AutismKB 2.0

Evidence Details for GPR133


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Basic Information Top
Gene Symbol:GPR133 ( DKFZp434B1272,FLJ16770,MGC138512,MGC138514,PGR25 )
Gene Full Name: G protein-coupled receptor 133
Band: 12q24.33
Quick LinksEntrez ID:283383; OMIM: NA; Uniprot ID:GP133_HUMAN; ENSEMBL ID: ENSG00000111452; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPR133|283383|nucleotide
ATGGAAAAGCTGCTGCGGCTGTGCTGCTGGTACTCCTGGCTGCTGCTATTTTATTACAACTTTCAGGTGCGTGGCGTCTACTCCAGATCGCAGGACCATCCAGGA
TTTCAGGTGTTGGCGTCTGCTTCCCATTACTGGCCACTGGAGAATGTGGATGGGATCCATGAACTTCAGGATACAACTGGAGATATTGTGGAAGGGAAGGTCAAC
AAAGGCATTTACCTGAAAGAGGAAAAGGGAGTCACGCTTCTCTATTACGGCAGGTACAACAGCTCCTGCATCAGCAAGCCAGAGCAGTGTGGCCCTGAAGGGGTC
ACGTTTTCTTTTTTCTGGAAGACACAAGGAGAACAGTCTAGACCAATCCCTTCTGCGTATGGGGGACAGGTCATCTCCAATGGGTTCAAAGTCTGCTCCAGCGGT
GGCAGAGGCTCTGTGGAGCTGTATACGCGGGACAATTCCATGACATGGGAGGCCTCCTTCAGCCCCCCAGGCCCCTATTGGACTCATGTCCTATTTACATGGAAA
TCCAAGGAGGGCCTGAAAGTCTACGTCAACGGGACCCTGAGCACCTCTGATCCGAGTGGAAAAGTGTCTCGTGACTATGGAGAGTCCAACGTCAACCTCGTGATA
GGGTCTGAGCAGGACCAGGCCAAGTGTTATGAGAACGGTGCTTTCGATGAGTTCATCATCTGGGAGCGGGCTCTGACTCCGGATGAGATCGCCATGTACTTCACT
GCTGCCATTGGAAAGCATGCTTTATTGTCTTCAACGCTGCCAAGCCTCTTCATGACATCCACAGCAAGCCCCGTGATGCCCACAGATGCCTACCATCCCATCATA
ACCAACCTGACAGAAGAGAGAAAAACCTTCCAAAGTCCCGGAGTGATACTGAGTTACCTCCAAAATGTATCCCTCAGCTTACCCAGTAAGTCCCTCTCGGAGCAG
ACAGCCTTGAATCTCACCAAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGACAGCGCCGTGGTACTGAGTCTC
ATCGACACTATTGACACCGTCATGGGCCATGTATCCTCCAACCTGCACGGCAGCACGCCCCAGGTCACCGTGGAGGGCTCCTCTGCCATGGCAGAGTTTTCCGTG
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>GPR133|283383|protein
MEKLLRLCCWYSWLLLFYYNFQVRGVYSRSQDHPGFQVLASASHYWPLENVDGIHELQDTTGDIVEGKVNKGIYLKEEKGVTLLYYGRYNSSCISKPEQCGPEGV
TFSFFWKTQGEQSRPIPSAYGGQVISNGFKVCSSGGRGSVELYTRDNSMTWEASFSPPGPYWTHVLFTWKSKEGLKVYVNGTLSTSDPSGKVSRDYGESNVNLVI
GSEQDQAKCYENGAFDEFIIWERALTPDEIAMYFTAAIGKHALLSSTLPSLFMTSTASPVMPTDAYHPIITNLTEERKTFQSPGVILSYLQNVSLSLPSKSLSEQ
TALNLTKTFLKAVGEILLLPGWIALSEDSAVVLSLIDTIDTVMGHVSSNLHGSTPQVTVEGSSAMAEFSVAKILPKTVNSSHYRFPAHGQSFIQIPHEAFHRHAW
STVVGLLYHSMHYYLNNIWPAHTKIAEAMHHQDCLLFATSHLISLEVSPPPTLSQNLSGSPLITVHLKHRLTRKQHSEATNSSNRVFVYCAFLDFSSGEGVWSNH
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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) 1 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top