AutismKB 2.0

Annotation Detail for RCBTB2


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Basic Information Top
Gene Symbol:RCBTB2 ( CHC1L )
Gene Full Name: regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
Band: 13q14.2
Quick LinksEntrez ID:1102; OMIM: 603524; Uniprot ID:RCBT2_HUMAN; ENSEMBL ID: ENSG00000136161; HGNC ID: 1914
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
60Phosphotyrosine(Abl)HMM predict
133N-linkedHMM predict
137N-linkedHMM predict
179N-linkedHMM predict
180N-linkedHMM predict
199Phosphothreonine(PKA)HMM predict
293N-linkedHMM predict
296N-linkedHMM predict
318Phosphoserine(IKK)HMM predict
321O-linkedHMM predict
456Phosphoserine(ATM)HMM predict
456Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001268
  • Location:chr13 47961101-48005316
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 48012995 48013025 30 7694
Oct1 H2O2-HelaGSE14283 48024960 48024988 28 19658
Oct1 HelaGSE14283 48012992 48013049 57 7704
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47965580 47965885 305 0
CTCF G2GSE9613 47979204 47979407 203 0
H3K4me3 colorectalcancer 48003920 48004672 752 0
H3ac HepG2E 48003920 48004672 752 0
HIF1 HypoHepG2 48004604 48005061 457 0
Myc K562GSE19551 47964640 47964998 358 0
Oct1 H2O2-HelaGSE14283 48002177 48002224 47 0
Oct1 HelaGSE14283 48002177 48002224 47 0
P300 T0-glioblastomaGSE21026 47965917 47966677 760 0
PHF8 293TGSE20725 48004469 48005628 1159 0
PHF8 HeLaGSE20725 48004519 48005607 1088 0
PHF8 Hs68minusFBSGSE20725 48004239 48005615 1376 0
PHF8 Hs68plusFBSGSE20725 48003950 48005819 1869 0
Rb GrowingGSE19898 47973232 47973372 140 0
Rb SenescentGSE19898 48004854 48005415 561 0
TAF k562GSE8489 48003999 48004484 485 0
hScc1 BcellGSE12603 47964307 47965082 775 0
hScc1 BcellGSE12603 47977645 47978426 781 0
hScc1 BcellGSE12603 48004980 48005366 386 0
hScc1 CdLSGSE12603 47964122 47965616 1494 0
hScc1 CdLSGSE12603 47976799 47978531 1732 0
hScc1 CdLSGSE12603 48004380 48005886 1506 0
p130 QuiescentGSE19898 48004369 48004824 455 0
p130 QuiescentGSE19898 48004901 48005503 602 0
p130 SenescentGSE19898 48004297 48004816 519 0
p130 SenescentGSE19898 48004868 48005261 393 0
p130 shRbQuiescentGSE19898 48004300 48005312 1012 0
p130 shRbSenescentGSE19898 48004212 48005367 1155 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