AutismKB 2.0

Evidence Details for BTBD9


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Basic Information Top
Gene Symbol:BTBD9 ( FLJ32945,KIAA1880,MGC120517,MGC120519,MGC120520,dJ322I12.1 )
Gene Full Name: BTB (POZ) domain containing 9
Band: 6p21.2
Quick LinksEntrez ID:114781; OMIM: 611237; Uniprot ID:BTBD9_HUMAN; ENSEMBL ID: ENSG00000183826; HGNC ID: 21228
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BTBD9|114781|nucleotide
ATGAGTAACAGCCACCCTCTTCGCCCCTTTACTGCAGTGGGGGAAATTGATCATGTGCACATTTTGTCTGAACATATTGGTGCCTTGTTGATTGGGGAAGAATAT
GGCGACGTCACATTCGTGGTGGAAAAGAAACGTTTTCCTGCCCACAGGGTAATTTTAGCAGCCAGGTGCCAATATTTTCGAGCATTATTATATGGTGGAATGCGA
GAGTCTCAGCCTGAAGCAGAAATTCCTCTCCAAGACACCACTGCAGAAGCATTCACAATGCTACTCAAATATATCTACACTGGGCGGGCAACGCTGACAGATGAG
AAGGAGGAGGTGCTGCTGGACTTTTTGAGCCTGGCTCATAAATATGGATTTCCAGAGCTAGAGGATTCTACCTCTGAGTATCTCTGCACCATACTTAACATTCAG
AATGTCTGCATGACTTTTGATGTTGCCAGTCTCTACTCACTTCCCAAGTTAACTTGTATGTGCTGCATGTTTATGGATAGGAATGCTCAGGAAGTCCTCTCAAGT
GAAGGTTTCCTCTCCCTTTCTAAGACAGCACTTTTAAACATCGTGTTAAGAGACTCATTTGCAGCTCCCGAAAAAGATATTTTCCTAGCCTTATTAAACTGGTGT
AAGCACAATTCAAAGGAGAATCATGCTGAAATCATGCAGGCTGTGCGTTTACCTCTCATGAGCCTCACAGAGCTTCTGAATGTTGTGAGGCCTTCAGGACTGCTG
TCTCCTGATGCCATCCTGGATGCCATTAAAGTGCGATCTGAGAGCCGGGATATGGACCTCAATTATAGAGGCATGCTCATACCAGAAGAAAACATTGCAACTATG
AAGTATGGAGCCCAAGTTGTAAAGGGGGAGCTGAAATCAGCCTTATTAGATGGTGATACTCAAAATTATGATTTGGATCATGGATTTTCAAGGCACCCAATTGAT
GATGACTGCCGTTCCGGCATCGAGATTAAGCTAGGTCAGCCATCCATTATCAATCACATACGGATACTCTTGTGGGACCGAGATAGCCGGTCTTACTCATACTTC
ATTGAAGTGTCAATGGATGAACTTGATTGGGTCAGAGTGATAGATCATTCACAATATCTGTGTCGTTCTTGGCAGAAATTATATTTTCCAGCCCGTGTCTGCAGG
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>BTBD9|114781|protein
MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRVILAARCQYFRALLYGGMRESQPEAEIPLQDTTAEAFTMLLKYIYTGRATLTDE
KEEVLLDFLSLAHKYGFPELEDSTSEYLCTILNIQNVCMTFDVASLYSLPKLTCMCCMFMDRNAQEVLSSEGFLSLSKTALLNIVLRDSFAAPEKDIFLALLNWC
KHNSKENHAEIMQAVRLPLMSLTELLNVVRPSGLLSPDAILDAIKVRSESRDMDLNYRGMLIPEENIATMKYGAQVVKGELKSALLDGDTQNYDLDHGFSRHPID
DDCRSGIEIKLGQPSIINHIRILLWDRDSRSYSYFIEVSMDELDWVRVIDHSQYLCRSWQKLYFPARVCRYIRIVGTHNTVNKIFHIVAFECMFTNKTFTLEKGL
IVPMENVATIADCASVIEGVSRSRNALLNGDTKNYDWDSGYTCHQLGSGAIVVQLAQPYMIGSIRLLLWDCDDRSYSYYVEVSTNQQQWTMVADRTKVSCKSWQS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top