Evidence Details for RGS22
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 Links | Entrez 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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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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MPEKRLTAEPPTITEEEFEDSLATDDFLVDYFNEFLSLPTFSEAIRFNADYGVFEVANDAPQFLEKQLKKILQNQQPRNPIYDVVRKGKNEVKPVQMNAPDEDET
INVNYNIMCLSREEGIKWIKKERLPAFLESDCYFEYRLAKLVSQVRWSKSGMNFTVGSNFSPWIVKKPPSLPPPATEEDNLVIMKKFYVSLGEASYTQTKDWFAL
AKQSQQTVSTFSLPCCVPYNKLKSPAISSVSENFIFDDGVHPRTKKDPSKTNKLISEFEEEEGEEEEVSVSLQDTPSQALLRVYLEKKQDVDESLTMHFSTCEEF
LSSYIYFILRGAIQQIVGKPVGETPDYINFNNITKVSFDDCFESIHGKNFLSELVQTTKERSEEIEQTSLSSKNESAGPESRADWCISHRTYDIGNRKEFERFKK
FIKGTLGERYWWLWMDIERLKVLKDPGRHQRHLEKMKKCYLVSNGDYYLSAEILSKFKLLDGSQWNEEHLRNIQSEVLKPLLLYWAPRFCVTHSASTKYASAELK
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 | aCGH | ASD | - | - | - | - | 119 | 54 | 173 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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