AutismKB 2.0

Annotation Detail for EDEM1


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Basic Information Top
Gene Symbol:EDEM1 ( EDEM,FLJ51559,FLJ51560,KIAA0212 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 1
Band: 3p26.1
Quick LinksEntrez ID:9695; OMIM: 607673; Uniprot ID:EDEM1_HUMAN; ENSEMBL ID: ENSG00000134109; HGNC ID: 18967
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
181N-linked (GlcNAc...) (Potential).
198N-linked (GlcNAc...) (Potential).
299N-linked (GlcNAc...) (Potential).
342N-linked (GlcNAc...) (Potential).
624N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
181N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
198N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
299N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
342N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
624N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
48Phosphoserine(CDC2)HMM predict
54Phosphoserine(MAPK)HMM predict
54O-linkedHMM predict
54Phosphoserine(CDC2)HMM predict
56O-linkedHMM predict
62MethylarginineHMM predict
82PhosphoserineHMM predict
114Phosphotyrosine(INSR)HMM predict
114Phosphotyrosine(Syk)HMM predict
198N-linkedHMM predict
299N-linkedHMM predict
342N-linkedHMM predict
420Phosphotyrosine(INSR)HMM predict
654ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014674
  • Location:chr3 5204432-5236641
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 5203467 5204019 552 690
TAF k562GSE8489 5203467 5203943 476 728
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 5243489 5243692 203 6949
CTCF CD4SISSRdata 5243489 5243692 203 6949
CTCF G2GSE9613 5243132 5243360 228 6605
CTCF G2GSE9613 5248311 5248497 186 11763
CTCF G2GSE9613 5254538 5254862 324 18059
ER E2-MCF7GSE14664 5248180 5248220 40 11559
FOXA1 MCF7GSE15244 5249416 5249680 264 12907
FOXA1 MCF7GSE15244 5252556 5252882 326 16078
RARA MCF7GSE15244 5249308 5249680 372 12853
hScc1 CdLSGSE12603 5243132 5243608 476 6729
hScc1 G2GSE9613 5243132 5243608 476 6729
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 5212045 5215274 3229 0
CTCF G2GSE9613 5204934 5205318 384 0
CTCF G2GSE9613 5230426 5230834 408 0
ER Fulvestrant-MCF7GSE14664 5208060 5208143 83 0
ER Fulvestrant-MCF7GSE14664 5208294 5208350 56 0
FOXA1 MCF7GSE15244 5205283 5206205 922 0
FOXA1 MCF7GSE15244 5211185 5211714 529 0
FOXA1 MCF7GSE15244 5227428 5230221 2793 0
Fos K562GSE19551 5211218 5211977 759 0
H3K4me3 colorectalcancer 5205664 5206164 500 0
H3ac HepG2E 5206645 5207381 736 0
NRSF mAbJurkat 5205917 5206205 288 0
PHF8 Hs68plusFBSGSE20725 5204168 5205576 1408 0
RARA MCF7GSE15244 5205392 5206205 813 0
RARA MCF7GSE15244 5211185 5211749 564 0
RARA MCF7GSE15244 5213302 5213539 237 0
hScc1 BcellGSE12603 5204721 5205626 905 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