AutismKB 2.0

Annotation Detail for KEAP1


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Basic Information Top
Gene Symbol:KEAP1 ( INrf2,KIAA0132,KLHL19,MGC10630,MGC1114,MGC20887,MGC4407,MGC9454 )
Gene Full Name: kelch-like ECH-associated protein 1
Band: 19p13.2
Quick LinksEntrez ID:9817; OMIM: 606016; Uniprot ID:KEAP1_HUMAN; ENSEMBL ID: ENSG00000079999; HGNC ID: 23177
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
293Phosphoserine.
295Phosphoserine.
310Nuclear export signal.
Location(AA) Modifications Resource
Location(AA) Modification Resource
8O-linkedHMM predict
43Phosphothreonine(MAPK)HMM predict
45Phosphoserine(ATM)HMM predict
49N-linkedHMM predict
104Phosphoserine(CDC2)HMM predict
222N-linkedHMM predict
314Phosphothreonine(PKA)HMM predict
346N-linkedHMM predict
381N-linkedHMM predict
382N-linkedHMM predict
383Phosphoserine(CDC2)HMM predict
387N-linkedHMM predict
404Phosphoserine(IKK)HMM predict
426Phosphotyrosine(INSR)HMM predict
598Phosphothreonine(PKC)HMM predict
624S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012289
  • Location:chr19 10457795-10474480
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 10450609 10450889 280 7047
CTCF CD4SISSRdata 10450609 10450889 280 7047
Fos K562GSE19551 10450437 10451171 734 6992
Nanog hESGSE18292 10454009 10454244 235 3669
TFAP2C MCF7GSE21234 10455232 10455808 576 2276
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 10473579 10474907 1328 0
CTCF CD4GSE12889 10463746 10464052 306 0
CTCF CD4SISSRdata 10463746 10464052 306 0
CTCF HelaGSE12889 10463781 10464038 257 0
CTCF JurkatGSE12889 10463852 10464011 159 0
CTCF G2GSE9613 10463576 10463979 403 0
CTCF G2GSE9613 10474156 10474677 521 0
ER Breast-CancerGSE22609 10458036 10458712 676 0
ER MCF7GSE19013 10457788 10458775 987 0
ER MCF7GSE19013 10463649 10464096 447 0
ER MCF7GSE19013 10473448 10474757 1309 0
FoxA1 MCF7MACSdata 10473708 10473948 240 0
NFkBII GM15510GSE19485 10473496 10475350 1854 0
NFkBII GM18526GSE19485 10473485 10475146 1661 0
Nanog hESGSE18292 10471810 10471956 146 0
Oct1 H2O2-HelaGSE14283 10474183 10474210 27 0
P300 T30-glioblastomaGSE21026 10473265 10475125 1860 0
PHF8 HeLaGSE20725 10473591 10475261 1670 0
PHF8 Hs68minusFBSGSE20725 10473540 10474757 1217 0
PHF8 Hs68plusFBSGSE20725 10473424 10475339 1915 0
Sox2 hESGSE18292 10471781 10471972 191 0
TFAP2C MCF7GSE21234 10473518 10474198 680 0
hScc1 BcellGSE12603 10463658 10463979 321 0
hScc1 BcellGSE12603 10473855 10474747 892 0
p130 shRbQuiescentGSE19898 10473517 10474370 853 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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