AutismKB 2.0

Evidence Details for PDE9A


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Basic Information Top
Gene Symbol:PDE9A ( FLJ90181,HSPDE9A2 )
Gene Full Name: phosphodiesterase 9A
Band: 21q22.3
Quick LinksEntrez ID:5152; OMIM: 602973; Uniprot ID:PDE9A_HUMAN; ENSEMBL ID: ENSG00000160191; HGNC ID: 8795
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDE9A|5152|nucleotide
ATGGGATCCGGCTCCTCCAGCTACCGGCCCAAGGCCATCTACCTGGACATCGATGGACGCATTCAGAAGGTAATCTTCAGCAAGTACTGCAACTCCAGCGACATC
ATGGACCTGTTCTGCATCGCCACCGGCCTGCCTCGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAAT
TCAGAACGCACTCCGTACAAAGTGAGACCTGTGGCCATCAAGCAACTCTCCGAGAGAGAAGAATTAATCCAGAGCGTGCTGGCGCAGGTTGCAGAGCAGTTCTCA
AGAGCATTCAAAATCAATGAACTGAAAGCTGAAGTTGCAAATCACTTGGCTGTCCTAGAGAAACGCGTGGAATTGGAAGGACTAAAAGTGGTGGAGATTGAGAAA
TGCAAGAGTGACATTAAGAAGATGAGGGAGGAGCTGGCGGCCAGAAGCAGCAGGACCAACTGCCCCTGTAAGTACAGTTTTTTGGATAACCACAAGAAGTTGACT
CCTCGACGCGATGTTCCCACTTACCCCAAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAG
ATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGTTCTGCGTCCACGACAAC
TACAGAAACAACCCCTTCCACAACTTCCGGCACTGCTTCTGCGTGGCCCAGATGATGTACAGCATGGTCTGGCTCTGCAGTCTCCAGGAGAAGTTCTCACAAACG
GATATCCTGATCCTAATGACAGCGGCCATCTGCCACGATCTGGACCATCCCGGCTACAACAACACGTACCAGATCAATGCCCGCACAGAGCTGGCGGTCCGCTAC
AATGACATCTCACCGCTGGAGAACCACCACTGCGCCGTGGCCTTCCAGATCCTCGCCGAGCCTGAGTGCAACATCTTCTCCAACATCCCACCTGATGGGTTCAAG
CAGATCCGACAGGGAATGATCACATTAATCTTGGCCACTGACATGGCAAGACATGCAGAAATTATGGATTCTTTCAAAGAGAAAATGGAGAATTTTGACTACAGC
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>PDE9A|5152|protein
MGSGSSSYRPKAIYLDIDGRIQKVIFSKYCNSSDIMDLFCIATGLPRNTTISLLTTDDAMVSIDPTMPANSERTPYKVRPVAIKQLSEREELIQSVLAQVAEQFS
RAFKINELKAEVANHLAVLEKRVELEGLKVVEIEKCKSDIKKMREELAARSSRTNCPCKYSFLDNHKKLTPRRDVPTYPKYLLSPETIEALRKPTFDVWLWEPNE
MLSCLEHMYHDLGLVRDFSINPVTLRRWLFCVHDNYRNNPFHNFRHCFCVAQMMYSMVWLCSLQEKFSQTDILILMTAAICHDLDHPGYNNTYQINARTELAVRY
NDISPLENHHCAVAFQILAEPECNIFSNIPPDGFKQIRQGMITLILATDMARHAEIMDSFKEKMENFDYSNEEHMTLLKMILIKCCDISNEVRPMEVAEPWVDCL
LEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFVLIPMFETVTKLFPMVEEIMLQPLWESRDRYEELKRIDDAMKELQKKTDSLTSGATEKSRERSRDV
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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (6)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top