AutismKB 2.0

Evidence Details for KBTBD12


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Basic Information Top
Gene Symbol:KBTBD12 ( DKFZp779E2271,FLJ46299,KLHDC6 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 12
Band: 3q21.3
Quick LinksEntrez ID:166348; OMIM: NA; Uniprot ID:KBTBC_HUMAN; ENSEMBL ID: ENSG00000187715; HGNC ID: 25731
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KBTBD12|166348|nucleotide
ATGGAGTGCAAGATTGAGGGAAAAGAAAAATACCAACATAGCTTGAATTTACTGAATAAAATTCAGAACATGAAAGAATTAGCAGAAATGATTGATGTGGTACTC
ACAGCAGAAGGAGAGAAATTTCCTTGCCACAGACTGGTCCTGGCTGCATTTAGCCCTTATTTCAAAGCTATGTTCACCTGTGGACTACTTGAATGTAATCAAAGG
GAAGTCATACTTTATGACATCACAGCAGAAAGTGTGTCGGTGTTATTAAATTACATGTACAATGCAGCTTTGGAGATCAATAATGCCAATGTACAGACTGTAGCT
ATGGCTGCCTATTTTATGCAGATGGAAGAAGTCTTCAGTGTGTGTCAAAAATATATGATGGACCACATGGATGCCTCCAACTGTTTAGGTATCTATTATTTTGCA
AAGCAGATTGGAGCTGAAGATTTATCTGATCGATCAAAGAAATATTTATATCAGCACTTTGCCGAGGTGAGCTTACATGAAGAAATACTAGAAATCGAAGTGCAC
CAATTTTTGACACTTATTAAATCAGATGATCTTAACATATCCAGAGAAGAGAGCATTCTGGACTTAGTTCTGAGATGGGTAAATCATAACAAAGAATTGCGTACA
GTGCATCTTGTTGAGCTTTTGAAGCAAGTCAGATTGGAACTTGTAAATCCTTCTTTTTTAAGACAAGCCCTAAGAAGGAACACAATGCTTCTGTGTGATGCAGAT
TGTGTTGACATAATTCAAAATGCATTCAAAGCCATCAAGACACCCCAACAGCACTCTCTAAATCTGCGCTATGGTATGGAGACTACCAGTCTTCTGCTTTGCATT
GGCAACAATTCTTCAGGAATCAGATCAAGACATAGGAGCTATGGGGATGCCAGTTTTTGTTATGATCCTGTATCACGGAAAACCTATTTCATCTCATCTCCCAAG
TACGGAGAGGGTTTAGGAACTGTGTGTACTGGTGTTGTCATGGAAAATAATACTATAATTGTGGCTGGAGAAGCAAGTGCCTCTAAACTCTCTAGACAAAAGAAC
AAGAATGTTGAAATTTATAGGTATCATGATAGAGGAAACCAGTTTTGGGAAAAGTTATGCACAGCTGAATTTCGAGAACTCTATGCTCTGGGCAGTATTCATAAT
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>KBTBD12|166348|protein
MECKIEGKEKYQHSLNLLNKIQNMKELAEMIDVVLTAEGEKFPCHRLVLAAFSPYFKAMFTCGLLECNQREVILYDITAESVSVLLNYMYNAALEINNANVQTVA
MAAYFMQMEEVFSVCQKYMMDHMDASNCLGIYYFAKQIGAEDLSDRSKKYLYQHFAEVSLHEEILEIEVHQFLTLIKSDDLNISREESILDLVLRWVNHNKELRT
VHLVELLKQVRLELVNPSFLRQALRRNTMLLCDADCVDIIQNAFKAIKTPQQHSLNLRYGMETTSLLLCIGNNSSGIRSRHRSYGDASFCYDPVSRKTYFISSPK
YGEGLGTVCTGVVMENNTIIVAGEASASKLSRQKNKNVEIYRYHDRGNQFWEKLCTAEFRELYALGSIHNDLYVIGGQMKIKNQYLITNCVDKYSVERDNWKRVS
PLPLQLACHAVVTVNNKLYVIGGWTPQMDLPDEEPDRLSNKLLQYDPSQDQWSVRAPMKYSKYRFSTAVVNSEIYVLGGIGCVGQDKGQVRKCLDVVEIYNPDGD
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top