Evidence Details for SCN10A


Gene Symbol: | SCN10A ( Nav1.8,PN3,SNS,hPN3 ) |
---|---|
Gene Full Name: | sodium channel, voltage-gated, type X, alpha subunit |
Band: | 3p22.2 |
Quick Links | Entrez ID:6336; OMIM: 604427; Uniprot ID:SCNAA_HUMAN; ENSEMBL ID: ENSG00000185313; HGNC ID: 10582 |
Relate to Another Database: | SFARIGene; denovo-db |


>SCN10A|6336|nucleotide
ATGGAATTCCCCATTGGATCCCTCGAAACTAACAACTTCCGTCGCTTTACTCCGGAGTCACTGGTGGAGATAGAGAAGCAAATTGCTGCCAAGCAGGGAACAAAG
AAAGCCAGAGAGAAGCATAGGGAGCAGAAGGACCAAGAAGAGAAGCCTCGGCCCCAGCTGGACTTGAAAGCCTGCAACCAGCTGCCCAAGTTCTATGGTGAGCTC
CCAGCAGAACTGATCGGGGAGCCCCTGGAGGATCTAGATCCGTTCTACAGCACACACCGGACATTTATGGTGCTGAACAAAGGGAGGACCATTTCCCGGTTTAGT
GCCACTCGGGCCCTGTGGCTATTCAGTCCTTTCAACCTGATCAGAAGAACGGCCATCAAAGTGTCTGTCCACTCGTGGTTCAGTTTATTTATTACGGTCACTATT
TTGGTTAATTGTGTGTGCATGACCCGAACTGACCTTCCAGAGAAAATTGAATATGTCTTCACTGTCATTTACACCTTTGAAGCCTTGATAAAGATACTGGCAAGA
GGATTTTGTCTAAATGAGTTCACGTACCTGAGAGATCCTTGGAACTGGCTGGATTTTAGCGTCATTACCCTGGCATATGTTGGCACAGCAATAGATCTCCGTGGG
ATCTCAGGCCTGCGGACATTCAGAGTTCTTAGAGCATTAAAAACAGTTTCTGTGATCCCAGGCCTGAAGGTCATTGTGGGGGCCCTGATTCACTCAGTGAAGAAA
CTGGCTGATGTGACCATCCTCACCATCTTCTGCCTAAGTGTTTTTGCCTTGGTGGGGCTGCAACTCTTCAAGGGCAACCTCAAAAATAAATGTGTCAAGAATGAC
ATGGCTGTCAATGAGACAACCAACTACTCATCTCACAGAAAACCAGATATCTACATAAATAAGCGAGGCACTTCTGACCCCTTACTGTGTGGCAATGGATCTGAC
TCAGGCCACTGCCCTGATGGTTATATCTGCCTTAAAACTTCTGACAACCCGGATTTTAACTACACCAGCTTTGATTCCTTTGCTTGGGCTTTCCTCTCACTGTTC
CGCCTCATGACACAGGATTCCTGGGAACGCCTCTACCAGCAGACCCTGAGGACTTCTGGGAAAATCTATATGATCTTTTTTGTGCTCGTAATCTTCCTGGGATCT
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ATGGAATTCCCCATTGGATCCCTCGAAACTAACAACTTCCGTCGCTTTACTCCGGAGTCACTGGTGGAGATAGAGAAGCAAATTGCTGCCAAGCAGGGAACAAAG
AAAGCCAGAGAGAAGCATAGGGAGCAGAAGGACCAAGAAGAGAAGCCTCGGCCCCAGCTGGACTTGAAAGCCTGCAACCAGCTGCCCAAGTTCTATGGTGAGCTC
CCAGCAGAACTGATCGGGGAGCCCCTGGAGGATCTAGATCCGTTCTACAGCACACACCGGACATTTATGGTGCTGAACAAAGGGAGGACCATTTCCCGGTTTAGT
GCCACTCGGGCCCTGTGGCTATTCAGTCCTTTCAACCTGATCAGAAGAACGGCCATCAAAGTGTCTGTCCACTCGTGGTTCAGTTTATTTATTACGGTCACTATT
TTGGTTAATTGTGTGTGCATGACCCGAACTGACCTTCCAGAGAAAATTGAATATGTCTTCACTGTCATTTACACCTTTGAAGCCTTGATAAAGATACTGGCAAGA
GGATTTTGTCTAAATGAGTTCACGTACCTGAGAGATCCTTGGAACTGGCTGGATTTTAGCGTCATTACCCTGGCATATGTTGGCACAGCAATAGATCTCCGTGGG
ATCTCAGGCCTGCGGACATTCAGAGTTCTTAGAGCATTAAAAACAGTTTCTGTGATCCCAGGCCTGAAGGTCATTGTGGGGGCCCTGATTCACTCAGTGAAGAAA
CTGGCTGATGTGACCATCCTCACCATCTTCTGCCTAAGTGTTTTTGCCTTGGTGGGGCTGCAACTCTTCAAGGGCAACCTCAAAAATAAATGTGTCAAGAATGAC
ATGGCTGTCAATGAGACAACCAACTACTCATCTCACAGAAAACCAGATATCTACATAAATAAGCGAGGCACTTCTGACCCCTTACTGTGTGGCAATGGATCTGAC
TCAGGCCACTGCCCTGATGGTTATATCTGCCTTAAAACTTCTGACAACCCGGATTTTAACTACACCAGCTTTGATTCCTTTGCTTGGGCTTTCCTCTCACTGTTC
CGCCTCATGACACAGGATTCCTGGGAACGCCTCTACCAGCAGACCCTGAGGACTTCTGGGAAAATCTATATGATCTTTTTTGTGCTCGTAATCTTCCTGGGATCT
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>SCN10A|6336|protein
MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKACNQLPKFYGELPAELIGEPLEDLDPFYSTHRTFMVLNKGRTISRFS
ATRALWLFSPFNLIRRTAIKVSVHSWFSLFITVTILVNCVCMTRTDLPEKIEYVFTVIYTFEALIKILARGFCLNEFTYLRDPWNWLDFSVITLAYVGTAIDLRG
ISGLRTFRVLRALKTVSVIPGLKVIVGALIHSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKNDMAVNETTNYSSHRKPDIYINKRGTSDPLLCGNGSD
SGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLFRLMTQDSWERLYQQTLRTSGKIYMIFFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQE
ALEMLRKEQEVLAALGIDTTSLHSHNGSPLTSKNASERRHRIKPRVSEGSTEDNKSPRSDPYNQRRMSFLGLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGV
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MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKACNQLPKFYGELPAELIGEPLEDLDPFYSTHRTFMVLNKGRTISRFS
ATRALWLFSPFNLIRRTAIKVSVHSWFSLFITVTILVNCVCMTRTDLPEKIEYVFTVIYTFEALIKILARGFCLNEFTYLRDPWNWLDFSVITLAYVGTAIDLRG
ISGLRTFRVLRALKTVSVIPGLKVIVGALIHSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKNDMAVNETTNYSSHRKPDIYINKRGTSDPLLCGNGSD
SGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLFRLMTQDSWERLYQQTLRTSGKIYMIFFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQE
ALEMLRKEQEVLAALGIDTTSLHSHNGSPLTSKNASERRHRIKPRVSEGSTEDNKSPRSDPYNQRRMSFLGLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGV
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Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (3) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |










Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |




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