AutismKB 2.0

Annotation Detail for NUP133


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Basic Information Top
Gene Symbol:NUP133 ( FLJ10814,MGC21133,hNUP133 )
Gene Full Name: nucleoporin 133kDa
Band: 1q42.13
Quick LinksEntrez ID:55746; OMIM: 607613; Uniprot ID:NU133_HUMAN; ENSEMBL ID: ENSG00000069248; HGNC ID: 18016
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
7Phosphoserine.
10Phosphothreonine.
27Phosphoserine.
28Phosphothreonine.
41Phosphoserine.
45Phosphoserine.
50Phosphoserine.
57Phosphoserine.
131Phosphoserine.
480Phosphoserine.
489Phosphoserine.
501Phosphoserine (By similarity).
Location(AA) Modifications Resource
27Phosphoserine.Swiss-Prot 53.0
27PhosphoserinePhospho.ELM 6.0
28Phosphothreonine.Swiss-Prot 53.0
28PhosphothreoninePhospho.ELM 6.0
45Phosphoserine.Swiss-Prot 53.0
45PhosphoserinePhospho.ELM 6.0
50Phosphoserine.Swiss-Prot 53.0
501Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphoserine(CDK)HMM predict
7Phosphoserine(CDC2)HMM predict
10Phosphothreonine(MAPK)HMM predict
10Phosphothreonine(CDK)HMM predict
10Phosphothreonine(CDC2)HMM predict
15Phosphoserine(PKC)HMM predict
27O-linkedHMM predict
50Phosphoserine(CDC2)HMM predict
57Phosphoserine(PKB)HMM predict
57Phosphoserine(PKG)HMM predict
59O-linkedHMM predict
63Phosphothreonine(CDC2)HMM predict
116S-palmitoylHMM predict
131Phosphoserine(CDK)HMM predict
131Phosphoserine(CDC2)HMM predict
161Phosphoserine(CK1)HMM predict
162Phosphoserine(CDC2)HMM predict
164O-linkedHMM predict
196Phosphotyrosine(EGFR)HMM predict
196Phosphotyrosine(Syk)HMM predict
223Phosphoserine(CK2)HMM predict
227Phosphoserine(ATM)HMM predict
260Phosphoserine(PKG)HMM predict
267Phosphoserine(MAPK)HMM predict
288Phosphoserine(IKK)HMM predict
288O-linkedHMM predict
293N-linkedHMM predict
302Phosphoserine(CK1)HMM predict
303Phosphoserine(CK1)HMM predict
319N-linkedHMM predict
331Phosphotyrosine(Syk)HMM predict
331Phosphotyrosine(SRC)HMM predict
331Phosphotyrosine(INSR)HMM predict
393Phosphotyrosine(Syk)HMM predict
414N-linkedHMM predict
426Phosphotyrosine(Jak)HMM predict
426Phosphotyrosine(EGFR)HMM predict
493Phosphoserine(IKK)HMM predict
510N-linkedHMM predict
546Phosphoserine(CK1)HMM predict
553Phosphoserine(CK1)HMM predict
555Phosphoserine(CK2)HMM predict
661Phosphoserine(CK1)HMM predict
682N-linkedHMM predict
694Phosphoserine(IKK)HMM predict
755Phosphoserine(PKG)HMM predict
755Phosphoserine(PKA)HMM predict
762Phosphotyrosine(SRC)HMM predict
832Phosphotyrosine(INSR)HMM predict
848Phosphoserine(MAPK)HMM predict
896N-linkedHMM predict
916Phosphoserine(ATM)HMM predict
920Phosphoserine(ATM)HMM predict
1057Phosphotyrosine(INSR)HMM predict
1057SulfotyrosineHMM predict
1082N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018230
  • Location:chr1 227643667-227710710
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 227710962 227711889 927 715
H3ac HepG2E 227710781 227712070 1289 715
PHF8 HeLaGSE20725 227710133 227711485 1352 99
Rb QuiescentGSE19898 227710595 227710926 331 50
Rb SenescentGSE19898 227710530 227710940 410 25
TAF HelaGSE8489 227710731 227711998 1267 654
TAF k562GSE8489 227709841 227712813 2972 617
hScc1 BcellGSE12603 227710695 227711032 337 153
p130 shRbSenescentGSE19898 227710342 227711103 761 12
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 227642558 227644176 1618 301
P300 T30-glioblastomaGSE21026 227642785 227644157 1372 197
SRF GMOGSE8489 227642603 227644224 1621 254
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 227684473 227684672 199 0
CTCF CD4SISSRdata 227684473 227684672 199 0
CTCF G2GSE9613 227684408 227685024 616 0
ER Breast-CancerGSE22609 227649871 227650477 606 0
H3K4me3 colorectalcancer 227709211 227710504 1293 0
H3ac HepG2E 227709527 227710504 977 0
HIF1 NormHepG2 227654853 227655380 527 0
LIN9 G0GSE7516 227710312 227711032 720 0
P300 T30-glioblastomaGSE21026 227709826 227711418 1592 0
hScc1 BcellGSE12603 227684343 227684700 357 0
hScc1 CdLSGSE12603 227684343 227685060 717 0
p130 QuiescentGSE19898 227710200 227711083 883 0
p130 SenescentGSE19898 227710236 227711105 869 0
p130 shRbQuiescentGSE19898 227710128 227711221 1093 0
p130 G0GSE7516 227710241 227711113 872 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