AutismKB 2.0

Annotation Detail for MVK


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Basic Information Top
Gene Symbol:MVK ( FLJ96772,LRBP,MK,MVLK )
Gene Full Name: mevalonate kinase
Band: 12q24.11
Quick LinksEntrez ID:4598; OMIM: 251170; Uniprot ID:KIME_HUMAN; ENSEMBL ID: ENSG00000110921; HGNC ID: 7530
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
69Phosphoserine(CAMK2)HMM predict
69Phosphoserine(IKK)HMM predict
73Phosphoserine(CK2)HMM predict
73Phosphoserine(IKK)HMM predict
82Phosphothreonine(MAPK)HMM predict
150O-linkedHMM predict
199N-linkedHMM predict
205N-linkedHMM predict
227Phosphoserine(CDC2)HMM predict
291Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000431
  • Location:chr12 108495999-108519449
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 108495285 108496403 1118 156
Rb GrowingGSE19898 108495748 108496027 279 112
Rb QuiescentGSE19898 108495689 108496028 339 141
TFAP2C MCF7GSE21234 108495293 108496442 1149 132
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 108519966 108520191 225 629
CTCF CD4SISSRdata 108519966 108520191 225 629
CTCF HelaGSE12889 108519896 108520197 301 597
CTCF G2GSE9613 108519760 108520263 503 562
CTCF G2GSE9613 108525823 108526074 251 6499
CTCF G2GSE9613 108527229 108528172 943 8251
CTCF G2GSE9613 108529499 108529870 371 10235
ER E2-MCF7GSE14664 108533597 108533629 32 14164
TFAP2C MCF7GSE21234 108531564 108531877 313 12271
hScc1 BcellGSE12603 108519713 108520263 550 539
hScc1 BcellGSE12603 108536742 108537070 328 17457
hScc1 CdLSGSE12603 108519826 108520263 437 595
hScc1 G2GSE9613 108519931 108520263 332 648
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 108504712 108505163 451 0
CTCF G2GSE9613 108509398 108509612 214 0
CTCF G2GSE9613 108509943 108510306 363 0
CTCF G2GSE9613 108511062 108512025 963 0
CTCF G2GSE9613 108512466 108513286 820 0
CTCF G2GSE9613 108514420 108514706 286 0
CTCF G2GSE9613 108517122 108517338 216 0
CTCF G2GSE9613 108518440 108519071 631 0
ER E2-MCF7GSE14664 108517505 108517611 106 0
FOXA1 DLD1GSE12801 108510474 108511190 716 0
FOXA1 MCF7GSE15244 108510194 108511088 894 0
GATA3 MCF7GSE15244 108514668 108515637 969 0
H3ac HepG2E 108496973 108497401 428 0
NRSF pAbJurkat 108518476 108519292 816 0
RNAII Tamoxifen-MCF7GSE14664 108502768 108502880 112 0
TFAP2C MCF7GSE21234 108503895 108504456 561 0
hScc1 CdLSGSE12603 108504983 108505163 180 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