AutismKB 2.0

Annotation Detail for MMP19


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Basic Information Top
Gene Symbol:MMP19 ( MMP18,RASI-1 )
Gene Full Name: matrix metallopeptidase 19
Band: 12q13.2
Quick LinksEntrez ID:4327; OMIM: 601807; Uniprot ID:MMP19_HUMAN; ENSEMBL ID: ENSG00000123342; HGNC ID: 7165
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90Cysteine switch (By similarity).
464N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
464N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
137Phosphoserine(IKK)HMM predict
164Phosphoserine(PKB)HMM predict
164Phosphoserine(IKK)HMM predict
201Phosphotyrosine(SRC)HMM predict
259Phosphoserine(CDC2)HMM predict
274O-linkedHMM predict
274O-linkedHMM predict
283O-linkedHMM predict
291Phosphoserine(CK1)HMM predict
304Phosphothreonine(PKC)HMM predict
318Phosphoserine(IKK)HMM predict
366Phosphoserine(CDC2)HMM predict
482O-linkedHMM predict
482O-linkedHMM predict
485N-linkedHMM predict
486O-linkedHMM predict
487O-linkedHMM predict
487Phosphothreonine(CDC2)HMM predict
489O-linkedHMM predict
489O-linkedHMM predict
497O-linkedHMM predict
500Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002429
  • Location:chr12 54515481-54523001
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54524053 54524276 223 1163
CTCF G2GSE9613 54528057 54528410 353 5232
FOXA1 MCF7GSE15244 54523040 54523708 668 373
Fos K562GSE19551 54522711 54523460 749 84
p130 QuiescentGSE19898 54522932 54523294 362 112
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54514618 54514970 352 688
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54522631 54522954 323 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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