AutismKB 2.0

Evidence Details for SNTB1


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Basic Information Top
Gene Symbol:SNTB1 ( 59-DAP,A1B,BSYN2,DAPA1B,FLJ22442,MGC111389,SNT2,SNT2B1,TIP-43 )
Gene Full Name: syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
Band: 8q24.12
Quick LinksEntrez ID:6641; OMIM: 600026; Uniprot ID:SNTB1_HUMAN; ENSEMBL ID: ENSG00000172164; HGNC ID: 11168
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNTB1|6641|nucleotide
ATGGCGGTAGCGGCGGCGGCGGCGGCGGCTGGGCCGGCTGGCGCGGGAGGCGGCCGGGCGCAGCGGAGCGGGCTGCTGGAAGTTTTGGTGCGGGATCGCTGGCAC
AAAGTTCTGGTGAACTTGAGCGAGGACGCCCTGGTTCTGAGCAGCGAGGAGGGCGCTGCGGCGTACAACGGCATCGGGACCGCCACCAATGGCTCGTTCTGCAGG
GGCGCCGGGGCTGGGCACCCGGGCGCGGGCGGCGCGCAGCCCCCGGACTCGCCCGCCGGGGTCCGCACCGCTTTCACCGACCTGCCCGAGCAGGTGCCCGAGTCC
ATCTCGAACCAGAAGCGTGGCGTGAAGGTGCTGAAGCAGGAGCTGGGCGGGCTGGGGATCAGCATCAAGGGGGGCAAGGAGAACAAGATGCCCATCCTCATCAGC
AAGATCTTCAAGGGGCTGGCGGCGGACCAGACCCAAGCCCTGTACGTGGGCGACGCCATCCTGTCCGTGAACGGAGCCGACCTGCGGGACGCCACCCACGACGAG
GCGGTGCAGGCGTTGAAGCGCGCGGGCAAGGAAGTGCTGCTGGAAGTGAAGTACATGCGAGAAGCCACGCCCTATGTGAAGAAAGGATCCCCAGTATCCGAGATT
GGGTGGGAAACACCTCCGCCTGAATCCCCTCGGTTAGGGGGCAGCACCTCAGACCCCCCGTCATCGCAGTCCTTCTCCTTCCACAGAGACCGGAAAAGCATCCCC
CTCAAAATGTGCTACGTCACTCGGAGTATGGCCTTGGCCGACCCTGAGAACAGGCAGCTTGAAATCCACTCTCCAGATGCTAAGCACACGGTGATCCTAAGGAGC
AAGGACTCAGCCACGGCCCAGGCATGGTTCAGTGCCATCCATTCCAACGTTAATGACCTGCTGACCCGAGTGATTGCTGAGGTCAGAGAGCAGCTGGGGAAAACA
GGCATTGCTGGGAGCCGAGAGATTAGGCATCTTGGCTGGCTTGCAGAAAAGGTGCCAGGGGAGAGCAAGAAACAGTGGAAACCAGCCCTGGTTGTGCTGACTGAG
AAAGACCTTTTAATCTATGACAGCATGCCACGGAGGAAGGAAGCCTGGTTCAGCCCAGTTCACACATACCCTCTTCTTGCCACCAGGCTGGTCCATTCAGGTCCA
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>SNTB1|6641|protein
MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGIGTATNGSFCRGAGAGHPGAGGAQPPDSPAGVRTAFTDLPEQVPES
ISNQKRGVKVLKQELGGLGISIKGGKENKMPILISKIFKGLAADQTQALYVGDAILSVNGADLRDATHDEAVQALKRAGKEVLLEVKYMREATPYVKKGSPVSEI
GWETPPPESPRLGGSTSDPPSSQSFSFHRDRKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDLLTRVIAEVREQLGKT
GIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMPRRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCHNSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQSPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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