AutismKB 2.0

Annotation Detail for ERGIC1


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Basic Information Top
Gene Symbol:ERGIC1 ( ERGIC-32,ERGIC32,FLJ39864,KIAA1181,MGC14345,NET24 )
Gene Full Name: endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
Band: 5q35.1
Quick LinksEntrez ID:57222; OMIM: NA; Uniprot ID:ERGI1_HUMAN; ENSEMBL ID: ENSG00000113719; HGNC ID: 29205
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74N-linked (GlcNAc...).
Location(AA) Modifications Resource
74N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphotyrosine(EGFR)HMM predict
31S-palmitoylHMM predict
32S-palmitoylHMM predict
33S-palmitoylHMM predict
74N-linkedHMM predict
79N-linkedHMM predict
187Phosphotyrosine(INSR)HMM predict
276ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001031711
  • Location:chr5 172193946-172312288
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 172179651 172180147 496 14048
CTCF G2GSE9613 172190906 172191160 254 2914
CTCF G2GSE9613 172192632 172194521 1889 370
Fos K562GSE19551 172176407 172177017 610 17235
Jun K562GSE19551 172176471 172177082 611 17170
PHF8 293TGSE20725 172193133 172194511 1378 125
hScc1 BcellGSE12603 172193052 172194120 1068 361
p130 SenescentGSE19898 172193464 172193765 301 332
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 172314825 172315739 914 2994
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 172195398 172198539 3141 0
CTCF CD4GSE12889 172291906 172292347 441 0
CTCF CD4SISSRdata 172291906 172292347 441 0
CTCF HelaGSE12889 172298721 172298969 248 0
CTCF JurkatGSE12889 172292103 172292362 259 0
CTCF JurkatGSE12889 172298685 172298938 253 0
CTCF G2GSE9613 172205775 172206191 416 0
CTCF G2GSE9613 172209625 172210081 456 0
CTCF G2GSE9613 172212936 172213189 253 0
CTCF G2GSE9613 172215778 172216032 254 0
CTCF G2GSE9613 172226936 172227381 445 0
CTCF G2GSE9613 172237421 172237635 214 0
CTCF G2GSE9613 172245684 172245960 276 0
CTCF G2GSE9613 172247576 172247758 182 0
CTCF G2GSE9613 172255967 172256365 398 0
CTCF G2GSE9613 172258655 172258892 237 0
CTCF G2GSE9613 172262134 172263011 877 0
CTCF G2GSE9613 172264388 172264984 596 0
CTCF G2GSE9613 172278017 172279967 1950 0
CTCF G2GSE9613 172282133 172282530 397 0
CTCF G2GSE9613 172286532 172286787 255 0
CTCF G2GSE9613 172291866 172292617 751 0
CTCF G2GSE9613 172298704 172299555 851 0
CTCF G2GSE9613 172303707 172303884 177 0
CTCF G2GSE9613 172304406 172304707 301 0
CTCF G2GSE9613 172305749 172305962 213 0
CTCF G2GSE9613 172311001 172311398 397 0
FOXA1 MCF7GSE15244 172207782 172208807 1025 0
H3ac HepG2E 172195124 172195841 717 0
KLF4 hESGSE17917 172307641 172307817 176 0
Myc K562GSE19551 172241363 172241854 491 0
Myc K562GSE19551 172291954 172292410 456 0
NRSF pAbJurkat 172245080 172245810 730 0
P300 T0-glioblastomaGSE21026 172263230 172263906 676 0
RARA MCF7GSE15244 172264165 172264984 819 0
Rb GrowingGSE19898 172279849 172280109 260 0
TFAP2C MCF7GSE21234 172245818 172247094 1276 0
TFAP2C MCF7GSE21234 172261637 172262998 1361 0
TFAP2C MCF7GSE21234 172263329 172265157 1828 0
TFAP2C MCF7GSE21234 172294587 172295134 547 0
hScc1 BcellGSE12603 172197277 172197615 338 0
hScc1 BcellGSE12603 172250356 172250519 163 0
hScc1 BcellGSE12603 172291866 172292521 655 0
hScc1 CdLSGSE12603 172291866 172292557 691 0
hScc1 G2GSE9613 172205775 172206191 416 0
hScc1 G2GSE9613 172262134 172263011 877 0
hScc1 G2GSE9613 172291866 172292423 557 0
p130 QuiescentGSE19898 172262681 172262880 199 0
p130 SenescentGSE19898 172279942 172280326 384 0
p130 shRbQuiescentGSE19898 172218454 172218891 437 0
p130 shRbQuiescentGSE19898 172262694 172263733 1039 0
p130 shRbQuiescentGSE19898 172279768 172280393 625 0
p130 shRbSenescentGSE19898 172279589 172280335 746 0
p63 keratinocytesGSE17611 172220167 172221186 1019 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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