AutismKB 2.0

Annotation Detail for DHCR7


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Basic Information Top
Gene Symbol:DHCR7 ( SLOS )
Gene Full Name: 7-dehydrocholesterol reductase
Band: 11q13.4
Quick LinksEntrez ID:1717; OMIM: 602858; Uniprot ID:DHCR7_HUMAN; ENSEMBL ID: ENSG00000172893; HGNC ID: 2860
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
14Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
89Phosphothreonine(CDC2)HMM predict
89PhosphothreonineHMM predict
135PhosphothreonineHMM predict
287N-linkedHMM predict
334Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001360
  • Location:chr11 70823110-70837046
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 70836902 70837575 673 192
H3ac HepG2E 70837504 70837638 134 525
PHF8 293TGSE20725 70836780 70837820 1040 254
PHF8 HeLaGSE20725 70836442 70838036 1594 193
USF1 HepG2E 70837467 70837638 171 506
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 70809321 70809975 654 13463
CTCF HelaGSE12889 70809142 70809448 306 13816
FOXA1 MCF7GSE15244 70817800 70818879 1079 4771
P300 T30-glioblastomaGSE21026 70809341 70810070 729 13405
RARG MCF7GSE15244 70808769 70809485 716 13984
TFAP2C MCF7GSE21234 70814371 70815005 634 8423
hScc1 BcellGSE12603 70808968 70809561 593 13846
hScc1 CdLSGSE12603 70808921 70809584 663 13858
hScc1 G2GSE9613 70808921 70809584 663 13858
p130 shRbSenescentGSE19898 70809146 70809370 224 13853
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 70835729 70836546 817 0
H3K4me2 HCT116GSE10453 70835661 70836331 670 0
H3ac HepG2E 70835400 70836648 1248 0
Oct1 HelaGSE14283 70823676 70823762 86 0
RARA MCF7GSE15244 70835729 70836546 817 0
RARG MCF7GSE15244 70835699 70836546 847 0
hScc1 BcellGSE12603 70826115 70826386 271 0
hScc1 BcellGSE12603 70836514 70837176 662 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