AutismKB 2.0

Annotation Detail for SERPINA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SERPINA1 ( A1A,A1AT,AAT,MGC23330,MGC9222,PI,PI1,PRO2275,alpha1AT )
Gene Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Band: 14q32.13
Quick LinksEntrez ID:5265; OMIM: 107400; Uniprot ID:A1AT_HUMAN; ENSEMBL ID: ENSG00000197249; HGNC ID: 8941
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
70N-linked (GlcNAc...) (complex).
107N-linked (GlcNAc...) (complex).
256S-cysteinyl cysteine.
271N-linked (GlcNAc...) (complex).
Location(AA) Modifications Resource
70N-linked (GlcNAc...).Swiss-Prot 53.0
107N-linked (GlcNAc...).Swiss-Prot 53.0
271N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
70N-linkedHMM predict
73N-linkedHMM predict
77Phosphoserine(CDC2)HMM predict
96Phosphothreonine(CK2)HMM predict
107N-linkedHMM predict
227Phosphothreonine(CK2)HMM predict
271N-linkedHMM predict
363Phosphothreonine(PKC)HMM predict
405Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000295
  • Location:chr14 93914450-93924903
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 93909453 93910576 1123 4436
CTCF G2GSE9613 93913988 93914357 369 278
P300 T30-glioblastomaGSE21026 93909406 93910401 995 4547
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 93923472 93925468 1996 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