Published February 4, 2021
| Version v1
Journal article
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RNA-seq count and proteomics intensity data used in the Kopajtich, Smirnov, Stenton et al study
- 1. 1 Institute of Human Genetics, Technische Universität München, Munich, Germany 2 Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany
Description
File description:
- raw_data
- proteomics_annotation: sample annotation.
- proteomics_not_normalized: Proteomics intensity matrix, gene IDs (names).
- proteingroups_not_normalized: Proteomics intensity matrix, Uniprot IDs.
- raw_counts: RNA-seq count matrix.
- Patient_HPO_phenotypes: Phenotype data recorded using HPO terms for genetically diagnosed cases.
- enrichment_proportions_variants: Results of rare variant enrichment/proportion analysis calculated on the full dataset.
- patient_variant_hpo_data: Gene annotation for all individuals from the study. Since the genetic data are not publicly shareable, we provide only gene-level information for outlier genes only.
- datasets
- disease_genes: List of Mendelian disease genes aggregated from several studies.
- HGNC_mito_groups: Subset of HGNC gene groups related to mitochondria.
- hgnc_mapping: mapping between Uniprot IDs and gene names
- FRASER_counts--hg19--gencode34
- geneCounts: gene-level counts.
- k_j: split counts spanning from one exon to another.
- k_theta: non-split counts covering a splice site.
- n_psi3: total split counts from a given acceptor site.
- n_psi5: total split counts from a given donor site.
- n_theta: total split and non-split counts for a given splice site.
- Sample annotation describing each sample from the dataset.
- Description file with global information from the dataset.
Tissue: Fibroblast, NHDF cell line
Organism: Homo sapiens
Genome assembly: hg19
Gene annotation: gencode29 / gencode34 / Uniprot
Dataset contact: Holger Prokisch, prokisch@helmholtz-muenchen.de; Dmitrii Smirnov, dmitrii.smirnov@helmholtz-muenchen.de
Citation: Cite both the resource using Zenodo's citation and the publication under References