AutismKB 2.0

Evidence Details for RALY


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Basic Information Top
Gene Symbol:RALY ( HNRPCL2,MGC117312,P542 )
Gene Full Name: RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))
Band: 20q11.22
Quick LinksEntrez ID:22913; OMIM: NA; Uniprot ID:RALY_HUMAN; ENSEMBL ID: ENSG00000125970; HGNC ID: 15921
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RALY|22913|nucleotide
ATGTCCTTGAAGCTTCAGGCAAGCAATGTAACCAACAAGAATGACCCCAAGTCCATCAACTCTCGAGTCTTCATTGGAAACCTCAACACAGCTCTGGTGAAGAAA
TCAGATGTGGAGACCATCTTCTCTAAGTATGGCCGTGTGGCCGGCTGTTCTGTGCACAAGGGCTATGCCTTTGTTCAGTACTCCAATGAGCGCCATGCCCGGGCA
GCTGTGCTGGGAGAGAATGGGCGGGTGCTGGCCGGGCAGACCCTGGACATCAACATGGCTGGAGAGCCTAAGCCTGACAGACCCAAGGGGCTAAAGAGAGCAGCA
TCTGCCATATACAGGCTCTTCGACTACCGGGGCCGTCTGTCGCCCGTGCCAGTGCCCAGGGCGGTCCCTGTGAAGCGACCCCGGGTCACAGTCCCTTTGGTCCGG
CGTGTCAAAACTAACGTACCTGTCAAGCTCTTTGCCCGCTCCACAGCTGTCACCACCAGCTCAGCCAAGATCAAGTTAAAGAGCAGTGAGCTGCAGGCCATCAAG
ACGGAGCTGACACAGATCAAGTCCAATATCGATGCCCTGCTGAGCCGCTTGGAGCAGATCGCTGCGGAGCAAAAGGCCAATCCAGATGGCAAGAAGAAGGGTGAT
GGAGGTGGCGCCGGCGGCGGCGGCGGTGGTGGTGGCAGCGGTGGCGGTGGCAGTGGTGGTGGCGGTGGCGGTGGCAGCAGCCGGCCACCAGCCCCCCAAGAGAAC
ACAACTTCTGAGGCAGGCCTGCCCCAGGGGGAAGCACGGACCCGAGACGACGGCGATGAGGAAGGGCTCCTGACACACAGCGAGGAAGAGCTGGAACACAGCCAG
GACACAGACGCGGATGATGGGGCCTTGCAGTAA


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>RALY|22913|protein
MSLKLQASNVTNKNDPKSINSRVFIGNLNTALVKKSDVETIFSKYGRVAGCSVHKGYAFVQYSNERHARAAVLGENGRVLAGQTLDINMAGEPKPDRPKGLKRAA
SAIYRLFDYRGRLSPVPVPRAVPVKRPRVTVPLVRRVKTNVPVKLFARSTAVTTSSAKIKLKSSELQAIKTELTQIKSNIDALLSRLEQIAAEQKANPDGKKKGD
GGGAGGGGGGGGSGGGGSGGGGGGGSSRPPAPQENTTSEAGLPQGEARTRDDGDEEGLLTHSEEELEHSQDTDADDGALQ


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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 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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