Evidence Details for MR1
Basic Information Top
Gene Symbol: | MR1 ( FLJ31593,HLALS ) |
---|---|
Gene Full Name: | major histocompatibility complex, class I-related |
Band: | 1q25.3 |
Quick Links | Entrez 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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ATGGGGGAACTGATGGCGTTCCTGTTACCTCTCATCATTGTGTTAATGGTGAAGCACAGCGATTCCCGGACGCACTCTCTGAGATATTTTCGCCTGGGCGTTTCG
GATCCCATCCATGGGGTCCCTGAATTTATTTCGGTTGGGTACGTGGACTCGCACCCTATCACCACATATGACAGTGTCACTCGGCAGAAGGAGCCACGGGCCCCA
TGGATGGCAGAGAACCTCGCGCCTGATCACTGGGAGAGGTACACTCAGCTGCTGAGGGGCTGGCAGCAGATGTTCAAGGTGGAACTGAAGCGCCTACAGAGGCAC
TACAATCACTCAGATAATGTGGCTCACACCATCAAGCAGGCATGGGAGGCCAATCAGCATGAGTTGCTGTATCAAAAGAATTGGCTGGAAGAAGAATGTATTGCC
TGGCTAAAGAGATTCCTGGAGTATGGGAAAGACACCCTACAAAGAACAGAGCCCCCACTGGTCAGAGTAAATCGCAAAGAAACTTTTCCAGGGGTTACAGCTCTC
TTCTGCAAAGCTCATGGCTTTTACCCCCCAGAAATTTACATGACATGGATGAAAAACGGGGAAGAAATTGTCCAAGAAATTGATTATGGAGACATTCTTCCCAGT
GGGGATGGAACCTATCAGGCGTGGGCATCAATTGAGCTTGATCCTCAGAGCAGCAACCTTTACTCCTGTCATGTGGAGCACTGCGGTGTCCACATGGTTCTTCAG
GTCCCCCAGGAATCAGAAACTATCCCTCTTGTGATGAAAGCTGTCTCTGGGTCCATTGTCCTTGTCATTGTGCTGGCTGGAGTTGGTGTTCTAGTCTGGAGAAGA
AGGCCCCGAGAGCAAAATGGAGCCATCTACCTTCCAACACCAGATCGATGA
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>MR1|3140|protein
MGELMAFLLPLIIVLMVKHSDSRTHSLRYFRLGVSDPIHGVPEFISVGYVDSHPITTYDSVTRQKEPRAPWMAENLAPDHWERYTQLLRGWQQMFKVELKRLQRH
YNHSDNVAHTIKQAWEANQHELLYQKNWLEEECIAWLKRFLEYGKDTLQRTEPPLVRVNRKETFPGVTALFCKAHGFYPPEIYMTWMKNGEEIVQEIDYGDILPS
GDGTYQAWASIELDPQSSNLYSCHVEHCGVHMVLQVPQESETIPLVMKAVSGSIVLVIVLAGVGVLVWRRRPREQNGAIYLPTPDR
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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
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