AutismKB 2.0

Annotation Detail for KHDRBS3


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Basic Information Top
Gene Symbol:KHDRBS3 ( Etle,SALP,SLM-2,SLM2,T-STAR,TSTAR,etoile )
Gene Full Name: KH domain containing, RNA binding, signal transduction associated 3
Band: 8q24.23
Quick LinksEntrez ID:10656; OMIM: 610421; Uniprot ID:KHDR3_HUMAN; ENSEMBL ID: ENSG00000131773; HGNC ID: 18117
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
5Phosphotyrosine.
Location(AA) Modifications Resource
5Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphotyrosine(Jak)HMM predict
45Phosphotyrosine(INSR)HMM predict
45Phosphotyrosine(EGFR)HMM predict
191Phosphothreonine(PKC)HMM predict
222Phosphothreonine(MAPK)HMM predict
224Phosphothreonine(MAPK)HMM predict
239MethylarginineHMM predict
243Phosphothreonine(MAPK)HMM predict
254Phosphotyrosine(Syk)HMM predict
254Phosphotyrosine(Abl)HMM predict
271SulfotyrosineHMM predict
275Phosphotyrosine(INSR)HMM predict
275Phosphotyrosine(Syk)HMM predict
284Phosphotyrosine(Syk)HMM predict
284SulfotyrosineHMM predict
287SulfotyrosineHMM predict
291Phosphotyrosine(INSR)HMM predict
291Phosphotyrosine(Syk)HMM predict
292Phosphoserine(CK1)HMM predict
301SulfotyrosineHMM predict
304SulfotyrosineHMM predict
313Phosphotyrosine(Syk)HMM predict
313Phosphotyrosine(INSR)HMM predict
313Phosphotyrosine(SRC)HMM predict
316SulfotyrosineHMM predict
330PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006558
  • Location:chr8 136538897-136729027
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 136533854 136534021 167 4960
CTCF CD4SISSRdata 136533854 136534021 167 4960
CTCF HelaGSE12889 136533822 136534085 263 4944
NRSF JurkatGSE13047 136528375 136529055 680 10183
NRSF-mono JurkatQuESTdata 136528446 136529054 608 10148
NRSF-poly JurkatQuESTdata 136528413 136529012 599 10185
PHF8 293TGSE20725 136538215 136539312 1097 134
PHF8 HeLaGSE20725 136538015 136539540 1525 120
RARG MCF7GSE15244 136535881 136536223 342 2846
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 136539830 136540230 400 0
H3ac HepG2E 136540155 136540581 426 0
KLF4 hESGSE17917 136550065 136550229 164 0
NRSF pAbJurkat 136538669 136540362 1693 0
Nanog ESGSE20650 136600482 136600876 394 0
hScc1 BcellGSE12603 136538623 136539355 732 0
hScc1 BcellGSE12603 136547315 136547625 310 0
hScc1 CdLSGSE12603 136538623 136539250 627 0
hScc1 CdLSGSE12603 136547211 136547881 670 0
hScc1 CdLSGSE12603 136649048 136649677 629 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