AutismKB 2.0

Evidence Details for PRKG2


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Basic Information Top
Gene Symbol:PRKG2 ( PRKGR2,cGKII )
Gene Full Name: protein kinase, cGMP-dependent, type II
Band: 4q21.21
Quick LinksEntrez ID:5593; OMIM: 601591; Uniprot ID:KGP2_HUMAN; ENSEMBL ID: ENSG00000138669; HGNC ID: 9416
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKG2|5593|nucleotide
ATGGGAAATGGTTCAGTGAAACCTAAACATTCTAAGCACCCAGATGGACACTCTGGGAACCTCACCACTGATGCTCTGCGGAACAAGGTGACAGAGCTGGAGAGA
GAGTTGAGGAGGAAGGATGCTGAGATCCAGGAGCGGGAGTACCATTTGAAGGAGCTGCGGGAGCAGCTGTCGAAGCAGACTGTGGCCATTGCTGAACTCACAGAG
GAGCTCCAGAACAAGTGCATCCAGCTGAACAAGCTGCAGGATGTGGTGCATATGCAGGGAGGAAGCCCGCTTCAGGCCTCTCCAGATAAAGTGCCTCTTGAGGTC
CACCGGAAGACCTCTGGATTGGTCTCTCTCCATAGCAGGAGGGGAGCAAAGGCTGGCGTGTCTGCTGAGCCAACAACCCGGACCTATGACCTGAACAAACCCCCT
GAATTTTCCTTTGAGAAAGCAAGAGTCAGAAAAGACTCCAGTGAGAAGAAGCTCATTACAGATGCCCTTAATAAAAATCAGTTTCTGAAAAGACTGGATCCTCAG
CAGATCAAAGACATGGTGGAATGCATGTATGGGAGAAACTATCAGCAAGGGAGTTACATTATTAAGCAAGGAGAACCAGGAAACCATATCTTTGTGCTGGCAGAG
GGTCGACTAGAGGTGTTCCAAGGGGAGAAATTGCTGTCCTCCATCCCTATGTGGACCACATTTGGGGAGCTTGCCATTTTATACAATTGTACAAGGACTGCCTCT
GTGAAAGCTATTACCAATGTTAAAACATGGGCACTAGATCGAGAGGTATTCCAGAATATAATGAGGAGGACAGCCCAAGCTAGAGATGAACAATACAGAAACTTC
CTCAGAAGTGTATCCTTGCTGAAGAATTTACCTGAAGATAAATTAACCAAGATCATTGACTGCTTGGAAGTGGAATACTATGACAAAGGAGATTACATCATTAGA
GAGGGCGAGGAAGGAAGTACCTTTTTCATTTTGGCAAAAGGAAAGGTAAAAGTAACACAGAGCACAGAAGGCCATGATCAACCACAGCTGATAAAAACACTGCAG
AAAGGAGAATACTTTGGAGAAAAAGCTCTTATCAGTGATGATGTCAGGTCAGCTAACATTATTGCTGAAGAAAATGATGTTGCATGCCTGGTTATAGATCGAGAA
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>PRKG2|5593|protein
MGNGSVKPKHSKHPDGHSGNLTTDALRNKVTELERELRRKDAEIQEREYHLKELREQLSKQTVAIAELTEELQNKCIQLNKLQDVVHMQGGSPLQASPDKVPLEV
HRKTSGLVSLHSRRGAKAGVSAEPTTRTYDLNKPPEFSFEKARVRKDSSEKKLITDALNKNQFLKRLDPQQIKDMVECMYGRNYQQGSYIIKQGEPGNHIFVLAE
GRLEVFQGEKLLSSIPMWTTFGELAILYNCTRTASVKAITNVKTWALDREVFQNIMRRTAQARDEQYRNFLRSVSLLKNLPEDKLTKIIDCLEVEYYDKGDYIIR
EGEEGSTFFILAKGKVKVTQSTEGHDQPQLIKTLQKGEYFGEKALISDDVRSANIIAEENDVACLVIDRETFNQTVGTFEELQKYLEGYVANLNRDDEKRHAKRS
MSNWKLSKALSLEMIQLKEKVARFSSSSPFQNLEIIATLGVGGFGRVELVKVKNENVAFAMKCIRKKHIVDTKQQEHVYSEKRILEELCSPFIVKLYRTFKDNKY
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Linkage Studies Top