AutismKB 2.0

Annotation Detail for NLRP5


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Basic Information Top
Gene Symbol:NLRP5 ( CLR19.8,MATER,NALP5,PAN11,PYPAF8 )
Gene Full Name: NLR family, pyrin domain containing 5
Band: 19q13.43
Quick LinksEntrez ID:126206; OMIM: 609658; Uniprot ID:NALP5_HUMAN; ENSEMBL ID: ENSG00000171487; HGNC ID: 21269
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
18Phosphoserine(MAPK)HMM predict
18Phosphoserine(CDC2)HMM predict
18Phosphoserine(CDK)HMM predict
30O-linkedHMM predict
43N-linkedHMM predict
46Phosphoserine(ATM)HMM predict
92O-linkedHMM predict
93O-linkedHMM predict
150Phosphoserine(IKK)HMM predict
191Phosphoserine(ATM)HMM predict
210Phosphoserine(ATM)HMM predict
373N-linkedHMM predict
423Phosphoserine(MAPK)HMM predict
495N-linkedHMM predict
677N-linkedHMM predict
680Phosphothreonine(MAPK)HMM predict
749Phosphoserine(IKK)HMM predict
891O-linkedHMM predict
895O-linkedHMM predict
912Phosphothreonine(MAPK)HMM predict
912Phosphothreonine(CDK)HMM predict
949O-linkedHMM predict
950N-linkedHMM predict
1135Phosphoserine(CDC2)HMM predict
1189Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_153447
  • Location:chr19 61202903-61264983
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 61269533 61269880 347 4723
CTCF CD4SISSRdata 61269533 61269880 347 4723
CTCF JurkatGSE12889 61269667 61270000 333 4850
CTCF G2GSE9613 61269593 61270066 473 4846
hScc1 BcellGSE12603 61269500 61270180 680 4857
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 61246558 61246839 281 0
NRSF JurkatGSE13047 61218764 61219383 619 0
NRSF mAbJurkat 61215637 61215826 189 0
NRSF mAbJurkat 61218728 61219160 432 0
NRSF mAbJurkat 61220964 61221560 596 0
NRSF mAbJurkat 61222290 61222994 704 0
NRSF mAbJurkat 61223326 61224026 700 0
NRSF mAbJurkat 61224969 61225381 412 0
NRSF-mono JurkatQuESTdata 61218913 61219382 469 0
NRSF-poly JurkatQuESTdata 61218758 61219322 564 0
NRSF-poly JurkatQuESTdata 61219639 61219789 150 0
Oct1 HelaGSE14283 61253269 61253325 56 0
RNAII Tamoxifen-MCF7GSE14664 61254383 61254464 81 0
Validated miRNA targets Top
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