Evidence Details for SIK1
Basic Information Top
Gene Symbol: | SIK1 ( MSK,SIK,SNF1LK ) |
---|---|
Gene Full Name: | salt-inducible kinase 1 |
Band: | 21q22.3 |
Quick Links | Entrez ID:150094; OMIM: 605705; Uniprot ID:SIK1_HUMAN; ENSEMBL ID: ENSG00000142178; HGNC ID: 11142 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SIK1|150094|nucleotide
ATGGTTATCATGTCGGAGTTCAGCGCGGACCCCGCGGGCCAGGGTCAGGGCCAGCAGAAGCCCCTCCGGGTGGGTTTTTACGACATCGAGCGGACCCTGGGCAAA
GGCAACTTCGCGGTGGTGAAGCTGGCGCGGCATCGAGTCACCAAAACGCAGGTTGCAATAAAAATAATTGATAAAACACGATTAGATTCAAGCAATTTGGAGAAA
ATCTATCGTGAGGTTCAGCTGATGAAGCTTCTGAACCATCCACACATCATAAAGCTTTACCAGGTTATGGAAACAAAGGACATGCTTTACATCGTCACTGAATTT
GCTAAAAATGGAGAAATGTTTGATTATTTGACTTCCAACGGGCACCTGAGTGAGAACGAGGCGCGGAAGAAGTTCTGGCAAATCCTGTCGGCCGTGGAGTACTGT
CACGACCATCACATCGTCCACCGGGACCTCAAGACCGAGAACCTCCTGCTGGATGGCAACATGGACATCAAGCTGGCAGATTTTGGATTTGGGAATTTCTACAAG
TCAGGAGAGCCTCTGTCCACGTGGTGTGGGAGCCCCCCGTATGCCGCCCCGGAAGTCTTTGAGGGGAAGGAGTATGAAGGCCCCCAGCTGGACATCTGGAGCCTG
GGCGTGGTGCTGTACGTCCTGGTCTGCGGTTCTCTCCCCTTCGATGGGCCTAACCTGCCGACGCTGAGACAGCGGGTGCTGGAGGGCCGCTTCCGCATCCCCTTC
TTCATGTCTCAAGACTGTGAGAGCCTGATCCGCCGCATGCTGGTGGTGGACCCCGCCAGGCGCATCACCATCGCCCAGATCCGGCAGCACCGGTGGATGCGGGCT
GAGCCCTGCTTGCCGGGACCCGCCTGCCCCGCCTTCTCCGCACACAGCTACACCTCCAACCTGGGCGACTACGATGAGCAGGCGCTGGGTATCATGCAGACCCTG
GGCGTGGACCGGCAGAGGACGGTGGAGTCACTGCAAAACAGCAGCTATAACCACTTTGCTGCCATTTATTACCTCCTCCTTGAGCGGCTCAAGGAGTATCGGAAT
GCCCAGTGCGCCCGCCCCGGGCCTGCCAGGCAGCCGCGGCCTCGGAGCTCGGACCTCAGTGGTTTGGAGGTGCCTCAGGAAGGTCTTTCCACCGACCCTTTCCGA
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ATGGTTATCATGTCGGAGTTCAGCGCGGACCCCGCGGGCCAGGGTCAGGGCCAGCAGAAGCCCCTCCGGGTGGGTTTTTACGACATCGAGCGGACCCTGGGCAAA
GGCAACTTCGCGGTGGTGAAGCTGGCGCGGCATCGAGTCACCAAAACGCAGGTTGCAATAAAAATAATTGATAAAACACGATTAGATTCAAGCAATTTGGAGAAA
ATCTATCGTGAGGTTCAGCTGATGAAGCTTCTGAACCATCCACACATCATAAAGCTTTACCAGGTTATGGAAACAAAGGACATGCTTTACATCGTCACTGAATTT
GCTAAAAATGGAGAAATGTTTGATTATTTGACTTCCAACGGGCACCTGAGTGAGAACGAGGCGCGGAAGAAGTTCTGGCAAATCCTGTCGGCCGTGGAGTACTGT
CACGACCATCACATCGTCCACCGGGACCTCAAGACCGAGAACCTCCTGCTGGATGGCAACATGGACATCAAGCTGGCAGATTTTGGATTTGGGAATTTCTACAAG
TCAGGAGAGCCTCTGTCCACGTGGTGTGGGAGCCCCCCGTATGCCGCCCCGGAAGTCTTTGAGGGGAAGGAGTATGAAGGCCCCCAGCTGGACATCTGGAGCCTG
GGCGTGGTGCTGTACGTCCTGGTCTGCGGTTCTCTCCCCTTCGATGGGCCTAACCTGCCGACGCTGAGACAGCGGGTGCTGGAGGGCCGCTTCCGCATCCCCTTC
TTCATGTCTCAAGACTGTGAGAGCCTGATCCGCCGCATGCTGGTGGTGGACCCCGCCAGGCGCATCACCATCGCCCAGATCCGGCAGCACCGGTGGATGCGGGCT
GAGCCCTGCTTGCCGGGACCCGCCTGCCCCGCCTTCTCCGCACACAGCTACACCTCCAACCTGGGCGACTACGATGAGCAGGCGCTGGGTATCATGCAGACCCTG
GGCGTGGACCGGCAGAGGACGGTGGAGTCACTGCAAAACAGCAGCTATAACCACTTTGCTGCCATTTATTACCTCCTCCTTGAGCGGCTCAAGGAGTATCGGAAT
GCCCAGTGCGCCCGCCCCGGGCCTGCCAGGCAGCCGCGGCCTCGGAGCTCGGACCTCAGTGGTTTGGAGGTGCCTCAGGAAGGTCTTTCCACCGACCCTTTCCGA
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>SIK1|150094|protein
MVIMSEFSADPAGQGQGQQKPLRVGFYDIERTLGKGNFAVVKLARHRVTKTQVAIKIIDKTRLDSSNLEKIYREVQLMKLLNHPHIIKLYQVMETKDMLYIVTEF
AKNGEMFDYLTSNGHLSENEARKKFWQILSAVEYCHDHHIVHRDLKTENLLLDGNMDIKLADFGFGNFYKSGEPLSTWCGSPPYAAPEVFEGKEYEGPQLDIWSL
GVVLYVLVCGSLPFDGPNLPTLRQRVLEGRFRIPFFMSQDCESLIRRMLVVDPARRITIAQIRQHRWMRAEPCLPGPACPAFSAHSYTSNLGDYDEQALGIMQTL
GVDRQRTVESLQNSSYNHFAAIYYLLLERLKEYRNAQCARPGPARQPRPRSSDLSGLEVPQEGLSTDPFRPALLCPQPQTLVQSVLQAEMDCELQSSLQWPLFFP
VDASCSGVFRPRPVSPSSLLDTAISEEARQGPGLEEEQDTQESLPSSTGRRHTLAEVSTRLSPLTAPCIVVSPSTTASPAEGTSSDSCLTFSASKSPAGLSGTPA
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MVIMSEFSADPAGQGQGQQKPLRVGFYDIERTLGKGNFAVVKLARHRVTKTQVAIKIIDKTRLDSSNLEKIYREVQLMKLLNHPHIIKLYQVMETKDMLYIVTEF
AKNGEMFDYLTSNGHLSENEARKKFWQILSAVEYCHDHHIVHRDLKTENLLLDGNMDIKLADFGFGNFYKSGEPLSTWCGSPPYAAPEVFEGKEYEGPQLDIWSL
GVVLYVLVCGSLPFDGPNLPTLRQRVLEGRFRIPFFMSQDCESLIRRMLVVDPARRITIAQIRQHRWMRAEPCLPGPACPAFSAHSYTSNLGDYDEQALGIMQTL
GVDRQRTVESLQNSSYNHFAAIYYLLLERLKEYRNAQCARPGPARQPRPRSSDLSGLEVPQEGLSTDPFRPALLCPQPQTLVQSVLQAEMDCELQSSLQWPLFFP
VDASCSGVFRPRPVSPSSLLDTAISEEARQGPGLEEEQDTQESLPSSTGRRHTLAEVSTRLSPLTAPCIVVSPSTTASPAEGTSSDSCLTFSASKSPAGLSGTPA
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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) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 10 (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 | ||||||
Jacquemont, 2006 | France | aCGH | ASD | - | - | - | - | 29 | - | 29 | ||
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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