AutismKB 2.0

Evidence Details for RASL12


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Basic Information Top
Gene Symbol:RASL12 ( RIS )
Gene Full Name: RAS-like, family 12
Band: 15q22.31
Quick LinksEntrez ID:51285; OMIM: NA; Uniprot ID:RASLC_HUMAN; ENSEMBL ID: ENSG00000103710; HGNC ID: 30289
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASL12|51285|nucleotide
ATGTCCTCGGTGTTTGGAAAACCCCGCGCGGGCAGCGGGCCTCAGAGCGCGCCCCTCGAGGTCAACCTGGCCATCCTGGGGCGCCGCGGGGCTGGCAAGTCTGCC
CTGACCGTGAAGTTTCTGACCAAGAGGTTTATCAGTGAATATGACCCCAACTTGGAGGACACCTACAGCTCCGAGGAGACTGTGGACCACCAGCCTGTCCACCTG
AGGGTCATGGACACTGCAGACCTGGACACCCCCAGGAACTGCGAGCGCTACCTGAACTGGGCCCATGCCTTCCTGGTGGTGTACAGCGTCGACAGCCGCCAGAGC
TTTGATAGCAGCAGCAGCTACCTGGAGCTGCTTGCCTTGCACGCGAAGGAGACACAGCGCAGCATCCCTGCCCTGCTGCTGGGCAACAAGCTGGACATGGCTCAG
TACAGGCAAGTCACCAAGGCAGAGGGTGTGGCTTTGGCAGGCAGGTTTGGGTGCCTGTTTTTCGAGGTCTCTGCCTGTCTGGACTTTGAGCACGTGCAGCATGTC
TTCCACGAGGCAGTGCGAGAGGCACGGCGGGAGCTGGAGAAGAGCCCCCTGACCCGGCCCCTCTTCATCTCCGAGGAGAGGGCCCTGCCCCACCAGGCCCCGCTC
ACCGCGCGGCATGGGCTGGCCAGCTGCACCTTCAACACGCTCTCCACCATCAACCTGAAGGAGATGCCCACTGTGGCCCAGGCCAAGCTGGTCACCGTGAAGTCA
TCCCGGGCCCAGAGCAAGCGCAAGGCGCCTACCCTGACTCTCCTGAAGGGCTTCAAGATCTTCTGA



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>RASL12|51285|protein
MSSVFGKPRAGSGPQSAPLEVNLAILGRRGAGKSALTVKFLTKRFISEYDPNLEDTYSSEETVDHQPVHLRVMDTADLDTPRNCERYLNWAHAFLVVYSVDSRQS
FDSSSSYLELLALHAKETQRSIPALLLGNKLDMAQYRQVTKAEGVALAGRFGCLFFEVSACLDFEHVQHVFHEAVREARRELEKSPLTRPLFISEERALPHQAPL
TARHGLASCTFNTLSTINLKEMPTVAQAKLVTVKSSRAQSKRKAPTLTLLKGFKIF


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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top