AutismKB 2.0

Annotation Detail for COMT


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Basic Information Top
Gene Symbol:COMT ( - )
Gene Full Name: catechol-O-methyltransferase
Band: 22q11.21
Quick LinksEntrez ID:1312; OMIM: 116790; Uniprot ID:COMT_HUMAN; ENSEMBL ID: ENSG00000093010; HGNC ID: 2228
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
267Phosphoserine (By similarity).
Location(AA) Modifications Resource
267Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
34S-palmitoylHMM predict
262Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000754
  • Location:chr22 18309308-18336527
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18315340 18315554 214 0
CTCF CD4GSE12889 18321276 18321452 176 0
CTCF CD4GSE12889 18329878 18330038 160 0
CTCF CD4SISSRdata 18315340 18315554 214 0
CTCF CD4SISSRdata 18321276 18321452 176 0
CTCF CD4SISSRdata 18329878 18330038 160 0
CTCF JurkatGSE12889 18315314 18315561 247 0
CTCF JurkatGSE12889 18321248 18321513 265 0
CTCF JurkatGSE12889 18329791 18330069 278 0
CTCF G2GSE9613 18321119 18321866 747 0
CTCF G2GSE9613 18324967 18325316 349 0
CTCF G2GSE9613 18329679 18330288 609 0
H3ac HepG2E 18309511 18310178 667 0
Myc K562GSE19551 18314891 18315591 700 0
Myc K562GSE19551 18321177 18321549 372 0
PHF8 HeLaGSE20725 18308914 18309988 1074 0
Rb GrowingGSE19898 18309277 18309391 114 0
TAF k562GSE8489 18309626 18310178 552 0
TFAP2C MCF7GSE21234 18326760 18327596 836 0
USF1 HepG2E 18318914 18319121 207 0
p63 keratinocytesGSE17611 18322849 18323576 727 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
17149 mRNA COMT chr22 18303862 18331084 112 mRNA TXNRD2 chr22 18237599 18304069Sense/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