AutismKB 2.0

Annotation Detail for EDDM3A


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Basic Information Top
Gene Symbol:EDDM3A ( EP3A,FAM12A,HE3-ALPHA,HE3A,HE3ALPHA,MGC119614,MGC119615 )
Gene Full Name: epididymal protein 3A
Band: 14q11.2
Quick LinksEntrez ID:10876; OMIM: 611580; Uniprot ID:EP3A_HUMAN; ENSEMBL ID: ENSG00000181562; HGNC ID: 16978
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
16S-palmitoylHMM predict
40Phosphoserine(CDC2)HMM predict
89Phosphotyrosine(EGFR)HMM predict
89Phosphotyrosine(INSR)HMM predict
121Phosphoserine(CAMK2)HMM predict
121Phosphoserine(PKB)HMM predict
147AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006683
  • Location:chr14 20283938-20286377
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 20267472 20267506 34 16450
Oct1 HelaGSE14283 20267472 20267501 29 16452
Oct1 HelaGSE14283 20269325 20269351 26 14601
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 20295398 20295621 223 9132
ER E2-MCF7GSE14664 20289713 20289805 92 3382
ER Fulvestrant-MCF7GSE14664 20289403 20289516 113 3082
ER Fulvestrant-MCF7GSE14664 20289537 20289612 75 3197
ER Fulvestrant-MCF7GSE14664 20289713 20289808 95 3383
hScc1 BcellGSE12603 20295398 20295621 223 9132
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 20286353 20286388 35 0
Oct1 HelaGSE14283 20286349 20286381 32 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