AutismKB 2.0

Evidence Details for GPRIN2


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Basic Information Top
Gene Symbol:GPRIN2 ( GRIN2,KIAA0514,MGC15171 )
Gene Full Name: G protein regulated inducer of neurite outgrowth 2
Band: 10q11.22
Quick LinksEntrez ID:9721; OMIM: 611240; Uniprot ID:GRIN2_HUMAN; ENSEMBL ID: ENSG00000204175; HGNC ID: 23730
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPRIN2|9721|nucleotide
ATGAGCTCCAGCCGCCCCGAGCCGGGTCCCTGGGCACCCCTGAGCCCCCGCCTTCAGCCCCTGTCCCAGAGCTCTTCCAGCCTGCTGGGTGAAGGCCGGGAACAG
AGGCCAGAGCTCCGCAAGACTGCCAGCAGCACCGTGTGGCAGGCCCAGCTGGGCGAGGCCAGCACCAGACCCCAGGCCCCGGAGGAAGAGGGGAACCCGCCTGAG
AGCATGAAGCCAGCACGGGCCTCTGGCCCCAAGGCGCGACCCAGTGCTGGAGGCCACTGGTGGAGCAGCACTGTGGGCAATGTGTCCACCATGGGCGGCAGTGAC
CTGTGTCGCCTGCGGGCCCCTAGTGCTGCTGCTATGCAGAGGAGCCATTCAGACCTGGTCCGTAGCACCCAGATGCGGGGACACAGTGGTGCTCGGAAGGCCAGT
CTCAGCTGCTCAGCCCTTGGCAGCAGCCCTGTCCACAGGGCTCAGCTGCAGCCAGGTGGTACTTCTGGCCAGGGTGGCCAGGCCCCTGCAGGCCTGGAAAGGGAC
CTGGCTCCTGAGGATGAGACTTCTAACTCAGCCTGGATGCTGGGGGCGAGTCAGTTGTCAGTGCCACCACTAGACCTGGGGGACACAACTGCCCACAGCAGCAGT
GCCCAGGCTGAGCCCAAAGCTGCTGAACAGCTGGCTACCACCACCTGCCATGCTCTGCCCCCAGCTGCTCTACTCTGTGGCATGAGGGAGGTGAGGGCTGGTGGC
TGCTGCCATGCCCTACCTGCCACAGGGATCCTGGCCTTTCCCAAACTAGTGGCGTCAGTGAGCGAGTCTGGGCTGCAGGCTCAGCATGGGGTGAAGATCCACTGT
AGGTTGTCTGGGGGGCTCCCTGGGCATTCCCATTGCTGTGCCCACCTTTGGGGTCCCGCTGGGTTAGTCCCAGAGCCTGGCTCTAGGACCAAAGATGTGTGGACC
ATGACCTCAGCCAATGACTTGGCCCCTGCAGAGGCATCCCCGCTGTCAGCCCAGGATGCTGGTGTGCAGGCGGCCCCAGTGGCGGCCTGCAAGGCTGTGGCCACC
AGTCCGTCCCTGGAAGCGCCTGCAGCCCTGCATGTGTTCCCAGAGGTAACTCTGGGGTCCAGCCTGGAGGAGGTGCCGTCCCCTGTGCGGGATGTGCGATGGGAT
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>GPRIN2|9721|protein
MSSSRPEPGPWAPLSPRLQPLSQSSSSLLGEGREQRPELRKTASSTVWQAQLGEASTRPQAPEEEGNPPESMKPARASGPKARPSAGGHWWSSTVGNVSTMGGSD
LCRLRAPSAAAMQRSHSDLVRSTQMRGHSGARKASLSCSALGSSPVHRAQLQPGGTSGQGGQAPAGLERDLAPEDETSNSAWMLGASQLSVPPLDLGDTTAHSSS
AQAEPKAAEQLATTTCHALPPAALLCGMREVRAGGCCHALPATGILAFPKLVASVSESGLQAQHGVKIHCRLSGGLPGHSHCCAHLWGPAGLVPEPGSRTKDVWT
MTSANDLAPAEASPLSAQDAGVQAAPVAACKAVATSPSLEAPAALHVFPEVTLGSSLEEVPSPVRDVRWDAEGMTWEVYGAAVDLEVLGVAIQKHLEMQFEQLQR
APASEDSLSVEGRRGPLRAVMQSLRRPSCCGCSGAAPE
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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 (4) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Chilian B, 2013 Germany FISH--- - - - - 1 - 1
Soueid J, 2016 Lebanese -autistic 35 33 2 - 41 37 78
Linkage Studies Top