AutismKB 2.0

Evidence Details for SPR


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Basic Information Top
Gene Symbol:SPR ( SDR38C1 )
Gene Full Name: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Band: 2p13.2
Quick LinksEntrez ID:6697; OMIM: 182125; Uniprot ID:SPRE_HUMAN; ENSEMBL ID: ENSG00000116096; HGNC ID: 11257
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPR|6697|nucleotide
ATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCC
GTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTG
GGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGCTCTCTTGGG
GATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAG
GCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCT
GCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTCCTCTGGACACAGACATGCAGCAGTTGGCCCGG
GAGACCTCCGTGGACCCAGACATGCGAAAAGGGCTGCAGGAGCTGAAGGCAAAGGGGAAGCTGGTGGATTGCAAGGTGTCAGCCCAGAAACTGCTGAGCTTACTG
GAAAAGGACGAGTTCAAGTCTGGAGCCCACGTGGACTTCTATGACAAATAA



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>SPR|6697|protein
MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLLGALRELPRPKGLQRLLLINNAGSLG
DVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLAR
ETSVDPDMRKGLQELKAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK


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