AutismKB 2.0

Evidence Details 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
Sequences Top
>G3BP1|10146|nucleotide
ATGGTGATGGAGAAGCCTAGTCCCCTGCTGGTCGGGCGGGAATTTGTGAGACAGTATTACACACTGCTGAACCAGGCCCCAGACATGCTGCATAGATTTTATGGA
AAGAACTCTTCTTATGTCCATGGGGGATTGGATTCAAATGGAAAGCCAGCAGATGCAGTCTACGGACAGAAAGAAATCCACAGGAAAGTGATGTCACAAAACTTC
ACCAACTGCCACACCAAGATTCGCCATGTTGATGCTCATGCCACGCTAAATGATGGTGTGGTAGTCCAGGTGATGGGGCTTCTCTCTAACAACAACCAGGCTTTG
AGGAGATTCATGCAAACGTTTGTCCTTGCTCCTGAGGGGTCTGTTGCAAATAAATTCTATGTTCACAATGATATCTTCAGATACCAAGATGAGGTCTTTGGTGGG
TTTGTCACTGAGCCTCAGGAGGAGTCTGAAGAAGAAGTAGAGGAACCTGAAGAAAGACAGCAAACACCTGAGGTGGTACCTGATGATTCTGGAACTTTCTATGAT
CAGGCAGTTGTCAGTAATGACATGGAAGAACATTTAGAGGAGCCTGTTGCTGAACCAGAGCCTGATCCTGAACCAGAACCAGAACAAGAACCTGTATCTGAAATC
CAAGAGGAAAAGCCTGAGCCAGTATTAGAAGAAACTGCCCCTGAGGATGCTCAGAAGAGTTCTTCTCCAGCACCTGCAGACATAGCTCAGACAGTACAGGAAGAC
TTGAGGACATTTTCTTGGGCATCTGTGACCAGTAAGAATCTTCCACCCAGTGGAGCTGTTCCAGTTACTGGGATACCACCTCATGTTGTTAAAGTACCAGCTTCA
CAGCCCCGTCCAGAGTCTAAGCCTGAATCTCAGATTCCACCACAAAGACCTCAGCGGGATCAAAGAGTGCGAGAACAACGAATAAATATTCCTCCCCAAAGGGGA
CCCAGACCAATCCGTGAGGCTGGTGAGCAAGGTGACATTGAACCCCGAAGAATGGTGAGACACCCTGACAGTCACCAACTCTTCATTGGCAACCTGCCTCATGAA
GTGGACAAATCAGAGCTTAAAGATTTCTTTCAAAGTTATGGAAACGTGGTGGAGTTGCGCATTAACAGTGGTGGGAAATTACCCAATTTTGGTTTTGTTGTGTTT
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>G3BP1|10146|protein
MVMEKPSPLLVGREFVRQYYTLLNQAPDMLHRFYGKNSSYVHGGLDSNGKPADAVYGQKEIHRKVMSQNFTNCHTKIRHVDAHATLNDGVVVQVMGLLSNNNQAL
RRFMQTFVLAPEGSVANKFYVHNDIFRYQDEVFGGFVTEPQEESEEEVEEPEERQQTPEVVPDDSGTFYDQAVVSNDMEEHLEEPVAEPEPDPEPEPEQEPVSEI
QEEKPEPVLEETAPEDAQKSSSPAPADIAQTVQEDLRTFSWASVTSKNLPPSGAVPVTGIPPHVVKVPASQPRPESKPESQIPPQRPQRDQRVREQRINIPPQRG
PRPIREAGEQGDIEPRRMVRHPDSHQLFIGNLPHEVDKSELKDFFQSYGNVVELRINSGGKLPNFGFVVFDDSEPVQKVLSNRPIMFRGEVRLNVEEKKTRAARE
GDRRDNRLRGPGGPRGGLGGGMRGPPRGGMVQKPGFGVGRGLAPRQ
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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