHMM predict
698Phosphotyrosine(Jak)HMM predict
776Phosphoserine(MAPK)HMM predict
927N-linkedHMM predict
931N-linkedHMM predict
979N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_134444
  • Location:chr19 61055198-61085029
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 61053200 61054894 1694 1152
E2F4 SGSE7516 61052876 61054998 2122 1262
GABP k562GSE8489 61045584 61045783 199 9515
HIF1 HypoHepG2 61052941 61054861 1920 1298
LIN54 SGSE7516 61052941 61054894 1953 1281
hScc1 BcellGSE12603 61053311 61054861 1550 1113
p130 G0GSE7516 61053012 61054932 1920 1227
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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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