AutismKB 2.0

Evidence Details for SPRED3


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Basic Information Top
Gene Symbol:SPRED3 ( Eve-3 )
Gene Full Name: sprouty-related, EVH1 domain containing 3
Band: 19q13
Quick LinksEntrez ID:399473; OMIM: 609293; Uniprot ID:SPRE3_HUMAN; ENSEMBL ID: ENSG00000188766; HGNC ID: 31041
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPRED3|399473|nucleotide
ATGGTGCGGGTCCGAGCTGTGGTGATGGCCCGAGATGACTCCAGTGGGGGCTGGCTGCCTGTGGGGGGCGGGGGCCTCAGCCAGGTGAGCGTGTGTCGGGTCCGA
GGGGCCAGGCCCGAGGGGGGGGCCCGCCAGGGGCACTACGTCATCCACGGGGAACGCCTCCGGGACCAGAAAACAACCTTGGAGTGTACACTGAAGCCAGGCTTG
GTTTACAACAAGGTGAATCCCATCTTTCACCACTGGAGCCTGGGTGACTGCAAGTTTGGACTGACGTTTCAGAGCCCTGCAGAGGCTGATGAGTTCCAGAAGAGC
CTGCTGGCTGCGCTGGCCGCACTGGGTCGAGGCTCACTCACCCCCTCCTCCTCCTCCTCCTCCTCCTCTCCTTCCCAGGATACTGCAGAGACCCCCTGCCCTCTG
ACGCTCTCCCAGTACTTCAGGCATATGCTGTGCCCTTGA






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>SPRED3|399473|protein
MVRVRAVVMARDDSSGGWLPVGGGGLSQVSVCRVRGARPEGGARQGHYVIHGERLRDQKTTLECTLKPGLVYNKVNPIFHHWSLGDCKFGLTFQSPAEADEFQKS
LLAALAALGRGSLTPSSSSSSSSPSQDTAETPCPLTLSQYFRHMLCP



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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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top