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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018