AutismKB 2.0

Annotation Detail for SETDB2


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Basic Information Top
Gene Symbol:SETDB2 ( C13orf4,CLLD8,CLLL8,DKFZp586I0123,DKFZp761J1217,KMT1F )
Gene Full Name: SET domain, bifurcated 2
Band: 13q14.2
Quick LinksEntrez ID:83852; OMIM: 607865; Uniprot ID:SETB2_HUMAN; ENSEMBL ID: ENSG00000136169; HGNC ID: 20263
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
45Phosphothreonine(PKC)HMM predict
67Phosphoserine(CK1)HMM predict
67O-linkedHMM predict
81O-linkedHMM predict
93N-linkedHMM predict
96N-linkedHMM predict
101O-linkedHMM predict
106Phosphoserine(CK2)HMM predict
137Phosphoserine(CK1)HMM predict
139N-linkedHMM predict
144PhosphoserineHMM predict
227Phosphotyrosine(INSR)HMM predict
271Phosphotyrosine(Jak)HMM predict
281N-linkedHMM predict
284N-linkedHMM predict
318Phosphoserine(CDC2)HMM predict
406Phosphothreonine(PKC)HMM predict
513Phosphoserine(CK2)HMM predict
515Phosphothreonine(MAPK)HMM predict
515Phosphothreonine(CDC2)HMM predict
541Phosphoserine(CK1)HMM predict
568Phosphothreonine(MAPK)HMM predict
617Phosphoserine(CK1)HMM predict
621N-linkedHMM predict
651N-linkedHMM predict
657N-linkedHMM predict
709S-palmitoylHMM predict
712AsparagineHMM predict
714CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031915
  • Location:chr13 48916510-48964297
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 48915561 48917008 1447 226
H3K4me3 colorectalcancer 48915391 48916036 645 797
P300 T30-glioblastomaGSE21026 48914921 48916902 1981 599
PHF8 HeLaGSE20725 48915635 48917043 1408 172
PHF8 Hs68plusFBSGSE20725 48915247 48916851 1604 462
Rb QuiescentGSE19898 48916059 48916434 375 264
Rb SenescentGSE19898 48915913 48916492 579 308
Rb shRbSenescenceGSE19898 48916135 48916403 268 242
hScc1 BcellGSE12603 48915989 48916776 787 128
p130 QuiescentGSE19898 48915529 48916297 768 598
p130 SenescentGSE19898 48915771 48916520 749 365
p130 shRbQuiescentGSE19898 48915486 48916772 1286 382
p130 shRbSenescentGSE19898 48915855 48916506 651 330
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48915958 48917090 1132 0
H3K4me3 colorectalcancer 48916852 48917454 602 0
H3ac HepG2E 48916956 48917454 498 0
Oct1 H2O2-HelaGSE14283 48956590 48956619 29 0
Oct1 HelaGSE14283 48949869 48949924 55 0
P300 T0-glioblastomaGSE21026 48937154 48937703 549 0
P300 T30-glioblastomaGSE21026 48936889 48937589 700 0
RARG MCF7GSE15244 48916815 48917197 382 0
TAF k562GSE8489 48916852 48917454 602 0
hScc1 CdLSGSE12603 48916354 48917454 1100 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