Evidence Details for GABRG1
Basic Information Top
| Gene Symbol: | GABRG1 ( DKFZp686H2042,MGC33838 ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, gamma 1 |
| Band: | 4p12 |
| Quick Links | Entrez ID:2565; OMIM: 137166; Uniprot ID:GBRG1_HUMAN; ENSEMBL ID: ENSG00000163285; HGNC ID: 4086 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRG1|2565|nucleotide
ATGGGTCCTTTGAAAGCTTTTCTCTTCTCCCCTTTTCTTCTGCGGAGTCAAAGTAGAGGGGTGAGGTTGGTCTTCTTGTTACTGACCCTGCATTTGGGAAACTGT
GTTGATAAGGCAGATGATGAAGATGATGAGGATTTAACGGTGAACAAAACCTGGGTCTTGGCCCCAAAAATTCATGAAGGAGATATCACACAAATTCTGAATTCA
TTGCTTCAAGGCTATGACAATAAACTTCGTCCAGATATAGGAGTGAGGCCCACAGTAATTGAAACTGATGTTTATGTAAACAGCATTGGACCAGTTGATCCAATT
AATATGGAATATACAATAGATATAATTTTTGCCCAAACCTGGTTTGACAGTCGTTTAAAATTCAATAGTACCATGAAAGTGCTTATGCTTAACAGTAATATGGTT
GGAAAAATTTGGATTCCTGACACTTTCTTCAGAAACTCAAGAAAATCTGATGCTCACTGGATAACAACTCCTAATCGTCTGCTTCGAATTTGGAATGATGGACGA
GTTCTGTATACTCTAAGATTGACAATTAATGCAGAATGTTATCTTCAGCTTCATAACTTTCCCATGGATGAACATTCCTGTCCACTGGAATTTTCAAGCTATGGA
TACCCTAAAAATGAAATTGAGTATAAGTGGAAAAAGCCCTCCGTAGAAGTGGCTGATCCTAAATACTGGAGATTATATCAGTTTGCATTTGTAGGGTTACGGAAC
TCAACTGAAATCACTCACACGATCTCTGGGGATTATGTTATCATGACAATTTTTTTTGACCTGAGCAGAAGAATGGGATATTTCACTATTCAGACCTACATTCCA
TGCATTCTGACAGTTGTTCTTTCTTGGGTGTCTTTTTGGATCAATAAAGATGCAGTGCCTGCAAGAACATCGTTGGGTATCACTACAGTTCTGACTATGACAACC
CTGAGTACAATTGCCAGGAAGTCTTTACCTAAGGTTTCTTATGTGACTGCGATGGATCTCTTTGTTTCTGTTTGTTTCATTTTTGTTTTTGCAGCCTTGATGGAA
TATGGAACCTTGCATTATTTTACCAGCAACCAAAAAGGAAAGACTGCTACTAAAGACAGAAAGCTAAAAAATAAAGCCTCGATGACTCCTGGTCTCCATCCTGGA
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ATGGGTCCTTTGAAAGCTTTTCTCTTCTCCCCTTTTCTTCTGCGGAGTCAAAGTAGAGGGGTGAGGTTGGTCTTCTTGTTACTGACCCTGCATTTGGGAAACTGT
GTTGATAAGGCAGATGATGAAGATGATGAGGATTTAACGGTGAACAAAACCTGGGTCTTGGCCCCAAAAATTCATGAAGGAGATATCACACAAATTCTGAATTCA
TTGCTTCAAGGCTATGACAATAAACTTCGTCCAGATATAGGAGTGAGGCCCACAGTAATTGAAACTGATGTTTATGTAAACAGCATTGGACCAGTTGATCCAATT
AATATGGAATATACAATAGATATAATTTTTGCCCAAACCTGGTTTGACAGTCGTTTAAAATTCAATAGTACCATGAAAGTGCTTATGCTTAACAGTAATATGGTT
GGAAAAATTTGGATTCCTGACACTTTCTTCAGAAACTCAAGAAAATCTGATGCTCACTGGATAACAACTCCTAATCGTCTGCTTCGAATTTGGAATGATGGACGA
GTTCTGTATACTCTAAGATTGACAATTAATGCAGAATGTTATCTTCAGCTTCATAACTTTCCCATGGATGAACATTCCTGTCCACTGGAATTTTCAAGCTATGGA
TACCCTAAAAATGAAATTGAGTATAAGTGGAAAAAGCCCTCCGTAGAAGTGGCTGATCCTAAATACTGGAGATTATATCAGTTTGCATTTGTAGGGTTACGGAAC
TCAACTGAAATCACTCACACGATCTCTGGGGATTATGTTATCATGACAATTTTTTTTGACCTGAGCAGAAGAATGGGATATTTCACTATTCAGACCTACATTCCA
TGCATTCTGACAGTTGTTCTTTCTTGGGTGTCTTTTTGGATCAATAAAGATGCAGTGCCTGCAAGAACATCGTTGGGTATCACTACAGTTCTGACTATGACAACC
CTGAGTACAATTGCCAGGAAGTCTTTACCTAAGGTTTCTTATGTGACTGCGATGGATCTCTTTGTTTCTGTTTGTTTCATTTTTGTTTTTGCAGCCTTGATGGAA
TATGGAACCTTGCATTATTTTACCAGCAACCAAAAAGGAAAGACTGCTACTAAAGACAGAAAGCTAAAAAATAAAGCCTCGATGACTCCTGGTCTCCATCCTGGA
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>GABRG1|2565|protein
MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDDEDLTVNKTWVLAPKIHEGDITQILNSLLQGYDNKLRPDIGVRPTVIETDVYVNSIGPVDPI
NMEYTIDIIFAQTWFDSRLKFNSTMKVLMLNSNMVGKIWIPDTFFRNSRKSDAHWITTPNRLLRIWNDGRVLYTLRLTINAECYLQLHNFPMDEHSCPLEFSSYG
YPKNEIEYKWKKPSVEVADPKYWRLYQFAFVGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQTYIPCILTVVLSWVSFWINKDAVPARTSLGITTVLTMTT
LSTIARKSLPKVSYVTAMDLFVSVCFIFVFAALMEYGTLHYFTSNQKGKTATKDRKLKNKASMTPGLHPGSTLIPMNNISVPQEDDYGYQCLEGKDCASFFCCFE
DCRTGSWREGRIHIRIAKIDSYSRIFFPTAFALFNLVYWVGYLYL
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MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDDEDLTVNKTWVLAPKIHEGDITQILNSLLQGYDNKLRPDIGVRPTVIETDVYVNSIGPVDPI
NMEYTIDIIFAQTWFDSRLKFNSTMKVLMLNSNMVGKIWIPDTFFRNSRKSDAHWITTPNRLLRIWNDGRVLYTLRLTINAECYLQLHNFPMDEHSCPLEFSSYG
YPKNEIEYKWKKPSVEVADPKYWRLYQFAFVGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQTYIPCILTVVLSWVSFWINKDAVPARTSLGITTVLTMTT
LSTIARKSLPKVSYVTAMDLFVSVCFIFVFAALMEYGTLHYFTSNQKGKTATKDRKLKNKASMTPGLHPGSTLIPMNNISVPQEDDYGYQCLEGKDCASFFCCFE
DCRTGSWREGRIHIRIAKIDSYSRIFFPTAFALFNLVYWVGYLYL
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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 (2) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 12 (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 | ||||||
| Sabaratnam, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Polan MB, 2014 | - | aCGH | |  | autism | 2 | 1 | 1 | - | 2 | - | 2 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| 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 | |
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 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.