AutismKB 2.0

Evidence Details for SHB


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Basic Information Top
Gene Symbol:SHB ( RP11-3J10.8,bA3J10.2 )
Gene Full Name: Src homology 2 domain containing adaptor protein B
Band: 9p13.1
Quick LinksEntrez ID:6461; OMIM: 600314; Uniprot ID:SHB_HUMAN; ENSEMBL ID: ENSG00000107338; HGNC ID: 10838
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SHB|6461|nucleotide
ATGGCCAAGTGGCTAAACAAGTACTTCAGCTTGGGCAACAGCAAGACCAAGAGCCCCCCGCAGCCGCCGCGGCCAGACTACCGCGAGCAGCGGCGCCGAGGCGAG
CGGCCTTCGCAGCCCCCCCAGGCCGTGCCGCAGGCCTCCTCCGCCGCCTCGGCGTCCTGCGGTCCGGCCACCGCCTCCTGCTTCTCAGCCTCTTCGGGCTCGCTG
CCCGACGACAGCGGCAGCACCAGCGACCTCATCCGCGCCTACCGCGCGCAGAAGGAGCGAGACTTCGAGGACCCCTACAACGGGCCTGGCTCGTCGCTGCGCAAA
CTGCGCGCCATGTGCCGCCTGGACTACTGCGGCGGCAGCGGGGAGCCAGGCGGGGTCCAGCGCGCCTTCTCGGCCTCGTCCGCGTCGGGCGCCGCGGGCTGTTGC
TGCGCCTCCTCGGGCGCGGGGGCCGCCGCGTCCTCGTCCTCGTCCTCCGGCTCTCCGCATCTCTACCGCAGCAGCAGCGAGCGGCGGCCCGCCACGCCGGCCGAG
GTGCGCTACATCTCCCCCAAGCACCGCCTCATCAAAGTGGAGAGCGCCGCGGGCGGTGGGGCCGGGGACCCCCTGGGGGGCGCCTGCGCGGGCGGCCGCACCTGG
AGCCCGACGGCCTGCGGAGGCAAGAAACTGCTCAACAAGTGCGCCGCCTCAGCCGCGGAGGAGAGCGGGGCCGGCAAGAAGGACAAGGTGACCATAGCCGATGAC
TACTCAGATCCCTTTGATGCCAAGAATGATCTCAAGAGCAAAGCAGGAAAGGGGGAGAGTGCTGGCTACATGGAGCCCTATGAGGCACAGAGGATCATGACAGAA
TTTCAGAGGCAGGAAAGTGTCCGGTCCCAGCATAAAGGTATCCAGTTATATGACACCCCTTACGAACCTGAAGGCCAAAGTGTTGACTCAGACTCGGAGAGCACA
GTCAGCCCCCGACTGCGGGAGAGCAAGCTGCCCCAGGATGACGACAGGCCCGCCGATGAGTACGACCAGCCTTGGGAGTGGAACCGGGTCACCATCCCAGCCCTG
GCAGCACAGTTTAATGGCAACGAGAAGCGGCAGTCATCCCCCTCACCTTCGCGGGACCGGCGGCGCCAGCTTCGTGCCCCTGGAGGGGGCTTTAAGCCTATCAAA
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>SHB|6461|protein
MAKWLNKYFSLGNSKTKSPPQPPRPDYREQRRRGERPSQPPQAVPQASSAASASCGPATASCFSASSGSLPDDSGSTSDLIRAYRAQKERDFEDPYNGPGSSLRK
LRAMCRLDYCGGSGEPGGVQRAFSASSASGAAGCCCASSGAGAAASSSSSSGSPHLYRSSSERRPATPAEVRYISPKHRLIKVESAAGGGAGDPLGGACAGGRTW
SPTACGGKKLLNKCAASAAEESGAGKKDKVTIADDYSDPFDAKNDLKSKAGKGESAGYMEPYEAQRIMTEFQRQESVRSQHKGIQLYDTPYEPEGQSVDSDSEST
VSPRLRESKLPQDDDRPADEYDQPWEWNRVTIPALAAQFNGNEKRQSSPSPSRDRRRQLRAPGGGFKPIKHGSPEFCGILGERVDPAVPLEKQIWYHGAISRGDA
ENLLRLCKECSYLVRNSQTSKHDYSLSLRSNQGFMHMKLAKTKEKYVLGQNSPPFDSVPEVIHYYTTRKLPIKGAEHLSLLYPVAVRTL
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top