AutismKB 2.0

Evidence Details for SCNN1D


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Basic Information Top
Gene Symbol:SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh )
Gene Full Name: sodium channel, nonvoltage-gated 1, delta
Band: 1p36.33
Quick LinksEntrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572; HGNC ID: 10601
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCNN1D|6339|nucleotide
ATGAGGGCAGTGCTGTCACAGAAGACAACACCGCTCCCTCGTTACCTGTGGCCCGGCCACCTCAGCGGCCCAAGGAGGCTCACCTGGTCATGGTGCAGTGACCAC
AGGACCCCCACATGCCGGGAGCTGGGTTCGCCCCACCCCACCCCCTGCACCGGGCCAGCGAGGGGATGGCCCAGAAGAGGGGGAGGACCATGTGGATTCACCAGT
GCTGGACATGTGCTCTGTGGCTACCCCCTCTGCCTACTCTCTGGCCCGATACAGGGGTGTGGGACAGGCCTGGGTGACTCCAGCATGGCTTTCCTCTCCAGGACG
TCACCGGTGGCAGCTGCTTCCTTCCAGAGCCGGCAGGAGGCCAGAGGCTCCATCCTGCTTCAGAGCTGCCAGCTGCCCCCGCAATGGCTGAGCACCGAAGCATGG
ACGGGAGAATGGAAGCAGCCACACGGGGGGGCTCTCACCTCCAGATCGCCTGGGCCTGTGGCTCCCCAGAGGCCCTGCCACCTGAAGGGATGGCAGCACAGACCC
ACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGCTGCAGCCCAGACGCCCCCCAGGCCGGGGCCACCATCAGCACCACCACCACCACCCAAGGAGGGGCACCAG
GAGGGGCTGGTGGAGCTGCCCGCCTCGTTCCGGGAGCTGCTCACCTTCTTCTGCACCAATGCCACCATCCACGGCGCCATCCGCCTGGTCTGCTCCCGCGGGAAC
CGCCTCAAGACGACGTCCTGGGGGCTGCTGTCCCTGGGAGCCCTGGTCGCGCTCTGCTGGCAGCTGGGGCTCCTCTTTGAGCGTCACTGGCACCGCCCGGTCCTC
ATGGCCGTCTCTGTGCACTCGGAGCGCAAGCTGCTCCCGCTGGTCACCCTGTGTGACGGGAACCCACGTCGGCCGAGTCCGGTCCTCCGCCATCTGGAGCTGCTG
GACGAGTTTGCCAGGGAGAACATTGACTCCCTGTACAACGTCAACCTCAGCAAAGGCAGAGCCGCCCTCTCCGCCACTGTCCCCCGCCACGAGCCCCCCTTCCAC
CTGGACCGGGAGATCCGTCTGCAGAGGCTGAGCCACTCGGGCAGCCGGGTCAGAGTGGGGTTCAGACTGTGCAACAGCACGGGCGGCGACTGCTTTTACCGAGGC
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>SCNN1D|6339|protein
MRAVLSQKTTPLPRYLWPGHLSGPRRLTWSWCSDHRTPTCRELGSPHPTPCTGPARGWPRRGGGPCGFTSAGHVLCGYPLCLLSGPIQGCGTGLGDSSMAFLSRT
SPVAAASFQSRQEARGSILLQSCQLPPQWLSTEAWTGEWKQPHGGALTSRSPGPVAPQRPCHLKGWQHRPTQHNAACKQGQAAAQTPPRPGPPSAPPPPPKEGHQ
EGLVELPASFRELLTFFCTNATIHGAIRLVCSRGNRLKTTSWGLLSLGALVALCWQLGLLFERHWHRPVLMAVSVHSERKLLPLVTLCDGNPRRPSPVLRHLELL
DEFARENIDSLYNVNLSKGRAALSATVPRHEPPFHLDREIRLQRLSHSGSRVRVGFRLCNSTGGDCFYRGYTSGVAAVQDWYHFHYVDILALLPAAWEDSHGSQD
GHFVLSCSYDGLDCQARQFRTFHHPTYGSCYTVDGVWTAQRPGITHGVGLVLRVEQQPHLPLLSTLAGIRVMVHGRNHTPFLGHHSFSVRPGTEATISIREDEVH
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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 (4) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (6)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top