AutismKB 2.0

Annotation Detail for EHHADH


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Basic Information Top
Gene Symbol:EHHADH ( ECHD,L-PBE,LBFP,LBP,MGC120586,PBFE )
Gene Full Name: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Band: 3q27.2
Quick LinksEntrez ID:1962; OMIM: 607037; Uniprot ID:ECHP_HUMAN; ENSEMBL ID: ENSG00000113790; HGNC ID: 3247
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
165N6-acetyllysine.
171N6-acetyllysine.
346N6-acetyllysine.
359Phosphoserine.
584N6-acetyllysine.
723Microbody targeting signal.
Location(AA) Modifications Resource
Location(AA) Modification Resource
291O-linkedHMM predict
298O-linkedHMM predict
409N-linkedHMM predict
448Phosphoserine(ATM)HMM predict
451Phosphoserine(IKK)HMM predict
452Phosphoserine(ATM)HMM predict
452Phosphoserine(CDK)HMM predict
452Phosphoserine(CDC2)HMM predict
452O-linkedHMM predict
500Phosphoserine(CK2)HMM predict
500Phosphoserine(CK1)HMM predict
548Phosphothreonine(CDC2)HMM predict
615Phosphoserine(ATM)HMM predict
650Phosphotyrosine(Jak)HMM predict
654Phosphotyrosine(INSR)HMM predict
718Phosphoserine(ATM)HMM predict
718PhosphoserineHMM predict
718Phosphoserine(CDK)HMM predict
718Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001966
  • Location:chr3 186391107-186454530
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 186471111 186471300 189 16675
CTCF G2GSE9613 186454292 186454829 537 30
CTCF G2GSE9613 186470538 186470787 249 16132
PHF8 HeLaGSE20725 186454125 186454942 817 3
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 186377357 186377613 256 13623
CTCF CD4SISSRdata 186377357 186377613 256 13623
CTCF G2GSE9613 186375872 186376240 368 15052
CTCF G2GSE9613 186377040 186377623 583 13776
CTCF G2GSE9613 186381165 186381307 142 9872
hScc1 BcellGSE12603 186377151 186377515 364 13775
hScc1 CdLSGSE12603 186377114 186377479 365 13811
hScc1 G2GSE9613 186377040 186377663 623 13756
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 186416354 186416608 254 0
CTCF CD4SISSRdata 186416354 186416608 254 0
CTCF G2GSE9613 186401577 186402033 456 0
CTCF G2GSE9613 186404153 186404301 148 0
CTCF G2GSE9613 186406072 186406661 589 0
CTCF G2GSE9613 186416613 186416905 292 0
H3ac HepG2E 186453537 186453818 281 0
PHF8 Hs68minusFBSGSE20725 186454032 186454962 930 0
Rb SenescentGSE19898 186454351 186454624 273 0
p130 SenescentGSE19898 186454348 186454626 278 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
19115 mRNA LOC339926 chr3 186363390 186392443 267 mRNA EHHADH chr3 186391115 186454518Sense/Antisense (SA) pairs

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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