AutismKB 2.0

Evidence Details for PDE5A


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Basic Information Top
Gene Symbol:PDE5A ( CGB-PDE,CN5A,PDE5 )
Gene Full Name: phosphodiesterase 5A, cGMP-specific
Band: 4q26
Quick LinksEntrez ID:8654; OMIM: 603310; Uniprot ID:PDE5A_HUMAN; ENSEMBL ID: ENSG00000138735; HGNC ID: 8784
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDE5A|8654|nucleotide
ATGGAGCGGGCCGGCCCCAGCTTCGGGCAGCAGCGACAGCAGCAGCAGCCCCAGCAGCAGAAGCAGCAGCAGAGGGATCAGGACTCGGTCGAAGCATGGCTGGAC
GATCACTGGGACTTTACCTTCTCATACTTTGTTAGAAAAGCCACCAGAGAAATGGTCAATGCATGGTTTGCTGAGAGAGTTCACACCATCCCTGTGTGCAAGGAA
GGTATCAGAGGCCACACCGAATCTTGCTCTTGTCCCTTGCAGCAGAGTCCTCGTGCAGATAACAGTGCCCCTGGAACACCAACCAGGAAAATCTCTGCCTCTGAA
TTTGACCGGCCTCTTAGACCCATTGTTGTCAAGGATTCTGAGGGAACTGTGAGCTTCCTCTCTGACTCAGAAAAGAAGGAACAGATGCCTCTAACCCCTCCAAGG
TTTGATCATGATGAAGGGGACCAGTGCTCAAGACTCTTGGAATTAGTGAAGGATATTTCTAGTCATTTGGATGTCACAGCCTTATGTCACAAAATTTTCTTGCAT
ATCCATGGACTGATATCTGCTGACCGCTATTCCCTGTTCCTTGTCTGTGAAGACAGCTCCAATGACAAGTTTCTTATCAGCCGCCTCTTTGATGTTGCTGAAGGT
TCAACACTGGAAGAAGTTTCAAATAACTGTATCCGCTTAGAATGGAACAAAGGCATTGTGGGACATGTGGCAGCGCTTGGTGAGCCCTTGAACATCAAAGATGCA
TATGAGGATCCTCGGTTCAATGCAGAAGTTGACCAAATTACAGGCTACAAGACACAAAGCATTCTTTGTATGCCAATTAAGAATCATAGGGAAGAGGTTGTTGGT
GTAGCCCAGGCCATCAACAAGAAATCAGGAAACGGTGGGACATTTACTGAAAAAGATGAAAAGGACTTTGCTGCTTATTTGGCATTTTGTGGTATTGTTCTTCAT
AATGCTCAGCTCTATGAGACTTCACTGCTGGAGAACAAGAGAAATCAGGTGCTGCTTGACCTTGCTAGTTTAATTTTTGAAGAACAACAATCATTAGAAGTAATT
TTGAAGAAAATAGCTGCCACTATTATCTCTTTCATGCAAGTGCAGAAATGCACCATTTTCATAGTGGATGAAGATTGCTCCGATTCTTTTTCTAGTGTGTTTCAC
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>PDE5A|8654|protein
MERAGPSFGQQRQQQQPQQQKQQQRDQDSVEAWLDDHWDFTFSYFVRKATREMVNAWFAERVHTIPVCKEGIRGHTESCSCPLQQSPRADNSAPGTPTRKISASE
FDRPLRPIVVKDSEGTVSFLSDSEKKEQMPLTPPRFDHDEGDQCSRLLELVKDISSHLDVTALCHKIFLHIHGLISADRYSLFLVCEDSSNDKFLISRLFDVAEG
STLEEVSNNCIRLEWNKGIVGHVAALGEPLNIKDAYEDPRFNAEVDQITGYKTQSILCMPIKNHREEVVGVAQAINKKSGNGGTFTEKDEKDFAAYLAFCGIVLH
NAQLYETSLLENKRNQVLLDLASLIFEEQQSLEVILKKIAATIISFMQVQKCTIFIVDEDCSDSFSSVFHMECEELEKSSDTLTREHDANKINYMYAQYVKNTME
PLNIPDVSKDKRFPWTTENTGNVNQQCIRSLLCTPIKNGKKNKVIGVCQLVNKMEENTGKVKPFNRNDEQFLEAFVIFCGLGIQNTQMYEAVERAMAKQMVTLEV
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top