Evidence Details for GABRB1
Basic Information Top
| Gene Symbol: | GABRB1 ( - ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, beta 1 |
| Band: | 4p12 |
| Quick Links | Entrez ID:2560; OMIM: 137190; Uniprot ID:GBRB1_HUMAN; ENSEMBL ID: ENSG00000163288; HGNC ID: 4081 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRB1|2560|nucleotide
ATGTGGACAGTACAAAATCGAGAGAGTCTGGGGCTTCTCTCTTTCCCTGTGATGATTACCATGGTCTGTTGTGCACACAGCACCAATGAACCCAGCAACATGTCA
TACGTGAAAGAGACAGTGGACAGATTGCTCAAAGGATATGACATTCGCTTGCGGCCGGACTTCGGAGGGCCCCCCGTCGACGTTGGGATGCGGATCGATGTCGCC
AGCATAGACATGGTCTCCGAAGTGAATATGGATTATACACTCACCATGTATTTCCAGCAGTCTTGGAAAGACAAAAGGCTTTCTTATTCTGGAATCCCACTGAAC
CTCACCCTAGACAATAGGGTAGCTGACCAACTCTGGGTACCAGACACCTACTTTCTGAATGACAAGAAATCATTTGTGCATGGGGTCACAGTGAAAAATCGAATG
ATTCGACTGCATCCTGATGGAACAGTTCTCTATGGACTCCGAATCACAACCACAGCTGCATGTATGATGGATCTTCGAAGATATCCACTGGATGAGCAGAACTGC
ACCCTGGAGATCGAAAGTTATGGCTATACCACTGATGACATTGAATTTTACTGGAATGGAGGAGAAGGGGCAGTCACTGGTGTTAATAAAATCGAACTTCCTCAA
TTTTCAATTGTTGACTACAAGATGGTGTCTAAGAAGGTGGAGTTCACAACAGGAGCGTATCCACGACTGTCACTAAGTTTTCGTCTAAAGAGAAACATTGGTTAC
TTCATTTTGCAAACCTACATGCCTTCTACACTGATTACAATTCTGTCCTGGGTGTCTTTTTGGATCAACTATGATGCATCTGCAGCCAGAGTCGCACTAGGAATC
ACGACAGTGCTTACAATGACAACCATCAGCACCCACCTCAGGGAGACCCTGCCAAAGATCCCTTATGTCAAAGCGATTGATATTTATCTGATGGGTTGCTTTGTG
TTTGTGTTCCTGGCTCTGCTGGAGTATGCCTTTGTAAATTACATCTTCTTTGGGAAAGGCCCTCAGAAAAAGGGAGCTAGCAAACAAGACCAGAGTGCCAATGAG
AAGAATAAACTGGAGATGAATAAAGTCCAGGTCGACGCCCACGGTAACATTCTCCTCAGCACCCTGGAAATCCGGAATGAGACGAGTGGCTCGGAAGTGCTCACG
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ATGTGGACAGTACAAAATCGAGAGAGTCTGGGGCTTCTCTCTTTCCCTGTGATGATTACCATGGTCTGTTGTGCACACAGCACCAATGAACCCAGCAACATGTCA
TACGTGAAAGAGACAGTGGACAGATTGCTCAAAGGATATGACATTCGCTTGCGGCCGGACTTCGGAGGGCCCCCCGTCGACGTTGGGATGCGGATCGATGTCGCC
AGCATAGACATGGTCTCCGAAGTGAATATGGATTATACACTCACCATGTATTTCCAGCAGTCTTGGAAAGACAAAAGGCTTTCTTATTCTGGAATCCCACTGAAC
CTCACCCTAGACAATAGGGTAGCTGACCAACTCTGGGTACCAGACACCTACTTTCTGAATGACAAGAAATCATTTGTGCATGGGGTCACAGTGAAAAATCGAATG
ATTCGACTGCATCCTGATGGAACAGTTCTCTATGGACTCCGAATCACAACCACAGCTGCATGTATGATGGATCTTCGAAGATATCCACTGGATGAGCAGAACTGC
ACCCTGGAGATCGAAAGTTATGGCTATACCACTGATGACATTGAATTTTACTGGAATGGAGGAGAAGGGGCAGTCACTGGTGTTAATAAAATCGAACTTCCTCAA
TTTTCAATTGTTGACTACAAGATGGTGTCTAAGAAGGTGGAGTTCACAACAGGAGCGTATCCACGACTGTCACTAAGTTTTCGTCTAAAGAGAAACATTGGTTAC
TTCATTTTGCAAACCTACATGCCTTCTACACTGATTACAATTCTGTCCTGGGTGTCTTTTTGGATCAACTATGATGCATCTGCAGCCAGAGTCGCACTAGGAATC
ACGACAGTGCTTACAATGACAACCATCAGCACCCACCTCAGGGAGACCCTGCCAAAGATCCCTTATGTCAAAGCGATTGATATTTATCTGATGGGTTGCTTTGTG
TTTGTGTTCCTGGCTCTGCTGGAGTATGCCTTTGTAAATTACATCTTCTTTGGGAAAGGCCCTCAGAAAAAGGGAGCTAGCAAACAAGACCAGAGTGCCAATGAG
AAGAATAAACTGGAGATGAATAAAGTCCAGGTCGACGCCCACGGTAACATTCTCCTCAGCACCCTGGAAATCCGGAATGAGACGAGTGGCTCGGAAGTGCTCACG
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>GABRB1|2560|protein
MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPPVDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLN
LTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQ
FSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFV
FVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR
HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH
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MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPPVDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLN
LTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQ
FSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFV
FVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR
HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH
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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 (1) | 0 (0) | 0 (3) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (6) |
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 | ||||||
| Sabaratnam, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top