Evidence Details for P2RX6


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 |


>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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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) |






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 |
Marshall, 2008 | - | SNP microarray | ![]() | ![]() | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
Ramelli, 2008 | - | FISH | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |
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 | - | - | - | - | - |


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 | - | - | - | - |












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