AutismKB 2.0

Annotation Detail for ERGIC3


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Basic Information Top
Gene Symbol:ERGIC3 ( C20orf47,CGI-54,Erv46,NY-BR-84,PRO0989,SDBCAG84,dJ477O4.2 )
Gene Full Name: ERGIC and golgi 3
Band: 20q11.22
Quick LinksEntrez ID:51614; OMIM: NA; Uniprot ID:ERGI3_HUMAN; ENSEMBL ID: ENSG00000125991; HGNC ID: 15927
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
241N-linked (GlcNAc...).
266N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
266N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphotyrosine(EGFR)HMM predict
49Phosphotyrosine(EGFR)HMM predict
241N-linkedHMM predict
266N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015966
  • Location:chr20 33593191-33608817
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 33590824 33591462 638 2049
Rb GrowingGSE19898 33592736 33593030 294 309
Rb QuiescentGSE19898 33592900 33593269 369 107
Rb SenescentGSE19898 33592875 33593291 416 109
p130 SenescentGSE19898 33592926 33593325 399 66
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 33619988 33620265 277 11309
RARA MCF7GSE15244 33627202 33628080 878 18824
TFAP2C MCF7GSE21234 33612432 33612885 453 3841
hScc1 BcellGSE12603 33619988 33620265 277 11309
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 33592906 33594948 2042 0
P300 T0-glioblastomaGSE21026 33603935 33604384 449 0
PHF8 293TGSE20725 33592647 33593883 1236 0
PHF8 HeLaGSE20725 33592808 33593837 1029 0
Rb GrowingGSE19898 33593122 33593302 180 0
TAF HelaGSE8489 33601813 33602135 322 0
TAF HelaGSE8489 33602884 33603551 667 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