Evidence Details for GABRA1
Basic Information Top
| Gene Symbol: | GABRA1 ( ECA4,EJM,EJM5 ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, alpha 1 |
| Band: | 5q34 |
| Quick Links | Entrez ID:2554; OMIM: 137160; Uniprot ID:GBRA1_HUMAN; ENSEMBL ID: ENSG00000022355; HGNC ID: 4075 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRA1|2554|nucleotide
ATGAGGAAAAGTCCAGGTCTGTCTGACTGTCTTTGGGCCTGGATCCTCCTTCTGAGCACACTGACTGGAAGAAGCTATGGACAGCCGTCATTACAAGATGAACTT
AAAGACAATACCACTGTCTTCACCAGGATTTTGGACAGACTCCTAGATGGTTATGACAATCGCCTGAGACCAGGATTGGGAGAGCGTGTAACCGAAGTGAAGACT
GATATCTTCGTCACCAGTTTCGGACCCGTTTCAGACCATGATATGGAATATACAATAGATGTATTTTTCCGTCAAAGCTGGAAGGATGAAAGGTTAAAATTTAAA
GGACCTATGACAGTCCTCCGGTTAAATAACCTAATGGCAAGTAAAATCTGGACTCCGGACACATTTTTCCACAATGGAAAGAAGTCAGTGGCCCACAACATGACC
ATGCCCAACAAACTCCTGCGGATCACAGAGGATGGCACCTTGCTGTACACCATGAGGCTGACAGTGAGAGCTGAATGTCCGATGCATTTGGAGGACTTCCCTATG
GATGCCCATGCTTGCCCACTAAAATTTGGAAGTTATGCTTATACAAGAGCAGAAGTTGTTTATGAATGGACCAGAGAGCCAGCACGCTCAGTGGTTGTAGCAGAA
GATGGATCACGTCTAAACCAGTATGACCTTCTTGGACAAACAGTAGACTCTGGAATTGTCCAGTCAAGTACAGGAGAATATGTTGTTATGACCACTCATTTCCAC
TTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCATGCATAATGACAGTGATTCTCTCACAAGTCTCCTTCTGGCTCAACAGAGAGTCTGTACCA
GCAAGAACTGTCTTTGGAGTAACAACTGTGCTCACCATGACAACATTGAGCATCAGTGCCAGAAACTCCCTCCCTAAGGTGGCTTATGCAACAGCTATGGATTGG
TTTATTGCCGTGTGCTATGCCTTTGTGTTCTCAGCTCTGATTGAGTTTGCCACAGTAAACTATTTCACTAAGAGAGGTTATGCATGGGATGGCAAAAGTGTGGTT
CCAGAAAAGCCAAAGAAAGTAAAGGATCCTCTTATTAAGAAAAACAACACTTACGCTCCAACAGCAACCAGCTACACCCCTAATTTGGCCAGGGGCGACCCGGGC
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ATGAGGAAAAGTCCAGGTCTGTCTGACTGTCTTTGGGCCTGGATCCTCCTTCTGAGCACACTGACTGGAAGAAGCTATGGACAGCCGTCATTACAAGATGAACTT
AAAGACAATACCACTGTCTTCACCAGGATTTTGGACAGACTCCTAGATGGTTATGACAATCGCCTGAGACCAGGATTGGGAGAGCGTGTAACCGAAGTGAAGACT
GATATCTTCGTCACCAGTTTCGGACCCGTTTCAGACCATGATATGGAATATACAATAGATGTATTTTTCCGTCAAAGCTGGAAGGATGAAAGGTTAAAATTTAAA
GGACCTATGACAGTCCTCCGGTTAAATAACCTAATGGCAAGTAAAATCTGGACTCCGGACACATTTTTCCACAATGGAAAGAAGTCAGTGGCCCACAACATGACC
ATGCCCAACAAACTCCTGCGGATCACAGAGGATGGCACCTTGCTGTACACCATGAGGCTGACAGTGAGAGCTGAATGTCCGATGCATTTGGAGGACTTCCCTATG
GATGCCCATGCTTGCCCACTAAAATTTGGAAGTTATGCTTATACAAGAGCAGAAGTTGTTTATGAATGGACCAGAGAGCCAGCACGCTCAGTGGTTGTAGCAGAA
GATGGATCACGTCTAAACCAGTATGACCTTCTTGGACAAACAGTAGACTCTGGAATTGTCCAGTCAAGTACAGGAGAATATGTTGTTATGACCACTCATTTCCAC
TTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCATGCATAATGACAGTGATTCTCTCACAAGTCTCCTTCTGGCTCAACAGAGAGTCTGTACCA
GCAAGAACTGTCTTTGGAGTAACAACTGTGCTCACCATGACAACATTGAGCATCAGTGCCAGAAACTCCCTCCCTAAGGTGGCTTATGCAACAGCTATGGATTGG
TTTATTGCCGTGTGCTATGCCTTTGTGTTCTCAGCTCTGATTGAGTTTGCCACAGTAAACTATTTCACTAAGAGAGGTTATGCATGGGATGGCAAAAGTGTGGTT
CCAGAAAAGCCAAAGAAAGTAAAGGATCCTCTTATTAAGAAAAACAACACTTACGCTCCAACAGCAACCAGCTACACCCCTAATTTGGCCAGGGGCGACCCGGGC
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>GABRA1|2554|protein
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFK
GPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAE
DGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
FIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
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MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFK
GPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAE
DGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
FIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
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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 (1) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage 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 Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.631429 | Down | 0.107648 | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
0.615416 | Down | 0.0645537 | |
| ||||||||||||
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 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.