AutismKB 2.0

Evidence Details for AQP10


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Basic Information Top
Gene Symbol:AQP10 ( AQPA_HUMAN )
Gene Full Name: aquaporin 10
Band: 1q21.3
Quick LinksEntrez ID:89872; OMIM: 606578; Uniprot ID:AQP10_HUMAN; ENSEMBL ID: ENSG00000143595; HGNC ID: 16029
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AQP10|89872|nucleotide
ATGGTCTTCACTCAGGCCCCGGCTGAAATCATGGGCCACCTCCGGATACGCAGCCTCCTGGCCCGGCAGTGCCTGGCAGAGTTTCTGGGTGTGTTTGTACTCATG
CTCCTCACCCAAGGAGCTGTGGCCCAGGCTGTCACCAGTGGAGAAACCAAAGGCAACTTCTTCACCATGTTTCTGGCTGGCTCTCTGGCCGTTACGATAGCCATC
TACGTGGGTGGTAACGTCTCAGGGGCCCACCTGAATCCAGCCTTCTCCCTGGCCATGTGCATCGTTGGACGCCTCCCCTGGGTCAAGCTCCCCATTTACATCTTG
GTGCAGTTGCTGTCTGCTTTCTGTGCTTCGGGAGCCACCTATGTTCTCTACCATGATGCCCTACAGAACTATACAGGTGGGAACCTGACAGTGACTGGCCCCAAG
GAGACAGCCTCCATTTTTGCCACCTATCCTGCCCCCTATCTGTCCCTGAACAATGGCTTCCTGGATCAGGTTCTGGGCACTGGGATGCTGATTGTGGGGCTCTTG
GCCATCCTGGACAGACGGAACAAGGGAGTCCCTGCGGGTCTGGAGCCTGTGGTGGTGGGGATGCTGATCCTGGCCCTCGGGTTATCCATGGGTGCCAACTGCGGG
ATTCCACTCAACCCTGCCCGGGACCTGGGCCCACGTCTCTTCACCTACGTGGCTGGCTGGGGTCCTGAAGTCTTCAGTGCTGGTAATGGCTGGTGGTGGGTGCCT
GTGGTGGCCCCTCTGGTGGGGGCCACCGTTGGCACAGCCACTTACCAGCTGTTGGTGGCTCTGCACCACCCTGAGGGCCCAGAGCCAGCTCAGGATCTGGTGTCT
GCTCAACACAAAGCCTCAGAGTTGGAAACTCCTGCCTCAGCTCAGATGCTGGAGTGTAAGCTATGA


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>AQP10|89872|protein
MVFTQAPAEIMGHLRIRSLLARQCLAEFLGVFVLMLLTQGAVAQAVTSGETKGNFFTMFLAGSLAVTIAIYVGGNVSGAHLNPAFSLAMCIVGRLPWVKLPIYIL
VQLLSAFCASGATYVLYHDALQNYTGGNLTVTGPKETASIFATYPAPYLSLNNGFLDQVLGTGMLIVGLLAILDRRNKGVPAGLEPVVVGMLILALGLSMGANCG
IPLNPARDLGPRLFTYVAGWGPEVFSAGNGWWWVPVVAPLVGATVGTATYQLLVALHHPEGPEPAQDLVSAQHKASELETPASAQMLECKL


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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top