AutismKB 2.0

Evidence Details for CRYGS


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Basic Information Top
Gene Symbol:CRYGS ( CRYG8 )
Gene Full Name: crystallin, gamma S
Band: 3q27.3
Quick LinksEntrez ID:1427; OMIM: 123730; Uniprot ID:CRBS_HUMAN; ENSEMBL ID: ENSG00000213139; HGNC ID: 2417
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CRYGS|1427|nucleotide
ATGTCTAAAACTGGAACCAAGATTACTTTCTATGAAGACAAAAATTTTCAAGGCCGTCGCTATGACTGTGATTGCGACTGTGCAGATTTCCACACATACCTAAGT
CGCTGCAACTCCATTAAAGTGGAAGGAGGCACCTGGGCTGTTTATGAAAGGCCCAACTTTGCTGGGTACATGTACATCTTACCACAGGGAGAGTACCCTGAATAC
CAGCGTTGGATGGGCCTCAACGACCGCCTCAGCTCCTGCAGAGCTGTTCATCTGCCTAGTGGAGGCCAGTATAAGATTCAGATCTTTGAGAAAGGGGATTTTAGT
GGTCAGATGTATGAAACCACCGAAGATTGCCCTTCCATCATGGAGCAATTTCACATGCGAGAGATCCACTCCTGTAAGGTGCTGGAGGGTGTCTGGATTTTCTAT
GAGCTACCCAACTACCGTGGCAGGCAGTACCTCCTGGACAAGAAGGAGTACCGGAAGCCCATCGATTGGGGTGCAGCCTCCCCAGCTGTCCAGTCTTTCCGCCGC
ATTGTGGAGTAA





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>CRYGS|1427|protein
MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEYQRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFS
GQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFYELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE



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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) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top