AutismKB 2.0

Annotation Detail for NSF


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Basic Information Top
Gene Symbol:NSF ( SKD2 )
Gene Full Name: N-ethylmaleimide-sensitive factor
Band: 17q21.31
Quick LinksEntrez ID:4905; OMIM: 601633; Uniprot ID:NSF_HUMAN; ENSEMBL ID: ENSG00000073969; HGNC ID: 8016
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
259Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
83Phosphotyrosine (Fer;Fes)Phospho.ELM 6.0
Location(AA) Modification Resource
31Phosphoserine(CDK)HMM predict
112Phosphotyrosine(Syk)HMM predict
201Phosphothreonine(PKC)HMM predict
339Phosphoserine(IKK)HMM predict
435N-linkedHMM predict
547Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006178
  • Location:chr17 42023397-42189992
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42023028 42023434 406 167
H3ac HepG2E 42018023 42019642 1619 4565
H3ac HepG2E 42022656 42023101 445 519
TAF k562GSE8489 42022319 42023179 860 649
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 42190952 42191428 476 1198
FoxA1 MCF7MACSdata 42191177 42191470 293 1331
P300 T30-glioblastomaGSE21026 42191036 42191784 748 1418
RARA MCF7GSE15244 42190551 42191428 877 997
USF1 HepG2E 42190029 42190200 171 122
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 42175371 42175878 507 0
H3K4me2 HCT116GSE10453 42023911 42025105 1194 0
H3K4me3 colorectalcancer 42023879 42024487 608 0
H3ac HepG2E 42023735 42025105 1370 0
H3ac HepG2E 42154272 42154782 510 0
Myc K562GSE19551 42175335 42175787 452 0
NRSF JurkatGSE13047 42065062 42065175 113 0
NRSF JurkatSISSRdata 42065056 42065162 106 0
NRSF mAbJurkat 42061757 42062511 754 0
NRSF mAbJurkat 42062980 42063570 590 0
NRSF mAbJurkat 42064195 42065142 947 0
NRSF mAbJurkat 42067536 42069507 1971 0
NRSF-mono JurkatQuESTdata 42065067 42065161 94 0
NRSF-poly JurkatQuESTdata 42065060 42065175 115 0
Oct1 H2O2-HelaGSE14283 42072396 42072435 39 0
Oct1 H2O2-HelaGSE14283 42111458 42111498 40 0
Oct1 HelaGSE14283 42072406 42072435 29 0
Oct1 HelaGSE14283 42111458 42111498 40 0
Oct4 hESGSE17917 42165394 42165616 222 0
PAX3-FKHR Rh4GSE19063 42104481 42105870 1389 0
TAF k562GSE8489 42023879 42025105 1226 0
TAF k562GSE8489 42154036 42154645 609 0
hScc1 BcellGSE12603 42061828 42062264 436 0
hScc1 BcellGSE12603 42075067 42075452 385 0
hScc1 BcellGSE12603 42084698 42085243 545 0
hScc1 CdLSGSE12603 42061757 42062088 331 0
Validated miRNA targets Top
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
11275 mRNA NSF chr17 42023397 42189993 773 EST chr17 42189133 42189981Sense/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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