Evidence Details for CRYBB3
Basic Information Top
| Gene Symbol: | CRYBB3 ( CATCN2,CRYB3,MGC125772,MGC125773,MGC125774 ) |
|---|---|
| Gene Full Name: | crystallin, beta B3 |
| Band: | 22q11.23 |
| Quick Links | Entrez ID:1417; OMIM: 123630; Uniprot ID:CRBB3_HUMAN; ENSEMBL ID: ENSG00000100053; HGNC ID: 2400 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CRYBB3|1417|nucleotide
ATGGCGGAACAGCACGGAGCACCCGAACAGGCTGCAGCTGGCAAGAGCCATGGAGACCTTGGGGGCAGCTACAAGGTGATCTTGTACGAACTAGAGAACTTCCAA
GGCAAACGCTGCGAGCTCTCGGCCGAGTGCCCCAGCCTGACCGACAGCCTGCTGGAGAAGGTGGGCTCCATCCAAGTGGAGTCCGGGCCGTGGCTGGCATTTGAG
TCCAGGGCCTTCCGCGGGGAGCAGTTTGTTCTGGAGAAGGGGGATTATCCTCGCTGGGATGCCTGGTCCAACAGCCGTGATAGTGACAGCCTTCTGTCCCTCCGG
CCTCTGAATATTGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGG
GCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGG
GGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGC
AGCTGA
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ATGGCGGAACAGCACGGAGCACCCGAACAGGCTGCAGCTGGCAAGAGCCATGGAGACCTTGGGGGCAGCTACAAGGTGATCTTGTACGAACTAGAGAACTTCCAA
GGCAAACGCTGCGAGCTCTCGGCCGAGTGCCCCAGCCTGACCGACAGCCTGCTGGAGAAGGTGGGCTCCATCCAAGTGGAGTCCGGGCCGTGGCTGGCATTTGAG
TCCAGGGCCTTCCGCGGGGAGCAGTTTGTTCTGGAGAAGGGGGATTATCCTCGCTGGGATGCCTGGTCCAACAGCCGTGATAGTGACAGCCTTCTGTCCCTCCGG
CCTCTGAATATTGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGG
GCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGG
GGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGC
AGCTGA
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>CRYBB3|1417|protein
MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQVESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLLSLR
PLNIDSPHHKLHLFENPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVGYEFPGYRGRQYVFERGEYRHWNEWDASQPQLQSVRRIRDQKWHKRGRFPS
S
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MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQVESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLLSLR
PLNIDSPHHKLHLFENPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVGYEFPGYRGRQYVFERGEYRHWNEWDASQPQLQSVRRIRDQKWHKRGRFPS
S
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Evidence summary TopClick 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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Gregory, 2009 | USA | aCGH |  | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top