AutismKB 2.0

Evidence Details for SOX10


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Basic Information Top
Gene Symbol:SOX10 ( DOM,MGC15649,PCWH,WS2E,WS4,WS4C )
Gene Full Name: SRY (sex determining region Y)-box 10
Band: 22q13.1
Quick LinksEntrez ID:6663; OMIM: 602229; Uniprot ID:SOX10_HUMAN; ENSEMBL ID: ENSG00000100146; HGNC ID: 11190
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SOX10|6663|nucleotide
ATGGCGGAGGAGCAGGACCTATCGGAGGTGGAGCTGAGCCCCGTGGGCTCGGAGGAGCCCCGCTGCCTGTCCCCGGGGAGCGCGCCCTCGCTAGGGCCCGACGGC
GGCGGCGGCGGATCGGGCCTGCGAGCCAGCCCGGGGCCAGGCGAGCTGGGCAAGGTCAAGAAGGAGCAGCAGGACGGCGAGGCGGACGATGACAAGTTCCCCGTG
TGCATCCGCGAGGCCGTCAGCCAGGTGCTCAGCGGCTACGACTGGACGCTGGTGCCCATGCCCGTGCGCGTCAACGGCGCCAGCAAAAGCAAGCCGCACGTCAAG
CGGCCCATGAACGCCTTCATGGTGTGGGCTCAGGCAGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACCTGCACAACGCTGAGCTCAGCAAGACGCTGGGCAAG
CTCTGGAGGCTGCTGAACGAAAGTGACAAGCGCCCCTTCATCGAGGAGGCTGAGCGGCTCCGTATGCAGCACAAGAAAGACCACCCGGACTACAAGTACCAGCCC
AGGCGGCGGAAGAACGGGAAGGCCGCCCAGGGCGAGGCGGAGTGCCCCGGTGGGGAGGCCGAGCAAGGTGGGACCGCCGCCATCCAGGCCCACTACAAGAGCGCC
CACTTGGACCACCGGCACCCAGGAGAGGGCTCCCCCATGTCAGATGGGAACCCCGAGCACCCCTCAGGCCAGAGCCATGGCCCACCCACCCCTCCAACCACCCCG
AAGACAGAGCTGCAGTCGGGCAAGGCAGACCCGAAGCGGGACGGGCGCTCCATGGGGGAGGGCGGGAAGCCTCACATCGACTTCGGCAACGTGGACATTGGTGAG
ATCAGCCACGAGGTAATGTCCAACATGGAGACCTTTGATGTGGCTGAGTTGGACCAGTACCTGCCGCCCAATGGGCACCCAGGCCATGTGAGCAGCTACTCAGCA
GCCGGCTATGGGCTGGGCAGTGCCCTGGCCGTGGCCAGTGGACACTCCGCCTGGATCTCCAAGCCACCAGGCGTGGCTCTGCCCACGGTCTCACCACCTGGTGTG
GATGCCAAAGCCCAGGTGAAGACAGAGACCGCGGGGCCCCAGGGGCCCCCACACTACACCGACCAGCCATCCACCTCACAGATCGCCTACACCTCCCTCAGCCTG
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>SOX10|6663|protein
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVK
RPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSA
HLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSA
AGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASG
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top