Evidence Details for GABRA2
Basic Information Top
| Gene Symbol: | GABRA2 ( FLJ97076 ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, alpha 2 |
| Band: | 4p12 |
| Quick Links | Entrez ID:2555; OMIM: 137140; Uniprot ID:GBRA2_HUMAN; ENSEMBL ID: ENSG00000151834; HGNC ID: 4076 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRA2|2555|nucleotide
ATGAAGACAAAATTGAACATCTACAACATGCAGTTCCTGCTTTTTGTTTTCTTGGTGTGGGACCCTGCCAGGTTGGTGCTGGCTAACATCCAAGAAGATGAGGCT
AAAAATAACATTACCATCTTTACGAGAATTCTTGACAGACTTCTGGATGGTTACGATAATCGGCTTAGACCAGGACTGGGAGACAGTATTACTGAAGTCTTCACT
AACATCTACGTGACCAGTTTTGGCCCTGTCTCAGATACAGATATGGAATATACAATTGATGTTTTCTTTCGACAAAAATGGAAAGATGAACGTTTAAAATTTAAA
GGTCCTATGAATATCCTTCGACTAAACAATTTAATGGCTAGCAAAATCTGGACTCCAGATACCTTTTTTCACAATGGGAAAAAATCAGTAGCTCATAATATGACA
ATGCCAAATAAGTTGCTTCGAATTCAGGATGATGGGACTCTGCTGTATACCATGAGGCTTACAGTTCAAGCTGAATGCCCAATGCACTTGGAGGATTTCCCAATG
GATGCTCATTCATGTCCTCTGAAATTTGGCAGCTATGCATATACAACTTCAGAGGTCACTTATATTTGGACTTACAATGCATCTGATTCAGTACAGGTTGCTCCT
GATGGCTCTAGGTTAAATCAATATGACCTGCTGGGCCAATCAATCGGAAAGGAGACAATTAAATCCAGTACAGGTGAATATACTGTAATGACAGCTCATTTCCAC
CTGAAAAGAAAAATTGGGTATTTTGTGATTCAAACCTATCTGCCTTGCATCATGACTGTCATTCTCTCCCAAGTTTCATTCTGGCTTAACAGAGAATCTGTGCCT
GCAAGAACTGTGTTTGGAGTAACAACTGTCCTAACAATGACAACTCTAAGCATCAGTGCTCGGAATTCTCTCCCCAAAGTGGCTTATGCAACTGCCATGGACTGG
TTTATTGCTGTTTGTTATGCATTTGTGTTCTCTGCCCTAATTGAATTTGCAACTGTTAATTACTTCACCAAAAGAGGATGGGCTTGGGATGGGAAGAGTGTAGTA
AATGACAAGAAAAAAGAAAAGGCTTCCGTTATGATACAGAACAACGCTTATGCAGTGGCTGTTGCCAATTATGCCCCGAATCTTTCAAAAGATCCAGTTCTCTCC
Show »
ATGAAGACAAAATTGAACATCTACAACATGCAGTTCCTGCTTTTTGTTTTCTTGGTGTGGGACCCTGCCAGGTTGGTGCTGGCTAACATCCAAGAAGATGAGGCT
AAAAATAACATTACCATCTTTACGAGAATTCTTGACAGACTTCTGGATGGTTACGATAATCGGCTTAGACCAGGACTGGGAGACAGTATTACTGAAGTCTTCACT
AACATCTACGTGACCAGTTTTGGCCCTGTCTCAGATACAGATATGGAATATACAATTGATGTTTTCTTTCGACAAAAATGGAAAGATGAACGTTTAAAATTTAAA
GGTCCTATGAATATCCTTCGACTAAACAATTTAATGGCTAGCAAAATCTGGACTCCAGATACCTTTTTTCACAATGGGAAAAAATCAGTAGCTCATAATATGACA
ATGCCAAATAAGTTGCTTCGAATTCAGGATGATGGGACTCTGCTGTATACCATGAGGCTTACAGTTCAAGCTGAATGCCCAATGCACTTGGAGGATTTCCCAATG
GATGCTCATTCATGTCCTCTGAAATTTGGCAGCTATGCATATACAACTTCAGAGGTCACTTATATTTGGACTTACAATGCATCTGATTCAGTACAGGTTGCTCCT
GATGGCTCTAGGTTAAATCAATATGACCTGCTGGGCCAATCAATCGGAAAGGAGACAATTAAATCCAGTACAGGTGAATATACTGTAATGACAGCTCATTTCCAC
CTGAAAAGAAAAATTGGGTATTTTGTGATTCAAACCTATCTGCCTTGCATCATGACTGTCATTCTCTCCCAAGTTTCATTCTGGCTTAACAGAGAATCTGTGCCT
GCAAGAACTGTGTTTGGAGTAACAACTGTCCTAACAATGACAACTCTAAGCATCAGTGCTCGGAATTCTCTCCCCAAAGTGGCTTATGCAACTGCCATGGACTGG
TTTATTGCTGTTTGTTATGCATTTGTGTTCTCTGCCCTAATTGAATTTGCAACTGTTAATTACTTCACCAAAAGAGGATGGGCTTGGGATGGGAAGAGTGTAGTA
AATGACAAGAAAAAAGAAAAGGCTTCCGTTATGATACAGAACAACGCTTATGCAGTGGCTGTTGCCAATTATGCCCCGAATCTTTCAAAAGATCCAGTTCTCTCC
Show »
>GABRA2|2555|protein
MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFK
GPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAP
DGSRLNQYDLLGQSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
FIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM
SRIVFPVLFGTFNLVYWATYLNREPVLGVSP
Show »
MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFK
GPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAP
DGSRLNQYDLLGQSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
FIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM
SRIVFPVLFGTFNLVYWATYLNREPVLGVSP
Show »
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) | 1 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 24 (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 |
Linkage Studies Top