Evidence Details for CRYBA1
Basic Information Top
| Gene Symbol: | CRYBA1 ( CRYB1 ) |
|---|---|
| Gene Full Name: | crystallin, beta A1 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:1411; OMIM: 123610; Uniprot ID:CRBA1_HUMAN; ENSEMBL ID: ENSG00000108255; HGNC ID: 2394 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CRYBA1|1411|nucleotide
ATGGAGACCCAGGCTGAGCAGCAGGAGCTGGAAACCCTTCCAACCACCAAGATGGCTCAGACCAACCCTACGCCGGGGTCCCTGGGGCCATGGAAGATAACCATC
TATGATCAGGAGAACTTTCAGGGCAAGAGGATGGAGTTCACCAGCTCCTGTCCAAATGTCTCTGAGCGCAGTTTTGATAATGTCCGGTCCCTGAAGGTGGAAAGT
GGCGCCTGGATTGGTTATGAGCATACCAGCTTCTGTGGGCAACAGTTTATCCTGGAGAGAGGAGAATACCCTCGCTGGGATGCCTGGAGTGGGAGTAATGCCTAC
CACATTGAGCGTCTCATGTCCTTCCGCCCCATCTGTTCAGCTAATCATAAGGAGTCTAAGATGACCATCTTTGAGAAGGAAAACTTTATTGGACGCCAGTGGGAG
ATCTCTGACGACTACCCCTCCTTGCAAGCCATGGGCTGGTTCAACAACGAAGTCGGCTCCATGAAGATACAAAGTGGGGCCTGGGTTTGCTACCAATATCCTGGA
TATCGTGGGTATCAGTATATCTTGGAATGTGACCATCATGGAGGAGACTATAAACATTGGAGAGAGTGGGGCTCTCATGCCCAGACTTCGCAGATCCAATCGATT
CGCCGAATCCAACAGTAG
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ATGGAGACCCAGGCTGAGCAGCAGGAGCTGGAAACCCTTCCAACCACCAAGATGGCTCAGACCAACCCTACGCCGGGGTCCCTGGGGCCATGGAAGATAACCATC
TATGATCAGGAGAACTTTCAGGGCAAGAGGATGGAGTTCACCAGCTCCTGTCCAAATGTCTCTGAGCGCAGTTTTGATAATGTCCGGTCCCTGAAGGTGGAAAGT
GGCGCCTGGATTGGTTATGAGCATACCAGCTTCTGTGGGCAACAGTTTATCCTGGAGAGAGGAGAATACCCTCGCTGGGATGCCTGGAGTGGGAGTAATGCCTAC
CACATTGAGCGTCTCATGTCCTTCCGCCCCATCTGTTCAGCTAATCATAAGGAGTCTAAGATGACCATCTTTGAGAAGGAAAACTTTATTGGACGCCAGTGGGAG
ATCTCTGACGACTACCCCTCCTTGCAAGCCATGGGCTGGTTCAACAACGAAGTCGGCTCCATGAAGATACAAAGTGGGGCCTGGGTTTGCTACCAATATCCTGGA
TATCGTGGGTATCAGTATATCTTGGAATGTGACCATCATGGAGGAGACTATAAACATTGGAGAGAGTGGGGCTCTCATGCCCAGACTTCGCAGATCCAATCGATT
CGCCGAATCCAACAGTAG
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>CRYBA1|1411|protein
METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSFDNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAY
HIERLMSFRPICSANHKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSI
RRIQQ
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METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSFDNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAY
HIERLMSFRPICSANHKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSI
RRIQQ
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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) | 0 (0) | 2 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| McCauley, 2005 | - | microsatellite-based genomic screen |  |  | autism | 158 | - | 158 | - | 333 | - | - |
| Yonan, 2003 | USA | microsatellite-based genomic screen | | | PDD | 345 | - | 345 | - | - | - | - |
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | | | ASD | 314 | - | 314 | - | - | - | - |
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
| Sutcliffe, 2005 | USA, AGRE | microsatellite-based genomic screen | | | ASD | 341 | - | 341 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.