Evidence Details for SBK1
Basic Information Top
Gene Symbol: | SBK1 ( Sbk ) |
---|---|
Gene Full Name: | SH3-binding domain kinase 1 |
Band: | 16p11.2 |
Quick Links | Entrez 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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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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MSVGCPEPEPPRSLTCCGPGTAPGPGAGVPLLTEDMQALTLRTLAASDVTKHYELVRELGKGTYGKVDLVVYKGTGTKMALKFVNKSKTKLKNFLREVSITNSLS
SSPFIIKVFDVVFETEDCYVFAQEYAPAGDLFDIIPPQVGLPEDTVKRCVQQLGLALDFMHGRQLVHRDIKPENVLLFDRECRRVKLADFGMTRRVGCRVKRVSG
TIPYTAPEVCQAGRADGLAVDTGVDVWAFGVLIFCVLTGNFPWEAASGADAFFEEFVRWQRGRLPGLPSQWRRFTEPALRMFQRLLALEPERRGPAKEVFRFLKH
ELTSELRRRPSHRARKPPGDRPPAAGPLRLEAPGPLKRTVLTESGSGSRPAPPAVGSVPLPVPVPVPVPVPVPVPEPGLAPQGPPGRTDGRADKSKGQVVLATAI
EICV
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 | - | FISH | autistic feature | - | - | - | - | 2 | - | 2 | ||
Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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