AutismKB 2.0

Evidence Details for SMPD3


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Basic Information Top
Gene Symbol:SMPD3 ( FLJ22593,MGC138443,NSMASE2 )
Gene Full Name: sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
Band: 16q22.1
Quick LinksEntrez ID:55512; OMIM: 605777; Uniprot ID:NSMA2_HUMAN; ENSEMBL ID: ENSG00000103056; HGNC ID: 14240
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMPD3|55512|nucleotide
ATGGTTTTGTACACGACCCCCTTTCCTAACAGCTGTCTGTCCGCCCTGCACTGTGTGTCCTGGGCCCTTATCTTTCCATGCTACTGGCTGGTGGACCGGCTCGCT
GCCTCCTTCATACCCACCACCTACGAGAAGCGCCAGCGGGCAGACGACCCGTGCTGCCTGCAGCTGCTCTGCACTGCCCTCTTCACGCCCATCTACCTGGCCCTC
CTGGTGGCCTCGCTGCCCTTTGCGTTTCTCGGCTTTCTCTTCTGGTCCCCACTGCAGTCGGCCCGCCGGCCCTACATCTATTCACGGCTGGAAGACAAGGGCCTG
GCCGGTGGGGCAGCCCTGCTCAGTGAATGGAAGGGCACGGGGCCTGGCAAAAGCTTCTGCTTTGCCACTGCCAACGTCTGCCTCCTGCCCGACTCACTCGCCAGG
GTCAACAACCTTTTTAACACCCAAGCGCGGGCCAAGGAGATCGGGCAGAGAATCCGCAATGGGGCCGCCCGGCCCCAGATCAAAATTTACATCGACTCCCCCACC
AATACCTCCATCAGCGCCGCTAGCTTCAGCAGCCTGGTGTCACCACAGGGCGGCGATGGGGTGGCCCGGGCCGTCCCCGGGAGCATTAAGAGGACAGCCTCTGTG
GAGTACAAGGGTGACGGTGGGCGGCACCCCGGTGACGAGGCTGCCAACGGCCCAGCCTCTGGGGACCCTGTCGACAGCAGCAGCCCGGAGGATGCCTGCATCGTG
CGCATCGGTGGCGAGGAGGGCGGCCGGCCACCTGAAGCTGACGACCCTGTGCCTGGGGGCCAGGCCAGGAACGGAGCTGGCGGGGGCCCAAGGGGCCAGACGCCC
AACCATAATCAGCAGGACGGGGATTCAGGGAGCCTGGGCAGCCCCTCGGCCTCCCGGGAGTCCCTGGTGAAGGGGCGAGCTGGGCCAGACACCAGTGCCAGCGGG
GAGCCAGGTGCCAACAGCAAGCTCCTGTACAAGGCCTCGGTGGTGAAGAAGGCGGCTGCACGCAGGAGGCGGCACCCCGACGAGGCCTTCGACCATGAGGTCTCC
GCCTTCTTCCCCGCCAACCTGGACTTCCTGTGCCTGCAGGAGGTGTTTGACAAGCGAGCAGCCACCAAATTGAAAGAGCAGCTGCACGGCTACTTCGAGTACATC
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>SMPD3|55512|protein
MVLYTTPFPNSCLSALHCVSWALIFPCYWLVDRLAASFIPTTYEKRQRADDPCCLQLLCTALFTPIYLALLVASLPFAFLGFLFWSPLQSARRPYIYSRLEDKGL
AGGAALLSEWKGTGPGKSFCFATANVCLLPDSLARVNNLFNTQARAKEIGQRIRNGAARPQIKIYIDSPTNTSISAASFSSLVSPQGGDGVARAVPGSIKRTASV
EYKGDGGRHPGDEAANGPASGDPVDSSSPEDACIVRIGGEEGGRPPEADDPVPGGQARNGAGGGPRGQTPNHNQQDGDSGSLGSPSASRESLVKGRAGPDTSASG
EPGANSKLLYKASVVKKAAARRRRHPDEAFDHEVSAFFPANLDFLCLQEVFDKRAATKLKEQLHGYFEYILYDVGVYGCQGCCSFKCLNSGLLFASRYPIMDVAY
HCYPNKCNDDALASKGALFLKVQVGSTPQDQRIVGYIACTHLHAPQEDSAIRCGQLDLLQDWLADFRKSTSSSSAANPEELVAFDVVCGDFNFDNCSSDDKLEQQ
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top