AutismKB 2.0

Evidence Details for DNAH1


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Basic Information Top
Gene Symbol:DNAH1 ( DNAHC1,HDHC7,HL-11,HL11,XLHSRF-1 )
Gene Full Name: dynein, axonemal, heavy chain 1
Band: 3p21.1
Quick LinksEntrez ID:25981; OMIM: 603332; Uniprot ID:DYH1_HUMAN; ENSEMBL ID: ENSG00000114841; HGNC ID: 2940
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAH1|25981|nucleotide
ATGGAGCAGCCTAACAGTAAAGGCTATAGCCTGGGAAGGACCCCTCAGGGCCCAGAGTGCAGCAGTGCTCCTGCAGTCCAAGTGGGGACCCACAGGGGCCTAGAG
TATAACCCGGGGAAGATTCTTCCAGGATCAGACTATGGGTTGGGAAATCCTCCAGCCCTTGACCCCAAGCTCCCACATTTACCCCTGCCCCCGGCCCCACCCACA
CTCTCAGACTTGGGGCAGCCACGGAAGTCACCCCTGACAGGCACTGATAAGAAGTACCCGCTGATGAAGCAGCGTGGGTTCTACTCCGACATCCTCAGCCCTGGA
ACCTTAGATCAACTTGGGGAGGTATGTCGTGGCCCCCGAATGAGCCAGAACCTCCTGCGGCAGGCTGACCTTGACAAGTTCACCCCAAGAGTCGGAAGCTTTGAG
GTTCCTGAAGACTTCCAGGAGCGCATGGAGCAGCAGTGCATCGGGTCCACCACCCGGCTGCTCGCCCAGACTGACTTCCCACTGCAGGCCTACGAGCCCAAGATG
CAGGTGCCTTTCCAGGTGCTGCCAGGCCAGCATCCTCGCAAGATTGAGATCGAGAGGAGGAAACAGCAGTACCTGAGCCTGGACATTGAGCAGTTGCTGTTCAGC
CAGGGCATCGACTCCAACAAGCTCATGCCCAGGCACCTGGACCACCAGCACCCCCAAACCATCGAACAGGGCCATGACCCAATCTTCCCCATCTACCTCCCACTG
AAGGTATTTGACAATGAGGACTTTGACTGCCGGACTCCCAGAGAGTGGATCAACATGGGCTTGGAGCCAGGGTCTCTGGACAGGAAACCTGTCCCGGGAAAAGCC
CTCTTGCCCACTGATGACTTCCTGGGGCATGAGGACCCCAAGAGTCAGAAGCTGAAGTACAAATGGTGCGAGGTCGGCGTCCTGGACTACGACGAGGAGAAGAAG
CTATACCTGGTACACAAGACAGACGAGAAAGGCCTGGTGCGAGATGAGATGGGGAGGCCCATCCTGAATGCAGGGGTCACCACTGAAGGAAGGCCACCCCTTCAG
GTCTGTCAGTACTGGGTGCCACGGATCCAGCTTCTCTTCTGCGCTGAGGACCCTTGCATGTTCGCACAACGTGTGGTCCAGGCCAACGCCCTGCGCAAGAACACG
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>DNAH1|25981|protein
MEQPNSKGYSLGRTPQGPECSSAPAVQVGTHRGLEYNPGKILPGSDYGLGNPPALDPKLPHLPLPPAPPTLSDLGQPRKSPLTGTDKKYPLMKQRGFYSDILSPG
TLDQLGEVCRGPRMSQNLLRQADLDKFTPRVGSFEVPEDFQERMEQQCIGSTTRLLAQTDFPLQAYEPKMQVPFQVLPGQHPRKIEIERRKQQYLSLDIEQLLFS
QGIDSNKLMPRHLDHQHPQTIEQGHDPIFPIYLPLKVFDNEDFDCRTPREWINMGLEPGSLDRKPVPGKALLPTDDFLGHEDPKSQKLKYKWCEVGVLDYDEEKK
LYLVHKTDEKGLVRDEMGRPILNAGVTTEGRPPLQVCQYWVPRIQLLFCAEDPCMFAQRVVQANALRKNTEALLLYNLYVDCMPSDGQHVISEQSLSKIKQWALS
TPRMRKGPSVLEHLSSLAREVSLDYERSMNKINFDHVVSSKPETFSYVTLPKKEEEQVPERGLVSVPKYHFWEQKEDFTFVSLLTRPEVITALSKVRAECNKVTA
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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) 1 (2) 0 (0) 0 (1) 0 (0) 10 (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