AutismKB 2.0

Evidence Details for SIK1


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Basic Information Top
Gene Symbol:SIK1 ( MSK,SIK,SNF1LK )
Gene Full Name: salt-inducible kinase 1
Band: 21q22.3
Quick LinksEntrez 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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>SIK1|150094|protein
MVIMSEFSADPAGQGQGQQKPLRVGFYDIERTLGKGNFAVVKLARHRVTKTQVAIKIIDKTRLDSSNLEKIYREVQLMKLLNHPHIIKLYQVMETKDMLYIVTEF
AKNGEMFDYLTSNGHLSENEARKKFWQILSAVEYCHDHHIVHRDLKTENLLLDGNMDIKLADFGFGNFYKSGEPLSTWCGSPPYAAPEVFEGKEYEGPQLDIWSL
GVVLYVLVCGSLPFDGPNLPTLRQRVLEGRFRIPFFMSQDCESLIRRMLVVDPARRITIAQIRQHRWMRAEPCLPGPACPAFSAHSYTSNLGDYDEQALGIMQTL
GVDRQRTVESLQNSSYNHFAAIYYLLLERLKEYRNAQCARPGPARQPRPRSSDLSGLEVPQEGLSTDPFRPALLCPQPQTLVQSVLQAEMDCELQSSLQWPLFFP
VDASCSGVFRPRPVSPSSLLDTAISEEARQGPGLEEEQDTQESLPSSTGRRHTLAEVSTRLSPLTAPCIVVSPSTTASPAEGTSSDSCLTFSASKSPAGLSGTPA
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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 (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 aCGHASD - - - - 29 - 29
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top