AutismKB 2.0

Evidence Details for SPNS3


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Basic Information Top
Gene Symbol:SPNS3 ( MGC29671 )
Gene Full Name: spinster homolog 3 (Drosophila)
Band: 17p13.2
Quick LinksEntrez ID:201305; OMIM: 611701; Uniprot ID:SPNS3_HUMAN; ENSEMBL ID: ENSG00000182557; HGNC ID: 28433
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPNS3|201305|nucleotide
ATGGCTGGGGGGATGTCAGCGGAGTGCCCTGAGCCTGGGCCAGGAGGTCTGCAGGGCCAGTCCCCAGGGCCAGGCAGGCAGTGTCCCCCTCCCATCACGCCCACC
TCCTGGAGCCTGCCCCCGTGGAGGGCCTACGTGGCTGCCGCCGTCCTCTGCTACATCAACCTCCTGAATTACATGAACTGGTTCATCATTGCAGGAGTGCTGCTG
GATATACAGGAGGTTTTCCAGATCAGTGACAACCATGCTGGTTTGCTTCAGACTGTCTTCGTTAGCTGCCTGCTGCTGTCTGCACCTGTGTTTGGCTACCTGGGC
GACCGACATAGCCGCAAGGCTACCATGAGCTTCGGTATCTTGCTGTGGTCAGGAGCTGGCCTCTCTAGCTCCTTCATCTCCCCCCGGTATTCTTGGCTCTTCTTC
CTGTCCCGGGGCATCGTGGGCACTGGCTCGGCCAGCTACTCCACCATCGCGCCCACCGTCCTGGGCGACCTCTTCGTGAGGGACCAGCGCACCCGCGTGCTGGCT
GTCTTCTACATCTTTATCCCCGTTGGAAGTGGTCTGGGCTACGTGCTGGGGTCGGCTGTGACGATGCTGACTGGGAACTGGCGCTGGGCCCTCCGAGTCATGCCC
TGCCTGGAGGCCGTGGCCTTGATCCTGCTTATCCTGCTGGTTCCAGACCCACCCCGGGGAGCTGCCGAGACACAGGGGGAGGGGGCCGTGGGAGGCTTCAGGAGC
AGCTGGTGTGAGGACGTCAGATACCTGGGGAAAAACTGGAGTTTCGTGTGGTCGACCCTCGGAGTGACCGCCATGGCCTTTGTGACTGGAGCCCTGGGGTTCTGG
GCCCCCAAGTTTCTGCTCGAGGCACGCGTGGTTCACGGGCTGCAGCCTCCCTGCTTCCAGGAGCCGTGCAGCAACCCCGACAGCCTGATTTTTGGGGCACTGACC
ATCATGACCGGCGTCATTGGGGTCATCTTGGGGGCAGAAGCTGCGAGGAGGTACAAGAAAGTCATTCCAGGAGCTGAGCCCCTCATCTGCGCCTCCAGCCTGCTT
GCCACAGCCCCCTGCCTCTACCTGGCTCTCGTCCTGGCCCCGACCACCCTGCTGGCCTCCTATGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGG
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>SPNS3|201305|protein
MAGGMSAECPEPGPGGLQGQSPGPGRQCPPPITPTSWSLPPWRAYVAAAVLCYINLLNYMNWFIIAGVLLDIQEVFQISDNHAGLLQTVFVSCLLLSAPVFGYLG
DRHSRKATMSFGILLWSGAGLSSSFISPRYSWLFFLSRGIVGTGSASYSTIAPTVLGDLFVRDQRTRVLAVFYIFIPVGSGLGYVLGSAVTMLTGNWRWALRVMP
CLEAVALILLILLVPDPPRGAAETQGEGAVGGFRSSWCEDVRYLGKNWSFVWSTLGVTAMAFVTGALGFWAPKFLLEARVVHGLQPPCFQEPCSNPDSLIFGALT
IMTGVIGVILGAEAARRYKKVIPGAEPLICASSLLATAPCLYLALVLAPTTLLASYVFLGLGELLLSCNWAVVADILLSVVVPRCRGTAEALQITVGHILGDAGS
PYLTGLISSVLRARRPDSYLQRFRSLQQSFLCCAFVIALGGGCFLLTALYLERDETRAWQPVTGTPDSNDVDSNDLERQGLLSGAGASTEEP
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top