AutismKB 2.0

Evidence Details for SMPD4


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Basic Information Top
Gene Symbol:SMPD4 ( FLJ20297,FLJ20756,KIAA1418,NET13,NSMASE-3,NSMASE3 )
Gene Full Name: sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
Band: 2q21.1
Quick LinksEntrez ID:55627; OMIM: 610457; Uniprot ID:NSMA3_HUMAN; ENSEMBL ID: ENSG00000136699; HGNC ID: 32949
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMPD4|55627|nucleotide
ATGACGACTTTCGGCGCCGTGGCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCA
CTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATAAATAAGCCCTTTGCACAGCAGTGCCAAGAC
TTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGGGTCCTGTGAAGGCGTCCATCCAGGAGTGCATCCTCCCTGACAGTCCTCTGTACCACAACAAGGTCCAGTTC
ACCCCTACTGGGGGCCTTGGTCTGAACTTGGCCCTGAATCCGTTCGAGTATTACATATTCTTCTTTGCCTTGAGCCTCATCACTCAGAAGCCACTTCCTGTGTCC
CTCCACGTCCGTACTTCAGACTGTGCCTATTTCATCCTGGTGGACAGGTACCTGTCATGGTTCCTGCCCACCGAAGGCAGTGTGCCCCCACCACTCTCCTCCAGC
CCAGGGGGGACCAGCCCCTCACCACCTCCCAGGACACCAGCCATACCCTTTGCTTCCTATGGCCTCCACCACACTAGCCTCCTAAAGCGACACATCTCTCATCAG
ACGTCTGTGAATGCAGACCCCGCCTCCCACGAGATCTGGAGGTCAGAAACTCTGCTCCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTAT
CAAAAAATGCAGTCCCCTCATGCCAAGGAGTCGTTCACGCCTACTGAGGAGCATGTGTTGGTGGTGCGCCTGCTGCTGAAGCACCTGCACGCCTTTGCCAACAGC
CTGAAGCCAGAGCAGGCCTCACCCTCCGCCCACTCCCACGCCACCAGCCCCCTGGAGGAGTTCAAACGGGCTGCTGTCCCGAGGTTCGTCCAGCAGAAACTCTAC
CTCTTCTTGCAGCATTGCTTTGGCCACTGGCCCCTGGACGCATCGTTCAGAGCTGTCCTGGAGATGTGGCTGAGCTACCTGCAGCCGTGGCGGTACGCGCCTGAC
AAGCAGGCTCCGGGCAGCGACTCCCAGCCCCGGTGTGTGTCGGAGAAATGGGCACCCTTTGTCCAGGAGAACCTGCTGATGTACACCAAGTTGTTTGTGGGCTTT
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>SMPD4|55627|protein
MTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVIEDFPAKGPVKASIQECILPDSPLYHNKVQF
TPTGGLGLNLALNPFEYYIFFFALSLITQKPLPVSLHVRTSDCAYFILVDRYLSWFLPTEGSVPPPLSSSPGGTSPSPPPRTPAIPFASYGLHHTSLLKRHISHQ
TSVNADPASHEIWRSETLLQVFVEMWLHHYSLEMYQKMQSPHAKESFTPTEEHVLVVRLLLKHLHAFANSLKPEQASPSAHSHATSPLEEFKRAAVPRFVQQKLY
LFLQHCFGHWPLDASFRAVLEMWLSYLQPWRYAPDKQAPGSDSQPRCVSEKWAPFVQENLLMYTKLFVGFLNRALRTDLVSPKHALMVFRVAKVFAQPNLAEMIQ
KGEQLFLEPELVIPHRQHRLFTAPTFTGSFLSPWPPAVTDASFKVKSHVYSLEGQDCKYTPMFGPEARTLVLRLAQLITQAKHTAKSISDQCAESPAGHSFLSWL
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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 (1) 0 (0) 0 (0) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top