AutismKB 2.0

Evidence Details for GABRA6


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Basic Information Top
Gene Symbol:GABRA6 ( MGC116903,MGC116904 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 6
Band: 5q34
Quick LinksEntrez ID:2559; OMIM: 137143; Uniprot ID:GBRA6_HUMAN; ENSEMBL ID: ENSG00000145863; HGNC ID: 4080
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GABRA6|2559|nucleotide
ATGGCGTCGTCTCTGCCCTGGCTGTGCATTATTCTGTGGCTAGAAAATGCCCTAGGGAAACTCGAAGTTGAAGGCAACTTCTACTCAGAAAACGTCAGTCGGATC
CTGGACAACTTGCTTGAAGGCTATGACAATCGGCTGCGGCCGGGATTTGGAGGTGCTGTCACTGAAGTCAAAACAGACATTTATGTGACCAGTTTTGGGCCCGTG
TCAGATGTGGAGATGGAGTATACGATGGATGTTTTTTTCCGCCAGACCTGGACTGATGAGAGGTTGAAGTTTGGGGGGCCAACTGAGATTCTGAGTCTGAATAAT
TTGATGGTCAGTAAAATCTGGACGCCTGACACCTTTTTCAGAAATGGTAAAAAGTCCATTGCTCACAACATGACAACTCCTAATAAACTCTTCAGAATAATGCAG
AATGGAACCATTTTATACACCATGAGGCTTACCATCAATGCTGACTGTCCCATGAGGCTGGTTAACTTTCCTATGGATGGGCATGCTTGTCCACTCAAGTTTGGG
AGCTATGCTTATCCCAAAAGTGAAATCATATATACGTGGAAAAAAGGACCACTTTACTCAGTAGAAGTCCCAGAAGAATCTTCAAGCCTTCTCCAGTATGATCTG
ATTGGACAAACAGTATCTAGTGAGACAATTAAATCTAACACAGGTGAATACGTTATAATGACAGTTTACTTCCACTTGCAAAGGAAGATGGGCTACTTCATGATA
CAGATATACACTCCTTGCATTATGACAGTCATTCTTTCCCAGGTGTCTTTCTGGATTAATAAGGAGTCCGTCCCAGCAAGAACTGTTTTTGGGATCACCACTGTT
TTAACTATGACCACTTTGAGCATCAGTGCCCGGCACTCTTTGCCAAAAGTGTCATATGCCACTGCCATGGATTGGTTCATAGCTGTTTGCTTTGCATTCGTCTTC
TCTGCGCTTATCGAGTTCGCAGCTGTCAACTACTTTACCAATCTTCAGACACAGAAGGCCAAAAGGAAGGCACAGTTTGCAGCCCCACCCACAGTGACAATATCA
AAAGCTACTGAACCTTTGGAAGCTGAGATTGTTTTGCATCCTGACTCCAAATATCATCTGAAGAAAAGGATCACTTCTCTGTCTTTGCCAATAGTTTCATCTTCC
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>GABRA6|2559|protein
MASSLPWLCIILWLENALGKLEVEGNFYSENVSRILDNLLEGYDNRLRPGFGGAVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWTDERLKFGGPTEILSLNN
LMVSKIWTPDTFFRNGKKSIAHNMTTPNKLFRIMQNGTILYTMRLTINADCPMRLVNFPMDGHACPLKFGSYAYPKSEIIYTWKKGPLYSVEVPEESSSLLQYDL
IGQTVSSETIKSNTGEYVIMTVYFHLQRKMGYFMIQIYTPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVF
SALIEFAAVNYFTNLQTQKAKRKAQFAAPPTVTISKATEPLEAEIVLHPDSKYHLKKRITSLSLPIVSSSEANKVLTRAPILQSTPVTPPPLSPAFGGTSKIDQY
SRILFPVAFAGFNLVYWVVYLSKDTMEVSSSVE
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Evidence summary Top

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top