AutismKB 2.0

Annotation Detail for SIT1


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Basic Information Top
Gene Symbol:SIT1 ( MGC125908,MGC125909,MGC125910,RP11-331F9.5,SIT )
Gene Full Name: signaling threshold regulating transmembrane adaptor 1
Band: 9p13.3
Quick LinksEntrez ID:27240; OMIM: 604964; Uniprot ID:SIT1_HUMAN; ENSEMBL ID: ENSG00000137078; HGNC ID: 17710
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26N-linked (GlcNAc...).
80Phosphoserine.
83Phosphoserine.
90Phosphotyrosine.
95Phosphotyrosine.
98Phosphothreonine.
102Phosphoserine.
127Phosphotyrosine (Probable).
144Phosphothreonine.
148Phosphotyrosine.
149Phosphoserine.
169Phosphotyrosine (Probable).
182Phosphoserine.
188Phosphotyrosine.
Location(AA) Modifications Resource
26N-linked (GlcNAc...).Swiss-Prot 53.0
80Phosphoserine.Swiss-Prot 53.0
80PhosphoserinePhospho.ELM 6.0
83Phosphoserine.Swiss-Prot 53.0
83PhosphoserinePhospho.ELM 6.0
90Phosphotyrosine.Swiss-Prot 53.0
90PhosphotyrosinePhospho.ELM 6.0
95Phosphotyrosine.Swiss-Prot 53.0
95PhosphotyrosinePhospho.ELM 6.0
98PhosphothreoninePhospho.ELM 6.0
98Phosphothreonine.Swiss-Prot 53.0
102PhosphoserinePhospho.ELM 6.0
102Phosphoserine.Swiss-Prot 53.0
127Phosphotyrosine (Probable).Swiss-Prot 53.0
127PhosphotyrosinePhospho.ELM 6.0
144Phosphothreonine.Swiss-Prot 53.0
144PhosphothreoninePhospho.ELM 6.0
148PhosphotyrosinePhospho.ELM 6.0
148Phosphotyrosine.Swiss-Prot 53.0
149Phosphoserine.Swiss-Prot 53.0
149PhosphoserinePhospho.ELM 6.0
169PhosphotyrosinePhospho.ELM 6.0
169Phosphotyrosine (Probable).Swiss-Prot 53.0
182PhosphoserinePhospho.ELM 6.0
182Phosphoserine.Swiss-Prot 53.0
188PhosphotyrosinePhospho.ELM 6.0
188Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
26N-linkedHMM predict
98Phosphothreonine(PKC)HMM predict
102Phosphoserine(PKG)HMM predict
102Phosphoserine(ATM)HMM predict
144Phosphothreonine(CDK)HMM predict
144Phosphothreonine(CDC2)HMM predict
144PhosphothreonineHMM predict
159Phosphoserine(ATM)HMM predict
159Phosphoserine(IKK)HMM predict
162Phosphoserine(IKK)HMM predict
176Phosphothreonine(PKC)HMM predict
182Phosphoserine(IKK)HMM predict
188Phosphotyrosine(Syk)HMM predict
191Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014450
  • Location:chr9 35639296-35640946
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 35636113 35641720 5607 380
CTCF CD4GSE12889 35636788 35637057 269 2374
CTCF CD4SISSRdata 35636788 35637057 269 2374
ETS1 JurkatGSE17954 35635906 35638331 2425 2178
PHF8 293TGSE20725 35636318 35637333 1015 2471
hScc1 BcellGSE12603 35636756 35637245 489 2296
hScc1 CdLSGSE12603 35636188 35637282 1094 2562
p130 QuiescentGSE19898 35636657 35637113 456 2412
p130 shRbQuiescentGSE19898 35636425 35637147 722 2511
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 HypoHepG2 35640412 35641086 674 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