AutismKB 2.0

Evidence Details for SEMA3D


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Basic Information Top
Gene Symbol:SEMA3D ( MGC39708,Sema-Z2,coll-2 )
Gene Full Name: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
Band: 7q21.11
Quick LinksEntrez ID:223117; OMIM: 609907; Uniprot ID:SEM3D_HUMAN; ENSEMBL ID: ENSG00000153993; HGNC ID: 10726
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEMA3D|223117|nucleotide
ATGAATGCTAATAAAGATGAAAGACTTAAAGCCAGAAGCCAAGATTTTCACCTTTTTCCTGCTTTGATGATGCTAAGCATGACCATGTTGTTTCTTCCAGTCACT
GGCACTTTGAAGCAAAATATTCCAAGACTCAAGCTAACCTACAAAGACTTGCTGCTTTCAAATAGCTGTATTCCCTTTTTGGGTTCATCAGAAGGACTGGATTTT
CAAACTCTTCTCTTAGATGAGGAAAGAGGCAGGCTGCTCTTGGGAGCCAAAGACCACATCTTTCTACTCAGTCTGGTTGACTTAAACAAAAATTTTAAGAAGATT
TATTGGCCTGCTGCAAAGGAACGGGTGGAATTATGTAAATTAGCTGGGAAAGATGCCAATACAGAATGTGCAAATTTCATCAGAGTACTTCAGCCCTATAACAAA
ACTCACATATATGTGTGTGGAACTGGAGCATTTCATCCAATATGTGGGTATATTGATCTTGGAGTCTACAAGGAGGATATTATATTCAAACTAGACACACATAAT
TTGGAGTCTGGCAGACTGAAATGTCCTTTCGATCCTCAGCAGCCTTTTGCTTCAGTAATGACAGATGAGTACCTCTACTCTGGAACAGCTTCTGATTTCCTTGGC
AAAGATACTGCATTCACTCGATCCCTTGGGCCTACTCATGACCACCACTACATCAGAACTGACATTTCAGAGCACTACTGGCTCAATGGAGCAAAATTTATTGGA
ACTTTCTTCATACCAGACACCTACAATCCAGATGATGATAAAATATATTTCTTCTTTCGTGAATCATCTCAAGAAGGCAGTACCTCCGATAAAACCATCCTTTCT
CGAGTTGGAAGAGTTTGTAAGAATGATGTAGGAGGACAACGCAGCCTGATAAACAAGTGGACGACTTTTCTTAAGGCCAGACTGATTTGCTCAATTCCTGGAAGT
GATGGGGCAGATACTTACTTTGATGAGCTTCAAGATATTTATTTACTCCCCACAAGAGATGAAAGAAATCCTGTAGTATATGGAGTCTTTACTACAACCAGCTCC
ATCTTCAAAGGCTCTGCTGTTTGTGTGTATAGCATGGCTGACATCAGAGCAGTTTTTAATGGTCCATATGCTCATAAGGAAAGTGCAGACCATCGTTGGGTGCAG
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>SEMA3D|223117|protein
MNANKDERLKARSQDFHLFPALMMLSMTMLFLPVTGTLKQNIPRLKLTYKDLLLSNSCIPFLGSSEGLDFQTLLLDEERGRLLLGAKDHIFLLSLVDLNKNFKKI
YWPAAKERVELCKLAGKDANTECANFIRVLQPYNKTHIYVCGTGAFHPICGYIDLGVYKEDIIFKLDTHNLESGRLKCPFDPQQPFASVMTDEYLYSGTASDFLG
KDTAFTRSLGPTHDHHYIRTDISEHYWLNGAKFIGTFFIPDTYNPDDDKIYFFFRESSQEGSTSDKTILSRVGRVCKNDVGGQRSLINKWTTFLKARLICSIPGS
DGADTYFDELQDIYLLPTRDERNPVVYGVFTTTSSIFKGSAVCVYSMADIRAVFNGPYAHKESADHRWVQYDGRIPYPRPGTCPSKTYDPLIKSTRDFPDDVISF
IKRHSVMYKSVYPVAGGPTFKRINVDYRLTQIVVDHVIAEDGQYDVMFLGTDIGTVLKVVSISKEKWNMEEVVLEELQIFKHSSIILNMELSLKQQQLYIGSRDG
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top