Evidence Details for RICTOR
Basic Information Top
Gene Symbol: | RICTOR ( DKFZp686B11164,KIAA1999,MGC39830,PIA,mAVO3 ) |
---|---|
Gene Full Name: | RPTOR independent companion of MTOR, complex 2 |
Band: | 5p13.1 |
Quick Links | Entrez ID:253260; OMIM: 609022; Uniprot ID:RICTR_HUMAN; ENSEMBL ID: ENSG00000164327; HGNC ID: 28611 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RICTOR|253260|nucleotide
ATGGCGGCGATCGGCCGCGGCCGCTCTCTGAAGAACCTCCGAGTACGAGGGCGGAATGACAGCGGCGAGGAGAACGTCCCGCTGGATCTGACCCGAGAACCTTCT
GATAACTTAAGAGAGATTCTCCAAAATGTGGCCAGATTGCAGGGAGTATCAAATATGAGAAAGCTAGGCCATCTGAATAACTTTACTAAGCTTCTTTGTGATATT
GGCCACAGTGAAGAAAAACTGGGCTTTCACTATGAGGATATCATAATTTGTTTGCGGTTAGCTTTATTAAATGAAGCAAAAGAAGTGCGAGCAGCAGGGCTACGA
GCGCTTCGATATCTCATCCAAGACTCCAGTATTCTCCAGAAGGTGCTAAAATTGAAAGTGGACTATTTAATAGCTAGGTGCATTGACATACAACAGAGCAACGAG
GTAGAGAGGACACAAGCACTTCGATTAGTCAGAAAGATGATTACTGTGAATGCTTCCTTGTTTCCTAGTTCTGTGACCAACTCATTAATTGCAGTTGGAAATGAT
GGACTTCAAGAAAGAGACAGAATGGTCCGAGCATGCATTGCCATTATCTGTGAACTAGCACTTCAGAATCCAGAGGTGGTGGCCCTTCGAGGTGGACTAAACACC
ATCTTGAAAAATGTGATCGATTGCCAATTAAGTCGAATAAATGAGGCCCTAATTACTACAATTTTGCACCTTCTTAATCATCCAAAGACTCGACAGTATGTGCGA
GCTGATGTAGAATTAGAGAGAATTTTAGCACCCTATACTGATTTTCACTACAGACATAGTCCAGATACAGCTGAAGGACAGCTCAAAGAAGACAGAGAAGCACGA
TTTCTAGCCAGTAAAATGGGAATCATAGCAACATTCCGATCATGGGCAGGTATTATTAATTTATGTAAACCTGGAAATTCTGGGATCCAGTCTCTAATAGGAGTA
CTTTGCATACCAAATATGGAAATAAGGCGAGGTCTACTTGAAGTGCTTTATGATATATTTCGTCTTCCTCTACCTGTTGTGACTGAGGAGTTCATAGAAGCACTA
CTCAGTGTAGATCCAGGGAGGTTCCAAGACAGTTGGAGGCTTTCAGATGGCTTTGTGGCAGCTGAGGCAAAAACTATTCTTCCTCATCGTGCCAGATCCAGGCCA
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ATGGCGGCGATCGGCCGCGGCCGCTCTCTGAAGAACCTCCGAGTACGAGGGCGGAATGACAGCGGCGAGGAGAACGTCCCGCTGGATCTGACCCGAGAACCTTCT
GATAACTTAAGAGAGATTCTCCAAAATGTGGCCAGATTGCAGGGAGTATCAAATATGAGAAAGCTAGGCCATCTGAATAACTTTACTAAGCTTCTTTGTGATATT
GGCCACAGTGAAGAAAAACTGGGCTTTCACTATGAGGATATCATAATTTGTTTGCGGTTAGCTTTATTAAATGAAGCAAAAGAAGTGCGAGCAGCAGGGCTACGA
GCGCTTCGATATCTCATCCAAGACTCCAGTATTCTCCAGAAGGTGCTAAAATTGAAAGTGGACTATTTAATAGCTAGGTGCATTGACATACAACAGAGCAACGAG
GTAGAGAGGACACAAGCACTTCGATTAGTCAGAAAGATGATTACTGTGAATGCTTCCTTGTTTCCTAGTTCTGTGACCAACTCATTAATTGCAGTTGGAAATGAT
GGACTTCAAGAAAGAGACAGAATGGTCCGAGCATGCATTGCCATTATCTGTGAACTAGCACTTCAGAATCCAGAGGTGGTGGCCCTTCGAGGTGGACTAAACACC
ATCTTGAAAAATGTGATCGATTGCCAATTAAGTCGAATAAATGAGGCCCTAATTACTACAATTTTGCACCTTCTTAATCATCCAAAGACTCGACAGTATGTGCGA
GCTGATGTAGAATTAGAGAGAATTTTAGCACCCTATACTGATTTTCACTACAGACATAGTCCAGATACAGCTGAAGGACAGCTCAAAGAAGACAGAGAAGCACGA
TTTCTAGCCAGTAAAATGGGAATCATAGCAACATTCCGATCATGGGCAGGTATTATTAATTTATGTAAACCTGGAAATTCTGGGATCCAGTCTCTAATAGGAGTA
CTTTGCATACCAAATATGGAAATAAGGCGAGGTCTACTTGAAGTGCTTTATGATATATTTCGTCTTCCTCTACCTGTTGTGACTGAGGAGTTCATAGAAGCACTA
CTCAGTGTAGATCCAGGGAGGTTCCAAGACAGTTGGAGGCTTTCAGATGGCTTTGTGGCAGCTGAGGCAAAAACTATTCTTCCTCATCGTGCCAGATCCAGGCCA
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>RICTOR|253260|protein
MAAIGRGRSLKNLRVRGRNDSGEENVPLDLTREPSDNLREILQNVARLQGVSNMRKLGHLNNFTKLLCDIGHSEEKLGFHYEDIIICLRLALLNEAKEVRAAGLR
ALRYLIQDSSILQKVLKLKVDYLIARCIDIQQSNEVERTQALRLVRKMITVNASLFPSSVTNSLIAVGNDGLQERDRMVRACIAIICELALQNPEVVALRGGLNT
ILKNVIDCQLSRINEALITTILHLLNHPKTRQYVRADVELERILAPYTDFHYRHSPDTAEGQLKEDREARFLASKMGIIATFRSWAGIINLCKPGNSGIQSLIGV
LCIPNMEIRRGLLEVLYDIFRLPLPVVTEEFIEALLSVDPGRFQDSWRLSDGFVAAEAKTILPHRARSRPDLMDNYLALILSAFIRNGLLEGLVEVITNSDDHIS
VRATILLGELLHMANTILPHSHSHHLHCLPTLMNMAASFDIPKEKRLRASAALNCLKRFHEMKKRGPKPYSLHLDHIIQKAIATHQKRDQYLRVQKDIFILKDTE
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MAAIGRGRSLKNLRVRGRNDSGEENVPLDLTREPSDNLREILQNVARLQGVSNMRKLGHLNNFTKLLCDIGHSEEKLGFHYEDIIICLRLALLNEAKEVRAAGLR
ALRYLIQDSSILQKVLKLKVDYLIARCIDIQQSNEVERTQALRLVRKMITVNASLFPSSVTNSLIAVGNDGLQERDRMVRACIAIICELALQNPEVVALRGGLNT
ILKNVIDCQLSRINEALITTILHLLNHPKTRQYVRADVELERILAPYTDFHYRHSPDTAEGQLKEDREARFLASKMGIIATFRSWAGIINLCKPGNSGIQSLIGV
LCIPNMEIRRGLLEVLYDIFRLPLPVVTEEFIEALLSVDPGRFQDSWRLSDGFVAAEAKTILPHRARSRPDLMDNYLALILSAFIRNGLLEGLVEVITNSDDHIS
VRATILLGELLHMANTILPHSHSHHLHCLPTLMNMAASFDIPKEKRLRASAALNCLKRFHEMKKRGPKPYSLHLDHIIQKAIATHQKRDQYLRVQKDIFILKDTE
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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) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 5 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Yonan, 2003 | USA | microsatellite-based genomic screen | PDD | 345 | - | 345 | - | - | - | - | ||
Liu, 2001 | USA | microsatellite-based genomic screen | autism, ASD | 110 | - | 110 | - | - | - | - | ||
Buxbaum, 2004 | USA | microsatellite-based genomic screen | autism | 115 | - | 115 | - | - | - | - | ||
Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | ASD | 314 | - | 314 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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