AutismKB 2.0

Evidence Details for RGS3


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Basic Information Top
Gene Symbol:RGS3 ( C2PA,FLJ20370,FLJ31516,FLJ90496,PDZ-RGS3,RGP3 )
Gene Full Name: regulator of G-protein signaling 3
Band: 9q32
Quick LinksEntrez ID:5998; OMIM: 602189; Uniprot ID:RGS3_HUMAN; ENSEMBL ID: ENSG00000138835; HGNC ID: 9999
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RGS3|5998|nucleotide
ATGGAGCGCTCCCTGCACCGCGTCTCCCTCGGGAGCCGGCGTGCCCACCCGGACTTGTCCTTCTACCTCACCACCTTTGGTCAGCTGAGGCTGTCCATTGATGCC
CAGGACCGGGTTCTGCTGCTTCACATTATAGAAGGTAAAGGCCTGATCAGCAAACAGCCTGGCACCTGTGATCCGTATGTGAAGATTTCTTTGATCCCTGAAGAT
AGTAGACTACGCCACCAGAAGACGCAGACCGTTCCAGACTGCAGAGACCCGGCTTTCCACGAGCACTTCTTCTTTCCTGTCCAAGAGGAGGATGATCAGAAGCGT
CTCTTGGTTACTGTGTGGAACAGGGCCAGCCAGTCCAGACAGAGTGGACTCATTGGCTGCATGAGCTTTGGGGTGAAGTCTCTCCTGACTCCAGACAAGGAGATC
AGTGGTTGGTACTACCTCCTAGGGGAGCACCTGGGCCGGACCAAGCACTTGAAGGTGGCCAGGCGGCGACTGCGGCCGCTGAGAGACCCGCTGCTGAGAATGCCA
GGAGGTGGGGACACTGAGAATGGGAAGAAACTAAAGATCACCATCCCGAGGGGAAAGGACGGCTTTGGCTTCACCATCTGCTGCGACTCTCCAGTTCGAGTCCAG
GCCGTGGATTCCGGGGGTCCGGCGGAACGGGCAGGGCTGCAGCAGCTGGACACGGTGCTGCAGCTGAATGAGAGGCCTGTGGAGCACTGGAAATGTGTGGAGCTG
GCCCACGAGATCCGGAGCTGCCCCAGTGAGATCATCCTACTCGTGTGGCGCATGGTCCCCCAGGTCAAGCCAGGACCAGATGGCGGGGTCCTGCGGCGGGCCTCC
TGCAAGTCGACACATGACCTCCAGTCACCCCCCAACAAACGGGAGAAGAACTGCACCCATGGGGTCCAGGCACGGCCTGAGCAGCGCCACAGCTGCCACCTGGTA
TGTGACAGCTCTGATGGGCTGCTGCTCGGCGGCTGGGAGCGCTACACCGAGGTGGCCAAGCGCGGGGGCCAGCACACCCTGCCTGCACTGTCCCGTGCCACTGCC
CCCACCGACCCCAACTACATCATCCTGGCCCCGCTGAATCCTGGGAGCCAGCTGCTCCGGCCTGTGTACCAGGAGGATACCATCCCCGAAGAATCAGGGAGTCCC
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>RGS3|5998|protein
MERSLHRVSLGSRRAHPDLSFYLTTFGQLRLSIDAQDRVLLLHIIEGKGLISKQPGTCDPYVKISLIPEDSRLRHQKTQTVPDCRDPAFHEHFFFPVQEEDDQKR
LLVTVWNRASQSRQSGLIGCMSFGVKSLLTPDKEISGWYYLLGEHLGRTKHLKVARRRLRPLRDPLLRMPGGGDTENGKKLKITIPRGKDGFGFTICCDSPVRVQ
AVDSGGPAERAGLQQLDTVLQLNERPVEHWKCVELAHEIRSCPSEIILLVWRMVPQVKPGPDGGVLRRASCKSTHDLQSPPNKREKNCTHGVQARPEQRHSCHLV
CDSSDGLLLGGWERYTEVAKRGGQHTLPALSRATAPTDPNYIILAPLNPGSQLLRPVYQEDTIPEESGSPSKGKSYTGLGKKSRLMKTVQTMKGHGNYQNCPVVR
PHATHSSYGTYVTLAPKVLVFPVFVQPLDLCNPARTLLLSEELLLYEGRNKAAEVTLFAYSDLLLFTKEDEPGRCDVLRNPLYLQSVKLQEGSSEDLKFCVLYLA
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top