AutismKB 2.0

Evidence Details for PRKAR2B


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Basic Information Top
Gene Symbol:PRKAR2B ( PRKAR2,RII-BETA )
Gene Full Name: protein kinase, cAMP-dependent, regulatory, type II, beta
Band: 7q22.3
Quick LinksEntrez ID:5577; OMIM: 176912; Uniprot ID:KAP3_HUMAN; ENSEMBL ID: ENSG00000005249; HGNC ID: 9392
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKAR2B|5577|nucleotide
ATGAGCATCGAGATCCCGGCGGGACTGACGGAGCTGCTGCAGGGCTTCACGGTGGAGGTGCTGAGGCACCAGCCCGCGGACCTGCTGGAGTTCGCGCTGCAGCAC
TTCACCCGCCTGCAGCAGGAGAACGAGCGCAAAGGCACCGCGCGCTTCGGCCATGAGGGCAGGACCTGGGGGGACCTGGGCGCCGCTGCCGGGGGCGGCACCCCC
AGCAAGGGGGTCAACTTCGCCGAGGAGCCCATGCAGTCCGACTCCGAGGACGGGGAGGAGGAGGAGGCGGCGCCCGCGGACGCAGGGGCGTTCAATGCTCCAGTA
ATAAACCGATTCACAAGGCGTGCCTCAGTATGTGCAGAAGCTTATAATCCTGATGAAGAAGAAGATGATGCAGAGTCCAGGATTATACATCCAAAAACTGATGAT
CAAAGAAATAGGTTGCAAGAGGCTTGCAAAGACATCCTGCTGTTTAAGAATCTGGATCCGGAGCAGATGTCTCAAGTATTAGATGCCATGTTTGAAAAATTGGTC
AAAGATGGGGAGCATGTAATTGATCAAGGTGACGATGGTGACAACTTTTATGTAATTGATAGAGGCACATTTGATATTTATGTGAAATGTGATGGTGTTGGAAGA
TGTGTTGGTAACTATGATAATCGTGGGAGTTTCGGCGAACTGGCCTTAATGTACAATACACCCAGAGCAGCTACAATCACTGCTACCTCTCCTGGTGCTCTGTGG
GGTTTGGACAGGGTAACCTTCAGGAGAATAATTGTGAAAAACAATGCCAAAAAGAGAAAAATGTATGAAAGCTTTATTGAGTCACTGCCATTCCTTAAATCTTTG
GAGTTTTCTGAACGCCTGAAAGTAGTAGATGTGATAGGCACCAAAGTATACAACGATGGAGAACAAATCATTGCTCAGGGAGATTCGGCTGATTCTTTTTTCATT
GTAGAATCTGGAGAAGTGAAAATTACTATGAAAAGAAAGGGTAAATCAGAAGTGGAAGAGAATGGTGCAGTAGAAATCGCTCGATGCTCGCGGGGACAGTACTTT
GGAGAGCTTGCCCTGGTAACTAACAAACCTCGAGCAGCTTCTGCCCACGCCATTGGGACTGTCAAATGTTTAGCAATGGATGTGCAAGCATTTGAAAGGCTTCTG
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>PRKAR2B|5577|protein
MSIEIPAGLTELLQGFTVEVLRHQPADLLEFALQHFTRLQQENERKGTARFGHEGRTWGDLGAAAGGGTPSKGVNFAEEPMQSDSEDGEEEEAAPADAGAFNAPV
INRFTRRASVCAEAYNPDEEEDDAESRIIHPKTDDQRNRLQEACKDILLFKNLDPEQMSQVLDAMFEKLVKDGEHVIDQGDDGDNFYVIDRGTFDIYVKCDGVGR
CVGNYDNRGSFGELALMYNTPRAATITATSPGALWGLDRVTFRRIIVKNNAKKRKMYESFIESLPFLKSLEFSERLKVVDVIGTKVYNDGEQIIAQGDSADSFFI
VESGEVKITMKRKGKSEVEENGAVEIARCSRGQYFGELALVTNKPRAASAHAIGTVKCLAMDVQAFERLLGPCMEIMKRNIATYEEQLVALFGTNMDIVEPTA

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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top