AutismKB 2.0

Evidence Details for BSDC1


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Basic Information Top
Gene Symbol:BSDC1 ( DKFZp686B09139,FLJ10276 )
Gene Full Name: BSD domain containing 1
Band: 1p35.1
Quick LinksEntrez ID:55108; OMIM: NA; Uniprot ID:BSDC1_HUMAN; ENSEMBL ID: ENSG00000160058; HGNC ID: 25501
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BSDC1|55108|nucleotide
ATGGCGGAAGGGGAGGACGTGGGATGGTGGCGGAGCTGGCTGCAGCAGAGCTACCAAGCAGTCAAAGAGAAGTCCTCTGAAGCCTTGGAGTTTATGAAGCGGGAC
CTGACGGAGTTTACCCAGGTGGTGCAGCATGACACGGCCTGTACCATCGCAGCCACGGCCAGCGTGGTCAAGGAGAAGCTGGCTATTGCAGCCTGTTCCCGGGGC
GCTTGCTTCCTCTGCCCGTTCTCTATACAGACGGAAGGCTCCTCAGGAGCAACAGAGAAGATGAAGAAAGGGTTATCTGACTTCCTAGGGGTGATCTCAGACACC
TTTGCCCCTTCGCCAGACAAAACCATCGACTGCGATGTCATCACCCTGATGGGCACACCGTCTGGCACAGCTGAGCCCTATGATGGCACCAAGGCTCGCCTCTAT
AGCCTGCAGTCGGACCCAGCAACCTACTGTAATGAACCAGATGGGCCCCCGGAATTGTTTGACGCCTGGCTTTCCCAGTTCTGCTTGGAGGAGAAGAAGGGGGAG
ATCTCAGAGCTCCTTGTAGGCAGCCCCTCCATCCGGGCCCTCTACACCAAGATGGTTCCAGCAGCTGTTTCCCATTCAGAATTCTGGCATCGGTATTTCTATAAA
GTCCATCAGTTAGAGCAGGAGCAGGCCCGGAGGGACGCCCTGAAGCAGCGGGCGGAACAGAGCATCTCTGAAGAGCCCGGCTGGGAGGAGGAGGAAGAGGAGCTC
ATGGGCATTTCACCCATATCTCCAAAAGAGGCAAAGGTTCCTGTGGCCAAAATTTCTACATTCCCTGAAGGAGAACCTGGCCCCCAGAGCCCCTGTGAAGAGAAT
CTGGTGACTTCAGTTGAGCCCCCAGCAGAGGTGACTCCATCAGAGAGCAGTGAGAGCATCTCCCTCGTGACACAGATCGCCAACCCGGCCACTGCACCTGAGGCA
CGAGTGCTACCCAAGGACCTGTCCCAAAAGCTGCTAGAGGCATCCTTGGAGGAACAGGGCCTGGCTGTGGATGTGGGTGAGACTGGACCCTCACCCCCTATTCAC
TCCAAGCCCCTAACGCCTGCTGGCCACACCGGCGGCCCAGAGCCCAGGCCTCCAGCCAGAGTAGAGACTCTGAGGGAGGAGGCGCCCACAGACTTACGGGTGTTT
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>BSDC1|55108|protein
MAEGEDVGWWRSWLQQSYQAVKEKSSEALEFMKRDLTEFTQVVQHDTACTIAATASVVKEKLAIAACSRGACFLCPFSIQTEGSSGATEKMKKGLSDFLGVISDT
FAPSPDKTIDCDVITLMGTPSGTAEPYDGTKARLYSLQSDPATYCNEPDGPPELFDAWLSQFCLEEKKGEISELLVGSPSIRALYTKMVPAAVSHSEFWHRYFYK
VHQLEQEQARRDALKQRAEQSISEEPGWEEEEEELMGISPISPKEAKVPVAKISTFPEGEPGPQSPCEENLVTSVEPPAEVTPSESSESISLVTQIANPATAPEA
RVLPKDLSQKLLEASLEEQGLAVDVGETGPSPPIHSKPLTPAGHTGGPEPRPPARVETLREEAPTDLRVFELNSDSGKSTPSNNGKKGSSTDISEDWEKDFDLDM
TEEEVQMALSKVDASGELEDVEWEDWE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top