AutismKB 2.0

Annotation Detail for STXBP5L


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Basic Information Top
Gene Symbol:STXBP5L ( KIAA1006,LLGL4 )
Gene Full Name: syntaxin binding protein 5-like
Band: 3q13.33
Quick LinksEntrez ID:9515; OMIM: 609381; Uniprot ID:STB5L_HUMAN; ENSEMBL ID: ENSG00000145087; HGNC ID: 30757
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
589Phosphoserine (By similarity).
591Phosphoserine (By similarity).
594Phosphothreonine (By similarity).
599Phosphoserine (By similarity).
Location(AA) Modifications Resource
589Phosphoserine (By similarity).Swiss-Prot 53.0
591Phosphoserine (By similarity).Swiss-Prot 53.0
594Phosphothreonine (By similarity).Swiss-Prot 53.0
599Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
17Phosphoserine(CDC2)HMM predict
20Phosphoserine(CK2)HMM predict
20Phosphoserine(IKK)HMM predict
20O-linkedHMM predict
22Phosphoserine(IKK)HMM predict
24O-linkedHMM predict
26Phosphoserine(CK1)HMM predict
26Phosphoserine(IKK)HMM predict
34O-linkedHMM predict
217Phosphoserine(ATM)HMM predict
230N-linkedHMM predict
273Phosphoserine(CK1)HMM predict
281Phosphoserine(CDC2)HMM predict
281Phosphoserine(CDK)HMM predict
283PhosphoserineHMM predict
376Phosphotyrosine(Abl)HMM predict
441Phosphotyrosine(INSR)HMM predict
460Phosphotyrosine(EGFR)HMM predict
574Phosphoserine(CDK)HMM predict
574O-linkedHMM predict
589Phosphoserine(IKK)HMM predict
589Phosphoserine(CK1)HMM predict
591Phosphoserine(CK1)HMM predict
591Phosphoserine(IKK)HMM predict
649O-linkedHMM predict
694Phosphoserine(CDC2)HMM predict
694Phosphoserine(CDK)HMM predict
733N-linkedHMM predict
735Phosphoserine(CDC2)HMM predict
746Phosphoserine(IKK)HMM predict
746Phosphoserine(CDC2)HMM predict
748Phosphothreonine(PKA)HMM predict
758Phosphoserine(MAPK)HMM predict
758Phosphoserine(IKK)HMM predict
763Phosphoserine(IKK)HMM predict
766Phosphoserine(CK1)HMM predict
814N-linkedHMM predict
818Phosphoserine(CK1)HMM predict
820Phosphoserine(IKK)HMM predict
820Phosphoserine(CK1)HMM predict
845N-linkedHMM predict
936N-linkedHMM predict
941Phosphoserine(ATM)HMM predict
962Phosphoserine(CK1)HMM predict
973N-linkedHMM predict
993S-palmitoylHMM predict
1109O-linkedHMM predict
1121Phosphoserine(IKK)HMM predict
1126O-linkedHMM predict
1168Phosphoserine(CK1)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