AutismKB 2.0

Annotation Detail for BCHE


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Basic Information Top
Gene Symbol:BCHE ( CHE1,E1 )
Gene Full Name: butyrylcholinesterase
Band: 3q26.1
Quick LinksEntrez ID:590; OMIM: 177400; Uniprot ID:CHLE_HUMAN; ENSEMBL ID: ENSG00000114200; HGNC ID: 983
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45N-linked (GlcNAc...).
85N-linked (GlcNAc...).
134N-linked (GlcNAc...).
269N-linked (GlcNAc...).
284N-linked (GlcNAc...).
369N-linked (GlcNAc...).
483N-linked (GlcNAc...).
509N-linked (GlcNAc...).
513N-linked (GlcNAc...).
514N-linked (GlcNAc...).
Location(AA) Modifications Resource
45N-linked (GlcNAc...).Swiss-Prot 53.0
85N-linked (GlcNAc...).Swiss-Prot 53.0
134N-linked (GlcNAc...).Swiss-Prot 53.0
269N-linked (GlcNAc...).Swiss-Prot 53.0
284N-linked (GlcNAc...).Swiss-Prot 53.0
369N-linked (GlcNAc...).Swiss-Prot 53.0
483N-linked (GlcNAc...).Swiss-Prot 53.0
509N-linked (GlcNAc...).Swiss-Prot 53.0
514N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
20S-palmitoylHMM predict
28Phosphothreonine(CK2)HMM predict
45N-linkedHMM predict
85N-linkedHMM predict
91N-linkedHMM predict
134N-linkedHMM predict
238Phosphoserine(MAPK)HMM predict
254Phosphoserine(IKK)HMM predict
284N-linkedHMM predict
310Phosphotyrosine(Abl)HMM predict
312Phosphothreonine(MAPK)HMM predict
413Phosphotyrosine(EGFR)HMM predict
483N-linkedHMM predict
484Phosphotyrosine(INSR)HMM predict
505Phosphotyrosine(INSR)HMM predict
509N-linkedHMM predict
513N-linkedHMM predict
514N-linkedHMM predict
528Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000055
  • Location:chr3 166973386-167037943
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 167055094 167055359 265 17283
CTCF CD4SISSRdata 167055094 167055359 265 17283
CTCF G2GSE9613 167055071 167055680 609 17432
FOXA1 MCF7GSE15244 167055952 167056571 619 18318
Nanog hESGSE18292 167055192 167055556 364 17431
RARA MCF7GSE15244 167055753 167056571 818 18219
hScc1 G2GSE9613 167055142 167055680 538 17468
p63 keratinocytesGSE17611 167055953 167056888 935 18477
No data
No data
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