AutismKB 2.0

Annotation Detail for NUP35


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Basic Information Top
Gene Symbol:NUP35 ( MP44,NP44,NUP53 )
Gene Full Name: nucleoporin 35kDa
Band: 2q32.1
Quick LinksEntrez ID:129401; OMIM: 608140; Uniprot ID:NUP53_HUMAN; ENSEMBL ID: ENSG00000163002; HGNC ID: 29797
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
66Phosphoserine.
73Phosphoserine.
99Phosphoserine.
100Phosphoserine.
106Phosphothreonine.
121Phosphoserine.
128Phosphoserine.
129Phosphothreonine.
138Phosphoserine.
259Phosphoserine.
265Phosphothreonine.
273Phosphothreonine.
275Phosphothreonine.
279Phosphoserine.
280Phosphothreonine.
308Phosphothreonine.
Location(AA) Modifications Resource
73Phosphoserine.Swiss-Prot 53.0
73PhosphoserinePhospho.ELM 6.0
273Phosphothreonine.Swiss-Prot 53.0
279Phosphoserine.Swiss-Prot 53.0
280Phosphothreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
25Phosphoserine(CDC2)HMM predict
25Phosphoserine(ATM)HMM predict
25Phosphoserine(MAPK)HMM predict
48Phosphothreonine(CDC2)HMM predict
48Phosphothreonine(CDK)HMM predict
48Phosphothreonine(MAPK)HMM predict
53Phosphoserine(IKK)HMM predict
55O-linkedHMM predict
55Phosphoserine(PKB)HMM predict
73O-linkedHMM predict
93Phosphoserine(PKA)HMM predict
100Phosphoserine(MAPK)HMM predict
110O-linkedHMM predict
127O-linkedHMM predict
127O-linkedHMM predict
128O-linkedHMM predict
129O-linkedHMM predict
138Phosphoserine(ATM)HMM predict
138Phosphoserine(CDC2)HMM predict
151Phosphoserine(CDC2)HMM predict
159Phosphotyrosine(Jak)HMM predict
167Phosphoserine(CK1)HMM predict
261O-linkedHMM predict
279O-linkedHMM predict
284O-linkedHMM predict
285Phosphothreonine(PKC)HMM predict
300Phosphotyrosine(INSR)HMM predict
300Phosphotyrosine(Syk)HMM predict
308Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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