AutismKB 2.0

Evidence Details for G3BP2


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Basic Information Top
Gene Symbol:G3BP2 ( - )
Gene Full Name: GTPase activating protein (SH3 domain) binding protein 2
Band: 4q21.1
Quick LinksEntrez ID:9908; OMIM: NA; Uniprot ID:G3BP2_HUMAN; ENSEMBL ID: ENSG00000138757; HGNC ID: 30291
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>G3BP2|9908|nucleotide
ATGGTTATGGAGAAGCCCAGTCCGCTGCTTGTAGGGCGGGAGTTTGTGAGGCAATATTATACTTTGCTGAATAAAGCTCCGGAATATTTACACAGGTTTTATGGC
AGGAATTCTTCCTATGTTCATGGTGGAGTAGATGCTAGTGGAAAGCCCCAGGAAGCTGTTTATGGCCAAAATGATATACACCACAAAGTATTATCTCTGAACTTC
AGTGAATGTCATACTAAAATTCGTCATGTGGATGCTCATGCAACCTTGAGTGATGGAGTAGTTGTCCAGGTCATGGGTTTGCTGTCTAACAGTGGACAACCAGAA
AGAAAGTTTATGCAAACCTTTGTTCTGGCTCCTGAAGGATCTGTTCCAAATAAATTTTATGTTCACAATGATATGTTTCGTTATGAAGATGAAGTGTTTGGTGAT
TCTGAGCCTGAACTTGATGAAGAATCAGAAGATGAAGTAGAAGAGGAACAAGAAGAAAGACAACCATCTCCTGAACCTGTGCAAGAAAATGCTAACAGTGGTTAC
TATGAAGCTCACCCTGTGACTAATGGCATAGAGGAGCCTTTGGAAGAATCCTCTCATGAACCTGAACCTGAGCCAGAATCTGAAACAAAGACTGAAGAGCTGAAA
CCACAAGTGGAGGAGAAGAACTTAGAAGAACTAGAGGAGAAATCTACTACTCCTCCTCCGGCAGAACCTGTTTCTCTGCCACAAGAACCACCAAAGGCTTTCTCC
TGGGCTTCAGTGACCAGTAAAAACCTGCCTCCTAGTGGTACTGTTTCTTCCTCTGGAATTCCACCCCATGTTAAAGCACCAGTCTCACAGCCAAGAGTCGAAGCT
AAACCAGAAGTTCAATCTCAGCCACCTCGTGTGCGTGAACAACGACCTAGAGAACGACCTGGTTTTCCTCCTAGAGGACCAAGACCAGGCAGAGGAGATATGGAA
CAGAATGACTCTGACAACCGTAGAATAATTCGCTATCCAGATAGTCATCAACTTTTTGTTGGTAACTTGCCACATGATATTGATGAAAATGAGCTAAAGGAATTC
TTCATGAGTTTTGGAAACGTTGTGGAACTTCGCATCAATACCAAGGGTGTTGGGGGAAAGCTTCCAAATTTTGGTTTTGTGGTTTTTGATGACTCTGAACCAGTT
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>G3BP2|9908|protein
MVMEKPSPLLVGREFVRQYYTLLNKAPEYLHRFYGRNSSYVHGGVDASGKPQEAVYGQNDIHHKVLSLNFSECHTKIRHVDAHATLSDGVVVQVMGLLSNSGQPE
RKFMQTFVLAPEGSVPNKFYVHNDMFRYEDEVFGDSEPELDEESEDEVEEEQEERQPSPEPVQENANSGYYEAHPVTNGIEEPLEESSHEPEPEPESETKTEELK
PQVEEKNLEELEEKSTTPPPAEPVSLPQEPPKAFSWASVTSKNLPPSGTVSSSGIPPHVKAPVSQPRVEAKPEVQSQPPRVREQRPRERPGFPPRGPRPGRGDME
QNDSDNRRIIRYPDSHQLFVGNLPHDIDENELKEFFMSFGNVVELRINTKGVGGKLPNFGFVVFDDSEPVQRILIAKPIMFRGEVRLNVEEKKTRAARERETRGG
GDDRRDIRRNDRGPGGPRGIVGGGMMRDRDGRGPPPRGGMAQKLGSGRGTGQMEGRFTGQRR
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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 (1) 0 (0) 0 (0) 2 (2) 0 (1) 0 (1) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top