AutismKB 2.0

Evidence Details for MR1


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Basic Information Top
Gene Symbol:MR1 ( FLJ31593,HLALS )
Gene Full Name: major histocompatibility complex, class I-related
Band: 1q25.3
Quick LinksEntrez ID:3140; OMIM: 600764; Uniprot ID:HMR1_HUMAN; ENSEMBL ID: ENSG00000153029; HGNC ID: 4975
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MR1|3140|nucleotide
ATGGGGGAACTGATGGCGTTCCTGTTACCTCTCATCATTGTGTTAATGGTGAAGCACAGCGATTCCCGGACGCACTCTCTGAGATATTTTCGCCTGGGCGTTTCG
GATCCCATCCATGGGGTCCCTGAATTTATTTCGGTTGGGTACGTGGACTCGCACCCTATCACCACATATGACAGTGTCACTCGGCAGAAGGAGCCACGGGCCCCA
TGGATGGCAGAGAACCTCGCGCCTGATCACTGGGAGAGGTACACTCAGCTGCTGAGGGGCTGGCAGCAGATGTTCAAGGTGGAACTGAAGCGCCTACAGAGGCAC
TACAATCACTCAGATAATGTGGCTCACACCATCAAGCAGGCATGGGAGGCCAATCAGCATGAGTTGCTGTATCAAAAGAATTGGCTGGAAGAAGAATGTATTGCC
TGGCTAAAGAGATTCCTGGAGTATGGGAAAGACACCCTACAAAGAACAGAGCCCCCACTGGTCAGAGTAAATCGCAAAGAAACTTTTCCAGGGGTTACAGCTCTC
TTCTGCAAAGCTCATGGCTTTTACCCCCCAGAAATTTACATGACATGGATGAAAAACGGGGAAGAAATTGTCCAAGAAATTGATTATGGAGACATTCTTCCCAGT
GGGGATGGAACCTATCAGGCGTGGGCATCAATTGAGCTTGATCCTCAGAGCAGCAACCTTTACTCCTGTCATGTGGAGCACTGCGGTGTCCACATGGTTCTTCAG
GTCCCCCAGGAATCAGAAACTATCCCTCTTGTGATGAAAGCTGTCTCTGGGTCCATTGTCCTTGTCATTGTGCTGGCTGGAGTTGGTGTTCTAGTCTGGAGAAGA
AGGCCCCGAGAGCAAAATGGAGCCATCTACCTTCCAACACCAGATCGATGA


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>MR1|3140|protein
MGELMAFLLPLIIVLMVKHSDSRTHSLRYFRLGVSDPIHGVPEFISVGYVDSHPITTYDSVTRQKEPRAPWMAENLAPDHWERYTQLLRGWQQMFKVELKRLQRH
YNHSDNVAHTIKQAWEANQHELLYQKNWLEEECIAWLKRFLEYGKDTLQRTEPPLVRVNRKETFPGVTALFCKAHGFYPPEIYMTWMKNGEEIVQEIDYGDILPS
GDGTYQAWASIELDPQSSNLYSCHVEHCGVHMVLQVPQESETIPLVMKAVSGSIVLVIVLAGVGVLVWRRRPREQNGAIYLPTPDR


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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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