AutismKB 2.0

Evidence Details for GABRP


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Basic Information Top
Gene Symbol:GABRP ( MGC126386,MGC126387 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, pi
Band: 5q35.1
Quick LinksEntrez ID:2568; OMIM: 602729; Uniprot ID:GBRP_HUMAN; ENSEMBL ID: ENSG00000094755; HGNC ID: 4089
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GABRP|2568|nucleotide
ATGAACTACAGCCTCCACTTGGCCTTCGTGTGTCTGAGTCTCTTCACTGAGAGGATGTGCATCCAGGGGAGTCAGTTCAACGTCGAGGTCGGCAGAAGTGACAAG
CTTTCCCTGCCTGGCTTTGAGAACCTCACAGCAGGATATAACAAATTTCTCAGGCCCAATTTTGGTGGAGAACCCGTACAGATAGCGCTGACTCTGGACATTGCA
AGTATCTCTAGCATTTCAGAGAGTAACATGGACTACACAGCCACCATATACCTCCGACAGCGCTGGATGGACCAGCGGCTGGTGTTTGAAGGCAACAAGAGCTTC
ACTCTGGATGCCCGCCTCGTGGAGTTCCTCTGGGTGCCAGATACTTACATTGTGGAGTCCAAGAAGTCCTTCCTCCATGAAGTCACTGTGGGAAACAGGCTCATC
CGCCTCTTCTCCAATGGCACGGTCCTGTATGCCCTCAGAATCACGACAACTGTTGCATGTAACATGGATCTGTCTAAATACCCCATGGACACACAGACATGCAAG
TTGCAGCTGGAAAGCTGGGGCTATGATGGAAATGATGTGGAGTTCACCTGGCTGAGAGGGAACGACTCTGTGCGTGGACTGGAACACCTGCGGCTTGCTCAGTAC
ACCATAGAGCGGTATTTCACCTTAGTCACCAGATCGCAGCAGGAGACAGGAAATTACACTAGATTGGTCTTACAGTTTGAGCTTCGGAGGAATGTTCTGTATTTC
ATTTTGGAAACCTACGTTCCTTCCACTTTCCTGGTGGTGTTGTCCTGGGTTTCATTTTGGATCTCTCTCGATTCAGTCCCTGCAAGAACCTGCATTGGAGTGACG
ACCGTGTTATCAATGACCACACTGATGATCGGGTCCCGCACTTCTCTTCCCAACACCAACTGCTTCATCAAGGCCATCGATGTGTACCTGGGGATCTGCTTTAGC
TTTGTGTTTGGGGCCTTGCTAGAATATGCAGTTGCTCACTACAGTTCCTTACAGCAGATGGCAGCCAAAGATAGGGGGACAACAAAGGAAGTAGAAGAAGTCAGT
ATTACTAATATCATCAACAGCTCCATCTCCAGCTTTAAACGGAAGATCAGCTTTGCCAGCATTGAAATTTCCAGCGACAACGTTGACTACAGTGACTTGACAATG
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>GABRP|2568|protein
MNYSLHLAFVCLSLFTERMCIQGSQFNVEVGRSDKLSLPGFENLTAGYNKFLRPNFGGEPVQIALTLDIASISSISESNMDYTATIYLRQRWMDQRLVFEGNKSF
TLDARLVEFLWVPDTYIVESKKSFLHEVTVGNRLIRLFSNGTVLYALRITTTVACNMDLSKYPMDTQTCKLQLESWGYDGNDVEFTWLRGNDSVRGLEHLRLAQY
TIERYFTLVTRSQQETGNYTRLVLQFELRRNVLYFILETYVPSTFLVVLSWVSFWISLDSVPARTCIGVTTVLSMTTLMIGSRTSLPNTNCFIKAIDVYLGICFS
FVFGALLEYAVAHYSSLQQMAAKDRGTTKEVEEVSITNIINSSISSFKRKISFASIEISSDNVDYSDLTMKTSDKFKFVFREKMGRIVDYFTIQNPSNVDHYSKL
LFPLIFMLANVFYWAYYMYF
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Evidence summary Top

Click 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) 0 (0) 0 (0) 1 (2) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top