Evidence Details for PNPLA5
Basic Information Top
| Gene Symbol: | PNPLA5 ( GS2L,dJ388M5,dJ388M5.4 ) |
|---|---|
| Gene Full Name: | patatin-like phospholipase domain containing 5 |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:150379; OMIM: 611589; Uniprot ID:PLPL5_HUMAN; ENSEMBL ID: ENSG00000100341; HGNC ID: 24888 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PNPLA5|150379|nucleotide
ATGGGCTTCTTAGAGGAGGAGGGCAGATGGAACCTGTCCTTCTCCGGCGCCGGCTACCTGGGCGCCCACCACGTGGGCGCCACCGAATGCCTGCGCCAGCGAGCC
CCGCGCCTCCTCCAGGGCGCCCGCCGCATCTACGGTTCCTCGTCTGGGGCGCTCAACGCAGTCAGCATCGTCTGCGGCAAGTCGGTCGACTGCCCCTCCACCATC
ACGGTGTCGCCCTTCCATGGGACAGTGGACATCTGCCCCCAGAGCACCTCCCCCAACCTGCATGAGCTGAACGTCTTCAACTTCAGCTTCCAAATCTCCACTGAG
AACTTCTTCCTGGGGCTCATATGTCTCATACCCCCCAGCCTCGAGGTAGTGGCCGACAACTGCAGACAAGGCTACCTGGATGCCCTGAGGTTCCTGGAGAGACGT
GGACTCACCAAGGAACCAGTGCTATGGACGCTGGTGTCTAAGGAACCCCCAGCCCCGGCTGACGGAAACTGGGATGCTGGCTGTGACCAACGCTGGAAGGGGGGC
CTGTCTCTCAACTGGAAAGTGCCCCATGTGCAAGTCAAGGATGTACCCAACTTTGAGCAGCTCTCACCAGAGCTGGAGGCTGCACTGAAGAAAGCATGTACGAGG
GATCCCAGCCGGTGGGCCCGCTTCTGGCACTCGGGGCCTGGACAGGTGCTGACGTACCTGCTGCTACCCTGCACACTGCCCTTCGAGTACATCTACTTCCGCAGC
AGAAGGTTGGTGGTGTGGCTGCCCGATGTGCCGGCGGACTTGTGGTGGATGCAGGGCCTGCTGAGGAACATGGCCCTCGAGGTTTTCTCCAGGACCAAGGCCCAG
CTCCTTGGGCCCATCAGCCCTCCGGCCACTCGCGTCCTGGAAACAAGCCCCCTCCAACCCCAGATAGCTCCTCATAGAGAGGAGCTCGGGCCCACCCACCAGGCC
TGA
Show »
ATGGGCTTCTTAGAGGAGGAGGGCAGATGGAACCTGTCCTTCTCCGGCGCCGGCTACCTGGGCGCCCACCACGTGGGCGCCACCGAATGCCTGCGCCAGCGAGCC
CCGCGCCTCCTCCAGGGCGCCCGCCGCATCTACGGTTCCTCGTCTGGGGCGCTCAACGCAGTCAGCATCGTCTGCGGCAAGTCGGTCGACTGCCCCTCCACCATC
ACGGTGTCGCCCTTCCATGGGACAGTGGACATCTGCCCCCAGAGCACCTCCCCCAACCTGCATGAGCTGAACGTCTTCAACTTCAGCTTCCAAATCTCCACTGAG
AACTTCTTCCTGGGGCTCATATGTCTCATACCCCCCAGCCTCGAGGTAGTGGCCGACAACTGCAGACAAGGCTACCTGGATGCCCTGAGGTTCCTGGAGAGACGT
GGACTCACCAAGGAACCAGTGCTATGGACGCTGGTGTCTAAGGAACCCCCAGCCCCGGCTGACGGAAACTGGGATGCTGGCTGTGACCAACGCTGGAAGGGGGGC
CTGTCTCTCAACTGGAAAGTGCCCCATGTGCAAGTCAAGGATGTACCCAACTTTGAGCAGCTCTCACCAGAGCTGGAGGCTGCACTGAAGAAAGCATGTACGAGG
GATCCCAGCCGGTGGGCCCGCTTCTGGCACTCGGGGCCTGGACAGGTGCTGACGTACCTGCTGCTACCCTGCACACTGCCCTTCGAGTACATCTACTTCCGCAGC
AGAAGGTTGGTGGTGTGGCTGCCCGATGTGCCGGCGGACTTGTGGTGGATGCAGGGCCTGCTGAGGAACATGGCCCTCGAGGTTTTCTCCAGGACCAAGGCCCAG
CTCCTTGGGCCCATCAGCCCTCCGGCCACTCGCGTCCTGGAAACAAGCCCCCTCCAACCCCAGATAGCTCCTCATAGAGAGGAGCTCGGGCCCACCCACCAGGCC
TGA
Show »
>PNPLA5|150379|protein
MGFLEEEGRWNLSFSGAGYLGAHHVGATECLRQRAPRLLQGARRIYGSSSGALNAVSIVCGKSVDCPSTITVSPFHGTVDICPQSTSPNLHELNVFNFSFQISTE
NFFLGLICLIPPSLEVVADNCRQGYLDALRFLERRGLTKEPVLWTLVSKEPPAPADGNWDAGCDQRWKGGLSLNWKVPHVQVKDVPNFEQLSPELEAALKKACTR
DPSRWARFWHSGPGQVLTYLLLPCTLPFEYIYFRSRRLVVWLPDVPADLWWMQGLLRNMALEVFSRTKAQLLGPISPPATRVLETSPLQPQIAPHREELGPTHQA
Show »
MGFLEEEGRWNLSFSGAGYLGAHHVGATECLRQRAPRLLQGARRIYGSSSGALNAVSIVCGKSVDCPSTITVSPFHGTVDICPQSTSPNLHELNVFNFSFQISTE
NFFLGLICLIPPSLEVVADNCRQGYLDALRFLERRGLTKEPVLWTLVSKEPPAPADGNWDAGCDQRWKGGLSLNWKVPHVQVKDVPNFEQLSPELEAALKKACTR
DPSRWARFWHSGPGQVLTYLLLPCTLPFEYIYFRSRRLVVWLPDVPADLWWMQGLLRNMALEVFSRTKAQLLGPISPPATRVLETSPLQPQIAPHREELGPTHQA
Show »
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 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top