AutismKB 2.0

Annotation Detail for NR5A1


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Basic Information Top
Gene Symbol:NR5A1 ( AD4BP,ELP,FTZ1,FTZF1,POF7,SF-1,SF1 )
Gene Full Name: nuclear receptor subfamily 5, group A, member 1
Band: 9q33.3
Quick LinksEntrez ID:2516; OMIM: 184757; Uniprot ID:STF1_HUMAN; ENSEMBL ID: ENSG00000136931; HGNC ID: 7983
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
34N6-acetyllysine (Probable).
38N6-acetyllysine (Probable).
72N6-acetyllysine (Probable).
203Phosphoserine.
Location(AA) Modifications Resource
203Phosphoserine (MAP2K
430PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
183Phosphotyrosine(Jak)HMM predict
201Phosphotyrosine(Abl)HMM predict
201Phosphotyrosine(Syk)HMM predict
203O-linkedHMM predict
203Phosphoserine(CDC2)HMM predict
203Phosphoserine(CDK)HMM predict
203Phosphoserine(ATM)HMM predict
203PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004959
  • Location:chr9 126283336-126309519
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 126308977 126310650 1673 294
hScc1 BcellGSE12603 126314583 126314900 317 5222
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 126282730 126282926 196 509
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 126297428 126298096 668 0
H3K4me3 colorectalcancer 126306385 126306774 389 0
NFkBII GM10847GSE19485 126301022 126301807 785 0
NFkBII GM12892GSE19485 126300919 126302023 1104 0
NFkBII GM18505GSE19485 126301162 126302031 869 0
USF2 HepG2E 126309019 126309504 485 0
hScc1 BcellGSE12603 126289798 126290127 329 0
hScc1 BcellGSE12603 126294174 126294903 729 0
hScc1 BcellGSE12603 126297393 126297829 436 0
hScc1 BcellGSE12603 126305229 126306774 1545 0
hScc1 BcellGSE12603 126307112 126307402 290 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