AutismKB 2.0

Annotation Detail for EDA


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Basic Information Top
Gene Symbol:EDA ( ED1,ED1-A1,ED1-A2,EDA1,EDA2,HED,STHAGX1,XHED,XLHED )
Gene Full Name: ectodysplasin A
Band: Xq13.1
Quick LinksEntrez ID:1896; OMIM: 300451; Uniprot ID:EDA_HUMAN; ENSEMBL ID: ENSG00000158813,ENSG00000251315; HGNC ID: 3157
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
313N-linked (GlcNAc...) (Potential).
372N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
313N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
372N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
60S-palmitoylHMM predict
83Phosphothreonine(MAPK)HMM predict
87O-linkedHMM predict
127Phosphoserine(CK1)HMM predict
127Phosphoserine(ATM)HMM predict
146Phosphotyrosine(SRC)HMM predict
146Phosphotyrosine(Syk)HMM predict
147Phosphoserine(CK2)HMM predict
147PhosphoserineHMM predict
160Phosphoserine(PKG)HMM predict
212O-linkedHMM predict
313N-linkedHMM predict
372N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005609
  • Location:chrX 68752635-69176043
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 69167129 69167379 250 0
CTCF CD4SISSRdata 69167129 69167379 250 0
CTCF G2GSE9613 69166546 69167396 850 0
CTCF G2GSE9613 69169931 69170395 464 0
CTCF G2GSE9613 69171881 69172628 747 0
FOXA1 MCF7GSE15244 69095564 69095920 356 0
FOXA1 MCF7GSE15244 69096171 69096631 460 0
FoxA1 MCF7MACSdata 69096045 69096238 193 0
hScc1 BcellGSE12603 69124306 69124661 355 0
hScc1 BcellGSE12603 69169691 69170501 810 0
hScc1 CdLSGSE12603 69166958 69167415 457 0
hScc1 CdLSGSE12603 69169931 69170395 464 0
hScc1 G2GSE9613 69166881 69167489 608 0
hScc1 G2GSE9613 69169894 69170535 641 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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