AutismKB 2.0

Annotation Detail for CYP1B1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CYP1B1 ( CP1B,GLC3A,P4501B1 )
Gene Full Name: cytochrome P450, family 1, subfamily B, polypeptide 1
Band: 2p22.2
Quick LinksEntrez ID:1545; OMIM: 601771; Uniprot ID:CP1B1_HUMAN; ENSEMBL ID: ENSG00000138061; HGNC ID: 2597
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_000104
  • Location:chr2 38148249-38156795
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 38156785 38158539 1754 867
CTCF G2GSE9613 38156540 38158052 1512 501
CTCF G2GSE9613 38175615 38175973 358 18999
ER Fulvestrant-MCF7GSE14664 38173144 38173238 94 16396
ER MCF7GSE19013 38156545 38157680 1135 317
Oct1 H2O2-HelaGSE14283 38160958 38160987 29 4177
P300 T30-glioblastomaGSE21026 38156794 38158569 1775 886
PHF8 HeLaGSE20725 38156154 38158183 2029 373
RARA MCF7GSE15244 38176075 38177473 1398 19979
Rb GrowingGSE19898 38157344 38157465 121 609
Rb SenescentGSE19898 38157559 38157769 210 869
TFAP2C MCF7GSE21234 38157519 38157804 285 866
TFAP2C MCF7GSE21234 38173066 38173741 675 16608
hScc1 BcellGSE12603 38156788 38157761 973 479
hScc1 BcellGSE12603 38161091 38161228 137 4364
hScc1 G2GSE9613 38156540 38158207 1667 578
p130 QuiescentGSE19898 38156924 38157087 163 210
p130 shRbQuiescentGSE19898 38157015 38157449 434 437
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38155252 38155981 729 0
FOXA1 MCF7GSE15244 38153964 38154477 513 0
Oct1 H2O2-HelaGSE14283 38149320 38149348 28 0
Oct1 H2O2-HelaGSE14283 38151099 38151125 26 0
Oct1 H2O2-HelaGSE14283 38152364 38152393 29 0
Oct1 H2O2-HelaGSE14283 38156571 38156607 36 0
Oct1 HelaGSE14283 38149243 38149283 40 0
Oct1 HelaGSE14283 38149318 38149349 31 0
Oct1 HelaGSE14283 38151089 38151127 38 0
Oct1 HelaGSE14283 38156573 38156607 34 0
Rb GrowingGSE19898 38156669 38156834 165 0
TFAP2C MCF7GSE21234 38153872 38154280 408 0
hScc1 BcellGSE12603 38155119 38155844 725 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-27a hsa-mir-27a 19 16982751
hsa-miR-27a* hsa-mir-27a 19 16982751
hsa-miR-27b hsa-mir-27b 9 19908239
hsa-miR-27b hsa-mir-27b 9 16982751
hsa-miR-27b* hsa-mir-27b 9 19908239
hsa-miR-27b* hsa-mir-27b 9 16982751
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
302 Unknown MicroArray miR-124 CYP1B1 n_a 15685193
577 mRNA repression TRUE miR-27b CYP1B1 in vitro reporter gene assay (Luciferase) AND immunoblotting 16982751
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000138061 G1-to-S transition n_a n_a "adipocyte, epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000138061 n_a n_a n_a "adipocyte, epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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