AutismKB 2.0

Annotation Detail for G3BP1


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Basic Information Top
Gene Symbol:G3BP1 ( G3BP,HDH-VIII,MGC111040 )
Gene Full Name: GTPase activating protein (SH3 domain) binding protein 1
Band: 5q33.1
Quick LinksEntrez ID:10146; OMIM: 608431; Uniprot ID:G3BP1_HUMAN; ENSEMBL ID: ENSG00000145907; HGNC ID: 30292
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
143Phosphothreonine.
149Phosphoserine.
230Phosphoserine.
231Phosphoserine.
232Phosphoserine.
268Phosphothreonine (By similarity).
373Phosphoserine.
376N6-acetyllysine.
435Dimethylated arginine; alternate.
435Omega-N-methylarginine; alternate.
447Omega-N-methylated arginine.
460Dimethylated arginine; alternate.
460Omega-N-methylated arginine; alternate.
465Omega-N-methylated arginine.
Location(AA) Modifications Resource
149Phosphoserine.Swiss-Prot 53.0
149PhosphoserinePhospho.ELM 6.0
230PhosphoserinePhospho.ELM 6.0
231PhosphoserinePhospho.ELM 6.0
232Phosphoserine.Swiss-Prot 53.0
232PhosphoserinePhospho.ELM 6.0
268Phosphothreonine (By similarity).Swiss-Prot 53.0
435Omega-N-methylated arginine.Swiss-Prot 53.0
447Omega-N-methylated arginine.Swiss-Prot 53.0
460Omega-N-methylated arginine.Swiss-Prot 53.0
465Omega-N-methylated arginine.Swiss-Prot 53.0
Location(AA) Modification Resource
37N-linkedHMM predict
69N-linkedHMM predict
72N-linkedHMM predict
149PhosphoserineHMM predict
149Phosphoserine(CK1)HMM predict
230O-linkedHMM predict
231Phosphoserine(IKK)HMM predict
232PhosphoserineHMM predict
232Phosphoserine(CDC2)HMM predict
250Phosphoserine(CAMK2)HMM predict
262O-linkedHMM predict
280Phosphoserine(IKK)HMM predict
280Phosphoserine(ATM)HMM predict
286Phosphoserine(IKK)HMM predict
415Phosphothreonine(PKC)HMM predict
435MethylarginineHMM predict
447MethylarginineHMM predict
460MethylarginineHMM predict
460ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005754
  • Location:chr5 151131668-151165105
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 151130347 151131381 1034 805
Oct1 HelaGSE14283 151126615 151126656 41 5033
P300 T30-glioblastomaGSE21026 151130464 151132275 1811 299
PHF8 HeLaGSE20725 151130066 151132668 2602 302
TFAP2C MCF7GSE21234 151130907 151131881 974 275
hScc1 BcellGSE12603 151130489 151131729 1240 560
hScc1 CdLSGSE12603 151130347 151131547 1200 722
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 151169774 151169809 35 4686
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 151132546 151133190 644 0
ETS1 JurkatGSE17954 151130645 151132772 2127 0
FoxA1 MCF7MACSdata 151139415 151139907 492 0
H3K4me3 colorectalcancer 151132271 151133190 919 0
H3ac HepG2E 151132271 151133300 1029 0
LIN9 G0GSE7516 151132546 151133190 644 0
Oct1 H2O2-HelaGSE14283 151140687 151140716 29 0
PHF8 293TGSE20725 151131496 151132291 795 0
Rb QuiescentGSE19898 151132785 151133163 378 0
Rb SenescentGSE19898 151132114 151133128 1014 0
Stat6 IL-4-hr4GSE17850 151153017 151153519 502 0
TAF HelaGSE8489 151132546 151133222 676 0
TAF HelaGSE8489 151133613 151133970 357 0
TAF k562GSE8489 151132298 151133259 961 0
TFAP2C MCF7GSE21234 151144772 151145100 328 0
p130 QuiescentGSE19898 151132438 151132984 546 0
p130 SenescentGSE19898 151132154 151133156 1002 0
p130 shRbSenescentGSE19898 151132110 151133127 1017 0
p130 G0GSE7516 151132546 151133082 536 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21694 mRNA G3BP chr5 151131668 151165106 528 EST chr5 151164139 151165063Sense/Antisense (SA) pairs

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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