AutismKB 2.0

Annotation Detail for SERPINA3


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Basic Information Top
Gene Symbol:SERPINA3 ( AACT,ACT,GIG25,MGC88254 )
Gene Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Band: 14q32.13
Quick LinksEntrez ID:12; OMIM: 107280; Uniprot ID:AACT_HUMAN; ENSEMBL ID: ENSG00000196136; HGNC ID: 16
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
33N-linked (GlcNAc...).
93N-linked (GlcNAc...).
106N-linked (GlcNAc...).
127N-linked (GlcNAc...).
186N-linked (GlcNAc...).
271N-linked (GlcNAc...).
Location(AA) Modifications Resource
33N-linked (GlcNAc...).Swiss-Prot 53.0
93N-linked (GlcNAc...).Swiss-Prot 53.0
106N-linked (GlcNAc...).Swiss-Prot 53.0
127N-linked (GlcNAc...).Swiss-Prot 53.0
186N-linked (GlcNAc...).Swiss-Prot 53.0
271N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
33N-linkedHMM predict
38N-linkedHMM predict
76Phosphoserine(CDC2)HMM predict
93N-linkedHMM predict
106N-linkedHMM predict
111Phosphoserine(CK2)HMM predict
118Phosphoserine(CDK)HMM predict
127N-linkedHMM predict
186N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001085
  • Location:chr14 94148466-94160141
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 94146600 94147335 735 1499
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 94160129 94160426 297 136
Oct1 H2O2-HelaGSE14283 94161149 94161189 40 1028
Oct1 HelaGSE14283 94161153 94161188 35 1029
RARG MCF7GSE15244 94166912 94167139 227 6884
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 94148263 94150132 1869 0
TFAP2C MCF7GSE21234 94148315 94149800 1485 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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