AutismKB 2.0

Annotation Detail for NUP50


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Basic Information Top
Gene Symbol:NUP50 ( MGC39961,NPAP60,NPAP60L )
Gene Full Name: nucleoporin 50kDa
Band: 22q13.31
Quick LinksEntrez ID:10762; OMIM: 604646; Uniprot ID:NUP50_HUMAN; ENSEMBL ID: ENSG00000093000; HGNC ID: 8065
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
83N6-acetyllysine.
115Phosphoserine (By similarity).
219Phosphothreonine.
221Phosphoserine.
Location(AA) Modifications Resource
221Phosphoserine.Swiss-Prot 53.0
221PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
93N-linkedHMM predict
137Phosphoserine(ATM)HMM predict
143O-linkedHMM predict
143Phosphoserine(ATM)HMM predict
164N-linkedHMM predict
208Phosphoserine(PKG)HMM predict
223O-linkedHMM predict
241N-linkedHMM predict
246Phosphothreonine(CDC2)HMM predict
246Phosphothreonine(MAPK)HMM predict
246PhosphothreonineHMM predict
263O-linkedHMM predict
267O-linkedHMM predict
280Phosphoserine(IKK)HMM predict
284Phosphoserine(IKK)HMM predict
296Phosphoserine(CDC2)HMM predict
299N-linkedHMM predict
310O-linkedHMM predict
315O-linkedHMM predict
315Phosphoserine(CDC2)HMM predict
438N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007172
  • Location:chr22 43938389-43962551
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 43937652 43938935 1283 96
PHF8 293TGSE20725 43937627 43939054 1427 49
PHF8 HeLaGSE20725 43937506 43939029 1523 122
Rb QuiescentGSE19898 43937710 43937956 246 557
Rb QuiescentGSE19898 43938206 43938516 310 29
Rb SenescentGSE19898 43938153 43938575 422 26
Rb shRbSenescenceGSE19898 43928993 43929191 198 9298
hScc1 BcellGSE12603 43937747 43938825 1078 104
p130 QuiescentGSE19898 43938161 43938569 408 25
p130 SenescentGSE19898 43938117 43938564 447 49
p130 shRbQuiescentGSE19898 43938059 43938504 445 108
p130 shRbSenescentGSE19898 43938087 43938562 475 65
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 43938245 43938559 314 0
Rb QuiescentGSE19898 43938848 43939011 163 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


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