AutismKB 2.0

Evidence Details for GABRB2


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Basic Information Top
Gene Symbol:GABRB2 ( MGC119386,MGC119388,MGC119389 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 2
Band: 5q34
Quick LinksEntrez ID:2561; OMIM: 600232; Uniprot ID:GBRB2_HUMAN; ENSEMBL ID: ENSG00000145864; HGNC ID: 4082
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GABRB2|2561|nucleotide
ATGTGGAGAGTGCGGAAAAGGGGCTACTTTGGGATTTGGTCCTTCCCCTTAATAATCGCCGCTGTCTGTGCGCAGAGTGTCAATGACCCTAGTAATATGTCGCTG
GTTAAAGAGACGGTGGATAGACTCCTGAAAGGCTATGACATTCGTCTGAGACCAGATTTTGGAGGTCCCCCCGTGGCTGTGGGGATGAACATTGACATTGCCAGC
ATCGATATGGTTTCTGAAGTCAATATGGATTATACCTTGACAATGTACTTTCAACAAGCCTGGAGAGATAAGAGGCTGTCCTATAATGTAATACCTTTAAACTTG
ACTCTGGACAACAGAGTGGCAGACCAGCTCTGGGTGCCTGATACCTATTTCCTGAACGATAAGAAGTCATTTGTGCACGGAGTGACTGTTAAGAACCGCATGATT
CGCCTGCATCCTGATGGCACCGTCCTTTATGGACTCAGAATCACAACCACAGCTGCCTGCATGATGGACCTAAGGAGGTACCCACTGGATGAACAAAACTGCACC
TTGGAAATTGAGAGCTATGGATACACAACTGATGACATTGAGTTTTACTGGCGTGGCGATGATAATGCAGTAACAGGAGTAACGAAAATTGAACTTCCACAGTTC
TCTATTGTAGATTACAAACTTATCACCAAGAAGGTTGTTTTTTCCACAGGTTCCTATCCCAGGTTATCCCTCAGCTTTAAGCTTAAGAGAAACATTGGCTACTTT
ATCCTGCAAACATACATGCCTTCCATCCTGATTACCATCCTCTCCTGGGTCTCCTTCTGGATTAATTACGATGCTTCAGCTGCAAGGGTGGCATTAGGAATCACA
ACTGTCCTCACAATGACCACAATCAACACCCACCTCCGGGAAACTCTCCCTAAAATCCCCTATGTGAAGGCCATTGACATGTACCTGATGGGGTGCTTTGTCTTC
GTTTTCATGGCCCTTCTGGAATATGCCCTAGTCAACTACATCTTCTTTGGGAGGGGGCCCCAACGCCAAAAGAAAGCAGCTGAGAAGGCTGCCAGTGCCAACAAT
GAGAAGATGCGCCTGGATGTCAACAAGATGGACCCCCATGAGAACATCTTACTGAGCACTCTCGAGATAAAAAATGAAATGGCCACATCTGAGGCTGTGATGGGA
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>GABRB2|2561|protein
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMDYTLTMYFQQAWRDKRLSYNVIPLNL
TLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQF
SIVDYKLITKKVVFSTGSYPRLSLSFKLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVF
VFMALLEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKMDPHENILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALER
HVAQKKSRLRRRASQLKITIPDLTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top