AutismKB 2.0

Evidence Details for RGS22


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Basic Information Top
Gene Symbol:RGS22 ( DKFZp434I092,FLJ40080,FLJ75004,MGC102908,PRTD-NY2 )
Gene Full Name: regulator of G-protein signaling 22
Band: 8q22.2
Quick LinksEntrez ID:26166; OMIM: NA; Uniprot ID:RGS22_HUMAN; ENSEMBL ID: ENSG00000132554; HGNC ID: 24499
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RGS22|26166|nucleotide
ATGCCCGAGAAGAGGCTCACCGCGGAGCCACCAACTATTACAGAAGAAGAATTTGAAGATTCTCTGGCAACAGATGATTTCCTTGTAGACTACTTTAATGAATTC
CTAAGCCTTCCAACCTTTTCAGAGGCAATTAGATTTAATGCAGATTATGGAGTTTTTGAAGTAGCTAATGATGCTCCACAATTTCTGGAAAAACAACTGAAAAAA
ATTCTACAAAACCAGCAACCTCGAAATCCCATTTATGATGTTGTAAGGAAAGGAAAGAATGAGGTTAAACCTGTTCAAATGAATGCCCCCGATGAAGATGAGACC
ATTAATGTCAACTACAATATTATGTGTCTCAGTCGTGAAGAAGGTATTAAGTGGATCAAAAAAGAAAGACTTCCAGCATTTCTGGAAAGTGATTGTTACTTTGAA
TACAGGTTAGCCAAATTGGTCTCACAAGTAAGATGGAGCAAGTCCGGCATGAATTTCACAGTAGGATCAAATTTTTCTCCCTGGATCGTGAAAAAACCACCCAGT
CTACCACCTCCTGCCACTGAAGAAGATAATCTTGTAATTATGAAAAAGTTCTATGTATCACTTGGTGAGGCTTCCTATACTCAAACAAAAGATTGGTTTGCATTA
GCAAAACAAAGTCAGCAAACAGTATCAACCTTTTCGTTACCCTGTTGTGTACCCTACAACAAACTTAAATCACCAGCTATTTCATCTGTTTCTGAGAATTTTATC
TTTGATGATGGAGTTCACCCTAGGACAAAAAAGGACCCATCTAAAACCAACAAATTGATTTCTGAATTTGAAGAAGAAGAAGGAGAAGAAGAAGAGGTGTCTGTA
TCTCTACAAGACACTCCTTCTCAAGCTCTTCTGAGAGTATACCTTGAAAAGAAACAGGATGTTGATGAAAGCCTGACAATGCATTTCTCAACATGTGAAGAATTT
TTAAGCTCCTATATATACTTTATTTTGAGAGGAGCAATTCAGCAAATTGTTGGAAAGCCAGTTGGAGAAACCCCAGACTATATAAACTTCAACAATATAACAAAA
GTGTCATTTGATGATTGTTTTGAGTCTATTCATGGCAAGAATTTTTTAAGTGAATTAGTTCAAACTACAAAGGAGAGGTCAGAAGAGATAGAACAAACAAGTTTA
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>RGS22|26166|protein
MPEKRLTAEPPTITEEEFEDSLATDDFLVDYFNEFLSLPTFSEAIRFNADYGVFEVANDAPQFLEKQLKKILQNQQPRNPIYDVVRKGKNEVKPVQMNAPDEDET
INVNYNIMCLSREEGIKWIKKERLPAFLESDCYFEYRLAKLVSQVRWSKSGMNFTVGSNFSPWIVKKPPSLPPPATEEDNLVIMKKFYVSLGEASYTQTKDWFAL
AKQSQQTVSTFSLPCCVPYNKLKSPAISSVSENFIFDDGVHPRTKKDPSKTNKLISEFEEEEGEEEEVSVSLQDTPSQALLRVYLEKKQDVDESLTMHFSTCEEF
LSSYIYFILRGAIQQIVGKPVGETPDYINFNNITKVSFDDCFESIHGKNFLSELVQTTKERSEEIEQTSLSSKNESAGPESRADWCISHRTYDIGNRKEFERFKK
FIKGTLGERYWWLWMDIERLKVLKDPGRHQRHLEKMKKCYLVSNGDYYLSAEILSKFKLLDGSQWNEEHLRNIQSEVLKPLLLYWAPRFCVTHSASTKYASAELK
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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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top