AutismKB 2.0

Evidence Details for NPBWR2


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Basic Information Top
Gene Symbol:NPBWR2 ( GPR8 )
Gene Full Name: neuropeptides B/W receptor 2
Band: 20q13.33
Quick LinksEntrez ID:2832; OMIM: 600731; Uniprot ID:NPBW2_HUMAN; ENSEMBL ID: ENSG00000125522; HGNC ID: 4530
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NPBWR2|2832|nucleotide
ATGCAGGCCGCTGGGCACCCAGAGCCCCTTGACAGCAGGGGCTCCTTCTCCCTCCCCACGATGGGTGCCAACGTCTCTCAGGACAATGGCACTGGCCACAATGCC
ACCTTCTCCGAGCCACTGCCGTTCCTCTATGTGCTCCTGCCCGCCGTGTACTCCGGGATCTGTGCTGTGGGGCTGACTGGCAACACGGCCGTCATCCTTGTAATC
CTAAGGGCGCCCAAGATGAAGACGGTGACCAACGTGTTCATCCTGAACCTGGCCGTCGCCGACGGGCTCTTCACGCTGGTACTGCCCGTCAACATCGCGGAGCAC
CTGCTGCAGTACTGGCCCTTCGGGGAGCTGCTCTGCAAGCTGGTGCTGGCCGTCGACCACTACAACATCTTCTCCAGCATCTACTTCCTAGCCGTGATGAGCGTG
GACCGATACCTGGTGGTGCTGGCCACCGTGAGGTCCCGCCACATGCCCTGGCGCACCTACCGGGGGGCGAAGGTCGCCAGCCTGTGTGTCTGGCTGGGCGTCACG
GTCCTGGTTCTGCCCTTCTTCTCTTTCGCTGGCGTCTACAGCAACGAGCTGCAGGTCCCAAGCTGTGGGCTGAGCTTCCCGTGGCCCGAGCAGGTCTGGTTCAAG
GCCAGCCGTGTCTACACGTTGGTCCTGGGCTTCGTGCTGCCCGTGTGCACCATCTGTGTGCTCTACACAGACCTCCTGCGCAGGCTGCGGGCCGTGCGGCTCCGC
TCTGGAGCCAAGGCTCTAGGCAAGGCCAGGCGGAAGGTGACCGTCCTGGTCCTCGTCGTGCTGGCCGTGTGCCTCCTCTGCTGGACGCCCTTCCACCTGGCCTCT
GTCGTGGCCCTGACCACGGACCTGCCCCAGACCCCACTGGTCATCAGTATGTCCTACGTCATCACCAGCCTCAGCTACGCCAACTCGTGCCTGAACCCCTTCCTC
TACGCCTTTCTAGATGACAACTTCCGGAAGAACTTCCGCAGCATATTGCGGTGCTGA

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>NPBWR2|2832|protein
MQAAGHPEPLDSRGSFSLPTMGANVSQDNGTGHNATFSEPLPFLYVLLPAVYSGICAVGLTGNTAVILVILRAPKMKTVTNVFILNLAVADGLFTLVLPVNIAEH
LLQYWPFGELLCKLVLAVDHYNIFSSIYFLAVMSVDRYLVVLATVRSRHMPWRTYRGAKVASLCVWLGVTVLVLPFFSFAGVYSNELQVPSCGLSFPWPEQVWFK
ASRVYTLVLGFVLPVCTICVLYTDLLRRLRAVRLRSGAKALGKARRKVTVLVLVVLAVCLLCWTPFHLASVVALTTDLPQTPLVISMSYVITSLSYANSCLNPFL
YAFLDDNFRKNFRSILRC

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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 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top