Evidence Details for PPARA
Basic Information Top
| Gene Symbol: | PPARA ( MGC2237,MGC2452,NR1C1,PPAR,PPARalpha,hPPAR ) |
|---|---|
| Gene Full Name: | peroxisome proliferator-activated receptor alpha |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:5465; OMIM: 170998; Uniprot ID:PPARA_HUMAN; ENSEMBL ID: ENSG00000186951; HGNC ID: 9232 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PPARA|5465|nucleotide
ATGGTGGACACGGAAAGCCCACTCTGCCCCCTCTCCCCACTCGAGGCCGGCGATCTAGAGAGCCCGTTATCTGAAGAGTTCCTGCAAGAAATGGGAAACATCCAA
GAGATTTCGCAATCCATCGGCGAGGATAGTTCTGGAAGCTTTGGCTTTACGGAATACCAGTATTTAGGAAGCTGTCCTGGCTCAGATGGCTCGGTCATCACGGAC
ACGCTTTCACCAGCTTCGAGCCCCTCCTCGGTGACTTATCCTGTGGTCCCCGGCAGCGTGGACGAGTCTCCCAGTGGAGCATTGAACATCGAATGTAGAATCTGC
GGGGACAAGGCCTCAGGCTATCATTACGGAGTCCACGCGTGTGAAGGCTGCAAGGGCTTCTTTCGGCGAACGATTCGACTCAAGCTGGTGTATGACAAGTGCGAC
CGCAGCTGCAAGATCCAGAAAAAGAACAGAAACAAATGCCAGTATTGTCGATTTCACAAGTGCCTTTCTGTCGGGATGTCACACAACGCGATTCGTTTTGGACGA
ATGCCAAGATCTGAGAAAGCAAAACTGAAAGCAGAAATTCTTACCTGTGAACATGACATAGAAGATTCTGAAACTGCAGATCTCAAATCTCTGGCCAAGAGAATC
TACGAGGCCTACTTGAAGAACTTCAACATGAACAAGGTCAAAGCCCGGGTCATCCTCTCAGGAAAGGCCAGTAACAATCCACCTTTTGTCATACATGATATGGAG
ACACTGTGTATGGCTGAGAAGACGCTGGTGGCCAAGCTGGTGGCCAATGGCATCCAGAACAAGGAGGCGGAGGTCCGCATCTTTCACTGCTGCCAGTGCACGTCA
GTGGAGACCGTCACGGAGCTCACGGAATTCGCCAAGGCCATCCCAGGCTTCGCAAACTTGGACCTGAACGATCAAGTGACATTGCTAAAATACGGAGTTTATGAG
GCCATATTCGCCATGCTGTCTTCTGTGATGAACAAAGACGGGATGCTGGTAGCGTATGGAAATGGGTTTATAACTCGTGAATTCCTAAAAAGCCTAAGGAAACCG
TTCTGTGATATCATGGAACCCAAGTTTGATTTTGCCATGAAGTTCAATGCACTGGAACTGGATGACAGTGATATCTCCCTTTTTGTGGCTGCTATCATTTGCTGT
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ATGGTGGACACGGAAAGCCCACTCTGCCCCCTCTCCCCACTCGAGGCCGGCGATCTAGAGAGCCCGTTATCTGAAGAGTTCCTGCAAGAAATGGGAAACATCCAA
GAGATTTCGCAATCCATCGGCGAGGATAGTTCTGGAAGCTTTGGCTTTACGGAATACCAGTATTTAGGAAGCTGTCCTGGCTCAGATGGCTCGGTCATCACGGAC
ACGCTTTCACCAGCTTCGAGCCCCTCCTCGGTGACTTATCCTGTGGTCCCCGGCAGCGTGGACGAGTCTCCCAGTGGAGCATTGAACATCGAATGTAGAATCTGC
GGGGACAAGGCCTCAGGCTATCATTACGGAGTCCACGCGTGTGAAGGCTGCAAGGGCTTCTTTCGGCGAACGATTCGACTCAAGCTGGTGTATGACAAGTGCGAC
CGCAGCTGCAAGATCCAGAAAAAGAACAGAAACAAATGCCAGTATTGTCGATTTCACAAGTGCCTTTCTGTCGGGATGTCACACAACGCGATTCGTTTTGGACGA
ATGCCAAGATCTGAGAAAGCAAAACTGAAAGCAGAAATTCTTACCTGTGAACATGACATAGAAGATTCTGAAACTGCAGATCTCAAATCTCTGGCCAAGAGAATC
TACGAGGCCTACTTGAAGAACTTCAACATGAACAAGGTCAAAGCCCGGGTCATCCTCTCAGGAAAGGCCAGTAACAATCCACCTTTTGTCATACATGATATGGAG
ACACTGTGTATGGCTGAGAAGACGCTGGTGGCCAAGCTGGTGGCCAATGGCATCCAGAACAAGGAGGCGGAGGTCCGCATCTTTCACTGCTGCCAGTGCACGTCA
GTGGAGACCGTCACGGAGCTCACGGAATTCGCCAAGGCCATCCCAGGCTTCGCAAACTTGGACCTGAACGATCAAGTGACATTGCTAAAATACGGAGTTTATGAG
GCCATATTCGCCATGCTGTCTTCTGTGATGAACAAAGACGGGATGCTGGTAGCGTATGGAAATGGGTTTATAACTCGTGAATTCCTAAAAAGCCTAAGGAAACCG
TTCTGTGATATCATGGAACCCAAGTTTGATTTTGCCATGAAGTTCAATGCACTGGAACTGGATGACAGTGATATCTCCCTTTTTGTGGCTGCTATCATTTGCTGT
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>PPARA|5465|protein
MVDTESPLCPLSPLEAGDLESPLSEEFLQEMGNIQEISQSIGEDSSGSFGFTEYQYLGSCPGSDGSVITDTLSPASSPSSVTYPVVPGSVDESPSGALNIECRIC
GDKASGYHYGVHACEGCKGFFRRTIRLKLVYDKCDRSCKIQKKNRNKCQYCRFHKCLSVGMSHNAIRFGRMPRSEKAKLKAEILTCEHDIEDSETADLKSLAKRI
YEAYLKNFNMNKVKARVILSGKASNNPPFVIHDMETLCMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELTEFAKAIPGFANLDLNDQVTLLKYGVYE
AIFAMLSSVMNKDGMLVAYGNGFITREFLKSLRKPFCDIMEPKFDFAMKFNALELDDSDISLFVAAIICCGDRPGLLNVGHIEKMQEGIVHVLRLHLQSNHPDDI
FLFPKLLQKMADLRQLVTEHAQLVQIIKKTESDAALHPLLQEIYRDMY
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MVDTESPLCPLSPLEAGDLESPLSEEFLQEMGNIQEISQSIGEDSSGSFGFTEYQYLGSCPGSDGSVITDTLSPASSPSSVTYPVVPGSVDESPSGALNIECRIC
GDKASGYHYGVHACEGCKGFFRRTIRLKLVYDKCDRSCKIQKKNRNKCQYCRFHKCLSVGMSHNAIRFGRMPRSEKAKLKAEILTCEHDIEDSETADLKSLAKRI
YEAYLKNFNMNKVKARVILSGKASNNPPFVIHDMETLCMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELTEFAKAIPGFANLDLNDQVTLLKYGVYE
AIFAMLSSVMNKDGMLVAYGNGFITREFLKSLRKPFCDIMEPKFDFAMKFNALELDDSDISLFVAAIICCGDRPGLLNVGHIEKMQEGIVHVLRLHLQSNHPDDI
FLFPKLLQKMADLRQLVTEHAQLVQIIKKTESDAALHPLLQEIYRDMY
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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 (5) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Gregory, 2009 | USA | aCGH |  | | ASD | - | - | - | - | 119 | 54 | 173 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top