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 TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 3
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Ma, 2005_1 | CAT, AGRE | TaqMan assay | 470 | - (-) |  | | ASD | - (3-21) |
- >35 | |
| Collins, 2006_1 | USA(Non-Hispanic) | Taqman allelic discrimination assays,Applied Biosystem | 557 | - (-) | | | ASD | - (3-21) |
- - | |
| AFRICAN | ||||||||||
| Collins, 2006_2 | USA | - | 54 | - (-) | | | ASD | - (3-21) |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS 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.