AutismKB 2.0

Annotation Detail for EMX1


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Basic Information Top
Gene Symbol:EMX1 ( - )
Gene Full Name: empty spiracles homeobox 1
Band: 2p13.2
Quick LinksEntrez ID:2016; OMIM: 600034; Uniprot ID:EMX1_HUMAN; ENSEMBL ID: ENSG00000135638; HGNC ID: 3340
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
79Phosphotyrosine(INSR)HMM predict
106Phosphoserine(CDC2)HMM predict
167Phosphoserine(CDC2)HMM predict
183Phosphotyrosine(INSR)HMM predict
197Phosphoserine(IKK)HMM predict
199Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004097
  • Location:chr2 72998111-73015527
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 73015526 73016238 712 355
CTCF G2GSE9613 73016753 73016946 193 1322
CTCF G2GSE9613 73018008 73018343 335 2648
TFAP2C MCF7GSE21234 73017391 73018840 1449 2588
hScc1 BcellGSE12603 73015446 73016074 628 233
hScc1 CdLSGSE12603 73015268 73016008 740 111
hScc1 G2GSE9613 73015481 73016120 639 273
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 72998099 72999383 1284 0
CTCF G2GSE9613 73001501 73001813 312 0
CTCF G2GSE9613 73004785 73005750 965 0
CTCF G2GSE9613 73009308 73009549 241 0
CTCF G2GSE9613 73011931 73012651 720 0
CTCF G2GSE9613 73013590 73014140 550 0
H3K27me3 colorectalcancer 72999729 73000535 806 0
P300 T30-glioblastomaGSE21026 73011967 73012343 376 0
hScc1 BcellGSE12603 72998517 72998763 246 0
hScc1 BcellGSE12603 73011967 73012426 459 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