AutismKB 2.0

Annotation Detail for STXBP3


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Basic Information Top
Gene Symbol:STXBP3 ( MUNC18-3,MUNC18C,PSP,UNC-18C )
Gene Full Name: syntaxin binding protein 3
Band: 1p13.3
Quick LinksEntrez ID:6814; OMIM: 608339; Uniprot ID:STXB3_HUMAN; ENSEMBL ID: ENSG00000116266; HGNC ID: 11446
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
198Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
103Phosphotyrosine(Syk)HMM predict
103Phosphotyrosine(SRC)HMM predict
137N-linkedHMM predict
145Phosphoserine(ATM)HMM predict
218Phosphotyrosine(INSR)HMM predict
219SulfotyrosineHMM predict
219Phosphotyrosine(Syk)HMM predict
266N-linkedHMM predict
323O-linkedHMM predict
416N-linkedHMM predict
422N-linkedHMM predict
453Phosphoserine(ATM)HMM predict
492Phosphoserine(CK1)HMM predict
506N-linkedHMM predict
512O-linkedHMM predict
527N-linkedHMM predict
551Phosphoserine(ATM)HMM predict
568Phosphothreonine(CDK)HMM predict
576IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007269
  • Location:chr1 109090830-109153670
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 109090473 109090984 511 102
CTCF CD4SISSRdata 109090473 109090984 511 102
CTCF HelaGSE12889 109090504 109090888 384 135
CTCF G2GSE9613 109090422 109090709 287 265
Oct4 hESGSE17917 109090551 109090945 394 83
TFAP2C MCF7GSE21234 109090477 109091143 666 21
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 109155992 109156142 150 2397
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 109091300 109091617 317 0
Oct1 HelaGSE14283 109138767 109138807 40 0
PHF8 293TGSE20725 109090437 109091893 1456 0
PHF8 HeLaGSE20725 109090315 109091693 1378 0
PHF8 Hs68minusFBSGSE20725 109090500 109091748 1248 0
PHF8 Hs68plusFBSGSE20725 109090452 109091952 1500 0
TAF k562GSE8489 109091300 109091945 645 0
TAF k562GSE8489 109122330 109122548 218 0
p130 SenescentGSE19898 109090591 109091150 559 0
p130 shRbQuiescentGSE19898 109090757 109091285 528 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