AutismKB 2.0

Annotation Detail for MED12


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Basic Information Top
Gene Symbol:MED12 ( ARC240,CAGH45,FGS1,HOPA,KIAA0192,OKS,OPA1,TNRC11,TRAP230 )
Gene Full Name: mediator complex subunit 12
Band: Xq13.1
Quick LinksEntrez ID:9968; OMIM: 300188; Uniprot ID:MED12_HUMAN; ENSEMBL ID: ENSG00000184634; HGNC ID: 11957
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
166Phosphotyrosine.
635Phosphoserine.
698Phosphoserine.
700Phosphoserine.
1258Phosphoserine.
1269Phosphoserine.
Location(AA) Modifications Resource
670Phosphoserine.Swiss-Prot 53.0
670PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
51MethylarginineHMM predict
247O-linkedHMM predict
334Phosphotyrosine(Jak)HMM predict
351Phosphoserine(CK1)HMM predict
360O-linkedHMM predict
361O-linkedHMM predict
361O-linkedHMM predict
361Phosphoserine(IKK)HMM predict
362O-linkedHMM predict
365O-linkedHMM predict
366O-linkedHMM predict
366O-linkedHMM predict
373O-linkedHMM predict
374O-linkedHMM predict
375O-linkedHMM predict
376O-linkedHMM predict
376Phosphothreonine(CDK)HMM predict
378O-linkedHMM predict
379Phosphothreonine(MAPK)HMM predict
379Phosphothreonine(CDK)HMM predict
379O-linkedHMM predict
407S-palmitoylHMM predict
408S-palmitoylHMM predict
532Phosphoserine(CK2)HMM predict
533Phosphoserine(CK1)HMM predict
592O-linkedHMM predict
592Phosphoserine(IKK)HMM predict
623Phosphoserine(PKB)HMM predict
670O-linkedHMM predict
690Phosphoserine(CK2)HMM predict
733Phosphoserine(CDC2)HMM predict
735Phosphoserine(CDK)HMM predict
735Phosphoserine(ATM)HMM predict
735Phosphoserine(CDC2)HMM predict
822Phosphothreonine(PKA)HMM predict
922Phosphoserine(ATM)HMM predict
995N-linkedHMM predict
997Phosphoserine(ATM)HMM predict
1014Phosphotyrosine(Jak)HMM predict
1140N-linkedHMM predict
1146N-linkedHMM predict
1200Phosphoserine(CK1)HMM predict
1207Phosphothreonine(PKC)HMM predict
1304Phosphoserine(PKG)HMM predict
1331S-palmitoylHMM predict
1394Phosphoserine(PKG)HMM predict
1395Phosphoserine(IKK)HMM predict
1405Phosphothreonine(MAPK)HMM predict
1433Phosphoserine(IKK)HMM predict
1433Phosphoserine(CK1)HMM predict
1434O-linkedHMM predict
1435O-linkedHMM predict
1437O-linkedHMM predict
1437Phosphoserine(IKK)HMM predict
1445O-linkedHMM predict
1509Phosphoserine(CK1)HMM predict
1512Phosphoserine(ATM)HMM predict
1586Phosphothreonine(PKA)HMM predict
1626N-linkedHMM predict
1635Phosphoserine(CK1)HMM predict
1637Phosphoserine(ATM)HMM predict
1648Phosphotyrosine(INSR)HMM predict
1664PhosphoserineHMM predict
1773Phosphotyrosine(Syk)HMM predict
1814Phosphothreonine(PKC)HMM predict
1822Phosphothreonine(PKC)HMM predict
1828Phosphoserine(ATM)HMM predict
1828Phosphoserine(IKK)HMM predict
1843MethylarginineHMM predict
1847Phosphotyrosine(SRC)HMM predict
1873Phosphoserine(PKA)HMM predict
1908Phosphothreonine(PKA)HMM predict
1966Phosphothreonine(CDK)HMM predict
1966Phosphothreonine(MAPK)HMM predict
1966Phosphothreonine(PKA)HMM predict
1976Phosphoserine(ATM)HMM predict
1980O-linkedHMM predict
1997O-linkedHMM predict
2008Phosphotyrosine(Syk)HMM predict
2016N-linkedHMM predict
2066Phosphothreonine(CDC2)HMM predict
2168Phosphoserine(ATM)HMM predict
2168Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005120
  • Location:chrX 70255130-70279027
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 70254227 70255177 950 429
Nanog hESGSE18292 70254242 70254943 701 538
Sox2 hESGSE18292 70254395 70254918 523 474
hScc1 BcellGSE12603 70254886 70255205 319 85
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70265764 70266109 345 0
CTCF CD4SISSRdata 70265764 70266109 345 0
CTCF JurkatGSE12889 70265779 70266151 372 0
CTCF G2GSE9613 70255070 70255269 199 0
CTCF G2GSE9613 70265423 70266235 812 0
CTCF G2GSE9613 70273586 70273940 354 0
CTCF G2GSE9613 70278500 70278806 306 0
ER E2-MCF7GSE14664 70278483 70278521 38 0
Gata2 K562GSE18868 70267991 70268958 967 0
Myc K562GSE19551 70277093 70277322 229 0
Oct1 HelaGSE14283 70278338 70278368 30 0
Oct1 HelaGSE14283 70278486 70278541 55 0
PHF8 293TGSE20725 70254566 70255764 1198 0
hScc1 BcellGSE12603 70255992 70256274 282 0
hScc1 BcellGSE12603 70265459 70266235 776 0
hScc1 BcellGSE12603 70273184 70273515 331 0
hScc1 CdLSGSE12603 70265622 70266235 613 0
hScc1 G2GSE9613 70255070 70255546 476 0
hScc1 G2GSE9613 70265555 70266092 537 0
hScc1 G2GSE9613 70273726 70273940 214 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


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