AutismKB 2.0

Evidence Details for PPARGC1A


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Basic Information Top
Gene Symbol:PPARGC1A ( LEM6,PGC-1(alpha),PGC-1v,PGC1,PGC1A,PPARGC1 )
Gene Full Name: peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
Band: 4p15.2
Quick LinksEntrez ID:10891; OMIM: 604517; Uniprot ID:PRGC1_HUMAN; ENSEMBL ID: ENSG00000109819; HGNC ID: 9237
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPARGC1A|10891|nucleotide
ATGGCGTGGGACATGTGCAACCAGGACTCTGAGTCTGTATGGAGTGACATCGAGTGTGCTGCTCTGGTTGGTGAAGACCAGCCTCTTTGCCCAGATCTTCCTGAA
CTTGATCTTTCTGAACTAGATGTGAACGACTTGGATACAGACAGCTTTCTGGGTGGACTCAAGTGGTGCAGTGACCAATCAGAAATAATATCCAATCAGTACAAC
AATGAGCCTTCAAACATATTTGAGAAGATAGATGAAGAGAATGAGGCAAACTTGCTAGCAGTCCTCACAGAGACACTAGACAGTCTCCCTGTGGATGAAGACGGA
TTGCCCTCATTTGATGCGCTGACAGATGGAGACGTGACCACTGACAATGAGGCTAGTCCTTCCTCCATGCCTGACGGCACCCCTCCACCCCAGGAGGCAGAAGAG
CCGTCTCTACTTAAGAAGCTCTTACTGGCACCAGCCAACACTCAGCTAAGTTATAATGAATGCAGTGGTCTCAGTACCCAGAACCATGCAAATCACAATCACAGG
ATCAGAACAAACCCTGCAATTGTTAAGACTGAGAATTCATGGAGCAATAAAGCGAAGAGTATTTGTCAACAGCAAAAGCCACAAAGACGTCCCTGCTCGGAGCTT
CTCAAATATCTGACCACAAACGATGACCCTCCTCACACCAAACCCACAGAGAACAGAAACAGCAGCAGAGACAAATGCACCTCCAAAAAGAAGTCCCACACACAG
TCGCAGTCACAACACTTACAAGCCAAACCAACAACTTTATCTCTTCCTCTGACCCCAGAGTCACCAAATGACCCCAAGGGTTCCCCATTTGAGAACAAGACTATT
GAACGCACCTTAAGTGTGGAACTCTCTGGAACTGCAGGCCTAACTCCACCCACCACTCCTCCTCATAAAGCCAACCAAGATAACCCTTTTAGGGCTTCTCCAAAG
CTGAAGTCCTCTTGCAAGACTGTGGTGCCACCACCATCAAAGAAGCCCAGGTACAGTGAGTCTTCTGGTACACAAGGCAATAACTCCACCAAGAAAGGGCCGGAG
CAATCCGAGTTGTATGCACAACTCAGCAAGTCCTCAGTCCTCACTGGTGGACACGAGGAAAGGAAGACCAAGCGGCCCAGTCTGCGGCTGTTTGGTGACCATGAC
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>PPARGC1A|10891|protein
MAWDMCNQDSESVWSDIECAALVGEDQPLCPDLPELDLSELDVNDLDTDSFLGGLKWCSDQSEIISNQYNNEPSNIFEKIDEENEANLLAVLTETLDSLPVDEDG
LPSFDALTDGDVTTDNEASPSSMPDGTPPPQEAEEPSLLKKLLLAPANTQLSYNECSGLSTQNHANHNHRIRTNPAIVKTENSWSNKAKSICQQQKPQRRPCSEL
LKYLTTNDDPPHTKPTENRNSSRDKCTSKKKSHTQSQSQHLQAKPTTLSLPLTPESPNDPKGSPFENKTIERTLSVELSGTAGLTPPTTPPHKANQDNPFRASPK
LKSSCKTVVPPPSKKPRYSESSGTQGNNSTKKGPEQSELYAQLSKSSVLTGGHEERKTKRPSLRLFGDHDYCQSINSKTEILINISQELQDSRQLENKDVSSDWQ
GQICSSTDSDQCYLRETLEASKQVSPCSTRKQLQDQEIRAELNKHFGHPSQAVFDDEADKTGELRDSDFSNEQFSKLPMFINSGLAMDGLFDDSEDESDKLSYPW
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Evidence summary Top

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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) 0 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 1 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top