AutismKB 2.0

Evidence Details for MUC6


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Basic Information Top
Gene Symbol:MUC6 ( MUC-6 )
Gene Full Name: mucin 6, oligomeric mucus/gel-forming
Band: 11p15.5
Quick LinksEntrez ID:4588; OMIM: 158374; Uniprot ID:MUC6_HUMAN; ENSEMBL ID: ENSG00000184956; HGNC ID: 7517
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUC6|4588|nucleotide
ATGGTCCAGCGGTGGCTGCTGCTGTCCTGCTGCGGAGCCCTGCTCAGCGCTGGTCTGGCTAACACCTCCTACACCAGCCCAGGCCTCCAGAGGCTGAAGGACTCT
CCACAGACAGCCCCGGACAAAGGCCAGTGCTCCACGTGGGGGGCTGGTCACTTCTCCACCTTCGACCACCACGTGTACGACTTCTCGGGGACGTGCAACTACATC
TTCGCGGCCACCTGCAAGGACGCCTTCCCCACCTTCAGTGTCCAGCTGCGGCGAGGCCCAGACGGGAGCATCTCGCGGATCATCGTGGAGCTGGGGGCCTCCGTC
GTCACTGTGAGCGAAGCCATCATCTCAGTCAAGGACATCGGGGTCATCAGCCTGCCCTATACCAGCAATGGACTCCAGATCACACCCTTCGGCCAGAGCGTGCGG
CTGGTGGCCAAGCAGCTGGAGCTGGAGCTGGAAGTCGTGTGGGGTCCTGACAGCCACCTCATGGTTCTGGTGGAGCGGAAGTACATGGGTCAGATGTGCGGGCTC
TGCGGGAACTTTGACGGGAAGGTGACCAACGAGTTTGTCAGTGAGGAGGGCAAGTTCCTGGAACCCCACAAGTTTGCTGCCCTCCAGAAGCTGGACGACCCCGGC
GAGATCTGCACCTTCCAGGACATCCCCAGCACCCACGTCCGGCAGGCCCAGCACGCCCGGATCTGCACCCAGCTGCTGACCCTGGTGGCCCCTGAGTGCAGCGTG
TCCAAGGAGCCCTTCGTGCTAAGCTGCCAGGCGGACGTGGCCGCAGCCCCCCAGCCAGGCCCACAGAACAGCAGTTGTGCCACCCTGTCGGAGTACTCCCGCCAG
TGCAGCATGGTGGGCCAGCCGGTCCGCCGCTGGCGGAGCCCCGGCCTGTGCTCCGTGGGTCAGTGCCCGGCCAACCAGGTGTACCAGGAGTGCGGCTCGGCCTGC
GTGAAGACCTGCTCCAACCCGCAGCACAGCTGCTCCAGCTCCTGCACCTTCGGGTGCTTCTGCCCGGAAGGTACGGTCCTGAATGACCTCTCCAATAACCACACC
TGCGTGCCCGTCACCCAGTGCCCCTGTGTGCTCCACGGCGCCATGTATGCCCCCGGGGAGGTCACAATAGCTGCCTGCCAAACCTGCCGGTGCACCCTGGGCCGC
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>MUC6|4588|protein
MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVELGASV
VTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKFAALQKLDDPG
EICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVGQCPANQVYQECGSAC
VKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLEGGSFVTTFDARPYRFHGTCT
YILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMATSFGLELVVQLRPIFQAYVTVGPQF
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top