AutismKB 2.0

Evidence Details for BRSK1


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Basic Information Top
Gene Symbol:BRSK1 ( FLJ43009,KIAA1811 )
Gene Full Name: BR serine/threonine kinase 1
Band: 19q13.42
Quick LinksEntrez ID:84446; OMIM: 609235; Uniprot ID:BRSK1_HUMAN; ENSEMBL ID: ENSG00000160469; HGNC ID: 18994
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BRSK1|84446|nucleotide
ATGTCGTCCGGGGCCAAGGAGGGAGGTGGGGGCTCTCCCGCCTACCACCTCCCCCACCCCCACCCCCACCCACCCCAGCACGCCCAATATGTGGGCCCCTATCGG
CTGGAGAAGACGCTGGGCAAAGGACAGACAGGGCTGGTTAAACTCGGGGTCCACTGCATCACGGGTCAGAAGGTCGCCATCAAGATCGTGAACCGGGAGAAGCTG
TCGGAGTCGGTGCTGATGAAGGTGGAGCGGGAGATCGCCATCCTGAAGCTCATCGAACACCCACATGTCCTCAAGCTCCACGACGTCTACGAGAACAAGAAATAT
TTGTACCTGGTTCTGGAGCACGTCTCGGGGGGTGAGCTATTCGACTACCTGGTAAAGAAGGGGAGACTGACGCCCAAGGAGGCCCGAAAGTTCTTCCGCCAGATT
GTGTCTGCGCTGGACTTCTGCCACAGCTACTCCATCTGCCACAGAGACCTAAAGCCCGAGAACCTGCTTTTGGATGAGAAAAACAACATCCGCATTGCAGACTTC
GGCATGGCGTCCCTGCAGGTGGGGGACAGCCTCCTGGAGACCAGCTGCGGGTCCCCCCATTATGCGTGTCCAGAGGTGATTAAGGGGGAAAAATATGATGGCCGC
CGGGCAGACATGTGGAGCTGTGGAGTCATCCTCTTCGCCCTGCTCGTGGGGGCTCTGCCCTTTGATGACGACAACCTCCGCCAGCTGCTGGAGAAGGTGAAACGG
GGCGTCTTCCACATGCCCCACTTCATTCCTCCAGATTGCCAGAGCCTCCTGAGGGGAATGATCGAAGTGGAGCCCGAAAAAAGGCTCAGTCTGGAGCAAATTCAG
AAACATCCTTGGTACCTAGGCGGGAAACACGAGCCAGACCCGTGCCTGGAGCCAGCCCCTGGCCGCCGGGTAGCCATGCGGAGCCTGCCATCCAACGGAGAGCTG
GACCCCGACGTCCTAGAGAGCATGGCATCACTGGGCTGCTTCAGGGACCGCGAGAGGCTGCATCGCGAGCTGCGCAGTGAGGAGGAGAACCAAGAAAAGATGATA
TATTATCTGCTTTTGGATCGGAAGGAGCGGTATCCCAGCTGTGAGGACCAGGACCTGCCTCCCCGGAATGATGTTGACCCCCCCCGGAAGCGTGTGGATTCTCCC
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>BRSK1|84446|protein
MSSGAKEGGGGSPAYHLPHPHPHPPQHAQYVGPYRLEKTLGKGQTGLVKLGVHCITGQKVAIKIVNREKLSESVLMKVEREIAILKLIEHPHVLKLHDVYENKKY
LYLVLEHVSGGELFDYLVKKGRLTPKEARKFFRQIVSALDFCHSYSICHRDLKPENLLLDEKNNIRIADFGMASLQVGDSLLETSCGSPHYACPEVIKGEKYDGR
RADMWSCGVILFALLVGALPFDDDNLRQLLEKVKRGVFHMPHFIPPDCQSLLRGMIEVEPEKRLSLEQIQKHPWYLGGKHEPDPCLEPAPGRRVAMRSLPSNGEL
DPDVLESMASLGCFRDRERLHRELRSEEENQEKMIYYLLLDRKERYPSCEDQDLPPRNDVDPPRKRVDSPMLSRHGKRRPERKSMEVLSITDAGGGGSPVPTRRA
LEMAQHSQRSRSVSGASTGLSSSPLSSPRSPVFSFSPEPGAGDEARGGGSPTSKTQTLPSRGPRGGGAGEQPPPPSARSTPLPGPPGSPRSSGGTPLHSPLHTPR
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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) 1 (2) 1 (1) 0 (0) 1 (1) 1 (2) 0 (0) 0 (0) 0 (0) 15 (6)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top