AutismKB 2.0

Evidence Details for BSPRY


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Basic Information Top
Gene Symbol:BSPRY ( FLJ20150 )
Gene Full Name: B-box and SPRY domain containing
Band: 9q32
Quick LinksEntrez ID:54836; OMIM: NA; Uniprot ID:BSPRY_HUMAN; ENSEMBL ID: ENSG00000119411; HGNC ID: 18232
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BSPRY|54836|nucleotide
ATGTCCGCCGAGGGCGCGGAGCCGGGGCCGGGGTCCGGGTCCGGGCCCGGGCCGGGGCCACTCTGCCCCGAACACGGCCAGGCTCTGAGCTGGTTCTGCGGCTCC
GAGCGACGGCCCGTGTGCGCCGCCTGCGCGGGGTTGGGCGGTCGCTGCCGGGGGCACCGCATCCGCCGGGCGGAGGAGCGCGCCGAGGAGCTGCGGAACAAGATT
GTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGAGCATGGCCAGTGCA
GCGAGGGAACTGGTTATCCAGCGGTTGAGTCTGGTGAGGAGTCTTTGCGAGAGCGAGGAGCAGCGGTTACTGGAACAGGTGCATGGCGAAGAGGAGCGGGCCCAC
CAGAGCATCCTGACACAGCGGGTGCACTGGGCCGAGGCGCTGCAGAAACTTGACACCATCCGCACTGGCCTGGTGGGCATGCTTACTCACCTGGATGACCTCCAG
CTGATTCAGAAGGAGCAAGAGATTTTCGAGAGGACCGAAGAAGCAGAGGGCATTTTGGATCCCCAGGAGTCGGAAATGTTAAACTTTAATGAGAAGTGCACTCGG
AGCCCACTACTGACCCAACTCTGGGCAACGGCGGTTCTTGGGTCTCTCTCAGGCACAGAGGACATACGGATCGATGAGAGGACAGTCAGCCCCTTCCTGCAATTG
TCAGATGATCGAAAGACCCTGACCTTCAGCACCAAGAAGTCAAAGGCCTGTGCAGATGGCCCGGAGCGCTTCGACCACTGGCCCAATGCCCTGGCTGCCACCTCC
TTCCAGAATGGGCTCCATGCCTGGATGGTGAATGTCCAGAACAGTTGTGCCTATAAGGTGGGCGTGGCTTCAGGCCACCTGCCCCGCAAGGGTTCTGGCAGTGAC
TGCCGTCTGGGCCACAATGCCTTCTCCTGGGTCTTCTCTCGCTATGATCAGGAGTTTCGTTTCTCACACAATGGGCAGCACGAGCCCCTGGGGCTGCTGCGGGGC
CCAGCCCAGCTGGGTGTAGTGCTGGACTTGCAGGTTCAGGAGCTGCTCTTCTATGAGCCAGCCTCCGGCACAGTGCTCTGTGCCCATCATGTGTCCTTCCCGGGG
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>BSPRY|54836|protein
MSAEGAEPGPGSGSGPGPGPLCPEHGQALSWFCGSERRPVCAACAGLGGRCRGHRIRRAEERAEELRNKIVDQCERLQLQSAAITKYVADVLPGKNQRAVSMASA
ARELVIQRLSLVRSLCESEEQRLLEQVHGEEERAHQSILTQRVHWAEALQKLDTIRTGLVGMLTHLDDLQLIQKEQEIFERTEEAEGILDPQESEMLNFNEKCTR
SPLLTQLWATAVLGSLSGTEDIRIDERTVSPFLQLSDDRKTLTFSTKKSKACADGPERFDHWPNALAATSFQNGLHAWMVNVQNSCAYKVGVASGHLPRKGSGSD
CRLGHNAFSWVFSRYDQEFRFSHNGQHEPLGLLRGPAQLGVVLDLQVQELLFYEPASGTVLCAHHVSFPGPLFPVFAVADQTISIVR

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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 (1) 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