Evidence Details for P2RX5
Basic Information Top
| Gene Symbol: | P2RX5 ( LRH-1,MGC47755,P2X5,P2X5R ) |
|---|---|
| Gene Full Name: | purinergic receptor P2X, ligand-gated ion channel, 5 |
| Band: | 17p13.2 |
| Quick Links | Entrez ID:5026; OMIM: 602836; Uniprot ID:P2RX5_HUMAN; ENSEMBL ID: ENSG00000083454; HGNC ID: 8536 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>P2RX5|5026|nucleotide
ATGGGGCAGGCGGGCTGCAAGGGGCTCTGCCTGTCGCTGTTCGACTACAAGACCGAGAAGTATGTCATCGCCAAGAACAAGAAGGTGGGCCTGCTGTACCGGCTG
CTGCAGGCCTCCATCCTGGCGTACCTGGTCGTATGGGTGTTCCTGATAAAGAAGGGTTACCAAGACGTCGACACCTCCCTGCAGAGTGCTGTCATCACCAAAGTC
AAGGGCGTGGCCTTCACCAACACCTCGGATCTTGGGCAGCGGATCTGGGATGTCGCCGACTACGTCATTCCAGCCCAGGGAGAGAACGTCTTTTTTGTGGTCACC
AACCTGATTGTGACCCCCAACCAGCGGCAGAACGTCTGTGCTGAGAATGAAGGCATTCCTGATGGCGCGTGCTCCAAGGACAGCGACTGCCACGCTGGGGAAGCG
GTTACAGCTGGAAACGGAGTGAAGACCGGCCGCTGCCTGCGGAGAGAGAACTTGGCCAGGGGCACCTGTGAGATCTTTGCCTGGTGCCCGTTGGAGACAAGCTCC
AGGCCGGAGGAGCCATTCCTGAAGGAGGCCGAAGACTTCACCATTTTCATAAAGAACCACATCCGTTTCCCCAAATTCAACTTCTCCAACAATGTGATGGACGTC
AAGGACAGATCTTTCCTGAAATCATGCCACTTTGGCCCCAAGAACCACTACTGCCCCATCTTCCGACTGGGCTCCGTGATCCGCTGGGCCGGGAGCGACTTCCAG
GATATAGCCCTGGAGGGTGGCGTGATAGGAATTAATATTGAATGGAACTGTGATCTTGATAAAGCTGCCTCTGAGTGCCACCCTCACTATTCTTTTAGCCGTCTG
GACAATAAACTTTCAAAGTCTGTCTCCTCCGGGTACAACTTCAGATTTGCCAGATATTACCGAGACGCAGCCGGGGTGGAGTTCCGCACCCTGATGAAAGCCTAC
GGGATCCGCTTTGACGTGATGGTGAACGGCAAGGGTGCTTTCTTCTGCGACCTGGTACTCATCTACCTCATCAAAAAGAGAGAGTTTTACCGTGACAAGAAGTAC
GAGGAAGTGAGGGGCCTAGAAGACAGTTCCCAGGAGGCCGAGGACGAGGCATCGGGGCTGGGGCTATCTGAGCAGCTCACATCTGGGCCAGGGCTGCTGGGGATG
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ATGGGGCAGGCGGGCTGCAAGGGGCTCTGCCTGTCGCTGTTCGACTACAAGACCGAGAAGTATGTCATCGCCAAGAACAAGAAGGTGGGCCTGCTGTACCGGCTG
CTGCAGGCCTCCATCCTGGCGTACCTGGTCGTATGGGTGTTCCTGATAAAGAAGGGTTACCAAGACGTCGACACCTCCCTGCAGAGTGCTGTCATCACCAAAGTC
AAGGGCGTGGCCTTCACCAACACCTCGGATCTTGGGCAGCGGATCTGGGATGTCGCCGACTACGTCATTCCAGCCCAGGGAGAGAACGTCTTTTTTGTGGTCACC
AACCTGATTGTGACCCCCAACCAGCGGCAGAACGTCTGTGCTGAGAATGAAGGCATTCCTGATGGCGCGTGCTCCAAGGACAGCGACTGCCACGCTGGGGAAGCG
GTTACAGCTGGAAACGGAGTGAAGACCGGCCGCTGCCTGCGGAGAGAGAACTTGGCCAGGGGCACCTGTGAGATCTTTGCCTGGTGCCCGTTGGAGACAAGCTCC
AGGCCGGAGGAGCCATTCCTGAAGGAGGCCGAAGACTTCACCATTTTCATAAAGAACCACATCCGTTTCCCCAAATTCAACTTCTCCAACAATGTGATGGACGTC
AAGGACAGATCTTTCCTGAAATCATGCCACTTTGGCCCCAAGAACCACTACTGCCCCATCTTCCGACTGGGCTCCGTGATCCGCTGGGCCGGGAGCGACTTCCAG
GATATAGCCCTGGAGGGTGGCGTGATAGGAATTAATATTGAATGGAACTGTGATCTTGATAAAGCTGCCTCTGAGTGCCACCCTCACTATTCTTTTAGCCGTCTG
GACAATAAACTTTCAAAGTCTGTCTCCTCCGGGTACAACTTCAGATTTGCCAGATATTACCGAGACGCAGCCGGGGTGGAGTTCCGCACCCTGATGAAAGCCTAC
GGGATCCGCTTTGACGTGATGGTGAACGGCAAGGGTGCTTTCTTCTGCGACCTGGTACTCATCTACCTCATCAAAAAGAGAGAGTTTTACCGTGACAAGAAGTAC
GAGGAAGTGAGGGGCCTAGAAGACAGTTCCCAGGAGGCCGAGGACGAGGCATCGGGGCTGGGGCTATCTGAGCAGCTCACATCTGGGCCAGGGCTGCTGGGGATG
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>P2RX5|5026|protein
MGQAGCKGLCLSLFDYKTEKYVIAKNKKVGLLYRLLQASILAYLVVWVFLIKKGYQDVDTSLQSAVITKVKGVAFTNTSDLGQRIWDVADYVIPAQGENVFFVVT
NLIVTPNQRQNVCAENEGIPDGACSKDSDCHAGEAVTAGNGVKTGRCLRRENLARGTCEIFAWCPLETSSRPEEPFLKEAEDFTIFIKNHIRFPKFNFSNNVMDV
KDRSFLKSCHFGPKNHYCPIFRLGSVIRWAGSDFQDIALEGGVIGINIEWNCDLDKAASECHPHYSFSRLDNKLSKSVSSGYNFRFARYYRDAAGVEFRTLMKAY
GIRFDVMVNGKGAFFCDLVLIYLIKKREFYRDKKYEEVRGLEDSSQEAEDEASGLGLSEQLTSGPGLLGMPEQQELQEPPEAKRGSSSQKGNGSVCPQLLEPHRS
T
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MGQAGCKGLCLSLFDYKTEKYVIAKNKKVGLLYRLLQASILAYLVVWVFLIKKGYQDVDTSLQSAVITKVKGVAFTNTSDLGQRIWDVADYVIPAQGENVFFVVT
NLIVTPNQRQNVCAENEGIPDGACSKDSDCHAGEAVTAGNGVKTGRCLRRENLARGTCEIFAWCPLETSSRPEEPFLKEAEDFTIFIKNHIRFPKFNFSNNVMDV
KDRSFLKSCHFGPKNHYCPIFRLGSVIRWAGSDFQDIALEGGVIGINIEWNCDLDKAASECHPHYSFSRLDNKLSKSVSSGYNFRFARYYRDAAGVEFRTLMKAY
GIRFDVMVNGKGAFFCDLVLIYLIKKREFYRDKKYEEVRGLEDSSQEAEDEASGLGLSEQLTSGPGLLGMPEQQELQEPPEAKRGSSSQKGNGSVCPQLLEPHRS
T
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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 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
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 | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2006_1 | Unknown | lymphoblastoid cell lines | 3 (-) | | | monozygotic twins with different severity | autism | 3 (-) |
0.8 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.