Evidence Details for CRYGS
Basic Information Top
Gene Symbol: | CRYGS ( CRYG8 ) |
---|---|
Gene Full Name: | crystallin, gamma S |
Band: | 3q27.3 |
Quick Links | Entrez 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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ATGTCTAAAACTGGAACCAAGATTACTTTCTATGAAGACAAAAATTTTCAAGGCCGTCGCTATGACTGTGATTGCGACTGTGCAGATTTCCACACATACCTAAGT
CGCTGCAACTCCATTAAAGTGGAAGGAGGCACCTGGGCTGTTTATGAAAGGCCCAACTTTGCTGGGTACATGTACATCTTACCACAGGGAGAGTACCCTGAATAC
CAGCGTTGGATGGGCCTCAACGACCGCCTCAGCTCCTGCAGAGCTGTTCATCTGCCTAGTGGAGGCCAGTATAAGATTCAGATCTTTGAGAAAGGGGATTTTAGT
GGTCAGATGTATGAAACCACCGAAGATTGCCCTTCCATCATGGAGCAATTTCACATGCGAGAGATCCACTCCTGTAAGGTGCTGGAGGGTGTCTGGATTTTCTAT
GAGCTACCCAACTACCGTGGCAGGCAGTACCTCCTGGACAAGAAGGAGTACCGGAAGCCCATCGATTGGGGTGCAGCCTCCCCAGCTGTCCAGTCTTTCCGCCGC
ATTGTGGAGTAA
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>CRYGS|1427|protein
MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEYQRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFS
GQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFYELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE
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MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEYQRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFS
GQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFYELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE
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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 (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 | aCGH | ASD | - | - | - | - | 29 | - | 29 | ||
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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