AutismKB 2.0

Evidence Details for PYGL


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Basic Information Top
Gene Symbol:PYGL ( GSD6 )
Gene Full Name: phosphorylase, glycogen, liver
Band: 14q22.1
Quick LinksEntrez ID:5836; OMIM: 232700; Uniprot ID:PYGL_HUMAN; ENSEMBL ID: ENSG00000100504; HGNC ID: 9725
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PYGL|5836|nucleotide
ATGGCGAAGCCCCTGACGGACCAGGAGAAGCGGCGGCAGATCAGCATCCGCGGCATCGTGGGCGTGGAGAACGTGGCAGAGCTGAAGAAGAGTTTCAACCGGCAC
CTGCACTTCACGCTGGTCAAGGACCGCAACGTGGCCACCACCCGCGACTACTACTTCGCGCTGGCGCACACGGTGCGCGACCACCTGGTGGGGCGCTGGATCCGC
ACGCAGCAGCACTACTACGACAAGTGCCCCAAGCTTGGATTGGATATAGAAGAGTTAGAAGAAATTGAAGAAGATGCTGGACTTGGCAATGGTGGTCTTGGGAGA
CTTGCTGCCTGCTTCTTGGATTCCATGGCAACCCTGGGACTTGCAGCCTATGGATACGGCATTCGGTATGAATATGGGATTTTCAATCAGAAGATCCGAGATGGA
TGGCAGGTAGAAGAAGCAGATGATTGGCTCAGATATGGAAACCCTTGGGAGAAGTCCCGCCCAGAATTCATGCTGCCTGTGCACTTCTATGGAAAAGTAGAACAC
ACCAACACCGGGACCAAGTGGATTGACACTCAAGTGGTCCTGGCTCTGCCATATGACACCCCCGTGCCCGGCTACATGAATAACACTGTCAACACCATGCGCCTC
TGGTCTGCTCGGGCACCAAATGACTTTAACCTCAGAGACTTTAATGTTGGAGACTACATTCAGGCTGTGCTGGACCGAAACCTGGCCGAGAACATCTCCCGGGTC
CTCTATCCCAATGACAATTTTTTTGAAGGGAAGGAGCTAAGATTGAAGCAGGAATACTTTGTGGTGGCTGCAACCTTGCAAGATATCATCCGCCGTTTCAAAGCC
TCCAAGTTTGGCTCCACCCGTGGTGCAGGAACTGTGTTTGATGCCTTCCCGGATCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAG
CTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGCATGGGAGCTCACCCAGAAGACCTTCGCCTACACCAACCACACAGTGCTCCCGGAAGCC
CTGGAGCGCTGGCCCGTGGACCTGGTGGAGAAGCTGCTCCCTCGACATTTGGAAATCATTTATGAGATAAATCAGAAGCATTTAGATAGAATTGTGGCCTTGTTT
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>PYGL|5836|protein
MAKPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDRNVATTRDYYFALAHTVRDHLVGRWIRTQQHYYDKCPKLGLDIEELEEIEEDAGLGNGGLGR
LAACFLDSMATLGLAAYGYGIRYEYGIFNQKIRDGWQVEEADDWLRYGNPWEKSRPEFMLPVHFYGKVEHTNTGTKWIDTQVVLALPYDTPVPGYMNNTVNTMRL
WSARAPNDFNLRDFNVGDYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKASKFGSTRGAGTVFDAFPDQVAIQLNDTHPALAIPE
LMRIFVDIEKLPWSKAWELTQKTFAYTNHTVLPEALERWPVDLVEKLLPRHLEIIYEINQKHLDRIVALFPKDVDRLRRMSLIEEEGSKRINMAHLCIVGSHAVN
GVAKIHSDIVKTKVFKDFSELEPDKFQNKTNGITPRRWLLLCNPGLAELIAEKIGEDYVKDLSQLTKLHSFLGDDVFLRELAKVKQENKLKFSQFLETEYKVKIN
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Evidence summary Top

Click 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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top