AutismKB 2.0

Annotation Detail for DNAH12


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Basic Information Top
Gene Symbol:DNAH12 ( DHC3,DLP12,DNAH12L,DNAH7L,DNAHC12,DNAHC3,DNHD2,FLJ40427,FLJ44290,HDHC3,HL-19,HL19 )
Gene Full Name: dynein, axonemal, heavy chain 12
Band: 3p14.3
Quick LinksEntrez ID:201625; OMIM: 603340; Uniprot ID:DYH12_HUMAN; ENSEMBL ID: ENSG00000174844; HGNC ID: 2943
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
249Phosphoserine.
264Phosphotyrosine.
1260GPAGTGKT motif.
1309CFDEFNR motif.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198564
  • Location:chr3 57458770-57505107
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 57458531 57458577 46 217
Oct1 HelaGSE14283 57458523 57458576 53 221
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 57480568 57480879 311 0
Nanog ESGSE20650 57504839 57505279 440 0
Nanog hESGSE18292 57504825 57505100 275 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