AutismKB 2.0

Evidence Details for SBNO1


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Basic Information Top
Gene Symbol:SBNO1 ( FLJ10701,FLJ10833,FLJ14066,FLJ16176,FLJ35199,MOP3,Sno )
Gene Full Name: strawberry notch homolog 1 (Drosophila)
Band: 12q24.31
Quick LinksEntrez ID:55206; OMIM: NA; Uniprot ID:SBNO1_HUMAN; ENSEMBL ID: ENSG00000139697; HGNC ID: 22973
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SBNO1|55206|nucleotide
ATGGTGGAGCCAGGGCAAGATTTACTGCTTGCTGCTTTGAGTGAGAGTGGAATTAGTCCGAATGACCTCTTTGATATTGATGGTGGAGATGCAGGGCTTGCAACT
CCAATGCCTACCCCGTCAGTTCAGCAGTCAGTGCCACTTAGTGCATTAGAACTAGGTTTGGAGACCGAAGCAGCAGTTCCTGTTAAACAAGAACCAGAGACTGTA
CCTACTCCAGCACTATTAAATGTGAGGCAGCAGCCTCCATCTACTACAACATTTGTGCTGAATCAAATAAATCATCTTCCACCCTTGGGATCTACAATTGTAATG
ACTAAAACACCACCTGTAACAACCAACAGGCAAACCATCACTTTAACTAAGTTTATCCAGACTACTGCAAGCACACGCCCGTCAGTCTCAGCACCAACAGTACGA
AATGCCATGACCTCTGCACCTTCAAAAGACCAAGTTCAGCTTAAAGATCTACTGAAAAATAATAGTCTTAATGAACTGATGAAACTAAAGCCACCTGCTAATATT
GCTCAGCCAGTAGCAACAGCAGCTACTGATGTAAGCAATGGTACAGTAAAGAAAGAGTCTTCTAATAAAGAAGGAGCTAGAATGTGGATAAACGACATGAAGATG
AGGAGTTTTTCCCCAACCATGAAGGTTCCTGTTGTAAAAGAAGATGATGAACCAGAGGAAGAAGATGAAGAAGAAATGGGTCATGCAGAAACCTATGCAGAATAC
ATGCCAATAAAATTAAAAATTGGCCTACGTCATCCAGATGCTGTAGTGGAAACCAGCTCTTTATCCAGTGTTACTCCTCCTGATGTTTGGTACAAAACATCCATT
TCTGAGGAAACCATTGATAATGGCTGGTTATCAGCATTGCAGCTTGAGGCAATTACATATGCAGCCCAGCAACATGAAACTTTCCTACCTAATGGAGATCGTGCT
GGCTTCTTAATAGGTGATGGTGCCGGTGTAGGAAAAGGAAGGACGATAGCAGGAATCATCTATGAAAATTATTTGTTGAGTAGAAAACGAGCATTGTGGTTTAGT
GTTTCAAATGACTTAAAGTATGATGCTGAAAGAGATTTAAGGGATATTGGAGCAAAAAACATTTTGGTTCATTCGTTAAATAAGTTTAAATACGGAAAAATTTCT
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>SBNO1|55206|protein
MVEPGQDLLLAALSESGISPNDLFDIDGGDAGLATPMPTPSVQQSVPLSALELGLETEAAVPVKQEPETVPTPALLNVRQQPPSTTTFVLNQINHLPPLGSTIVM
TKTPPVTTNRQTITLTKFIQTTASTRPSVSAPTVRNAMTSAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGTVKKESSNKEGARMWINDMKM
RSFSPTMKVPVVKEDDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAITYAAQQHETFLPNGDRA
GFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQ
LLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDM
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top