AutismKB 2.0

Annotation Detail for GNB1L


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Basic Information Top
Gene Symbol:GNB1L ( DGCRK3,GY2,KIAA1645,WDR14,WDVCF )
Gene Full Name: guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Band: 22q11.21
Quick LinksEntrez ID:54584; OMIM: 610778; Uniprot ID:GNB1L_HUMAN; ENSEMBL ID: ENSG00000185838; HGNC ID: 4397
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
21Phosphoserine(CDC2)HMM predict
21Phosphoserine(CDK)HMM predict
56Phosphothreonine(PKC)HMM predict
85Phosphoserine(ATM)HMM predict
150Phosphoserine(IKK)HMM predict
167S-palmitoylHMM predict
225Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_053004
  • Location:chr22 18155939-18222461
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 18222136 18223716 1580 465
Myc hESGSE17917 18222332 18222700 368 55
PHF8 293TGSE20725 18221379 18223687 2308 72
PHF8 HeLaGSE20725 18221755 18223526 1771 179
Rb shRbQuiescentGSE19898 18222737 18223003 266 409
Rb shRbSenescenceGSE19898 18222281 18222769 488 64
Rb shRbSenescenceGSE19898 18223105 18223449 344 816
TFAP2C MCF7GSE21234 18223011 18223619 608 854
p130 shRbQuiescentGSE19898 18222771 18223368 597 608
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 18154158 18154536 378 1593
hScc1 BcellGSE12603 18155349 18155577 228 477
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 18166541 18167661 1120 0
CTCF G2GSE9613 18170475 18170685 210 0
CTCF G2GSE9613 18191156 18191532 376 0
CTCF G2GSE9613 18221812 18222932 1120 0
FOXA1 MCF7GSE15244 18173978 18174955 977 0
Fos K562GSE19551 18173575 18174841 1266 0
FoxA1 MCF7MACSdata 18174018 18174388 370 0
H3ac HepG2E 18159804 18160096 292 0
KLF4 hESGSE17917 18183400 18183619 219 0
NFkBII GM15510GSE19485 18221580 18223212 1632 0
P300 T30-glioblastomaGSE21026 18166386 18167951 1565 0
RARA MCF7GSE15244 18191465 18192252 787 0
RARA MCF7GSE15244 18193507 18194051 544 0
RARG MCF7GSE15244 18174114 18174955 841 0
Rb GrowingGSE19898 18178285 18178444 159 0
Rb SenescentGSE19898 18222016 18222826 810 0
TFAP2C MCF7GSE21234 18173237 18174701 1464 0
TFAP2C MCF7GSE21234 18191166 18192641 1475 0
TFAP2C MCF7GSE21234 18193444 18193868 424 0
hScc1 BcellGSE12603 18165433 18165807 374 0
hScc1 BcellGSE12603 18168642 18168896 254 0
hScc1 BcellGSE12603 18172417 18172746 329 0
hScc1 BcellGSE12603 18174580 18175705 1125 0
hScc1 BcellGSE12603 18183470 18183813 343 0
hScc1 BcellGSE12603 18184348 18184558 210 0
hScc1 BcellGSE12603 18189100 18189440 340 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