AutismKB 2.0

Evidence Details for GABRR1


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Basic Information Top
Gene Symbol:GABRR1 ( MGC163216 )
Gene Full Name: gamma-aminobutyric acid (GABA) receptor, rho 1
Band: 6q15
Quick LinksEntrez ID:2569; OMIM: 137161; Uniprot ID:GBRR1_HUMAN; ENSEMBL ID: ENSG00000146276; HGNC ID: 4090
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GABRR1|2569|nucleotide
ATGTTGGCTGTCCCAAATATGAGATTTGGCATCTTTCTTTTGTGGTGGGGATGGGTTTTGGCCACTGAAAGCAGAATGCACTGGCCCGGAAGAGAAGTCCACGAG
ATGTCTAAGAAAGGCAGGCCCCAAAGACAAAGACGAGAAGTACATGAAGATGCCCACAAGCAAGTCAGCCCAATTCTGAGACGAAGTCCTGACATCACCAAATCG
CCTCTGACAAAGTCAGAACAGCTTCTGAGGATAGATGACCATGATTTCAGCATGAGGCCTGGCTTTGGAGGCCCTGCCATTCCTGTTGGTGTGGATGTGCAGGTG
GAGAGTTTGGATAGCATCTCAGAGGTTGACATGGACTTTACGATGACCCTCTACCTGAGGCACTACTGGAAGGACGAGAGGCTGTCTTTTCCAAGCACCAACAAC
CTCAGCATGACGTTTGATGGCCGGCTGGTCAAGAAGATCTGGGTCCCTGACATGTTTTTCGTGCACTCCAAACGCTCCTTCATCCACGACACCACCACAGACAAC
GTCATGTTGCGGGTCCAGCCTGATGGGAAAGTGCTCTATAGTCTCAGGGTTACAGTAACTGCAATGTGCAACATGGACTTCAGCCGATTTCCCTTGGACACACAA
ACGTGCTCTCTTGAAATTGAAAGCTATGCCTATACAGAAGATGACCTCATGCTGTACTGGAAAAAGGGCAATGACTCCTTAAAGACAGATGAACGGATCTCACTC
TCCCAGTTCCTCATTCAGGAATTCCACACCACCACCAAACTGGCTTTCTACAGCAGCACAGGCTGGTACAACCGTCTCTACATTAATTTCACGTTGCGTCGCCAC
ATCTTCTTCTTCTTGCTCCAAACTTATTTCCCCGCTACCCTGATGGTCATGCTGTCCTGGGTGTCCTTCTGGATCGACCGCAGAGCCGTGCCTGCCAGAGTCCCC
TTAGGTATCACAACGGTGCTGACCATGTCCACCATCATCACGGGCGTGAATGCCTCCATGCCGCGCGTCTCCTACATCAAGGCCGTGGACATCTACCTCTGGGTC
AGCTTTGTGTTCGTGTTCCTCTCGGTGCTGGAGTATGCGGCCGTCAACTACCTGACCACTGTGCAGGAGAGGAAGGAACAGAAGCTGCGGGAGAAGCTTCCCTGC
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>GABRR1|2569|protein
MLAVPNMRFGIFLLWWGWVLATESRMHWPGREVHEMSKKGRPQRQRREVHEDAHKQVSPILRRSPDITKSPLTKSEQLLRIDDHDFSMRPGFGGPAIPVGVDVQV
ESLDSISEVDMDFTMTLYLRHYWKDERLSFPSTNNLSMTFDGRLVKKIWVPDMFFVHSKRSFIHDTTTDNVMLRVQPDGKVLYSLRVTVTAMCNMDFSRFPLDTQ
TCSLEIESYAYTEDDLMLYWKKGNDSLKTDERISLSQFLIQEFHTTTKLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSWVSFWIDRRAVPARVP
LGITTVLTMSTIITGVNASMPRVSYIKAVDIYLWVSFVFVFLSVLEYAAVNYLTTVQERKEQKLREKLPCTSGLPPPRTAMLDGNYSDGEVNDLDNYMPENGEKP
DRMMVQLTLASERSSPQRKSQRSSYVSMRIDTHAIDKYSRIIFPAAYILFNLIYWSIFS
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top