Evidence Details for RPUSD3


Gene Symbol: | RPUSD3 ( FLJ34707,FLJ37268,MGC29784 ) |
---|---|
Gene Full Name: | RNA pseudouridylate synthase domain containing 3 |
Band: | 3p25.3 |
Quick Links | Entrez ID:285367; OMIM: NA; Uniprot ID:RUSD3_HUMAN; ENSEMBL ID: ENSG00000156990; HGNC ID: 28437 |
Relate to Another Database: | SFARIGene; denovo-db |


>RPUSD3|285367|nucleotide
ATGCGCGCTGTCCTGGCTCGGGAGATGGACGGCCGCCGTGTTTTGGGCCGGTTCTGGAGTGGCTGGCGGCGGGGCCTGGGTGTCCGCCCAGTGCCCGAGGACGCA
GGCTTTGGCACCGAAGCCCGGCATCAGAGGCAACCCCGCGGCTCCTGCCAACGGTCGGGGCCCCTCGGGGACCAGCCCTTCGCGGGGCTGCTGCCAAAAAACCTC
AGTCGGGAGGAGCTGGTTGATGCGCTGCGGGCAGCCGTGGTGGACCGGAAAGGAAAACCAGGAGAGCTGACGTTGTTCTCAGTGCTGCCAGAGCTGAGCCAGTCC
CTAGGGCTCAGGGAGCAGGAGCTTCAGGTTGTCCGAGCATCTGGGAAAGAAAGCTCTGGGCTTGTACTCCTCTCCAGCTGTCCCCAGACAGCTAGTCGCCTCCAG
AAGTACTTCACCCATGCACGGAGAGCCCAAAGGCCCACAGCCACCTACTGTGCTGTCACTGATGGGATCCCAGCTGCTTCTGAGGGGAAGATCCAGGCTGCCCTG
AAACTGGAACACATTGATGGGGTCAATCTCACAGTTCCAGTGAAGGCCCCATCCCGAAAGGACATCCTGGAAGGTGTCAAGAAGACTCTCAGTCACTTTCGTGTG
GTAGCCACAGGCTCTGGCTGTGCCCTGGTCCAGCTGCAGCCACTGACAGTGTTCTCCAGTCAACTACAGGTGCACATGGTACTACAGCTCTGCCCTGTGCTTGGG
GACCACATGTACTCTGCCCGTGTGGGCACTGTCCTGGGCCAGCGATTTCTGCTGCCAGCTGAGAACAACAAGCCCCAAAGACAGGTCCTGGATGAAGCCCTCCTC
AGACGCCTCCACCTGACCCCCTCCCAGGCTGCCCAGCTGCCCTTGCACCTCCACCTACATCGGCTCCTTCTCCCAGGCACCAGGGCCAGGGACACCCCTGTTGAG
CTCCTGGCACCACTGCCCCCTTATTTCTCCAGGACCCTACAGTGCCTGGGGCTCCGCTTACAATAG
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ATGCGCGCTGTCCTGGCTCGGGAGATGGACGGCCGCCGTGTTTTGGGCCGGTTCTGGAGTGGCTGGCGGCGGGGCCTGGGTGTCCGCCCAGTGCCCGAGGACGCA
GGCTTTGGCACCGAAGCCCGGCATCAGAGGCAACCCCGCGGCTCCTGCCAACGGTCGGGGCCCCTCGGGGACCAGCCCTTCGCGGGGCTGCTGCCAAAAAACCTC
AGTCGGGAGGAGCTGGTTGATGCGCTGCGGGCAGCCGTGGTGGACCGGAAAGGAAAACCAGGAGAGCTGACGTTGTTCTCAGTGCTGCCAGAGCTGAGCCAGTCC
CTAGGGCTCAGGGAGCAGGAGCTTCAGGTTGTCCGAGCATCTGGGAAAGAAAGCTCTGGGCTTGTACTCCTCTCCAGCTGTCCCCAGACAGCTAGTCGCCTCCAG
AAGTACTTCACCCATGCACGGAGAGCCCAAAGGCCCACAGCCACCTACTGTGCTGTCACTGATGGGATCCCAGCTGCTTCTGAGGGGAAGATCCAGGCTGCCCTG
AAACTGGAACACATTGATGGGGTCAATCTCACAGTTCCAGTGAAGGCCCCATCCCGAAAGGACATCCTGGAAGGTGTCAAGAAGACTCTCAGTCACTTTCGTGTG
GTAGCCACAGGCTCTGGCTGTGCCCTGGTCCAGCTGCAGCCACTGACAGTGTTCTCCAGTCAACTACAGGTGCACATGGTACTACAGCTCTGCCCTGTGCTTGGG
GACCACATGTACTCTGCCCGTGTGGGCACTGTCCTGGGCCAGCGATTTCTGCTGCCAGCTGAGAACAACAAGCCCCAAAGACAGGTCCTGGATGAAGCCCTCCTC
AGACGCCTCCACCTGACCCCCTCCCAGGCTGCCCAGCTGCCCTTGCACCTCCACCTACATCGGCTCCTTCTCCCAGGCACCAGGGCCAGGGACACCCCTGTTGAG
CTCCTGGCACCACTGCCCCCTTATTTCTCCAGGACCCTACAGTGCCTGGGGCTCCGCTTACAATAG
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>RPUSD3|285367|protein
MRAVLAREMDGRRVLGRFWSGWRRGLGVRPVPEDAGFGTEARHQRQPRGSCQRSGPLGDQPFAGLLPKNLSREELVDALRAAVVDRKGKPGELTLFSVLPELSQS
LGLREQELQVVRASGKESSGLVLLSSCPQTASRLQKYFTHARRAQRPTATYCAVTDGIPAASEGKIQAALKLEHIDGVNLTVPVKAPSRKDILEGVKKTLSHFRV
VATGSGCALVQLQPLTVFSSQLQVHMVLQLCPVLGDHMYSARVGTVLGQRFLLPAENNKPQRQVLDEALLRRLHLTPSQAAQLPLHLHLHRLLLPGTRARDTPVE
LLAPLPPYFSRTLQCLGLRLQ
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MRAVLAREMDGRRVLGRFWSGWRRGLGVRPVPEDAGFGTEARHQRQPRGSCQRSGPLGDQPFAGLLPKNLSREELVDALRAAVVDRKGKPGELTLFSVLPELSQS
LGLREQELQVVRASGKESSGLVLLSSCPQTASRLQKYFTHARRAQRPTATYCAVTDGIPAASEGKIQAALKLEHIDGVNLTVPVKAPSRKDILEGVKKTLSHFRV
VATGSGCALVQLQPLTVFSSQLQVHMVLQLCPVLGDHMYSARVGTVLGQRFLLPAENNKPQRQVLDEALLRRLHLTPSQAAQLPLHLHLHRLLLPGTRARDTPVE
LLAPLPPYFSRTLQCLGLRLQ
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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 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bremer, 2011 | - | aCGH | ![]() | ![]() | ASD | - | - | - | - | 223 | - | 223 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
McCauley, 2005 | - | microsatellite-based genomic screen | ![]() | ![]() | autism | 158 | - | 158 | - | 333 | - | - |
Shao, 2002 | USA | microsatellite-based genomic screen | ![]() | ![]() | autism | 52 | - | 52 | - | 112 | - | - |
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | ![]() | ![]() | autism | - | - | - | - | 12 | 44 | 56 |












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