AutismKB 2.0

Annotation Detail for NIPSNAP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NIPSNAP1 ( - )
Gene Full Name: nipsnap homolog 1 (C. elegans)
Band: 22q12.2
Quick LinksEntrez ID:8508; OMIM: 603249; Uniprot ID:NIPS1_HUMAN; ENSEMBL ID: ENSG00000184117; HGNC ID: 7827
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
51N6-acetyllysine.
146N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
22MethylarginineHMM predict
61Phosphothreonine(CDK)HMM predict
83Phosphotyrosine(EGFR)HMM predict
148Phosphotyrosine(EGFR)HMM predict
261Phosphotyrosine(Syk)HMM predict
274IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003634
  • Location:chr22 28280799-28307325
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28315943 28316212 269 8752
CTCF CD4SISSRdata 28315943 28316212 269 8752
CTCF HelaGSE12889 28316005 28316184 179 8769
CTCF JurkatGSE12889 28315912 28316191 279 8726
CTCF G2GSE9613 28315951 28316187 236 8744
Gata2 K562GSE18868 28308565 28309176 611 1545
USF1 HepG2E 28314502 28315282 780 7567
hScc1 BcellGSE12603 28315951 28316187 236 8744
hScc1 CdLSGSE12603 28315951 28316187 236 8744
p63 keratinocytesGSE17611 28313918 28314739 821 7003
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 28294803 28295158 355 0
H3ac HepG2E 28305817 28306905 1088 0
PHF8 293TGSE20725 28306538 28307732 1194 0
PHF8 HeLaGSE20725 28306546 28307407 861 0
PHF8 Hs68plusFBSGSE20725 28306384 28307421 1037 0
Rb GrowingGSE19898 28283722 28283916 194 0
USF2 HepG2E 28294803 28295330 527 0
hScc1 BcellGSE12603 28285658 28286175 517 0
hScc1 BcellGSE12603 28304462 28304619 157 0
hScc1 BcellGSE12603 28306649 28307076 427 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