AutismKB 2.0

Evidence Details for NR5A1


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Basic Information Top
Gene Symbol:NR5A1 ( AD4BP,ELP,FTZ1,FTZF1,POF7,SF-1,SF1 )
Gene Full Name: nuclear receptor subfamily 5, group A, member 1
Band: 9q33.3
Quick LinksEntrez ID:2516; OMIM: 184757; Uniprot ID:STF1_HUMAN; ENSEMBL ID: ENSG00000136931; HGNC ID: 7983
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NR5A1|2516|nucleotide
ATGGACTATTCGTACGACGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTGTCCGGCTACCACTACGGACTGCTCACGTGTGAGAGCTGCAAGGGC
TTCTTCAAGCGCACGGTGCAGAACAACAAGCACTACACGTGCACCGAGAGCCAGAGCTGCAAGATCGACAAGACGCAGCGCAAGCGCTGTCCCTTCTGCCGCTTC
CAGAAATGCCTGACGGTGGGGATGCGCCTGGAAGCCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAGCGGGACCGGGCCCTG
AAACAGCAGAAGAAGGCACAGATTCGGGCCAATGGCTTCAAGCTGGAGACAGGGCCCCCGATGGGGGTGCCCCCGCCGCCCCCTCCCGCACCGGACTACGTGCTG
CCTCCCAGCCTGCATGGGCCTGAGCCCAAGGGCCTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGT
GCCCACGGGCCACTGGCTGGCTACCTCTACCCTGCCTTTCCTGGCCGTGCCATCAAGTCTGAGTACCCGGAGCCTTATGCCAGCCCCCCACAGCCTGGGCTGCCG
TACGGCTACCCAGAGCCCTTCTCTGGAGGGCCCAACGTGCCTGAGCTCATCCTGCAGCTGCTGCAGCTGGAGCCGGATGAGGACCAGGTGCGGGCCCGCATCTTG
GGCTGCCTGCAGGAGCCCACCAAAAGCCGCCCCGACCAGCCGGCGGCCTTCGGCCTCCTGTGCAGAATGGCCGACCAGACCTTCATCTCCATCGTGGACTGGGCA
CGCAGGTGCATGGTCTTCAAGGAGCTGGAGGTGGCCGACCAGATGACGCTGCTGCAGAACTGCTGGAGCGAGCTGCTGGTGTTCGACCACATCTACCGCCAGGTC
CAGCACGGCAAGGAGGGCAGCATCCTGCTGGTCACCGGGCAGGAGGTGGAGCTGACCACAGTGGCCACCCAGGCGGGCTCGCTGCTGCACAGCCTGGTGTTGCGG
GCGCAGGAGCTGGTGCTGCAGCTGCTTGCGCTGCAGCTGGACCGGCAGGAGTTTGTCTGCCTCAAGTTCATCATCCTCTTCAGCCTGGATTTGAAGTTCCTGAAT
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>NR5A1|2516|protein
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRAL
KQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLP
YGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQV
QHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL
LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT
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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 (0) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top