AutismKB 2.0

Evidence Details for SDR42E1


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Basic Information Top
Gene Symbol:SDR42E1 ( - )
Gene Full Name: short chain dehydrogenase/reductase family 42E, member 1
Band: 16q23.3
Quick LinksEntrez ID:93517; OMIM: NA; Uniprot ID:D42E1_HUMAN; ENSEMBL ID: ENSG00000184860; HGNC ID: 29834
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SDR42E1|93517|nucleotide
ATGGACCCCAAAAGATCTCAAAAGGAAAGTGTCCTCATTACAGGAGGAAGTGGCTATTTTGGTTTTCGCCTGGGCTGTGCCCTGAACCAAAATGGAGTCCATGTG
ATTCTGTTTGACATCAGCAGCCCTGCTCAAACCATTCCAGAAGGAATCAAGTTTATACAAGGAGACATCCGCCACCTGTCTGACGTAGAGAAAGCCTTCCAGGAT
GCAGACGTCACTTGTGTGTTCCATATTGCCTCTTATGGTATGTCAGGGCGGGAGCAACTCAATCGAAACCTGATCAAAGAAGTCAACGTCAGGGGCACAGACAAC
ATCCTCCAGGTTTGCCAAAGGAGAAGGGTGCCCAGGTTAGTTTACACCAGCACTTTCAATGTCATCTTTGGAGGTCAAGTTATCAGAAATGGGGATGAATCTCTG
CCCTACCTGCCTCTTCACCTCCACCCTGATCACTACTCTCGGACAAAGTCAATTGCAGAGCAGAAGGTGCTGGAGGCGAATGCTACACCCCTGGACAGAGGCGAC
GGTGTCTTAAGAACCTGCGCTCTGAGGCCAGCTGGCATCTATGGGCCTGGAGAACAAAGACACCTTCCCAGGATAGTCAGCTACATCGAGAAGGGTCTGTTCAAG
TTTGTCTACGGGGACCCCAGGAGCCTGGTTGAGTTTGTCCACGTGGATAACTTGGTGCAGGCTCACATTCTGGCCTCAGAAGCCCTGAGAGCTGACAAGGGCCAT
ATTGCCTCTGGGCAGCCCTACTTCATCTCAGATGGCAGACCCGTGAACAACTTTGAGTTCTTCCGGCCTCTGGTTGAGGGCCTGGGCTACACATTCCCGTCTACC
CGCCTGCCATTGACCTTGGTCTACTGCTTTGCTTTTCTAACAGAGATGGTTCACTTCATTTTGGGTCGACTCTACAACTTCCAGCCCTTCCTCACTCGCACTGAA
GTTTACAAAACTGGTGTCACACATTATTTTAGCTTAGAGAAAGCCAAGAAAGAGCTAGGTTATAAGGCTCAGCCATTTGACCTCCAGGAAGCAGTGGAATGGTTT
AAAGCCCATGGTCATGGCAGAAGTTCTGGAAGTCGTGACTCGGAGTGTTTTGTTTGGGATGGGCTATTGGTCTTCCTCCTGATTATAGCAGTTCTCATGTGGCTG
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>SDR42E1|93517|protein
MDPKRSQKESVLITGGSGYFGFRLGCALNQNGVHVILFDISSPAQTIPEGIKFIQGDIRHLSDVEKAFQDADVTCVFHIASYGMSGREQLNRNLIKEVNVRGTDN
ILQVCQRRRVPRLVYTSTFNVIFGGQVIRNGDESLPYLPLHLHPDHYSRTKSIAEQKVLEANATPLDRGDGVLRTCALRPAGIYGPGEQRHLPRIVSYIEKGLFK
FVYGDPRSLVEFVHVDNLVQAHILASEALRADKGHIASGQPYFISDGRPVNNFEFFRPLVEGLGYTFPSTRLPLTLVYCFAFLTEMVHFILGRLYNFQPFLTRTE
VYKTGVTHYFSLEKAKKELGYKAQPFDLQEAVEWFKAHGHGRSSGSRDSECFVWDGLLVFLLIIAVLMWLPSSVILSL

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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top