Evidence Details for QTRTD1


Gene Symbol: | QTRTD1 ( FLJ12960 ) |
---|---|
Gene Full Name: | queuine tRNA-ribosyltransferase domain containing 1 |
Band: | 3q13.31 |
Quick Links | Entrez ID:79691; OMIM: NA; Uniprot ID:QTRD1_HUMAN; ENSEMBL ID: ENSG00000151576; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |


>QTRTD1|79691|nucleotide
ATGAAGCTGAGTCTTACCAAGGTAGTTAATGGCTGTCGCCTAGGAAAAATAAAAAACCTGGGCAAAACAGGGGACCACACCATGGATATTCCAGGCTGCCTTCTG
TATACCAAGACTGGCTCCGCCCCACACCTCACCCATCACACGCTGCATAATATCCACGGGGTTCCTGCCATGGCTCAGCTTACGCTGTCATCCCTAGCAGAACAT
CATGAAGTCTTGACAGAATATAAAGAAGGAGTTGGAAAGTTTATAGGCATGCCAGAATCACTCTTGTACTGCTCCCTGCACGATCCAGTCAGCCCCTGCCCGGCT
GGTTATGTAACAAACAAGTCTGTGTCTGTGTGGAGTGTTGCAGGACGAGTGGAAATGACTGTTTCCAAGTTCATGGCAATTCAGAAGGCCCTTCAGCCAGACTGG
TTCCAGTGCCTCTCCGATGGAGAAGTATCTTGTAAGGAAGCAACTTCCATAAAAAGGGTCAGAAAGTCTGTTGACCGATCACTTCTTTTCTTGGATAACTGTCTG
CGGCTGCAGGAAGAGTCAGAGGTTCTTCAGAAGAGTGTGATCATTGGAGTGATTGAAGGTGGAGATGTGATGGAAGAGAGGCTGAGGTCAGCACGAGAGACAGCC
AAGCGGCCTGTGGGTGGCTTCCTTCTGGATGGTTTTCAAGGAAATCCAACAACCCTGGAGGCTAGACTACGCTTGCTGTCATCAGTCACTGCAGAGCTGCCGGAG
GACAAGCCAAGGCTCATATCTGGTGTTAGTCGGCCAGATGAGGTGCTCGAGTGTATTGAAAGAGGAGTGGACTTATTTGAGAGTTTTTTCCCTTATCAAGTAACA
GAGCGGGGATGTGCCCTGACTTTCAGTTTTGATTACCAGCCGAATCCTGAAGAGACACTACTACAACAAAATGGAACACAAGAAGAAATAAAATGTATGGATCAA
ATAAAGAAAATTGAAACAACTGGTTGCAACCAAGAAATAACATCATTTGAAATTAATCTGAAGGAAAAAAAGTACCAGGAGGACTTTAACCCGCTGGTGAGAGGA
TGTTCCTGTTACTGCTGTAAGAATCACACTCGGGCATACATCCACCATCTGCTGGTGACCAATGAGCTGCTGGCCGGAGTCCTGCTTATGATGCACAACTTTGAA
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ATGAAGCTGAGTCTTACCAAGGTAGTTAATGGCTGTCGCCTAGGAAAAATAAAAAACCTGGGCAAAACAGGGGACCACACCATGGATATTCCAGGCTGCCTTCTG
TATACCAAGACTGGCTCCGCCCCACACCTCACCCATCACACGCTGCATAATATCCACGGGGTTCCTGCCATGGCTCAGCTTACGCTGTCATCCCTAGCAGAACAT
CATGAAGTCTTGACAGAATATAAAGAAGGAGTTGGAAAGTTTATAGGCATGCCAGAATCACTCTTGTACTGCTCCCTGCACGATCCAGTCAGCCCCTGCCCGGCT
GGTTATGTAACAAACAAGTCTGTGTCTGTGTGGAGTGTTGCAGGACGAGTGGAAATGACTGTTTCCAAGTTCATGGCAATTCAGAAGGCCCTTCAGCCAGACTGG
TTCCAGTGCCTCTCCGATGGAGAAGTATCTTGTAAGGAAGCAACTTCCATAAAAAGGGTCAGAAAGTCTGTTGACCGATCACTTCTTTTCTTGGATAACTGTCTG
CGGCTGCAGGAAGAGTCAGAGGTTCTTCAGAAGAGTGTGATCATTGGAGTGATTGAAGGTGGAGATGTGATGGAAGAGAGGCTGAGGTCAGCACGAGAGACAGCC
AAGCGGCCTGTGGGTGGCTTCCTTCTGGATGGTTTTCAAGGAAATCCAACAACCCTGGAGGCTAGACTACGCTTGCTGTCATCAGTCACTGCAGAGCTGCCGGAG
GACAAGCCAAGGCTCATATCTGGTGTTAGTCGGCCAGATGAGGTGCTCGAGTGTATTGAAAGAGGAGTGGACTTATTTGAGAGTTTTTTCCCTTATCAAGTAACA
GAGCGGGGATGTGCCCTGACTTTCAGTTTTGATTACCAGCCGAATCCTGAAGAGACACTACTACAACAAAATGGAACACAAGAAGAAATAAAATGTATGGATCAA
ATAAAGAAAATTGAAACAACTGGTTGCAACCAAGAAATAACATCATTTGAAATTAATCTGAAGGAAAAAAAGTACCAGGAGGACTTTAACCCGCTGGTGAGAGGA
TGTTCCTGTTACTGCTGTAAGAATCACACTCGGGCATACATCCACCATCTGCTGGTGACCAATGAGCTGCTGGCCGGAGTCCTGCTTATGATGCACAACTTTGAA
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>QTRTD1|79691|protein
MKLSLTKVVNGCRLGKIKNLGKTGDHTMDIPGCLLYTKTGSAPHLTHHTLHNIHGVPAMAQLTLSSLAEHHEVLTEYKEGVGKFIGMPESLLYCSLHDPVSPCPA
GYVTNKSVSVWSVAGRVEMTVSKFMAIQKALQPDWFQCLSDGEVSCKEATSIKRVRKSVDRSLLFLDNCLRLQEESEVLQKSVIIGVIEGGDVMEERLRSARETA
KRPVGGFLLDGFQGNPTTLEARLRLLSSVTAELPEDKPRLISGVSRPDEVLECIERGVDLFESFFPYQVTERGCALTFSFDYQPNPEETLLQQNGTQEEIKCMDQ
IKKIETTGCNQEITSFEINLKEKKYQEDFNPLVRGCSCYCCKNHTRAYIHHLLVTNELLAGVLLMMHNFEHYFGFFHYIREALKSDKLAQLKELIHRQAS
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MKLSLTKVVNGCRLGKIKNLGKTGDHTMDIPGCLLYTKTGSAPHLTHHTLHNIHGVPAMAQLTLSSLAEHHEVLTEYKEGVGKFIGMPESLLYCSLHDPVSPCPA
GYVTNKSVSVWSVAGRVEMTVSKFMAIQKALQPDWFQCLSDGEVSCKEATSIKRVRKSVDRSLLFLDNCLRLQEESEVLQKSVIIGVIEGGDVMEERLRSARETA
KRPVGGFLLDGFQGNPTTLEARLRLLSSVTAELPEDKPRLISGVSRPDEVLECIERGVDLFESFFPYQVTERGCALTFSFDYQPNPEETLLQQNGTQEEIKCMDQ
IKKIETTGCNQEITSFEINLKEKKYQEDFNPLVRGCSCYCCKNHTRAYIHHLLVTNELLAGVLLMMHNFEHYFGFFHYIREALKSDKLAQLKELIHRQAS
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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) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (3) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Fan Y, 2016 | China | CMA | - | - | autism | - | - | - | - | 3 | - | 3 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ![]() | ![]() | ASD | 1 | - | 1 | - | 7 | 22 | 29 |






Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |






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