AutismKB 2.0

Evidence Details for BTBD8


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Basic Information Top
Gene Symbol:BTBD8 ( - )
Gene Full Name: BTB (POZ) domain containing 8
Band: 1p22.1
Quick LinksEntrez ID:284697; OMIM: NA; Uniprot ID:BTBD8_HUMAN; ENSEMBL ID: ENSG00000189195; HGNC ID: 21019
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BTBD8|284697|nucleotide
ATGGCTCGCTGTGGGGAAGGCAGTGCGGCCCCCATGGTACTTCTGGGGTCCGCTGGAGTTTGCAGTAAGGGGTTGCAAAGGAAGGGGCCGTGTGAGCGGCGCCGG
CTGAAGGCGACGGTGTCGGAGCAGCTCAGCCAGGATTTGCTCAGGCTTCTAAGGGAAGAATTCCATACAGATGTTACCTTCTCTGTGGGTTGTACTTTGTTCAAA
GCACACAAAGCAGTCCTTTTAGCAAGAGTTCCTGACTTCTATTTTCATACTATTGGACAGACATCAAATAGTTTAACAAATCAGGAGCCTATTGCTGTGGAGAAT
GTTGAAGCTTTAGAATTTAGAACGTTTTTACAGATTATATATTCATCAAACAGAAACATAAAAAACTATGAAGAGGAAATTCTTAGGAAAAAGATAATGGAGATT
GGGATATCACAAAAGCAACTTGACATCAGTTTTCCAAAGTGTGAAAACTCATCTGATTGTTCTCTTCAGAAGCATGAAATTCCAGAGGATATCAGTGACAGAGAT
GATGATTTCATTTCCAATGATAATTATGACTTGGAGCCTGCATCTGAATTAGGAGAAGATTTATTGAAGCTTTATGTGAAACCTTGTTGCCCAGATATTGATATT
TTTGTTGATGGAAAACGTTTTAAAGCTCACAGGGCCATTTTGAGTGCCAGATCTAGTTATTTTGCTGCAATGCTGAGTGGCTGTTGGGCTGAAAGCTCCCAAGAG
TACGTTACTCTTCAAGGTATAAGCCATGTAGAACTGAATGTTATGATGCATTTTATATATGGAGGAACTCTGGACATTCCAGACAAAACTAATGTTGGTCAGATA
CTCAATATGGCTGATATGTATGGACTAGAAGGATTAAAAGAAGTAGCAATCTATATTTTAAGAAGAGATTACTGTAATTTCTTTCAGAAGCCTGTTCCCAGAACA
TTGACGTCTATACTAGAATGCCTGATTATTGCTCATTCAGTTGGAGTGGAAAGTCTTTTTGCTGACTGCATGAAGTGGATTGTAAAGCATTTTGCAAGGTTTTGG
TCTGAGAGAAGCTTTGCAAATATACCTCCTGAGATTCAGAAAAGTTGTCTTAATATGTTGATTCAGTCCTTAGTAAGTATAACCTGA
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>BTBD8|284697|protein
MARCGEGSAAPMVLLGSAGVCSKGLQRKGPCERRRLKATVSEQLSQDLLRLLREEFHTDVTFSVGCTLFKAHKAVLLARVPDFYFHTIGQTSNSLTNQEPIAVEN
VEALEFRTFLQIIYSSNRNIKNYEEEILRKKIMEIGISQKQLDISFPKCENSSDCSLQKHEIPEDISDRDDDFISNDNYDLEPASELGEDLLKLYVKPCCPDIDI
FVDGKRFKAHRAILSARSSYFAAMLSGCWAESSQEYVTLQGISHVELNVMMHFIYGGTLDIPDKTNVGQILNMADMYGLEGLKEVAIYILRRDYCNFFQKPVPRT
LTSILECLIIAHSVGVESLFADCMKWIVKHFARFWSERSFANIPPEIQKSCLNMLIQSLVSIT

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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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top