AutismKB 2.0

Evidence Details for SH2D2A


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Basic Information Top
Gene Symbol:SH2D2A ( F2771,SCAP,TSAD,VRAP )
Gene Full Name: SH2 domain containing 2A
Band: 1q23.1
Quick LinksEntrez ID:9047; OMIM: 604514; Uniprot ID:SH22A_HUMAN; ENSEMBL ID: ENSG00000027869; HGNC ID: 10821
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH2D2A|9047|nucleotide
ATGGAGTTCCCCCTGGCCCAGATATGTCCCCAAGGGAGTCACGAAGCCCCCATCCCAACCTTCAGCACCTTCCAGATCACAGACATGACCCGCAGGAGCTGCCAG
AACCTGGGCTACACTGCGGCATCTCCCCAGGCCCCGGAGGCTGCCTCCAACACAGGGAATGCTGAGAGGGCAGAGGAGGTGCCTGGAGAAGGAAGCCTGTTCCTG
CAGGCCGAGACCCGGGCTTGGTTCCAGAAGACCCAGGCCCACTGGCTCCTGCAGCACGGGGCAGCCCCTGCCTGGTTCCATGGCTTCATCACCCGGAGGGTTCGG
CCCCCTCTCTCCGTCACCCACAGGGAGGCAGAGAGGCTGCTGGAGCCCAAGCCTCAGGGGTGCTACTTGGTGCGGTTCAGCGAGAGCGCGGTGACCTTCGTGCTG
ACTTACAGGAGCCGGACTTGCTGCCGCCACTTCCTGCTGGCCCAGCTCAGGGACGGGCGCCACGTGGTGCTGGGCGAGGACAGCGCCCACGCGCGGCTGCAGGAC
CTGCTGCTGCACTACACCGCGCACCCGCTCAGCCCCTACGGGGAGACGCTCACCGAGCCCCTCGCCCGACAGACTCCTGAGCCTGCAGGACTTTCCCTGAGGACC
GAAGAATCAAACTTTGGAAGCAAAAGCCAGGACCCAAACCCCCAGTACAGCCCAATCATCAAACAGGGGCAAGCCCCAGTCCCGATGCAGAAAGAGGGGGCCGGG
GAGAAGGAGCCCTCCCAGCTGCTCAGGCCCAAGCCTCCCATCCCCGCCAAACCTCAGCTGCCCCCAGAAGTCTACACAATCCCTGTTCCACGACACCGCCCGGCC
CCACGCCCCAAGCCCTCCAATCCTATCTACAATGAGCCTGATGAACCCATAGCTTTCTATGCCATGGGCCGGGGCAGCCCTGGGGAAGCCCCCAGCAACATCTAT
GTGGAAGTGGAAGATGAGGGCCTACCCGCCACCCTTGGGCACCCTGTCCTACGGAAGAGCTGGTCCAGGCCTGTCCCAGGAGGCCAGAATACAGGTGGCTCCCAG
CTGCATTCTGAGAACTCTGTGATTGGGCAAGGCCCTCCCCTGCCCCACCAGCCCCCACCCGCCTGGAGACACACCCTCCCCCACAATCTTTCTAGACAGGTGCTT
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>SH2D2A|9047|protein
MEFPLAQICPQGSHEAPIPTFSTFQITDMTRRSCQNLGYTAASPQAPEAASNTGNAERAEEVPGEGSLFLQAETRAWFQKTQAHWLLQHGAAPAWFHGFITRRVR
PPLSVTHREAERLLEPKPQGCYLVRFSESAVTFVLTYRSRTCCRHFLLAQLRDGRHVVLGEDSAHARLQDLLLHYTAHPLSPYGETLTEPLARQTPEPAGLSLRT
EESNFGSKSQDPNPQYSPIIKQGQAPVPMQKEGAGEKEPSQLLRPKPPIPAKPQLPPEVYTIPVPRHRPAPRPKPSNPIYNEPDEPIAFYAMGRGSPGEAPSNIY
VEVEDEGLPATLGHPVLRKSWSRPVPGGQNTGGSQLHSENSVIGQGPPLPHQPPPAWRHTLPHNLSRQVLQDRGQAWLPLGPPQ

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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) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top