AutismKB 2.0

Evidence Details for MUC4


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Basic Information Top
Gene Symbol:MUC4 ( HSA276359 )
Gene Full Name: mucin 4, cell surface associated
Band: 3q29
Quick LinksEntrez ID:4585; OMIM: 158372; Uniprot ID:MUC4_HUMAN; ENSEMBL ID: ENSG00000145113; HGNC ID: 7514
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUC4|4585|nucleotide
ATGAAGGGGGCACGCTGGAGGAGGGTCCCCTGGGTGTCCCTGAGCTGCCTGTGTCTCTGCCTCCTTCCGCATGTGGTCCCAGGAATGACAACACCGTCACTGAAG
ACAGACGGTGGGAGACGCACAGCCACATCACCACCCCCCACAACCTCCCAGACCATCATTTCCACCATTCCCAGCACTGCCATGCACACCCGCTCCACAGCTGCC
CCCATCCCCATCCTGCCTGAGAGAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCGTCAGGAGGACCGTGGACTTCACCTCCCCACTC
TTCAAGCCGGCGACTGGCTTCCCCCTTGGCTCCTCTCTCCGTGATTCCCTCTACTTCACAGACAATGGCCAGATCATCTTCCCAGAGTCAGACTACCAGATTTTC
TCCTACCCCAACCCACTCCCAACAGGCTTCACAGGCCGGGACCCTGTGGCCCTGGTGGCTCCGTTCTGGGACGATGCTGACTTCTCCACTGGTCGGGGGACCACA
TTTTATCAGGAATACGAGACGTTCTATGGTGAACACAGCCTGCTAGTCCAGCAGGCCGAGTCTTGGATTAGAAAGATGACAAACAACGGGGGCTACAAGGCCAGG
TGGGCCCTAAAGGTCACGTGGGTCAATGCCCACGCCTATCCTGCCCAGTGGACCCTCGGGAGCAACACCTACCAAGCCATCCTCTCCACGGACGGGAGCAGGTCC
TATGCCCTGTTTCTCTACCAGAGCGGTGGGATGCAGTGGGACGTGGCCCAGCGCTCAGGCAACCCGGTGCTCATGGGCTTCTCTAGTGGAGATGGCTATTTCGAA
AACAGCCCACTGATGTCCCAGCCAGTGTGGGAGAGGTATCGCCCTGATAGATTCCTGAATTCCAACTCAGGCCTCCAAGGGCTGCAGTTCTACAGGCTACACCGG
GAAGAAAGGCCCAACTACCGTCTCGAGTGCCTGCAGTGGCTGAAGAGCCAGCCTCGGTGGCCCAGCTGGGGCTGGAACCAGGTCTCCTGCCCTTGTTCCTGGCAG
CAGGGACGACGGGACTTACGATTCCAACCCGTCAGCATAGGTCGCTGGGGCCTCGGCAGTAGGCAGCTGTGCAGCTTCACCTCTTGGCGAGGAGGCGTGTGCTGC
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>MUC4|4585|protein
MKGARWRRVPWVSLSCLCLCLLPHVVPGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGAGAGDLEFVRRTVDFTSPL
FKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKAR
WALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHR
EERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWND
KPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDA
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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 (2) 1 (1) 0 (0) 0 (0) 0 (3) 0 (1) 0 (0) 0 (0) 2 (7)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top