AutismKB 2.0

Evidence Details for GYS2


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Basic Information Top
Gene Symbol:GYS2 ( - )
Gene Full Name: glycogen synthase 2 (liver)
Band: 12p12.1
Quick LinksEntrez ID:2998; OMIM: 138571; Uniprot ID:GYS2_HUMAN; ENSEMBL ID: ENSG00000111713; HGNC ID: 4707
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GYS2|2998|nucleotide
ATGCTTCGAGGCCGATCCCTCTCTGTAACATCCCTGGGTGGGCTTCCCCAGTGGGAAGTCGAAGAACTTCCTGTGGAGGAGTTACTGCTCTTTGAAGTTGCTTGG
GAAGTGACCAATAAAGTTGGAGGCATCTATACTGTGATTCAGACAAAGGCCAAAACAACAGCAGATGAATGGGGAGAGAACTATTTTCTGATAGGTCCATATTTT
GAGCATAATATGAAGACTCAGGTGGAACAGTGTGAACCTGTAAATGATGCTGTCAGAAGAGCAGTGGACGCAATGAATAAGCATGGCTGCCAGGTGCATTTTGGA
AGATGGCTGATAGAAGGAAGTCCTTATGTGGTACTTTTTGACATAGGCTATTCAGCTTGGAATCTGGACAGGTGGAAGGGTGACCTCTGGGAAGCATGCAGTGTC
GGCATTCCTTATCATGACCGAGAAGCCAATGATATGCTGATATTTGGATCTTTAACTGCCTGGTTCTTAAAAGAGGTGACAGATCATGCAGATGGTAAATATGTC
GTTGCCCAATTCCATGAATGGCAGGCTGGAATTGGACTGATCCTTTCTCGAGCCAGGAAACTTCCTATTGCCACAATATTTACAACCCACGCTACACTACTTGGG
AGGTATCTCTGTGCAGCAAATATTGATTTCTACAACCATCTTGATAAGTTTAACATTGACAAAGAGGCTGGGGAAAGGCAGATTTACCACCGGTACTGCATGGAG
CGAGCTTCCGTTCATTGCGCTCACGTGTTCACCACGGTTTCTGAAATAACAGCAATAGAAGCTGAACATATGCTGAAGAGAAAGCCTGATGTAGTTACTCCAAAC
GGCTTGAATGTTAAGAAATTTTCAGCAGTGCATGAGTTTCAAAATCTACATGCCATGTACAAGGCCAGAATCCAAGATTTTGTTCGAGGTCATTTCTATGGTCAT
CTCGACTTTGATCTTGAAAAGACTTTGTTCCTTTTCATTGCTGGGAGGTATGAGTTTTCAAACAAAGGAGCTGACATCTTCCTAGAATCCTTATCCAGGCTAAAT
TTCCTGCTGAGGATGCATAAAAGTGACATCACAGTGATGGTGTTTTTCATTATGCCTGCCAAGACAAATAATTTCAACGTGGAAACCCTGAAAGGACAAGCAGTG
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>GYS2|2998|protein
MLRGRSLSVTSLGGLPQWEVEELPVEELLLFEVAWEVTNKVGGIYTVIQTKAKTTADEWGENYFLIGPYFEHNMKTQVEQCEPVNDAVRRAVDAMNKHGCQVHFG
RWLIEGSPYVVLFDIGYSAWNLDRWKGDLWEACSVGIPYHDREANDMLIFGSLTAWFLKEVTDHADGKYVVAQFHEWQAGIGLILSRARKLPIATIFTTHATLLG
RYLCAANIDFYNHLDKFNIDKEAGERQIYHRYCMERASVHCAHVFTTVSEITAIEAEHMLKRKPDVVTPNGLNVKKFSAVHEFQNLHAMYKARIQDFVRGHFYGH
LDFDLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSDITVMVFFIMPAKTNNFNVETLKGQAVRKQLWDVAHSVKEKFGKKLYDALLRGEIPDLNDIL
DRDDLTIMKRAIFSTQRQSLPPVTTHNMIDDSTDPILSTIRRIGLFNNRTDRVKVILHPEFLSSTSPLLPMDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIP
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top