AutismKB 2.0

Evidence Details for SBK1


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Basic Information Top
Gene Symbol:SBK1 ( Sbk )
Gene Full Name: SH3-binding domain kinase 1
Band: 16p11.2
Quick LinksEntrez ID:388228; OMIM: NA; Uniprot ID:SBK1_HUMAN; ENSEMBL ID: ENSG00000188322; HGNC ID: 17699
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SBK1|388228|nucleotide
ATGAGCGTGGGCTGCCCAGAGCCTGAGCCGCCCCGCTCCCTGACCTGCTGTGGGCCGGGGACTGCCCCTGGGCCTGGTGCCGGTGTGCCCCTTCTCACTGAAGAC
ATGCAGGCCCTGACTCTCCGCACACTGGCCGCCAGCGACGTCACCAAGCACTACGAACTAGTCCGGGAGCTGGGCAAAGGCACCTATGGGAAGGTTGACCTGGTG
GTCTACAAGGGCACAGGCACAAAAATGGCACTGAAGTTTGTGAACAAGAGCAAAACCAAGCTGAAGAACTTCCTACGGGAGGTGAGCATCACCAACAGCCTCTCC
TCCAGCCCCTTCATCATCAAGGTCTTTGACGTGGTCTTTGAGACAGAGGACTGCTACGTCTTTGCCCAGGAGTACGCACCTGCTGGGGACCTGTTTGACATCATC
CCTCCCCAGGTGGGGCTCCCTGAGGACACGGTGAAGCGCTGTGTGCAGCAGCTGGGCCTGGCGCTGGACTTCATGCACGGGCGGCAGCTGGTGCACCGCGACATC
AAGCCCGAGAACGTGCTGCTGTTCGACCGCGAGTGCCGCCGCGTAAAGCTGGCCGACTTCGGCATGACGCGCCGCGTGGGCTGCCGCGTCAAGCGCGTGAGCGGC
ACCATCCCTTACACGGCGCCTGAGGTGTGCCAGGCGGGCCGCGCCGACGGGCTGGCGGTGGACACGGGCGTGGACGTGTGGGCCTTCGGCGTGCTCATCTTCTGC
GTGCTCACCGGCAACTTCCCGTGGGAGGCGGCGTCGGGCGCCGACGCCTTCTTCGAGGAGTTCGTGCGCTGGCAGCGGGGCCGCCTGCCGGGGCTGCCTTCGCAG
TGGCGCCGCTTCACCGAGCCCGCGCTGCGCATGTTCCAGCGCTTACTGGCCCTGGAGCCCGAGCGCCGCGGCCCAGCCAAGGAGGTGTTCCGCTTCCTCAAGCAC
GAGCTCACGTCCGAGCTGCGCCGCCGGCCCTCGCACCGCGCGCGCAAGCCCCCCGGGGACCGCCCGCCCGCCGCCGGGCCACTGCGCCTCGAGGCGCCTGGGCCG
CTCAAGCGGACGGTGCTGACCGAGAGCGGCAGCGGCTCCCGGCCCGCGCCCCCCGCCGTCGGGTCGGTGCCCTTGCCCGTGCCGGTGCCGGTGCCAGTGCCCGTG
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>SBK1|388228|protein
MSVGCPEPEPPRSLTCCGPGTAPGPGAGVPLLTEDMQALTLRTLAASDVTKHYELVRELGKGTYGKVDLVVYKGTGTKMALKFVNKSKTKLKNFLREVSITNSLS
SSPFIIKVFDVVFETEDCYVFAQEYAPAGDLFDIIPPQVGLPEDTVKRCVQQLGLALDFMHGRQLVHRDIKPENVLLFDRECRRVKLADFGMTRRVGCRVKRVSG
TIPYTAPEVCQAGRADGLAVDTGVDVWAFGVLIFCVLTGNFPWEAASGADAFFEEFVRWQRGRLPGLPSQWRRFTEPALRMFQRLLALEPERRGPAKEVFRFLKH
ELTSELRRRPSHRARKPPGDRPPAAGPLRLEAPGPLKRTVLTESGSGSRPAPPAVGSVPLPVPVPVPVPVPVPVPEPGLAPQGPPGRTDGRADKSKGQVVLATAI
EICV
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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) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top