AutismKB 2.0

Annotation Detail for HMGCS1


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Basic Information Top
Gene Symbol:HMGCS1 ( HMGCS,MGC90332 )
Gene Full Name: 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
Band: 5p12
Quick LinksEntrez ID:3157; OMIM: 142940; Uniprot ID:HMCS1_HUMAN; ENSEMBL ID: ENSG00000112972; HGNC ID: 5007
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4Phosphoserine.
46N6-acetyllysine.
246N6-acetyllysine.
273N6-acetyllysine.
321N6-acetyllysine.
476Phosphothreonine.
495Phosphoserine.
516Phosphoserine.
Location(AA) Modifications Resource
495Phosphoserine.Swiss-Prot 53.0
495PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
115Phosphoserine(CK2)HMM predict
202SulfotyrosineHMM predict
205SulfotyrosineHMM predict
205Phosphotyrosine(Syk)HMM predict
295Phosphotyrosine(INSR)HMM predict
310Phosphotyrosine(Syk)HMM predict
328Phosphoserine(ATM)HMM predict
393Phosphothreonine(MAPK)HMM predict
465Phosphothreonine(PKA)HMM predict
471Phosphothreonine(PKA)HMM predict
495Phosphoserine(CDC2)HMM predict
495Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002130
  • Location:chr5 43325254-43349240
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 43348316 43350490 2174 163
Oct1 HelaGSE14283 43351792 43351824 32 2568
P300 T30-glioblastomaGSE21026 43348386 43350798 2412 352
PHF8 HeLaGSE20725 43348656 43349949 1293 62
Rb GrowingGSE19898 43349357 43349594 237 235
TAF HelaGSE8489 43350812 43351043 231 1687
p130 QuiescentGSE19898 43349407 43349661 254 294
p130 SenescentGSE19898 43349168 43349714 546 201
p130 shRbQuiescentGSE19898 43348980 43349538 558 19
p130 shRbSenescentGSE19898 43349000 43349707 707 113
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 43347573 43350827 3254 0
CTCF CD4GSE12889 43341786 43342146 360 0
CTCF CD4SISSRdata 43341786 43342146 360 0
CTCF G2GSE9613 43341955 43342278 323 0
CTCF G2GSE9613 43348625 43349561 936 0
H3K4me2 HCT116GSE10453 43348456 43348917 461 0
H3K4me3 colorectalcancer 43347841 43348881 1040 0
H3ac HepG2E 43347216 43349076 1860 0
Oct1 HelaGSE14283 43332313 43332382 69 0
PHF8 293TGSE20725 43348717 43349472 755 0
RARA MCF7GSE15244 43330105 43330568 463 0
TAF HelaGSE8489 43347813 43348816 1003 0
hScc1 BcellGSE12603 43348660 43349198 538 0
p130 QuiescentGSE19898 43348911 43349354 443 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