AutismKB 2.0

Annotation Detail for CYP27B1


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Basic Information Top
Gene Symbol:CYP27B1 ( CP2B,CYP1,CYP1alpha,CYP27B,P450c1,PDDR,VDD1,VDDR,VDDRI,VDR )
Gene Full Name: cytochrome P450, family 27, subfamily B, polypeptide 1
Band: 12q14.1
Quick LinksEntrez ID:1594; OMIM: 609506; Uniprot ID:CP27B_HUMAN; ENSEMBL ID: ENSG00000111012; HGNC ID: 2606
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
45Phosphothreonine(MAPK)HMM predict
113C-linkedHMM predict
175MethylarginineHMM predict
310N-linkedHMM predict
352Phosphoserine(MAPK)HMM predict
352Phosphoserine(ATM)HMM predict
355O-linkedHMM predict
356O-linkedHMM predict
358Phosphotyrosine(EGFR)HMM predict
360O-linkedHMM predict
362O-linkedHMM predict
439Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000785
  • Location:chr12 56442384-56447242
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 56447396 56447424 28 168
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 56444504 56446406 1902 0
FOXA1 MCF7GSE15244 56444504 56445177 673 0
FOXA1 MCF7GSE15244 56445541 56446098 557 0
GATA3 MCF7GSE15244 56445643 56447365 1722 0
NRSF mAbJurkat 56442648 56444421 1773 0
hScc1 BcellGSE12603 56444571 56446098 1527 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 17890240
hsa-let-7a hsa-let-7a-2 11 17890240
hsa-let-7a hsa-let-7a-3 22 17890240
hsa-let-7a hsa-let-7a-1 9 17890240
hsa-let-7a hsa-let-7a-2 11 17890240
hsa-let-7a hsa-let-7a-3 22 17890240
hsa-let-7a* hsa-let-7a-1 9 17890240
hsa-let-7a* hsa-let-7a-3 22 17890240
hsa-let-7a* hsa-let-7a-1 9 17890240
hsa-let-7a* hsa-let-7a-3 22 17890240
hsa-let-7b hsa-let-7b 22 17890240
hsa-let-7b hsa-let-7b 22 17890240
hsa-let-7b* hsa-let-7b 22 17890240
hsa-let-7b* hsa-let-7b 22 17890240
hsa-let-7c hsa-let-7c 21 17890240
hsa-let-7c hsa-let-7c 21 17890240
hsa-let-7c* hsa-let-7c 21 17890240
hsa-let-7c* hsa-let-7c 21 17890240
hsa-let-7d hsa-let-7d 9 17890240
hsa-let-7d hsa-let-7d 9 17890240
hsa-let-7d* hsa-let-7d 9 17890240
hsa-let-7d* hsa-let-7d 9 17890240
hsa-let-7e hsa-let-7e 19 17890240
hsa-let-7e hsa-let-7e 19 17890240
hsa-let-7e* hsa-let-7e 19 17890240
hsa-let-7e* hsa-let-7e 19 17890240
hsa-let-7f hsa-let-7f-1 9 17890240
hsa-let-7f hsa-let-7f-2 X 17890240
hsa-let-7f hsa-let-7f-1 9 17890240
hsa-let-7f hsa-let-7f-2 X 17890240
hsa-let-7f-1* hsa-let-7f-1 9 17890240
hsa-let-7f-1* hsa-let-7f-1 9 17890240
hsa-let-7f-2* hsa-let-7f-2 X 17890240
hsa-let-7f-2* hsa-let-7f-2 X 17890240
hsa-let-7g hsa-let-7g 3 17890240
hsa-let-7g hsa-let-7g 3 17890240
hsa-let-7g* hsa-let-7g 3 17890240
hsa-let-7g* hsa-let-7g 3 17890240
hsa-let-7i hsa-let-7i 12 17890240
hsa-let-7i hsa-let-7i 12 17890240
hsa-let-7i* hsa-let-7i 12 17890240
hsa-let-7i* hsa-let-7i 12 17890240
hsa-miR-125b hsa-mir-125b-1 11 19437538
hsa-miR-125b hsa-mir-125b-2 21 19437538
hsa-miR-125b hsa-mir-125b-1 11 19437538
hsa-miR-125b hsa-mir-125b-2 21 19437538
No data
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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