Evidence Details for P2RX6
Basic Information Top
| Gene Symbol: | P2RX6 ( MGC129625,P2RXL1,P2X6,P2XM ) |
|---|---|
| Gene Full Name: | purinergic receptor P2X, ligand-gated ion channel, 6 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:9127; OMIM: 608077; Uniprot ID:P2RX6_HUMAN; ENSEMBL ID: ENSG00000099957; HGNC ID: 8538 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>P2RX6|9127|nucleotide
ATGTGCCCGCAGCTAGCAGGAGCTGGCAGCATGGGCTCCCCAGGGGCTACGACAGGCTGGGGGCTTCTGGATTATAAGACGGAGAAGTGGGCTCTCCTCGCCAAA
AAAGGCTACCAGGAGCGGGACCTGGAACCCCAGTTTTCCATCATCACCAAACTCAAAGGGGTTTCCGTCACTCAGATCAAGGAGCTTGGAAACCGGCTGTGGGAT
GTGGCCGACTTCGTGAAGCCACCTCAGGGAGAGAACGTGTTCTTCTTGGTGACCAACTTCCTTGTGACGCCAGCCCAAGTTCAGGGCAGATGCCCAGAGCACCCG
TCCGTCCCACTGGCTAACTGCTGGGTCGACGAGGACTGCCCCGAAGGGGAGGGAGGCACACACAGCCACGGTGTAAAAACAGGCCAGTGTGTGGTGTTCAATGGG
ACCCACAGGACCTGTGAGATCTGGAGTTGGTGCCCCGTGGAGAGTGGCGTTGTGCCCTCGAGGCCCCTGCTGGCCCAGGCCCAGAACTTCACACTGTTCATCAAA
AACACAGTCACCTTCAGCAAGTTCAACTTCTCTAAGTCCAATGCCTTGGAGACCTGGGACCCCACCTATTTTAAGCACTGCCGCTATGAACCACAATTCAGCCCC
TACTGTCCCGTGTTCCGCATTGGGGACCTCGTGGCCAAGGCTGGAGGGACCTTCGAGGACCTGGCGTTGCTGGGTGGCTCTGTAGGCATCAGAGTTCACTGGGAT
TGTGACCTGGACACCGGGGACTCTGGCTGCTGGCCTCACTACTCCTTCCAGCTGCAGGAGAAGAGCTACAACTTCAGGACAGCCACTCACTGGTGGGAGCAACCG
GGTGTGGAGGCCCGCACCCTGCTCAAGCTCTATGGAATCCGCTTCGACATCCTCGTCACCGGGCAGGCAGGGAAGTTCGGGCTCATCCCCACGGCCGTCACACTG
GGCACCGGGGCAGCTTGGCTGGGCGTGGTCACCTTTTTCTGTGACCTGCTACTGCTGTATGTGGATAGAGAAGCCCATTTCTACTGGAGGACAAAGTATGAGGAG
GCCAAGGCCCCGAAAGCAACCGCCAACTCTGTGTGGAGGGAGCTGGCCCTTGCATCCCAAGCCCGACTGGCCGAGTGCCTCAGACGGAGCTCAGCACCTGCACCC
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ATGTGCCCGCAGCTAGCAGGAGCTGGCAGCATGGGCTCCCCAGGGGCTACGACAGGCTGGGGGCTTCTGGATTATAAGACGGAGAAGTGGGCTCTCCTCGCCAAA
AAAGGCTACCAGGAGCGGGACCTGGAACCCCAGTTTTCCATCATCACCAAACTCAAAGGGGTTTCCGTCACTCAGATCAAGGAGCTTGGAAACCGGCTGTGGGAT
GTGGCCGACTTCGTGAAGCCACCTCAGGGAGAGAACGTGTTCTTCTTGGTGACCAACTTCCTTGTGACGCCAGCCCAAGTTCAGGGCAGATGCCCAGAGCACCCG
TCCGTCCCACTGGCTAACTGCTGGGTCGACGAGGACTGCCCCGAAGGGGAGGGAGGCACACACAGCCACGGTGTAAAAACAGGCCAGTGTGTGGTGTTCAATGGG
ACCCACAGGACCTGTGAGATCTGGAGTTGGTGCCCCGTGGAGAGTGGCGTTGTGCCCTCGAGGCCCCTGCTGGCCCAGGCCCAGAACTTCACACTGTTCATCAAA
AACACAGTCACCTTCAGCAAGTTCAACTTCTCTAAGTCCAATGCCTTGGAGACCTGGGACCCCACCTATTTTAAGCACTGCCGCTATGAACCACAATTCAGCCCC
TACTGTCCCGTGTTCCGCATTGGGGACCTCGTGGCCAAGGCTGGAGGGACCTTCGAGGACCTGGCGTTGCTGGGTGGCTCTGTAGGCATCAGAGTTCACTGGGAT
TGTGACCTGGACACCGGGGACTCTGGCTGCTGGCCTCACTACTCCTTCCAGCTGCAGGAGAAGAGCTACAACTTCAGGACAGCCACTCACTGGTGGGAGCAACCG
GGTGTGGAGGCCCGCACCCTGCTCAAGCTCTATGGAATCCGCTTCGACATCCTCGTCACCGGGCAGGCAGGGAAGTTCGGGCTCATCCCCACGGCCGTCACACTG
GGCACCGGGGCAGCTTGGCTGGGCGTGGTCACCTTTTTCTGTGACCTGCTACTGCTGTATGTGGATAGAGAAGCCCATTTCTACTGGAGGACAAAGTATGAGGAG
GCCAAGGCCCCGAAAGCAACCGCCAACTCTGTGTGGAGGGAGCTGGCCCTTGCATCCCAAGCCCGACTGGCCGAGTGCCTCAGACGGAGCTCAGCACCTGCACCC
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>P2RX6|9127|protein
MCPQLAGAGSMGSPGATTGWGLLDYKTEKWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTPAQVQGRCPEHP
SVPLANCWVDEDCPEGEGGTHSHGVKTGQCVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYFKHCRYEPQFSP
YCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTATHWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTL
GTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYEEAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL
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MCPQLAGAGSMGSPGATTGWGLLDYKTEKWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTPAQVQGRCPEHP
SVPLANCWVDEDCPEGEGGTHSHGVKTGQCVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYFKHCRYEPQFSP
YCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTATHWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTL
GTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYEEAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL
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Evidence summary TopClick 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) | 1 (9) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (10) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.