Evidence Details for GABRE
Basic Information Top
| Gene Symbol: | GABRE ( - ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, epsilon |
| Band: | Xq28 |
| Quick Links | Entrez ID:2564; OMIM: 300093; Uniprot ID:GBRE_HUMAN; ENSEMBL ID: ENSG00000102287; HGNC ID: 4085 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRE|2564|nucleotide
ATGTTGTCCAAAGTTCTTCCAGTCCTCCTAGGCATCTTATTGATCCTCCAGTCGAGGGTCGAGGGACCTCAGACTGAATCAAAGAATGAAGCCTCTTCCCGTGAT
GTTGTCTATGGCCCCCAGCCCCAGCCTCTGGAAAATCAGCTCCTCTCTGAGGAAACAAAGTCAACTGAGACTGAGACTGGGAGCAGAGTTGGCAAACTGCCAGAA
GCCTCTCGCATCCTGAACACTATCCTGAGTAATTATGACCACAAACTGCGCCCTGGCATTGGAGAGAAGCCCACTGTGGTCACTGTTGAGATCTCCGTCAACAGC
CTTGGTCCTCTCTCTATCCTAGACATGGAATACACCATTGACATCATCTTCTCCCAGACCTGGTACGACGAACGCCTCTGTTACAACGACACCTTTGAGTCTCTT
GTTCTGAATGGCAATGTGGTGAGCCAGCTATGGATCCCGGACACCTTTTTTAGGAATTCTAAGAGGACCCACGAGCATGAGATCACCATGCCCAACCAGATGGTC
CGCATCTACAAGGATGGCAAGGTGTTGTACACAATTAGGATGACCATTGATGCCGGATGCTCACTCCACATGCTCAGATTTCCAATGGATTCTCACTCTTGCCCT
CTATCTTTCTCTAGCTTTTCCTATCCTGAGAATGAGATGATCTACAAGTGGGAAAATTTCAAGCTTGAAATCAATGAGAAGAACTCCTGGAAGCTCTTCCAGTTT
GATTTTACAGGAGTGAGCAACAAAACTGAAATAATCACAACCCCAGTTGGTGACTTCATGGTCATGACGATTTTCTTCAATGTGAGCAGGCGGTTTGGCTATGTT
GCCTTTCAAAACTATGTCCCTTCTTCCGTGACCACGATGCTCTCCTGGGTTTCCTTTTGGATCAAGACAGAGTCTGCTCCAGCCCGGACCTCTCTAGGGATCACC
TCTGTTCTGACCATGACCACGTTGGGCACCTTTTCTCGTAAGAATTTCCCGCGTGTCTCCTATATCACAGCCTTGGATTTCTATATCGCCATCTGCTTCGTCTTC
TGCTTCTGCGCTCTGTTGGAGTTTGCTGTGCTCAACTTCCTGATCTACAACCAGACAAAAGCCCATGCTTCTCCTAAACTCCGCCATCCTCGTATCAATAGCCGT
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ATGTTGTCCAAAGTTCTTCCAGTCCTCCTAGGCATCTTATTGATCCTCCAGTCGAGGGTCGAGGGACCTCAGACTGAATCAAAGAATGAAGCCTCTTCCCGTGAT
GTTGTCTATGGCCCCCAGCCCCAGCCTCTGGAAAATCAGCTCCTCTCTGAGGAAACAAAGTCAACTGAGACTGAGACTGGGAGCAGAGTTGGCAAACTGCCAGAA
GCCTCTCGCATCCTGAACACTATCCTGAGTAATTATGACCACAAACTGCGCCCTGGCATTGGAGAGAAGCCCACTGTGGTCACTGTTGAGATCTCCGTCAACAGC
CTTGGTCCTCTCTCTATCCTAGACATGGAATACACCATTGACATCATCTTCTCCCAGACCTGGTACGACGAACGCCTCTGTTACAACGACACCTTTGAGTCTCTT
GTTCTGAATGGCAATGTGGTGAGCCAGCTATGGATCCCGGACACCTTTTTTAGGAATTCTAAGAGGACCCACGAGCATGAGATCACCATGCCCAACCAGATGGTC
CGCATCTACAAGGATGGCAAGGTGTTGTACACAATTAGGATGACCATTGATGCCGGATGCTCACTCCACATGCTCAGATTTCCAATGGATTCTCACTCTTGCCCT
CTATCTTTCTCTAGCTTTTCCTATCCTGAGAATGAGATGATCTACAAGTGGGAAAATTTCAAGCTTGAAATCAATGAGAAGAACTCCTGGAAGCTCTTCCAGTTT
GATTTTACAGGAGTGAGCAACAAAACTGAAATAATCACAACCCCAGTTGGTGACTTCATGGTCATGACGATTTTCTTCAATGTGAGCAGGCGGTTTGGCTATGTT
GCCTTTCAAAACTATGTCCCTTCTTCCGTGACCACGATGCTCTCCTGGGTTTCCTTTTGGATCAAGACAGAGTCTGCTCCAGCCCGGACCTCTCTAGGGATCACC
TCTGTTCTGACCATGACCACGTTGGGCACCTTTTCTCGTAAGAATTTCCCGCGTGTCTCCTATATCACAGCCTTGGATTTCTATATCGCCATCTGCTTCGTCTTC
TGCTTCTGCGCTCTGTTGGAGTTTGCTGTGCTCAACTTCCTGATCTACAACCAGACAAAAGCCCATGCTTCTCCTAAACTCCGCCATCCTCGTATCAATAGCCGT
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>GABRE|2564|protein
MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETETGSRVGKLPEASRILNTILSNYDHKLRPGIGEKPTVVTVEISVNS
LGPLSILDMEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCP
LSFSSFSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGIT
SVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEER
PSCSAQQPPSPGSPEGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL
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MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETETGSRVGKLPEASRILNTILSNYDHKLRPGIGEKPTVVTVEISVNS
LGPLSILDMEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCP
LSFSSFSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGIT
SVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEER
PSCSAQQPPSPGSPEGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL
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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) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.09658 | Up | 0.00328757 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Nava C, 2012 | France | - |  |  | ASD | 12 | - | 12 | - | - |
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.