AutismKB 2.0

Annotation Detail for NCAPH2


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Basic Information Top
Gene Symbol:NCAPH2 ( CAPH2,MGC15858,MGC18000,MGC2455,MGC4133,MGC5305,MGC8640 )
Gene Full Name: non-SMC condensin II complex, subunit H2
Band: 22q13.33
Quick LinksEntrez ID:29781; OMIM: 611230; Uniprot ID:CNDH2_HUMAN; ENSEMBL ID: ENSG00000025770; HGNC ID: 25071
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
95Phosphoserine.
120Phosphoserine.
200Phosphoserine.
208Phosphoserine.
228Phosphoserine.
282Phosphoserine.
284Phosphoserine.
319Phosphoserine.
466Phosphoserine.
492Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014551
  • Location:chr22 49293537-49305045
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM15510GSE19485 49292595 49294242 1647 119
p130 shRbQuiescentGSE19898 49293277 49293781 504 9
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 49293247 49294029 782 0
H3K4me3 colorectalcancer 49294478 49294876 398 0
H3ac HepG2E 49293828 49295185 1357 0
P300 T0-glioblastomaGSE21026 49293331 49293789 458 0
P300 T30-glioblastomaGSE21026 49293368 49294420 1052 0
PHF8 293TGSE20725 49293283 49294090 807 0
PHF8 HeLaGSE20725 49293368 49294229 861 0
Rb GrowingGSE19898 49293419 49293783 364 0
Rb QuiescentGSE19898 49293388 49293884 496 0
Rb SenescentGSE19898 49293344 49294249 905 0
Rb shRbQuiescentGSE19898 49293416 49293791 375 0
Rb shRbSenescenceGSE19898 49293389 49293777 388 0
TAF k562GSE8489 49293912 49295185 1273 0
TAFII hESGSE17917 49293317 49293832 515 0
TFAP2C MCF7GSE21234 49301223 49301862 639 0
hScc1 BcellGSE12603 49304042 49304806 764 0
p130 QuiescentGSE19898 49293400 49294120 720 0
p130 SenescentGSE19898 49293401 49293772 371 0
p130 shRbSenescentGSE19898 49293312 49293955 643 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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