AutismKB 2.0

Evidence Details for GPRIN3


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Basic Information Top
Gene Symbol:GPRIN3 ( FLJ42625,GRIN3 )
Gene Full Name: GPRIN family member 3
Band: 4q22.1
Quick LinksEntrez ID:285513; OMIM: 611241; Uniprot ID:GRIN3_HUMAN; ENSEMBL ID: ENSG00000185477; HGNC ID: 27733
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPRIN3|285513|nucleotide
ATGGGGACTGTACCTGACCCTCTGAGATCAGCTAAAACTTCCCTGATTGCAGCTTCCGGAAAAGAAGACGATCTAGGAGAGCCACAGGCTGCCTCACCTCGGCAT
CGACCAGCTCTCCTGTGTAAGAATGCCAATGGCTTTTCAGGTGCCCCTGCAGAACCAGACCTCAGCCCCAGGGCAGCTGCCGAAGCCCTGATGCAGGTTTGTGAG
CATGAGACCACCCAACCAGATATGTCTTCTCCTGGTGTGTTCAATGAAGTGCAGAAAGCACCTGCCACATTCAACTCTCCCGGCAATCCCCAGCTGCCAGGGAGC
AGCCAGCCCGCAGCATCAGCCCCGAGTTCTGCAGCAGGAAGGGATCTTATACACACACCATTGACAATGCCCGCCAATCAGCACACCTGCCAGTCCATCCCAGGT
GATCAGCCCAATGCCATCACCTCATCCATGCCTGAAGATTCCCTGATGAGATCACAGAGAACCTCAAATAGAGAGCAACCTGAGAAACCAAGTTGTCCTGTGGGA
GGCGTCCTCAGTAGCAGCAAAGATCAGGTGTCCTGTGAGTTTCCTTCTCCAGAAACAATCCAGGGAACAGTGCAGACTCCAGTGACAGCAGCCAGGGTGGTCAGT
CACTCATCCTCTCCTGTAGGTGGACCTGAAGGGGAAAGGCAGGGAGCCATCTGTGACTCTGAAATGAGGTCCTGTAAACCTCTAACTAGAGAATCTGGATGTTCA
GAGAACAAGCAGCCCTCTGTCACTGCCTCGGGCCCCCAAGGCACAACTTCTGTGACACCTCAACCAACCCCCCTCACTAGCGAACCTTCGGCATGTCCCCCAGGT
CCAGAGAAGGTGCCGCTGCCAGCACAGCGTCAGATGTCAAGGTTCAAAGAAGCCAGTACGATGACCAACCAAGCTGAAAGTGAAATCAAGGAAGTTCCCAGCAGG
GCTTGGCAAGATGCGGAGGTGCAGGCAGTGGCGAGTGTCGAGAGCAGATCCGTCTCCACCAGCCCCAGTATCCTCACTGCATTTCTGAAGGAAAGCCGTGCTCCT
GAGCATTTTGAACAAGAGCAGCTGCGTGTCATTTGCCACAGCAGTGGGAGCCACACACTGGAGCTCTCTGACAGCACGCTAGCCCCCCAGGAGTCCAGCCAGTGC
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>GPRIN3|285513|protein
MGTVPDPLRSAKTSLIAASGKEDDLGEPQAASPRHRPALLCKNANGFSGAPAEPDLSPRAAAEALMQVCEHETTQPDMSSPGVFNEVQKAPATFNSPGNPQLPGS
SQPAASAPSSAAGRDLIHTPLTMPANQHTCQSIPGDQPNAITSSMPEDSLMRSQRTSNREQPEKPSCPVGGVLSSSKDQVSCEFPSPETIQGTVQTPVTAARVVS
HSSSPVGGPEGERQGAICDSEMRSCKPLTRESGCSENKQPSVTASGPQGTTSVTPQPTPLTSEPSACPPGPEKVPLPAQRQMSRFKEASTMTNQAESEIKEVPSR
AWQDAEVQAVASVESRSVSTSPSILTAFLKESRAPEHFEQEQLRVICHSSGSHTLELSDSTLAPQESSQCPGIMPQVHIQAAAAESTAFQRENKLASLPGGVLKT
SSINLVSSNAQHTCKEDGRLAGMTPVREESTAKKLAGTNSSSLKATAIDQISISACSQAETSYGLGKFETRPSEFAEKTTNGHKTDPDCKLSDSCGSISKADHSG
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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 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top