AutismKB 2.0

Evidence Details for SLC12A5


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Basic Information Top
Gene Symbol:SLC12A5 ( KCC2,KIAA1176 )
Gene Full Name: solute carrier family 12 (potassium/chloride transporter), member 5
Band: 20q13.12
Quick LinksEntrez ID:57468; OMIM: 606726; Uniprot ID:S12A5_HUMAN; ENSEMBL ID: ENSG00000124140; HGNC ID: 13818
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC12A5|57468|nucleotide
ATGAGCCGCAGGTTCACGGTCACCTCGCTGCCCCCCGCAGGGCCCGCCAGAAGCCCTGACCCAGAGTCCCGCCGGCATTCGGTCGCAGACCCCCGCCACCTCCCG
GGGGAAGACGTCAAAGGTGATGGCAACCCCAAGGAAAGCAGTCCCTTCATCAACAGCACCGACACAGAGAAGGGAAAGGAGTATGATGGCAAGAACATGGCCTTG
TTTGAGGAGGAGATGGACACCAGCCCTATGGTGTCCTCCTTGCTCAGTGGCCTGGCCAACTACACCAACCTGCCCCAGGGAAGTAGGGAGCATGAAGAGGCAGAA
AACAATGAGGGTGGAAAAAAGAAGCCGGTGCAGGCCCCACGCATGGGCACCTTCATGGGCGTGTACCTGCCGTGCCTGCAGAACATCTTTGGCGTCATCCTCTTC
CTGCGGCTCACCTGGGTGGTGGGCATTGCAGGCATCATGGAGTCCTTCTGCATGGTGTTCATCTGCTGCTCCTGTACGATGCTCACGGCCATCTCCATGAGTGCA
ATTGCAACGAATGGTGTTGTGCCTGCTGGTGGCTCCTACTACATGATTTCCAGGTCTCTGGGCCCAGAGTTTGGGGGTGCCGTGGGCCTCTGCTTCTACCTGGGC
ACTACCTTTGCAGGAGCCATGTACATCCTGGGCACCATCGAAATCCTGCTGGCTTACCTCTTCCCAGCCATGGCCATCTTCAAGGCAGAAGATGCCAGTGGGGAG
GCAGCAGCCATGCTGAACAACATGCGTGTTTACGGCACCTGTGTGCTCACCTGCATGGCCACTGTGGTGTTTGTGGGTGTCAAGTATGTCAACAAGTTTGCCCTT
GTCTTCCTGGGTTGTGTCATCCTCTCCATCCTGGCCATCTATGCTGGGGTCATCAAGTCTGCCTTCGACCCACCCAACTTCCCGATCTGCCTCCTGGGTAACCGC
ACGCTGTCTCGCCATGGCTTTGATGTCTGTGCCAAGCTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTATGGGGCCTTTTCTGCTCCTCTCGCTTCCTC
AACGCCACCTGTGATGAATACTTCACCCGAAACAATGTCACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATCAAAGAGAACCTCTGGAGCTCCTAC
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>SLC12A5|57468|protein
MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKGKEYDGKNMALFEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAE
NNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLG
TTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKSAFDPPNFPICLLGNR
TLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTRNNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT
SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFGEAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top