AutismKB 2.0

Annotation Detail for NLRP6


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Basic Information Top
Gene Symbol:NLRP6 ( CLR11.4,NALP6,PAN3,PYPAF5 )
Gene Full Name: NLR family, pyrin domain containing 6
Band: 11p15.5
Quick LinksEntrez ID:171389; OMIM: 609650; Uniprot ID:NALP6_HUMAN; ENSEMBL ID: ENSG00000174885; HGNC ID: 22944
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
10O-linkedHMM predict
30Phosphoserine(ATM)HMM predict
30Phosphoserine(CK1)HMM predict
84Phosphothreonine(PKC)HMM predict
357Phosphotyrosine(Jak)HMM predict
378N-linkedHMM predict
412Phosphoserine(CK1)HMM predict
417O-linkedHMM predict
495Phosphotyrosine(SRC)HMM predict
662S-palmitoylHMM predict
704Phosphoserine(ATM)HMM predict
707O-linkedHMM predict
811Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138329
  • Location:chr11 268569-275302
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 258803 258982 179 9677
FOXA1 MCF7GSE15244 263221 263376 155 5271
NRSF pAbJurkat 257888 258466 578 10393
NRSF pAbJurkat 260635 261073 438 7716
P300 T30-glioblastomaGSE21026 258544 259953 1409 9321
TFAP2C MCF7GSE21234 257369 257997 628 10887
hScc1 BcellGSE12603 257959 258466 507 10357
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 277272 277922 650 2295
H3K27me3 colorectalcancer 277036 278024 988 2228
H3ac HepG2E 277434 278122 688 2476
NRSF pAbJurkat 277372 277989 617 2378
hScc1 BcellGSE12603 277272 277989 717 2328
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 273645 274024 379 0
NRSF pAbJurkat 268488 269357 869 0
NRSF pAbJurkat 272057 272412 355 0
NRSF pAbJurkat 274626 275708 1082 0
hScc1 BcellGSE12603 269007 269892 885 0
hScc1 BcellGSE12603 274095 275278 1183 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