AutismKB 2.0

Evidence Details for PDE6A


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Basic Information Top
Gene Symbol:PDE6A ( CGPR-A,PDEA,RP43 )
Gene Full Name: phosphodiesterase 6A, cGMP-specific, rod, alpha
Band: 5q32
Quick LinksEntrez ID:5145; OMIM: 180071; Uniprot ID:PDE6A_HUMAN; ENSEMBL ID: ENSG00000132915; HGNC ID: 8785
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDE6A|5145|nucleotide
ATGGGCGAGGTGACAGCAGAGGAGGTGGAGAAGTTCCTGGACTCGAATATTGGCTTTGCCAAACAGTACTACAACCTCCACTACCGGGCCAAGCTCATCTCCGAC
CTCCTTGGGGCCAAGGAGGCTGCCGTGGACTTCAGCAACTACCACTCCCCGAGCAGCATGGAGGAGAGCGAAATCATCTTTGATCTCCTGCGGGACTTTCAGGAG
AATTTACAGACAGAGAAATGCATCTTCAATGTCATGAAGAAGCTGTGCTTCCTCCTGCAGGCAGACCGCATGAGCCTGTTCATGTACCGGACCCGCAATGGCATC
GCAGAGCTGGCCACCAGGCTTTTCAATGTCCACAAGGATGCTGTCCTCGAGGACTGCCTGGTGATGCCCGACCAAGAGATCGTCTTCCCTTTGGACATGGGCATC
GTGGGCCATGTCGCACACTCTAAGAAGATTGCTAACGTCCCCAACACAGAGGAGGATGAGCATTTCTGTGACTTTGTGGACATCCTCACAGAGTACAAGACCAAG
AACATCTTGGCTTCCCCCATAATGAATGGGAAGGATGTGGTGGCCATAATCATGGCTGTGAATAAAGTGGATGGATCCCACTTCACCAAGAGAGATGAAGAGATT
CTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGATACTGCTGTGGTCTGGG
AGCAAAGTCTTTGAAGAACTTACGGACATCGAACGACAGTTCCACAAAGCCCTGTACACAGTCCGTGCTTTCCTCAACTGTGACAGATACTCTGTGGGTCTCTTA
GACATGACCAAGCAGAAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGAAATTAACTTT
TACAAGGTCATTGACTACATCCTGCATGGCAAAGAGGACATCAAAGTCATCCCGAATCCACCTCCTGACCATTGGGCTTTAGTAAGCGGTCTCCCAGCTTATGTT
GCCCAGAATGGCCTGATTTGCAACATCATGAATGCGCCTGCGGAGGACTTTTTTGCATTTCAGAAAGAACCTCTGGATGAGTCTGGATGGATGATTAAAAATGTG
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>PDE6A|5145|protein
MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEIIFDLLRDFQENLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNGI
AELATRLFNVHKDAVLEDCLVMPDQEIVFPLDMGIVGHVAHSKKIANVPNTEEDEHFCDFVDILTEYKTKNILASPIMNGKDVVAIIMAVNKVDGSHFTKRDEEI
LLKYLNFANLIMKVYHLSYLHNCETRRGQILLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLDMTKQKEFFDVWPVLMGEVPPYSGPRTPDGREINF
YKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYVAQNGLICNIMNAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLM
ESLTQFLGWSVLNPDTYESMNKLENRKDIFQDIVKYHVKCDNEEIQKILKTREVYGKEPWECEEEELAEILQAELPDADKYEINKFHFSDLPLTELELVKCGIQM
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top