AutismKB 2.0

Evidence Details for PDE8A


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Basic Information Top
Gene Symbol:PDE8A ( FLJ16150,HsT19550 )
Gene Full Name: phosphodiesterase 8A
Band: 15q25.3
Quick LinksEntrez ID:5151; OMIM: 602972; Uniprot ID:PDE8A_HUMAN; ENSEMBL ID: ENSG00000073417; HGNC ID: 8793
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDE8A|5151|nucleotide
ATGGGCTGTGCCCCGAGCATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCGTCCGGCGGGCCGCGCCTCCCGCAG
GGCCAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGACGGCAGCGGCAAGAAGGTAGCAGTAGCTGATGTGCAGTTT
GGCCCCATGAGATTTCATCAAGATCAACTTCAGGTACTTTTAGTGTTTACCAAAGAAGATAACCAATGTAATGGATTCTGCAGGGCATGTGAAAAAGCAGGGTTT
AAGTGTACAGTTACCAAGGAGGCTCAGGCTGTCCTTGCCTGTTTCCTGGACAAACATCATGACATTATCATCATAGACCACAGAAATCCTCGACAGCTGGATGCA
GAGGCACTGTGCAGGTCTATCAGATCATCAAAACTCTCAGAAAACACAGTTATTGTTGGTGTAGTACGCAGGGTGGATAGAGAAGAGTTGTCCGTAATGCCTTTC
ATTTCTGCTGGATTTACAAGGAGGTATGTAGAAAACCCCAACATCATGGCCTGCTACAATGAACTGCTCCAGCTGGAGTTTGGAGAGGTGCGATCACAACTGAAA
CTCAGGGCTTGTAACTCAGTATTCACTGCATTAGAAAACAGTGAAGATGCAATTGAAATTACAAGCGAAGACCGTTTTATACAGTATGCAAATCCTGCATTTGAA
ACAACAATGGGCTATCAGTCAGGTGAATTAATAGGGAAGGAGTTAGGAGAAGTGCCTATAAATGAAAAAAAGGCTGACTTGCTCGATACTATAAATTCATGCATC
AGGATAGGCAAGGAGTGGCAAGGAATTTACTATGCCAAAAAGAAAAACGGAGATAATATACAACAAAATGTGAAGATAATACCTGTCATTGGACAGGGAGGAAAA
ATTAGACACTATGTGTCCATTATCAGAGTGTGCAATGGCAACAATAAGGCTGAGAAAATATCCGAATGTGTTCAGTCTGACACTCATACAGATAATCAGACAGGC
AAACATAAAGACAGGAGAAAAGGCTCACTAGACGTCAAAGCTGTTGCCTCCCGTGCAACTGAAGTTTCCAGCCAGAGACGACACTCTTCCATGGCCCGGATACAT
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>PDE8A|5151|protein
MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKVAVADVQFGPMRFHQDQLQVLLVFTKEDNQCNGFCRACEKAGF
KCTVTKEAQAVLACFLDKHHDIIIIDHRNPRQLDAEALCRSIRSSKLSENTVIVGVVRRVDREELSVMPFISAGFTRRYVENPNIMACYNELLQLEFGEVRSQLK
LRACNSVFTALENSEDAIEITSEDRFIQYANPAFETTMGYQSGELIGKELGEVPINEKKADLLDTINSCIRIGKEWQGIYYAKKKNGDNIQQNVKIIPVIGQGGK
IRHYVSIIRVCNGNNKAEKISECVQSDTHTDNQTGKHKDRRKGSLDVKAVASRATEVSSQRRHSSMARIHSMTIEAPITKVINIINAAQESSPMPVTEALDRVLE
ILRTTELYSPQFGAKDDDPHANDLVGGLMSDGLRRLSGNEYVLSTKNTQMVSSNIITPISLDDVPPRIARAMENEEYWDFDIFELEAATHNRPLIYLGLKMFARF
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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 (3) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (5)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top