AutismKB 2.0

Annotation Detail for SAT1


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Basic Information Top
Gene Symbol:SAT1 ( DC21,KFSD,KFSDX,SAT,SSAT,SSAT-1 )
Gene Full Name: spermidine/spermine N1-acetyltransferase 1
Band: Xp22.11
Quick LinksEntrez ID:6303; OMIM: 313020; Uniprot ID:SAT1_HUMAN; ENSEMBL ID: ENSG00000130066; HGNC ID: 10540
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26N6-acetyllysine.
Location(AA) Modifications Resource
10Phosphothreonine (CK2
146Phosphoserine (CK2
149Phosphoserine (CK2
Location(AA) Modification Resource
27SulfotyrosineHMM predict
29Phosphotyrosine(INSR)HMM predict
65Phosphothreonine(CDC2)HMM predict
149Phosphoserine(CK1)HMM predict
150Phosphoserine(CK1)HMM predict
159IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002970
  • Location:chrX 23711224-23714245
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23710905 23711182 277 181
CTCF CD4SISSRdata 23710905 23711182 277 181
CTCF G2GSE9613 23710832 23711233 401 192
STAT1 HeLaGSE12782 23701082 23702315 1233 9526
STAT1 HeLaGSE12783 23701116 23702281 1165 9526
STAT1 HeLaGSE12783 23708758 23710217 1459 1737
STAT1 IFNSISSRdata 23701457 23702133 676 9430
hScc1 BcellGSE12603 23710832 23711455 623 81
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARA MCF7GSE15244 23725420 23725894 474 11412
TFAP2C MCF7GSE21234 23731967 23732358 391 17917
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 23712009 23713808 1799 0
PHF8 293TGSE20725 23710976 23711805 829 0
PHF8 Hs68plusFBSGSE20725 23710813 23711887 1074 0
Pol2 GM12878GSE19551 23710931 23711605 674 0
PolII HeLaGSE12783 23710747 23714983 4236 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-519d hsa-mir-519d 19 20057369
No data
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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