AutismKB 2.0

Annotation Detail for HOXD12


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Basic Information Top
Gene Symbol:HOXD12 ( HOX4H )
Gene Full Name: homeobox D12
Band: 2q31.1
Quick LinksEntrez ID:3238; OMIM: 142988; Uniprot ID:HXD12_HUMAN; ENSEMBL ID: ENSG00000170178; HGNC ID: 5135
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
41Phosphoserine(CDC2)HMM predict
55O-linkedHMM predict
64O-linkedHMM predict
70Phosphoserine(ATM)HMM predict
142Phosphothreonine(MAPK)HMM predict
145O-linkedHMM predict
193S-palmitoylHMM predict
194Phosphoserine(MAPK)HMM predict
194Phosphoserine(CDC2)HMM predict
245N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021193
  • Location:chr2 176672775-176673733
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 176670452 176671509 1057 1795
H3K27me3 colorectalcancer 176670860 176671338 478 1677
H3K27me3 colorectalcancer 176671882 176672323 441 673
Oct4 hESGSE21916 176669808 176671904 2096 1920
hScc1 G2GSE9613 176670322 176671411 1089 1909
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 176675250 176677488 2238 2636
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 176673037 176673477 440 0
H3K27me3 colorectalcancer 176673477 176673859 382 0
hScc1 BcellGSE12603 176672894 176673172 278 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