Exact(10)
However, the vast majority of sequence variants map to non-coding intergenic and intronic regions, and it has been much more challenging to assess the functional nature of these variants.
Overall, the majority of variants map to transcripts in both genesets.
Both associated variants map to an intergenic region of 6q23, between the OLIG3 and TNFAIP3 genes.
The associated variants map to the 5′ and promoter region of the AFF3 gene, which is strongly conserved in evolution and is preferentially expressed in lymphoid cells (16).
Eight of these 16 variants map to the linkage region and cosegregation in the family was determined by Sanger resequencing of individual amplicons.
All four variants map to the transcriptional activation domain (TAD) and the putative interaction site for RNA polymerase II, RNA helicase A, and multiple transcription factors [ 1].
Similar(50)
SLC22A5 has previously been reported to be associated with IBD25, whereas previous psoriasis reports relating to chromosome 5q31 have focused on variants mapping to the IL13 gene.
In summary, using an extensive functional analysis of BRCA1 variants mapping to the C-terminal domain of the protein we show that functional assays are robust tools to clinically annotate variants even in the absence of additional data, in the sense that their accuracy matches or surpasses current medical tests.
Variants mapping to the STAT4 gene did show evidence for association (rs7574865, P = 0.04).
MSV3d currently contains more than 445 574 missense variants mapped to 20 199 human proteins.
Only genetic variants mapping to coding and splice site regions were considered causative.
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