AutismKB 2.0

Annotation Detail for SRD5A1


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Basic Information Top
Gene Symbol:SRD5A1 ( S5AR 1 )
Gene Full Name: steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
Band: 5p15.31
Quick LinksEntrez ID:6715; OMIM: 184753; Uniprot ID:S5A1_HUMAN; ENSEMBL ID: ENSG00000145545; HGNC ID: 11284
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001047
  • Location:chr5 6686499-6722672
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6685824 6687024 1200 76
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6723101 6723661 560 709
NRSF JurkatGSE13047 6739486 6740955 1469 17548
NRSF mAbJurkat 6738172 6740890 2718 16859
NRSF mAbJurkat 6741911 6742450 539 19508
NRSF-mono JurkatQuESTdata 6739583 6740635 1052 17437
NRSF-poly JurkatQuESTdata 6739493 6740650 1157 17399
Oct1 H2O2-HelaGSE14283 6735373 6735401 28 12715
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6711472 6711762 290 0
CTCF G2GSE9613 6713272 6713599 327 0
CTCF G2GSE9613 6715228 6715438 210 0
PHF8 293TGSE20725 6686560 6687106 546 0
Rb GrowingGSE19898 6687084 6687324 240 0
Rb QuiescentGSE19898 6686922 6687368 446 0
Rb SenescentGSE19898 6686730 6687425 695 0
Rb shRbQuiescentGSE19898 6686985 6687263 278 0
Rb shRbSenescenceGSE19898 6686700 6686879 179 0
Rb shRbSenescenceGSE19898 6686946 6687095 149 0
Rb shRbSenescenceGSE19898 6687133 6687327 194 0
p130 shRbSenescentGSE19898 6688592 6688828 236 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