AutismKB 2.0

Annotation Detail for EDEM3


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Basic Information Top
Gene Symbol:EDEM3 ( C1orf22 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 3
Band: 1q25.3
Quick LinksEntrez ID:80267; OMIM: 610214; Uniprot ID:EDEM3_HUMAN; ENSEMBL ID: ENSG00000116406; HGNC ID: 16787
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
118N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...).
303Phosphotyrosine (By similarity).
310Phosphoserine (By similarity).
504N-linked (GlcNAc...) (Potential).
511N-linked (GlcNAc...) (Potential).
810N-linked (GlcNAc...) (Potential).
814N-linked (GlcNAc...) (Potential).
900N-linked (GlcNAc...) (Potential).
932Prevents secretion from ER (Potential).
Location(AA) Modifications Resource
75N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
152N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
461N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
468N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
767N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
771N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
857N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
21SulfotyrosineHMM predict
24SulfotyrosineHMM predict
29SulfotyrosineHMM predict
75N-linkedHMM predict
128SulfotyrosineHMM predict
128Phosphotyrosine(INSR)HMM predict
152N-linkedHMM predict
155O-linkedHMM predict
181O-linkedHMM predict
267Phosphoserine(CK2)HMM predict
284Phosphoserine(ATM)HMM predict
379Phosphotyrosine(Syk)HMM predict
444SulfotyrosineHMM predict
468N-linkedHMM predict
469Phosphothreonine(CK2)HMM predict
469Phosphothreonine(PKC)HMM predict
473Phosphotyrosine(INSR)HMM predict
594Phosphoserine(ATM)HMM predict
637Phosphothreonine(PKA)HMM predict
697Phosphoserine(CK1)HMM predict
697Phosphoserine(CK2)HMM predict
699Phosphoserine(ATM)HMM predict
764Phosphoserine(CK1)HMM predict
764Phosphoserine(CK2)HMM predict
765Phosphoserine(CK2)HMM predict
765PhosphoserineHMM predict
765Phosphoserine(IKK)HMM predict
767N-linkedHMM predict
769Phosphoserine(CK1)HMM predict
769Phosphoserine(ATM)HMM predict
769Phosphoserine(IKK)HMM predict
771N-linkedHMM predict
781Phosphoserine(ATM)HMM predict
791Phosphoserine(CK1)HMM predict
792Phosphoserine(CK1)HMM predict
792Phosphoserine(CK2)HMM predict
796Phosphoserine(CK1)HMM predict
805Phosphoserine(IKK)HMM predict
816Phosphoserine(MAPK)HMM predict
818O-linkedHMM predict
818O-linkedHMM predict
822Phosphoserine(IKK)HMM predict
823N-linkedHMM predict
827N-linkedHMM predict
848Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025191
  • Location:chr1 182926260-182990326
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 182989900 182990950 1050 99
ETS1 JurkatGSE17954 182989714 182991443 1729 252
Fos K562GSE19551 182990363 182991797 1434 754
H3K4me2 HCT116GSE10453 182990971 182991746 775 1032
H3K4me3 colorectalcancer 182991199 182991783 584 1165
H3ac HepG2E 182991164 182991783 619 1147
Myc K562GSE19551 183006950 183007341 391 16819
Oct1 HelaGSE14283 182992897 182992925 28 2585
PHF8 Hs68minusFBSGSE20725 182989941 182991551 1610 420
RARA MCF7GSE15244 182991199 182991698 499 1122
Rb QuiescentGSE19898 182990625 182990968 343 470
Rb QuiescentGSE19898 182990975 182991246 271 784
Rb SenescentGSE19898 182990627 182991164 537 569
TAF k562GSE8489 182991199 182992294 1095 1420
TAF k562GSE8489 183005908 183006450 542 15853
hScc1 BcellGSE12603 182989936 182990758 822 21
p130 QuiescentGSE19898 182990578 182991010 432 468
p130 SenescentGSE19898 182990534 182991076 542 479
p130 shRbQuiescentGSE19898 182990697 182991068 371 556
p130 shRbSenescentGSE19898 182990434 182990999 565 390
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 182920733 182921167 434 5311
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 182946408 182946453 45 0
H3ac HepG2E 182989666 182990167 501 0
Oct1 HelaGSE14283 182946410 182946459 49 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