the reduction ofAGKTAD boundary level made the transcriptional active elements sparser in the adjacent space, contributing to lower AGK expression. TheAGKgene encodes a mitochondrial membrane protein involved in
The cellular landscape of the human intestinal tract is dynamic throughout life, developing in utero and changing in response to functional requirements and environmental exposures. Here, to comprehensively map cell lineages, we use single-cell RNA seque
Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it to analyze the GTEx dataset, gen
A.: “Promoter analysis of the human ubiquitin-conjugating enzyme gene family UBE1LI-4, including UBE2L3 which encodes UbcH7 - Ardley, Moynihan, et al. - 2000Ardley et al. 00) Ardley, H. C., Moynihan, T. P., Markham, A. F., Robinson, P. A. (2000) Promoter analysis of the ...
Fig. 1: Chaperones are broadly expressed across human tissues. a The distribution of 194 chaperones, 130 non-stress-induced chaperones and 17,689 other protein-coding genes by the number of tissues expressing them at a level ≥1 transcripts per million (TPM; the first bin represents genes expr...
Arrows indicate primer sites in parental gene transcripts. (C) The expressions of CTCL in indicated cell populations were quantified by qPCR. Data were presented as mean ± SEM of three biological repeats. (D) RT-PCR analysis for the expression of CTCL in fetal cortex of human (GW14.5) and...
by mining GTEx and the Human Protein Atlas (HPA) (“Methods”). Varying the selectivity expression thresholds (expressed in transcripts per million (TPM)) used to filter out genes whose mean expression across the normal adult tissues is above values of 10, 5, 2, 1, 0.5, and 0.25 (i.e...
Human cancer genomes harbour a variety of alterations leading to the deregulation of key pathways in tumour cells. The genomic characterization of tumours has uncovered numerous genes recurrently mutated, deleted or amplified, but gene fusions have not been characterized as extensively. Here we develop...
We also found that in the intron-rich human genome, gene fusions and intragenic duplications extensively use intronic breakpoints generating in-frame proteins, in accordance with the theory of exon shuffling. Finally, we found that only a small proportion of complete or partial duplicates are at ...
gene and the density of the dot corresponds to average expression relative to all cell types. Umap displaying gene expressions ofCLDN10,CLDN16,S100A2orUMOD(right).cRepresentative immunohistochemical images of KCNJ10 or PTH1R (brown) and UMOD or SLC12A1 (blue) in the adult human kidneys. ...