AutismKB 2.0

Annotation Detail for SETDB1


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Basic Information Top
Gene Symbol:SETDB1 ( ESET,H3-K9-HMTase4,KG1T,KIAA0067,KMT1E )
Gene Full Name: SET domain, bifurcated 1
Band: 1q21.3
Quick LinksEntrez ID:9869; OMIM: 604396; Uniprot ID:SETB1_HUMAN; ENSEMBL ID: ENSG00000143379; HGNC ID: 10761
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
175Phosphoserine.
838Phosphothreonine.
1066Phosphoserine.
1179Phosphoserine.
1180Phosphothreonine.
1190Phosphoserine.
Location(AA) Modifications Resource
838Phosphothreonine.Swiss-Prot 53.0
838PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
110Phosphoserine(CK2)HMM predict
111Phosphoserine(PKB)HMM predict
112Phosphoserine(IKK)HMM predict
112Phosphoserine(CK2)HMM predict
112PhosphoserineHMM predict
117Phosphoserine(CK1)HMM predict
134Phosphoserine(CK1)HMM predict
144Phosphothreonine(MAPK)HMM predict
177Phosphoserine(ATM)HMM predict
186Phosphoserine(ATM)HMM predict
249SulfotyrosineHMM predict
284Phosphothreonine(CDC2)HMM predict
404Phosphoserine(PKG)HMM predict
439O-linkedHMM predict
454O-linkedHMM predict
454O-linkedHMM predict
454O-linkedHMM predict
468Phosphoserine(MAPK)HMM predict
468Phosphoserine(ATM)HMM predict
468O-linkedHMM predict
478Phosphoserine(CK1)HMM predict
478Phosphoserine(IKK)HMM predict
504Phosphoserine(IKK)HMM predict
504O-linkedHMM predict
505Phosphoserine(CDK)HMM predict
505Phosphoserine(ATM)HMM predict
505Phosphoserine(CDC2)HMM predict
505PhosphoserineHMM predict
505Phosphoserine(IKK)HMM predict
507O-linkedHMM predict
507Phosphothreonine(PKC)HMM predict
508Phosphoserine(CDC2)HMM predict
508Phosphoserine(MAPK)HMM predict
508Phosphoserine(IKK)HMM predict
523N-linkedHMM predict
528Phosphoserine(CDK)HMM predict
528Phosphoserine(CDC2)HMM predict
532O-linkedHMM predict
535Phosphoserine(IKK)HMM predict
535O-linkedHMM predict
540O-linkedHMM predict
573Phosphotyrosine(Jak)HMM predict
612Phosphothreonine(PKC)HMM predict
612Phosphothreonine(PKA)HMM predict
673Phosphotyrosine(Syk)HMM predict
708Phosphoserine(CK1)HMM predict
751O-linkedHMM predict
878Phosphoserine(CK1)HMM predict
893Phosphoserine(CK2)HMM predict
905Phosphoserine(CK2)HMM predict
905Phosphoserine(CK1)HMM predict
906PhosphoserineHMM predict
906Phosphoserine(CK2)HMM predict
917Phosphoserine(CK1)HMM predict
931Phosphothreonine(PKC)HMM predict
944Phosphoserine(CK1)HMM predict
976Phosphothreonine(MAPK)HMM predict
976Phosphothreonine(CDC2)HMM predict
989Phosphoserine(CK1)HMM predict
1045Phosphothreonine(CK2)HMM predict
1061SulfotyrosineHMM predict
1064N-linkedHMM predict
1066Phosphoserine(CDC2)HMM predict
1066Phosphoserine(CDK)HMM predict
1078Phosphoserine(IKK)HMM predict
1081Phosphoserine(IKK)HMM predict
1094Phosphoserine(CK2)HMM predict
1094Phosphoserine(IKK)HMM predict
1114Phosphothreonine(PKC)HMM predict
1115O-linkedHMM predict
1124O-linkedHMM predict
1126O-linkedHMM predict
1140Phosphoserine(CK2)HMM predict
1150N-linkedHMM predict
1152Phosphothreonine(PKA)HMM predict
1197Phosphothreonine(PKC)HMM predict
1197Phosphothreonine(PKA)HMM predict
1223N-linkedHMM predict
1229N-linkedHMM predict
1279S-palmitoylHMM predict
1280S-palmitoylHMM predict
1281S-palmitoylHMM predict
1284IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012432
  • Location:chr1 149165511-149203833
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 149161648 149161916 268 3730
CTCF CD4SISSRdata 149161648 149161916 268 3730
ETS1 JurkatGSE17954 149165036 149165922 886 33
Nanog hESGSE18292 149151845 149152092 247 13543
P300 T30-glioblastomaGSE21026 149164833 149166007 1174 92
RARA MCF7GSE15244 149145436 149146224 788 19682
RARA MCF7GSE15244 149164957 149165329 372 369
USF1 HepG2E 149164957 149165818 861 124
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 149175358 149175709 351 0
H3ac HepG2E 149164957 149166204 1247 0
H3ac HepG2E 149166860 149167116 256 0
Oct1 H2O2-HelaGSE14283 149189072 149189113 41 0
Oct1 HelaGSE14283 149189076 149189113 37 0
Oct1 HelaGSE14283 149197018 149197047 29 0
RARA MCF7GSE15244 149200840 149201242 402 0
RARG MCF7GSE15244 149200980 149201242 262 0
TFAP2C MCF7GSE21234 149200995 149201549 554 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
1550 mRNA SETDB1 chr1 147711960 147750284 618 EST chr1 147746131 147752411Sense/Antisense (SA) pairs

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