Evidence Details for PNPLA4
Basic Information Top
| Gene Symbol: | PNPLA4 ( DXS1283E,GS2 ) |
|---|---|
| Gene Full Name: | patatin-like phospholipase domain containing 4 |
| Band: | Xp22.31 |
| Quick Links | Entrez ID:8228; OMIM: 300102; Uniprot ID:PLPL4_HUMAN; ENSEMBL ID: ENSG00000006757; HGNC ID: 24887 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PNPLA4|8228|nucleotide
ATGAAGCACATCAACCTATCATTTGCAGCGTGTGGATTTCTGGGCATTTACCACTTGGGGGCAGCATCTGCACTTTGCAGACATGGCAAAAAACTTGTGAAGGAT
GTCAAAGCCTTCGCTGGGGCGTCTGCGGGATCGTTGGTTGCTTCTGTTCTGCTAACAGCACCAGAAAAAATAGAGGAATGTAACCAATTTACCTACAAGTTTGCC
GAAGAAATCAGAAGGCAGTCTTTCGGGGCAGTAACGCCCGGTTATGACTTCATGGCCCGACTAAGAAGTGGGATGGAGTCGATTCTTCCTCCCAGCGCTCACGAG
CTGGCCCAGAACCGACTGCACGTATCCATCACCAACGCCAAAACCAGAGAAAATCACTTAGTCTCCACTTTTTCCTCCAGGGAGGACCTCATTAAGGTCCTCCTA
GCCAGCAGTTTTGTGCCCATTTATGCAGGACTGAAGCTAGTGGAATACAAAGGGCAGAAGTGGGTGGACGGAGGCCTCACCAACGCTCTTCCCATCCTGCCCGTC
GGCCGGACAGTAACCATCTCCCCCTTCAGTGGACGACTGGACATCTCCCCGCAGGACAAAGGGCAGCTAGATCTGTATGTTAATATCGCCAAGCAGGATATCATG
TTGTCCCTGGCAAACCTGGTGAGACTCAACCAAGCCCTTTTTCCCCCAAGCAAGAGGAAAATGGAATCTTTGTATCAGTGTGGTTTTGATGACACTGTTAAGTTT
TTACTTAAAGAAAATTGGTTTGAATAA
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ATGAAGCACATCAACCTATCATTTGCAGCGTGTGGATTTCTGGGCATTTACCACTTGGGGGCAGCATCTGCACTTTGCAGACATGGCAAAAAACTTGTGAAGGAT
GTCAAAGCCTTCGCTGGGGCGTCTGCGGGATCGTTGGTTGCTTCTGTTCTGCTAACAGCACCAGAAAAAATAGAGGAATGTAACCAATTTACCTACAAGTTTGCC
GAAGAAATCAGAAGGCAGTCTTTCGGGGCAGTAACGCCCGGTTATGACTTCATGGCCCGACTAAGAAGTGGGATGGAGTCGATTCTTCCTCCCAGCGCTCACGAG
CTGGCCCAGAACCGACTGCACGTATCCATCACCAACGCCAAAACCAGAGAAAATCACTTAGTCTCCACTTTTTCCTCCAGGGAGGACCTCATTAAGGTCCTCCTA
GCCAGCAGTTTTGTGCCCATTTATGCAGGACTGAAGCTAGTGGAATACAAAGGGCAGAAGTGGGTGGACGGAGGCCTCACCAACGCTCTTCCCATCCTGCCCGTC
GGCCGGACAGTAACCATCTCCCCCTTCAGTGGACGACTGGACATCTCCCCGCAGGACAAAGGGCAGCTAGATCTGTATGTTAATATCGCCAAGCAGGATATCATG
TTGTCCCTGGCAAACCTGGTGAGACTCAACCAAGCCCTTTTTCCCCCAAGCAAGAGGAAAATGGAATCTTTGTATCAGTGTGGTTTTGATGACACTGTTAAGTTT
TTACTTAAAGAAAATTGGTTTGAATAA
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>PNPLA4|8228|protein
MKHINLSFAACGFLGIYHLGAASALCRHGKKLVKDVKAFAGASAGSLVASVLLTAPEKIEECNQFTYKFAEEIRRQSFGAVTPGYDFMARLRSGMESILPPSAHE
LAQNRLHVSITNAKTRENHLVSTFSSREDLIKVLLASSFVPIYAGLKLVEYKGQKWVDGGLTNALPILPVGRTVTISPFSGRLDISPQDKGQLDLYVNIAKQDIM
LSLANLVRLNQALFPPSKRKMESLYQCGFDDTVKFLLKENWFE
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MKHINLSFAACGFLGIYHLGAASALCRHGKKLVKDVKAFAGASAGSLVASVLLTAPEKIEECNQFTYKFAEEIRRQSFGAVTPGYDFMARLRSGMESILPPSAHE
LAQNRLHVSITNAKTRENHLVSTFSSREDLIKVLLASSFVPIYAGLKLVEYKGQKWVDGGLTNALPILPVGRTVTISPFSGRLDISPQDKGQLDLYVNIAKQDIM
LSLANLVRLNQALFPPSKRKMESLYQCGFDDTVKFLLKENWFE
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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 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
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 | ||||||
| Thomas, 1999 | - | FISH |  |  | autism | - | - | - | - | 3 | - | 3 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Vazna, 2010 | Czech | aCGH | | | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Quintela I, 2015 | - | - | - | - | autistic disorder | - | - | - | - | 1 | - | 1 |
Linkage Studies Top