Documentation

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Publication Details

Results for Wang2016:

Summary

Title	De novo genic mutations among a Chinese autism spectrum disorder cohort
Authors	Wang, T., Guo, H., Xiong, B., Stessman, H.A.F., Wu, H., Coe, B.P., Turner, T.N., Liu, Y., Zhao, W., Hoekzema, K., Vives, L., Xia, L., Tang, M., Ou, J., Chen, B., Shen, Y., Xun, G., Long, M., Lin, J., Kronenberg, Z.N., Peng, Y., Bai, T., Li, H., Ke, X., Hu
Technology	Molecular inversion probe (189 genes)
Variant source	Supplementary Data 4. LGD and MIS30 mutations identified in ACGC by MIPs; Supplementary Data 5. Validated rare missense variants (with CADD score ≤ 30) in the 29 genes with DN mutation(s) identified in ACGC
Cohorts	State Key Laboratory of Medical Genetics of China
Design	Simplex/Unknown
URL	https://dx.doi.org/10.1038/ncomms13316
Pubmed	27824329
Subject count	604 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	770
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	26
frameshift insertion	3
frameshift substitution	8
nonframeshift deletion	2
nonsynonymous SNV	658
other	4
splicing	20
stopgain	46
stoploss	2
synonymous SNV	1

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.