AutismKB 2.0

Evidence Details for DUS1L


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Basic Information Top
Gene Symbol:DUS1L ( DUS1,PP3111 )
Gene Full Name: dihydrouridine synthase 1-like (S. cerevisiae)
Band: 17q25.3
Quick LinksEntrez ID:64118; OMIM: NA; Uniprot ID:DUS1L_HUMAN; ENSEMBL ID: ENSG00000169718; HGNC ID: 30086
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DUS1L|64118|nucleotide
ATGCCAAAGCTGCAGGGCTTCGAGTTCTGGAGCCGCACCCTGCGAGGGGCCCGCCACGTCGTGGCCCCCATGGTGGACCAGAGCGAGCTGGCCTGGAGGCTGCTG
AGCCGGCGCCACGGGGCACAGCTCTGCTACACGCCCATGCTGCATGCCCAGGTCTTTGTCCGCGACGCCAACTACCGGAAGGAGAACCTGTACTGCGAGGTGTGC
CCCGAGGACCGGCCCCTCATCGTGCAGTTCTGTGCCAATGACCCGGAGGTGTTTGTTCAGGCGGCTCTCCTGGCTCAGGATTACTGTGACGCCATTGACCTGAAC
TTGGGCTGCCCACAGATGATAGCCAAGAGAGGTCACTATGGCGCCTTTCTGCAGGACGAGTGGGACCTGCTCCAAAGAATGATTTTGCTGGCCCACGAGAAACTC
TCTGTTCCTGTCACGTGCAAAATCCGTGTCTTCCCGGAGATTGACAAGACCGTGAGGTACGCCCAGATGCTGGAGAAGGCCGGCTGCCAGTTGCTGACGGTGCAC
GGACGCACCAAGGAGCAGAAGGGGCCCCTGTCGGGTGCAGCGTCCTGGGAGCATATCAAGGCTGTGCGGAAGGCTGTGGCCATCCCTGTGTTTGCTAACGGGAAC
ATCCAGTGCCTGCAGGACGTGGAGCGCTGCCTCCGGGACACGGGTGTGCAGGGCGTCATGAGCGCAGAGGGCAACCTGCACAACCCCGCCCTGTTCGAGGGCCGG
AGCCCTGCCGTGTGGGAGCTGGCCGAGGAGTATCTGGACATCGTGCGGGAGCACCCCTGCCCCCTGTCCTACGTCCGGGCCCACCTCTTCAAGCTGTGGCACCAC
ACGCTGCAGGTGCACCAGGAGCTGCGAGAGGAGCTGGCCAAGGTGAAGACCCTGGAGGGCATCGCTGCTGTGAGCCAGGAGCTGAAGCTGCGGTGTCAGGAGGAG
ATATCCAGGCAGGAGGGAGCGAAGCCCACCGGCGACTTGCCCTTCCACTGGATCTGCCAGCCCTACATCCGGCCGGGGCCCAGGGAGGGGAGCAAGGAGAAGGCA
GGTGCGCGCAGCAAGCGGGCCCTGGAGGAAGAGGAGGGTGGCACGGAGGTCCTGTCCAAGAACAAGCAAAAGAAGCAGCTGAGGAACCCCCACAAGACCTTCGAC
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>DUS1L|64118|protein
MPKLQGFEFWSRTLRGARHVVAPMVDQSELAWRLLSRRHGAQLCYTPMLHAQVFVRDANYRKENLYCEVCPEDRPLIVQFCANDPEVFVQAALLAQDYCDAIDLN
LGCPQMIAKRGHYGAFLQDEWDLLQRMILLAHEKLSVPVTCKIRVFPEIDKTVRYAQMLEKAGCQLLTVHGRTKEQKGPLSGAASWEHIKAVRKAVAIPVFANGN
IQCLQDVERCLRDTGVQGVMSAEGNLHNPALFEGRSPAVWELAEEYLDIVREHPCPLSYVRAHLFKLWHHTLQVHQELREELAKVKTLEGIAAVSQELKLRCQEE
ISRQEGAKPTGDLPFHWICQPYIRPGPREGSKEKAGARSKRALEEEEGGTEVLSKNKQKKQLRNPHKTFDPSLKPKYAKCDQCGNPKGNRCVFSLCRGCCKKRAS
KETADCPGHGLLFKTKLEKSLAWKEAQPELQEPQPAAPGTPGGFSEVMGSALA
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Evidence summary Top

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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) 0 (2) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top