AutismKB 2.0

Evidence Details for GABRE


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Basic Information Top
Gene Symbol:GABRE ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, epsilon
Band: Xq28
Quick LinksEntrez 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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>GABRE|2564|protein
MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETETGSRVGKLPEASRILNTILSNYDHKLRPGIGEKPTVVTVEISVNS
LGPLSILDMEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCP
LSFSSFSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGIT
SVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEER
PSCSAQQPPSPGSPEGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL
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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 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top