AutismKB 2.0

Evidence Details for SLC9A5


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Basic Information Top
Gene Symbol:SLC9A5 ( NHE5 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 5
Band: 16q22.1
Quick LinksEntrez ID:6553; OMIM: 600477; Uniprot ID:SL9A5_HUMAN; ENSEMBL ID: ENSG00000135740; HGNC ID: 11078
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC9A5|6553|nucleotide
ATGCTGCGCGCCGCCCTGTCCCTGCTCGCGCTGCCCCTGGCGGGGGCGGCCGAAGAGCCCACCCAGAAGCCAGAGTCCCCGGGCGAGCCTCCCCCAGGCTTAGAG
CTCTTCCGCTGGCAGTGGCACGAGGTGGAGGCGCCCTACCTGGTGGCCCTGTGGATCCTGGTGGCCAGTCTGGCCAAAATCGTGTTTCACCTGTCTCGGAAAGTA
ACATCTCTGGTCCCTGAGAGCTGCCTGCTGATTTTGCTGGGCCTGGTGCTAGGGGGAATTGTTTTGGCTGTGGCCAAGAAAGCTGAGTACCAGCTGGAGCCAGGC
ACCTTCTTCCTCTTCCTGCTGCCTCCTATTGTGTTGGACTCAGGCTATTTCATGCCTAGCAGGCTGTTCTTTGACAACTTGGGTGCCATCCTCACCTATGCCGTG
GTAGGCACACTCTGGAATGCCTTCACAACAGGCGCTGCCCTCTGGGGCTTGCAGCAGGCTGGACTTGTAGCCCCTAGGGTGCAGGCTGGCTTACTGGACTTCCTG
CTGTTTGGGAGCCTCATCTCGGCGGTGGACCCCGTGGCCGTGCTAGCTGTCTTTGAGGAGGTGCACGTCAATGAGACTCTCTTTATCATCGTCTTTGGCGAGTCC
CTGCTCAACGATGCTGTCACCGTGGTGCTGTACAAGGTCTGCAACTCCTTTGTGGAGATGGGCTCTGCCAATGTGCAGGCCACTGACTACCTGAAGGGAGTCGCC
TCCCTGTTTGTGGTCAGTCTGGGCGGGGCAGCCGTGGGCTTAGTCTTTGCCTTCCTCCTGGCCCTGACCACACGCTTCACCAAGCGGGTCCGCATCATCGAGCCG
CTGCTGGTCTTCCTCCTCGCCTACGCAGCCTACCTCACTGCTGAAATGGCCTCGCTCTCCGCCATTCTTGCGGTGACCATGTGTGGCCTGGGCTGTAAGAAGTAC
GTGGAGGCCAACATCTCCCATAAGTCACGCACAACTGTCAAATATACAATGAAGACTCTAGCCAGCTGTGCTGAGACCGTGATCTTCATGCTGCTTGGCATCTCA
GCCGTGGACTCTTCTAAGTGGGCCTGGGATTCTGGGCTGGTGCTGGGCACCCTCATCTTCATCCTGTTCTTCCGAGCCCTCGGCGTAGTCCTGCAGACCTGGGTG
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>SLC9A5|6553|protein
MLRAALSLLALPLAGAAEEPTQKPESPGEPPPGLELFRWQWHEVEAPYLVALWILVASLAKIVFHLSRKVTSLVPESCLLILLGLVLGGIVLAVAKKAEYQLEPG
TFFLFLLPPIVLDSGYFMPSRLFFDNLGAILTYAVVGTLWNAFTTGAALWGLQQAGLVAPRVQAGLLDFLLFGSLISAVDPVAVLAVFEEVHVNETLFIIVFGES
LLNDAVTVVLYKVCNSFVEMGSANVQATDYLKGVASLFVVSLGGAAVGLVFAFLLALTTRFTKRVRIIEPLLVFLLAYAAYLTAEMASLSAILAVTMCGLGCKKY
VEANISHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWDSGLVLGTLIFILFFRALGVVLQTWVLNQFRLVPLDKIDQVVMSYGGLRGAVAFALVILLD
RTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKWLKVKRSEHHKPTLNQELHEHTFDHILAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIW
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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) 1 (2) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 13 (4)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top