AutismKB 2.0

Annotation Detail for STXBP1


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Basic Information Top
Gene Symbol:STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 )
Gene Full Name: syntaxin binding protein 1
Band: 9q34.11
Quick LinksEntrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854; HGNC ID: 11444
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
107Phosphothreonine (By similarity).
142Phosphoserine (By similarity).
145Phosphotyrosine (By similarity).
146Phosphoserine (By similarity).
345Phosphoserine (By similarity).
346Phosphothreonine (By similarity).
473Phosphotyrosine.
507Phosphoserine (By similarity).
509Phosphoserine (By similarity).
Location(AA) Modifications Resource
107Phosphothreonine (By similarity).Swiss-Prot 53.0
142Phosphoserine (By similarity).Swiss-Prot 53.0
145Phosphotyrosine (By similarity).Swiss-Prot 53.0
146Phosphoserine (By similarity).Swiss-Prot 53.0
345Phosphoserine (By similarity).Swiss-Prot 53.0
346Phosphothreonine (By similarity).Swiss-Prot 53.0
473Phosphotyrosine.Swiss-Prot 53.0
507Phosphoserine (By similarity).Swiss-Prot 53.0
509Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
48Phosphothreonine(PKA)HMM predict
142Phosphoserine(ATM)HMM predict
158Phosphoserine(CDK)HMM predict
195Phosphotyrosine(INSR)HMM predict
241Phosphoserine(MAPK)HMM predict
264Phosphotyrosine(SRC)HMM predict
300Phosphoserine(ATM)HMM predict
323Phosphothreonine(PKC)HMM predict
342Phosphoserine(CK1)HMM predict
361Phosphothreonine(PKC)HMM predict
460Phosphoserine(PKA)HMM predict
460Phosphoserine(PKG)HMM predict
460Phosphoserine(PKC)HMM predict
473Phosphotyrosine(SRC)HMM predict
507O-linkedHMM predict
509O-linkedHMM predict
509Phosphoserine(IKK)HMM predict
511O-linkedHMM predict
512O-linkedHMM predict
513O-linkedHMM predict
574Phosphothreonine(CDK)HMM predict
586N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003165
  • Location:chr9 129414388-129494815
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 129409357 129410136 779 4642
PHF8 293TGSE20725 129410239 129411144 905 3697
PHF8 HeLaGSE20725 129413636 129414852 1216 145
Rb QuiescentGSE19898 129414267 129414407 140 52
TFAP2C MCF7GSE21234 129400811 129401867 1056 13050
TFAP2C MCF7GSE21234 129410086 129410697 611 3997
USF1 HepG2E 129409774 129410901 1127 4051
USF1 HepG2E 129411609 129412672 1063 2248
USF2 HepG2E 129409774 129410589 815 4207
hScc1 BcellGSE12603 129410503 129410872 369 3701
p130 shRbSenescentGSE19898 129413928 129414266 338 292
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 129501220 129501961 741 6775
SRF k562GSE8489 129494730 129495035 305 67
TFAP2C MCF7GSE21234 129502329 129503133 804 7916
p130 SGSE7516 129503408 129503703 295 8740
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 129439606 129439858 252 0
Nanog hESGSE18292 129456696 129456940 244 0
SRF k562GSE8489 129429089 129429543 454 0
STAT1 HeLaGSE12782 129438547 129440474 1927 0
STAT1 HeLaGSE12783 129438039 129440407 2368 0
STAT1 IFNSISSRdata 129439322 129440368 1046 0
TFAP2C MCF7GSE21234 129486677 129487261 584 0
TFAP2C MCF7GSE21234 129488419 129489020 601 0
USF1 HepG2E 129466461 129467333 872 0
hScc1 BcellGSE12603 129414076 129414806 730 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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