AutismKB 2.0

Annotation Detail for NUCB2


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Basic Information Top
Gene Symbol:NUCB2 ( NEFA )
Gene Full Name: nucleobindin 2
Band: 11p15.1
Quick LinksEntrez ID:4925; OMIM: 608020; Uniprot ID:NUCB2_HUMAN; ENSEMBL ID: ENSG00000070081; HGNC ID: 8044
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
257Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
53SulfotyrosineHMM predict
54SulfotyrosineHMM predict
89Phosphoserine(PKG)HMM predict
164Phosphoserine(CK2)HMM predict
180Phosphotyrosine(INSR)HMM predict
180Phosphotyrosine(Syk)HMM predict
205Phosphoserine(CK2)HMM predict
343Phosphothreonine(CK2)HMM predict
350Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005013
  • Location:chr11 17254861-17309644
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 17252711 17256428 3717 292
ER E2-MCF7GSE14664 17237580 17237646 66 17249
Fos K562GSE19551 17254236 17255212 976 138
P300 T30-glioblastomaGSE21026 17245545 17246142 597 9018
PHF8 HeLaGSE20725 17254255 17255376 1121 46
Rb QuiescentGSE19898 17254093 17254994 901 318
STAT1 IFNSISSRdata 17245522 17246139 617 9031
TFAP2C MCF7GSE21234 17254275 17254818 543 315
p130 QuiescentGSE19898 17254157 17254794 637 386
p130 SenescentGSE19898 17254206 17254741 535 388
p130 shRbQuiescentGSE19898 17254037 17254700 663 493
p130 shRbSenescentGSE19898 17254104 17255079 975 270
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 17310469 17310503 34 842
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 17292216 17293009 793 0
ER E2-MCF7GSE14664 17270822 17270879 57 0
H3ac HepG2E 17255328 17255805 477 0
Oct1 H2O2-HelaGSE14283 17269987 17270027 40 0
Oct1 HelaGSE14283 17260793 17260826 33 0
P300 T30-glioblastomaGSE21026 17292192 17293039 847 0
PHF8 293TGSE20725 17254231 17255623 1392 0
Rb shRbSenescenceGSE19898 17292534 17292739 205 0
USF1 HepG2E 17262440 17262657 217 0
p63 keratinocytesGSE17611 17278243 17279051 808 0
p63 keratinocytesGSE17611 17291931 17292826 895 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