AutismKB 2.0

Annotation Detail for GBE1


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Basic Information Top
Gene Symbol:GBE1 ( GBE )
Gene Full Name: glucan (1,4-alpha-), branching enzyme 1
Band: 3p12.2
Quick LinksEntrez ID:2632; OMIM: 607839; Uniprot ID:GLGB_HUMAN; ENSEMBL ID: ENSG00000114480; HGNC ID: 4180
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
68N6-acetyllysine.
173Phosphotyrosine.
Location(AA) Modifications Resource
173Phosphotyrosine.Swiss-Prot 53.0
173PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
6Phosphothreonine(MAPK)HMM predict
14Phosphotyrosine(Syk)HMM predict
37Phosphotyrosine(Syk)HMM predict
173SulfotyrosineHMM predict
232Phosphotyrosine(INSR)HMM predict
246Phosphotyrosine(Syk)HMM predict
265Phosphothreonine(CDK)HMM predict
422Phosphoserine(MAPK)HMM predict
500Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000158
  • Location:chr3 81621547-81893434
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 81902792 81902997 205 9460
p130 SenescentGSE19898 81893474 81893752 278 179
p130 shRbQuiescentGSE19898 81893117 81893949 832 99
p130 shRbSenescentGSE19898 81893534 81893796 262 231
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 81603052 81603087 35 18478
Oct1 HelaGSE14283 81603054 81603087 33 18477
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 81713943 81714234 291 0
CTCF CD4SISSRdata 81713943 81714234 291 0
CTCF G2GSE9613 81622129 81622672 543 0
CTCF G2GSE9613 81713855 81714103 248 0
CTCF G2GSE9613 81892867 81893515 648 0
FOXA1 MCF7GSE15244 81622240 81622531 291 0
FOXA1 MCF7GSE15244 81713631 81714103 472 0
FOXA1 MCF7GSE15244 81775425 81775749 324 0
FOXA1 MCF7GSE15244 81808571 81809128 557 0
FOXA1 MCF7GSE15244 81848763 81849272 509 0
H3ac HepG2E 81892043 81892979 936 0
HIF1 HypoHepG2 81892599 81894028 1429 0
Myc K562GSE19551 81816519 81816930 411 0
Nanog ESGSE20650 81711515 81711949 434 0
Oct1 H2O2-HelaGSE14283 81708804 81708840 36 0
Oct1 H2O2-HelaGSE14283 81754032 81754064 32 0
Oct1 H2O2-HelaGSE14283 81765610 81765642 32 0
Oct1 H2O2-HelaGSE14283 81781721 81781753 32 0
Oct1 H2O2-HelaGSE14283 81874480 81874509 29 0
Oct1 H2O2-HelaGSE14283 81881042 81881072 30 0
Oct1 HelaGSE14283 81698867 81698894 27 0
Oct1 HelaGSE14283 81708804 81708837 33 0
Oct1 HelaGSE14283 81720482 81720527 45 0
Oct1 HelaGSE14283 81754032 81754071 39 0
Oct1 HelaGSE14283 81765605 81765641 36 0
Oct1 HelaGSE14283 81839078 81839114 36 0
Oct1 HelaGSE14283 81874480 81874509 29 0
PHF8 293TGSE20725 81892579 81893921 1342 0
PHF8 HeLaGSE20725 81892602 81893960 1358 0
RARA MCF7GSE15244 81622164 81622672 508 0
RARA MCF7GSE15244 81628521 81629256 735 0
RARA MCF7GSE15244 81776249 81776698 449 0
Rb GrowingGSE19898 81893095 81893265 170 0
Rb SenescentGSE19898 81892747 81893547 800 0
STAT1 HeLaGSE12782 81848378 81849672 1294 0
STAT1 HeLaGSE12783 81848412 81849638 1226 0
STAT1 IFNSISSRdata 81848488 81849591 1103 0
TFAP2C MCF7GSE21234 81628524 81629048 524 0
hScc1 BcellGSE12603 81622276 81622933 657 0
hScc1 BcellGSE12603 81713855 81714103 248 0
hScc1 BcellGSE12603 81892758 81893759 1001 0
hScc1 CdLSGSE12603 81622164 81622722 558 0
hScc1 CdLSGSE12603 81713631 81714103 472 0
hScc1 CdLSGSE12603 81798345 81798753 408 0
hScc1 CdLSGSE12603 81892599 81893795 1196 0
hScc1 G2GSE9613 81622276 81622791 515 0
hScc1 G2GSE9613 81892834 81893515 681 0
p130 QuiescentGSE19898 81848844 81848996 152 0
p130 QuiescentGSE19898 81893057 81893764 707 0
p130 shRbQuiescentGSE19898 81889954 81890419 465 0
p130 shRbSenescentGSE19898 81893153 81893460 307 0
p63 keratinocytesGSE17611 81844727 81845396 669 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