AutismKB 2.0

Annotation Detail for MATK


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Basic Information Top
Gene Symbol:MATK ( CHK,CTK,DKFZp434N1212,HHYLTK,HYL,HYLTK,Lsk,MGC1708,MGC2101 )
Gene Full Name: megakaryocyte-associated tyrosine kinase
Band: 19p13.3
Quick LinksEntrez ID:4145; OMIM: 600038; Uniprot ID:MATK_HUMAN; ENSEMBL ID: ENSG00000007264; HGNC ID: 6906
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
501Phosphoserine.
504Phosphoserine.
Location(AA) Modifications Resource
501Phosphoserine.Swiss-Prot 53.0
501PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
39O-linkedHMM predict
44Phosphothreonine(PKC)HMM predict
83N-linkedHMM predict
128Phosphoserine(PKG)HMM predict
301Phosphotyrosine(INSR)HMM predict
490Phosphoserine(IKK)HMM predict
492O-linkedHMM predict
501Phosphoserine(CDC2)HMM predict
501Phosphoserine(CDK)HMM predict
501Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002378
  • Location:chr19 3728967-3752809
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 3760399 3760613 214 7697
CTCF G2GSE9613 3770253 3770532 279 17583
CTCF G2GSE9613 3771317 3771610 293 18654
H3K27me3 colorectalcancer 3754013 3754191 178 1293
RNAII Tamoxifen-MCF7GSE14664 3768730 3768773 43 15942
hScc1 BcellGSE12603 3755594 3755835 241 2905
hScc1 BcellGSE12603 3759632 3760613 981 7313
hScc1 BcellGSE12603 3761903 3762263 360 9274
hScc1 BcellGSE12603 3772179 3772385 206 19473
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 3743048 3743607 559 0
H3K27me3 colorectalcancer 3752134 3752410 276 0
KLF4 hESGSE17917 3737381 3737584 203 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