AutismKB 2.0

Evidence Details for NR5A2


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Basic Information Top
Gene Symbol:NR5A2 ( B1F,B1F2,CPF,FTF,FTZ-F1,FTZ-F1beta,LRH-1,LRH1,hB1F,hB1F-2 )
Gene Full Name: nuclear receptor subfamily 5, group A, member 2
Band: 1q32.1
Quick LinksEntrez ID:2494; OMIM: 604453; Uniprot ID:NR5A2_HUMAN; ENSEMBL ID: ENSG00000116833; HGNC ID: 7984
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NR5A2|2494|nucleotide
ATGTCTTCTAATTCAGATACTGGGGATTTACAAGAGTCTTTAAAGCACGGACTTACACCTATTGTGTCTCAATTTAAAATGGTGAATTACTCCTATGATGAAGAT
CTGGAAGAGCTTTGTCCCGTGTGTGGAGATAAAGTGTCTGGGTACCATTATGGGCTCCTCACCTGTGAAAGCTGCAAGGGATTTTTTAAGCGAACAGTCCAAAAT
AATAAAAGGTACACATGTATAGAAAACCAGAACTGCCAAATTGACAAAACACAGAGAAAGCGTTGTCCTTACTGTCGTTTTCAAAAATGTCTAAGTGTTGGAATG
AAGCTAGAAGCTGTAAGGGCCGACCGAATGCGTGGAGGAAGGAATAAGTTTGGGCCAATGTACAAGAGAGACAGGGCCCTGAAGCAACAGAAAAAAGCCCTCATC
CGAGCCAATGGACTTAAGCTAGAAGCCATGTCTCAGGTGATCCAAGCTATGCCCTCTGACCTGACCATTTCCTCTGCAATTCAAAACATCCACTCTGCCTCCAAA
GGCCTACCTCTGAACCATGCTGCCTTGCCTCCTACAGACTATGACAGAAGTCCCTTTGTAACATCCCCCATTAGCATGACAATGCCCCCTCACGGCAGCCTGCAA
GGTTACCAAACATATGGCCACTTTCCTAGCCGGGCCATCAAGTCTGAGTACCCAGACCCCTATACCAGCTCACCCGAGTCCATAATGGGCTATTCATATATGGAT
AGTTACCAGACGAGCTCTCCAGCAAGCATCCCACATCTGATACTGGAACTTTTGAAGTGTGAGCCAGATGAGCCTCAAGTCCAGGCTAAAATCATGGCCTATTTG
CAGCAAGAGCAGGCTAACCGAAGCAAGCACGAAAAGCTGAGCACCTTTGGGCTTATGTGCAAAATGGCAGATCAAACTCTCTTCTCCATTGTCGAGTGGGCCAGG
AGTAGTATCTTCTTCAGAGAACTTAAGGTTGATGACCAAATGAAGCTGCTTCAGAACTGCTGGAGTGAGCTCTTAATCCTCGACCACATTTACCGACAAGTGGTA
CATGGAAAGGAAGGATCCATCTTCCTGGTTACTGGGCAACAAGTGGACTATTCCATAATAGCATCACAAGCCGGAGCCACCCTCAACAACCTCATGAGTCATGCA
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>NR5A2|2494|protein
MSSNSDTGDLQESLKHGLTPIVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGM
KLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQ
GYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWAR
SSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLEN
FQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top