AutismKB 2.0

Evidence Details for RGSL1


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Basic Information Top
Gene Symbol:RGSL1 ( DKFZp434E169,RGSL,RGSL2 )
Gene Full Name: regulator of G-protein signaling like 1
Band: 1q25.3
Quick LinksEntrez ID:353299; OMIM: 611012; Uniprot ID:RGSL_HUMAN; ENSEMBL ID: ; HGNC ID: 18636
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RGSL1|353299|nucleotide
ATGAGCAGTGCTGAGATAATTGGTTCTACAAATCTTATAATTCTGCTAGAGGATGAAGTCTTTGCCGATTTTTTCAACACATTTCTTTCCCTCCCGGTTTTTGGT
CAGACACCATTTTATACTGTTGAAAATTCACAGTGGAGCTTGTGGCCAGAAATACCTTGTAACTTGATTGCCAAATACAAAGGGTTATTGACCTGGTTGGAAAAA
TGCCGATTACCTTTCTTCTGTAAAACAAACTTGTGTTTCCATTACATTCTCTGTCAGGAGTTCATCAGTTTCATTAAGTCCCCAGAAGGAGGTGAAGAATTGGTG
GATTTCTGGATCCTTGCTGAGAACATCCTGAGCATAGATGAGATGGACCTGGAAGTGAGAGACTACTACCTGTCCCTCCTCCTCATGCTGAGGGCCACTCATCTG
CAGGAGGGCTCCAGGGTGGTAACCCTCTGTAACATGAACATCAAGTCCCTCCTGAACCTCTCCATCTGGCATCCCAACCAATCAACCACTAGGAGGGAGATCCTG
AGCCACATGCAGAAAGTGGCTCTGTTCAAACTCCAGAGCTATTGGCTTCCCAACTTTTACACCCACACCAAGATGACCATGGCCAAGGAGGAAGCATGCCATGGT
CTGATGCAAGAGTACGAGACTCGCTTATACAGCGTTTGCTACACCCACATAGGAGGGCTCCCTCTGAACATGAGCATCAAGAAGTGCCACCACTTTCAGAAACGG
TACTCAAGCAGGAAAGCCAAGAGGAAGATGTGGCAATTGGTAGATCCTGACTCTTGGTCTCTGGAAATGGATCTCAAGCCAGATGCTATTGGTATGCCCCTACAG
GAGACATGTCCTCAAGAGAAGGTGGTTATACAAATGCCTTCCCTGAAAATGGCTTCTTCAAAGGAAACAAGAATCAGTTCCCTGGAAAAGGATATGCATTATGCA
AAAATATCCAGCATGGAGAATAAAGCCAAGAGCCACCTCCACATGGAAGCCCCCTTTGAGACAAAGGTCTCTACCCACCTGAGGACTGTCATCCCCATTGTCAAT
CACTCCTCCAAGATGACAATTCAGAAGGCCATCAAGCAAAGCTTCTCCTTAGGATACATCCACTTGGCCTTGTGTGCTGATGCCTGTGCAGGGAACCCTTTCCGG
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>RGSL1|353299|protein
MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELV
DFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHG
LMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYA
KISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNG
NAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKR
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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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top