AutismKB 2.0

Annotation Detail for TIMP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TIMP1 ( CLGI,EPA,EPO,FLJ90373,HCI,TIMP )
Gene Full Name: TIMP metallopeptidase inhibitor 1
Band: Xp11.3
Quick LinksEntrez ID:7076; OMIM: 305370; Uniprot ID:TIMP1_HUMAN; ENSEMBL ID: ENSG00000102265; HGNC ID: 11820
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
53N-linked (GlcNAc...).
101N-linked (GlcNAc...).
Location(AA) Modifications Resource
53N-linked (GlcNAc...)./FTId=CAR
101N-linked (GlcNAc...)./FTId=CAR
Location(AA) Modification Resource
53N-linkedHMM predict
55O-linkedHMM predict
155S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003254
  • Location:chrX 47326633-47331132
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47326737 47326962 225 0
PHF8 HeLaGSE20725 47326495 47327333 838 0
Rb SenescentGSE19898 47326540 47326736 196 0
hScc1 BcellGSE12603 47326737 47327091 354 0
hScc1 G2GSE9613 47326524 47326879 355 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