hg38_exon_chrom_size: Human GRCh38 Chromosome-Level Exon Target Sizes

hg38_exon_chrom_sizeR Documentation

Human GRCh38 Chromosome-Level Exon Target Sizes

Description

A chromosome-level summary of the total annotated exon target size in the human GRCh38 genome assembly. For each chromosome, the exon lengths from the selected representative transcript of every annotated gene were combined to provide the chromosome-wide exonic search space used in GRIN2 exon-level probability calculations.

Representative transcripts were defined as the MANE Select transcript for protein-coding genes and the Ensembl canonical transcript for non-protein-coding genes.

Usage

data(hg38_exon_chrom_size)

Format

A data frame with one row per chromosome and 2 columns:

chrom

Chromosome identifier.

size

Total annotated exon target size on the chromosome in base pairs, calculated by aggregating the lengths of all exons from the representative transcript selected for each gene. Representative transcripts correspond to the MANE Select transcript for protein-coding genes and the Ensembl canonical transcript for non-protein-coding genes. This value represents the chromosome-wide exonic target space used in GRIN2 exon-level probability calculations.

Details

This dataset provides the chromosome-level denominator used for lesion types designated for exon-level analysis in GRIN2. It represents the total exonic target space on each chromosome and is therefore distinct from example_exon_annotation, which contains exon coordinates for only a subset of genes used in package examples.

The dataset should be used together with exon annotations generated from the same genome assembly and representative-transcript selection procedure.

Source

Derived from human GRCh38 exon annotations retrieved from the Ensembl BioMart database using get.ensembl.annotation(). Exons were obtained from the MANE Select transcript for protein-coding genes and the Ensembl canonical transcript for non-protein-coding genes. Exon lengths were aggregated for all genes on each chromosome.


GRIN2 documentation built on Aug. 22, 2026, 5:09 p.m.