AutismKB 2.0

Evidence Details for DEFB110


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Basic Information Top
Gene Symbol:DEFB110 ( DEFB-10,DEFB-11,DEFB111,MGC183056,MGC190230 )
Gene Full Name: defensin, beta 110
Band: 6p12.3
Quick LinksEntrez ID:245913; OMIM: NA; Uniprot ID:DB110_HUMAN; ENSEMBL ID: ENSG00000203970; HGNC ID: 18091
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DEFB110|245913|nucleotide
ATGAAGATTCAACTTTTTTTCTTTATTCTGCACTTTTGGGTCACAATTTTACCAGCCAAAAAGAAATATCCTGAGTATGGTAGCTTGGACTTGAGGAGAGAGTGC
AGAATAGGTAATGGTCAATGTAAAAATCAGTGTCATGAAAATGAAATTAGGATTGCTTACTGCATAAGACCTGGAACTCATTGCTGCTTGCAGCAGTAA









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>DEFB110|245913|protein
MKIQLFFFILHFWVTILPAKKKYPEYGSLDLRRECRIGNGQCKNQCHENEIRIAYCIRPGTHCCLQQ




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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 (0) 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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top