AutismKB 2.0

Annotation Detail for SEC13


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SEC13 ( D3S1231E,SEC13L1,SEC13R,npp-20 )
Gene Full Name: SEC13 homolog (S. cerevisiae)
Band: 3p25.3
Quick LinksEntrez ID:6396; OMIM: 600152; Uniprot ID:SEC13_HUMAN; ENSEMBL ID: ENSG00000157020; HGNC ID: 10697
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylvaline.
309Phosphoserine.
313Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
10PhosphothreonineHMM predict
90N-linkedHMM predict
235Phosphoserine(ATM)HMM predict
250Phosphoserine(CK1)HMM predict
271Phosphoserine(IKK)HMM predict
309Phosphoserine(IKK)HMM predict
313Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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