AutismKB 2.0

Annotation Detail for NLRP7


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Basic Information Top
Gene Symbol:NLRP7 ( CLR19.4,FLJ94610,HYDM,MGC126470,MGC126471,NALP7,NOD12,PAN7,PYPAF3 )
Gene Full Name: NLR family, pyrin domain containing 7
Band: 19q13.42
Quick LinksEntrez ID:199713; OMIM: 609661; Uniprot ID:NALP7_HUMAN; ENSEMBL ID: ENSG00000167634; HGNC ID: 22947
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
60N-linkedHMM predict
65N-linkedHMM predict
69N-linkedHMM predict
73N-linkedHMM predict
79N-linkedHMM predict
170Phosphothreonine(PKA)HMM predict
186Phosphothreonine(PKC)HMM predict
318Phosphotyrosine(Jak)HMM predict
318Phosphotyrosine(EGFR)HMM predict
332Phosphotyrosine(Jak)HMM predict
578Phosphoserine(CK2)HMM predict
578Phosphoserine(ATM)HMM predict
633Phosphotyrosine(INSR)HMM predict
647Phosphotyrosine(Syk)HMM predict
685Phosphoserine(IKK)HMM predict
703Phosphothreonine(PKA)HMM predict
713N-linkedHMM predict
976CysteineHMM predict
980CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_139176
  • Location:chr19 60126689-60150678
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 60151807 60151850 43 1150
NFkBII GM10847GSE19485 60152490 60153128 638 2131
NFkBII GM12878GSE19485 60152273 60153448 1175 2182
NFkBII GM15510GSE19485 60152478 60153343 865 2232
NFkBII GM18505GSE19485 60152105 60153311 1206 2030
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 60126172 60126320 148 444
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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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