AutismKB 2.0

Annotation Detail for NLRP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NLRP1 ( CARD7,CLR17.1,DEFCAP,DEFCAP-L/S,DKFZp586O1822,KIAA0926,NAC,NALP1,PP1044,SLEV1,VAMAS1 )
Gene Full Name: NLR family, pyrin domain containing 1
Band: 17p13
Quick LinksEntrez ID:22861; OMIM: 606636; Uniprot ID:NALP1_HUMAN; ENSEMBL ID: ENSG00000091592; HGNC ID: 14374
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
36Phosphoserine(CK1)HMM predict
37Phosphoserine(CK1)HMM predict
37O-linkedHMM predict
38Phosphoserine(CK1)HMM predict
38Phosphoserine(ATM)HMM predict
38Phosphoserine(IKK)HMM predict
38O-linkedHMM predict
41Phosphothreonine(CDC2)HMM predict
99Phosphoserine(CDC2)HMM predict
99Phosphoserine(ATM)HMM predict
99Phosphoserine(IKK)HMM predict
107O-linkedHMM predict
107Phosphoserine(CDC2)HMM predict
109O-linkedHMM predict
109Phosphoserine(ATM)HMM predict
163Phosphoserine(CDC2)HMM predict
163Phosphoserine(CDK)HMM predict
163Phosphoserine(ATM)HMM predict
170O-linkedHMM predict
170Phosphoserine(CK1)HMM predict
170Phosphoserine(ATM)HMM predict
173Phosphoserine(IKK)HMM predict
178O-linkedHMM predict
179O-linkedHMM predict
193O-linkedHMM predict
240Phosphothreonine(CDK)HMM predict
247O-linkedHMM predict
262Phosphoserine(IKK)HMM predict
303Phosphotyrosine(INSR)HMM predict
391Phosphothreonine(MAPK)HMM predict
544O-linkedHMM predict
548O-linkedHMM predict
573Phosphoserine(MAPK)HMM predict
670Phosphothreonine(PKC)HMM predict
727N-linkedHMM predict
816Phosphoserine(ATM)HMM predict
864N-linkedHMM predict
921Phosphoserine(MAPK)HMM predict
921Phosphoserine(CDC2)HMM predict
990Phosphoserine(PKG)HMM predict
993Phosphothreonine(CDK)HMM predict
1005N-linkedHMM predict
1008Phosphoserine(CDC2)HMM predict
1009Phosphoserine(CK1)HMM predict
1022Phosphoserine(PKG)HMM predict
1061Phosphoserine(MAPK)HMM predict
1061Phosphoserine(CDC2)HMM predict
1098Phosphotyrosine(Jak)HMM predict
1209N-linkedHMM predict
1213Phosphoserine(CDC2)HMM predict
1282Phosphothreonine(MAPK)HMM predict
1295Phosphoserine(IKK)HMM predict
1413Phosphotyrosine(Syk)HMM predict
1431Phosphoserine(CAMK2)HMM predict
1433Phosphoserine(ATM)HMM predict
1468LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001033053
  • Location:chr17 5343471-5428552
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 5431477 5431877 400 3125
CTCF CD4SISSRdata 5431477 5431877 400 3125
CTCF G2GSE9613 5431146 5432190 1044 3116
CTCF G2GSE9613 5436242 5436804 562 7971
KLF4 hESGSE17917 5440809 5440969 160 12337
NRSF JurkatGSE13047 5437488 5438043 555 9213
NRSF mAbJurkat 5437497 5439588 2091 9990
NRSF mAbJurkat 5441514 5442080 566 13245
NRSF-mono JurkatQuESTdata 5437514 5438016 502 9213
NRSF-poly JurkatQuESTdata 5437415 5438327 912 9319
Oct1 H2O2-HelaGSE14283 5440388 5440423 35 11853
Sox2 hESGSE18292 5431607 5431868 261 3185
hScc1 BcellGSE12603 5431146 5432543 1397 3292
hScc1 BcellGSE12603 5436009 5436804 795 7854
hScc1 CdLSGSE12603 5431146 5432369 1223 3205
hScc1 CdLSGSE12603 5436188 5436804 616 7944
p130 SenescentGSE19898 5428634 5428821 187 175
p130 shRbSenescentGSE19898 5429038 5429223 185 578
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 5342901 5343729 828 157
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5344731 5344942 211 0
H3K27me3 colorectalcancer 5346637 5347403 766 0
TFAP2C MCF7GSE21234 5345069 5345617 548 0
hScc1 BcellGSE12603 5343831 5344244 413 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7d hsa-let-7d 9 21307844
hsa-let-7d* hsa-let-7d 9 21307844
hsa-miR-124 hsa-mir-124-1 8 21307844
hsa-miR-124 hsa-mir-124-2 8 21307844
hsa-miR-124 hsa-mir-124-3 20 21307844
hsa-miR-181a hsa-mir-181a-2 9 21307844
hsa-miR-181a hsa-mir-181a-1 1 21307844
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
10542 EST chr17 5398042 5403448 178 mRNA NALP1 chr17 5358162 5428550Sense/Antisense (SA) pairs

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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