AutismKB 2.0

Annotation Detail for NAPB


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Basic Information Top
Gene Symbol:NAPB ( MGC26066,MGC48335,SNAP-BETA,SNAPB )
Gene Full Name: N-ethylmaleimide-sensitive factor attachment protein, beta
Band: 20p11.21
Quick LinksEntrez ID:63908; OMIM: 611270; Uniprot ID:SNAB_HUMAN; ENSEMBL ID: ENSG00000125814; HGNC ID: 15751
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
203N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
57N-linkedHMM predict
63N-linkedHMM predict
111SulfotyrosineHMM predict
111Phosphotyrosine(Jak)HMM predict
151Phosphotyrosine(Jak)HMM predict
152Phosphotyrosine(Jak)HMM predict
152Phosphotyrosine(Syk)HMM predict
158N-linkedHMM predict
162N-linkedHMM predict
228Phosphotyrosine(Syk)HMM predict
259Phosphotyrosine(INSR)HMM predict
259Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022080
  • Location:chr20 23303165-23350080
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 23349697 23350664 967 100
P300 T30-glioblastomaGSE21026 23349597 23350635 1038 36
hScc1 BcellGSE12603 23353736 23354088 352 3832
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 23348030 23349148 1118 0
Nanog hESGSE18292 23320408 23320810 402 0
PHF8 HeLaGSE20725 23349449 23350431 982 0
Rb GrowingGSE19898 23333240 23333366 126 0
Sox2 hESGSE18292 23320159 23320848 689 0
hScc1 BcellGSE12603 23349813 23350198 385 0
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