AutismKB 2.0

Evidence Details for BTD


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Basic Information Top
Gene Symbol:BTD ( - )
Gene Full Name: biotinidase
Band: 3p25.1
Quick LinksEntrez ID:686; OMIM: 609019; Uniprot ID:BTD_HUMAN; ENSEMBL ID: ENSG00000169814; HGNC ID: 1122
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BTD|686|nucleotide
ATGGCGCATGCGCATATTCAGGGCGGAAGGCGCGCTAAGAGCAGATTTGTGGTCTGCATTATGTCTGGAGCCAGAAGTAAGCTTGCTCTTTTCCTCTGCGGCTGT
TACGTGGTTGCCCTGGGAGCCCACACCGGGGAGGAGAGCGTGGCTGACCATCACGAGGCTGAATATTATGTGGCTGCCGTGTATGAGCATCCATCCATCCTGAGT
CTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGAACCAGAACCTTGACATCTATGAACAGCAAGTGATGACTGCAGCCCAAAAGGATGTA
CAGATTATAGTGTTTCCAGAAGATGGCATTCATGGATTCAACTTTACAAGAACATCCATTTATCCATTTTTGGACTTCATGCCGTCTCCCCAGGTGGTCAGGTGG
AACCCATGCCTGGAGCCTCACCGCTTCAATGACACAGAGGTGCTCCAGCGCCTGAGTTGTATGGCCATCAGGGGAGATATGTTCTTGGTGGCCAATCTTGGGACA
AAGGAGCCTTGTCATAGCAGTGACCCAAGGTGCCCAAAAGATGGGAGATACCAGTTCAACACAAATGTCGTGTTCAGCAATAATGGAACCCTTGTTGACCGCTAC
CGTAAACACAACCTCTACTTTGAGGCAGCATTCGATGTTCCTCTTAAAGTGGATCTCATCACCTTTGATACCCCCTTTGCTGGCAGGTTTGGCATCTTCACATGC
TTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAGGTGAAGCATGTTGTGTACCCAACTGCCTGGATGAACCAGCTCCCACTCTTGGCA
GCAATTGAGATTCAGAAAGCTTTTGCTGTTGCCTTTGGCATCAACGTTCTGGCAGCTAATGTCCACCACCCAGTTCTGGGGATGACAGGAAGTGGCATACACACC
CCTCTGGAGTCCTTTTGGTACCATGACATGGAAAATCCCAAAAGTCACCTTATAATTGCCCAGGTGGCCAAAAATCCAGTGGGTCTCATTGGTGCAGAGAATGCA
ACAGGTGAAACGGACCCATCCCATAGTAAGTTTTTAAAAATTTTGTCAGGCGATCCGTACTGTGAGAAGGATGCTCAGGAAGTCCACTGTGATGAGGCCACCAAG
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>BTD|686|protein
MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDV
QIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRY
RKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHT
PLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSN
GLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSR
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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) Yes 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMBiotinidase deficiency (253260)
DescriptionBiotinidase deficiency
Reference(s)13680408;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top