AutismKB 2.0

Evidence Details for NSDHL


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Basic Information Top
Gene Symbol:NSDHL ( H105E3,SDR31E1,XAP104 )
Gene Full Name: NAD(P) dependent steroid dehydrogenase-like
Band: Xq28
Quick LinksEntrez ID:50814; OMIM: 300275; Uniprot ID:NSDHL_HUMAN; ENSEMBL ID: ENSG00000147383; HGNC ID: 13398
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NSDHL|50814|nucleotide
ATGGAACCAGCAGTTAGCGAGCCAATGAGAGACCAAGTCGCACGGACTCATTTGACAGAGGACACTCCCAAAGTGAATGCTGACATAGAAAAGGTTAACCAGAAT
CAGGCCAAGAGATGCACAGTGATCGGTGGCTCTGGATTCCTGGGGCAGCACATGGTGGAGCAGTTGCTGGCAAGAGGATATGCTGTCAATGTATTTGATATCCAG
CAAGGGTTTGATAATCCCCAGGTGCGGTTCTTTCTGGGTGACCTCTGCAGCCGACAGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCG
TCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTC
ATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACT
AAGATCTTACAGGAGAGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAG
TTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCAT
GGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCT
CGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCCTACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGT
CCTGTCATCCAGCTGCAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAG
CCACTAGTGACCATGGATGATGCTATGGAGAGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGA
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>NSDHL|50814|protein
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCA
SPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQ
LVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVIS
PVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top