/open-access-regions

ICGC-ARGO Open-access regions definitions and bed files

Primary LanguagePythonGNU Affero General Public License v3.0AGPL-3.0

ICGC-ARGO Open-access Regions

ICGC-ARGO Open-access regions definitions and bed files

Definitions for Open-access Regions

  • Genomic elements are defined according to the definitions in the table based on GENCODE annotations v38
  • Open-access = CDS + Exon + UTR + Promoter + splice site + small ncRNA
  • Control-access = complementary regions of Open-access upon whole genome
Genomic Elements Definition Operation
Coding elements (CDS) The set of coding bases collapsed across all coding transcripts with a given GENCODE gene ID. feature_type=CDS
Exon The set of exon bases collapsed across all transcripts with a given GENCODE gene ID. feature_type=exon
5'UTR (UTR5) The set of 5’UTR bases collapsed across all coding transcripts with a given GENCODE gene ID. feature_type=UTR
3'UTR (UTR3) The set of 3’UTR bases collapsed across all coding transcripts with a given GENCODE gene ID. feature_type=UTR
Protein-coding promoter Regions extending 200 bases in upstreaming direction from all protein-coding transcripts’ transcription start sites (5’ ends).
Bases were collapsed across all coding transcripts with a given GENCODE gene ID.
feature_type=transcript
transcript_type=protein_coding
locate the TSS for each transcript
get the regions (-200, 0) upstreaming of TSS
Protein-coding splice site Intronic regions extending 6 bases from donor splice sites and 20 bases from acceptor splice sites were collected for all coding transcripts
Bases were collapsed across all coding transcripts with a given GENCODE gene ID.
feature_type=transcript
transcript_type=protein_coding
locate all the introns and donor/acceptor splice sites for each transcript
get the regions (-3,6) and (-20,3) around donor/acceptor splice sites
LncRNA lncRNA transcripts were defined based on annotations from GENCODE.
The elements were made by collapsing bases across transcripts with given GENCODE gene ID.
feature_type=transcript
transcript_type=lncRNA
LncRNA promoter Regions extending 200 bases in upstreaming direction from all lncRNA transcripts’ transcription start sites (5’ ends).
Bases were collapsed across all lncRNA transcripts with a given gene GENCODE ID.
feature_type=transcript
transcript_type=lncRNA
locate the TSS for each transcript
get the regions (-200,0) upstreaming of TSS
LncRNA splice site Intronic regions extending six bases from donor splice sites and 20 bases from acceptor splice sites were collected for all lncRNA transcripts.
Bases were collapsed across all lncRNA transcripts with a given gene GENCODE ID.
feature_type=transcript
transcript_type=lncRNA
locate all the introns and donor/acceptor splice sites for each transcript
get the regions (-3, 6) and (-20, 3) around donor/acceptor splice sites
smallRNA smallRNA transcripts were defined based on GENCODE transcripts with biotype: ['Mt_rRNA', 'Mt_tRNA', 'miRNA', 'misc_RNA', 'rRNA', 'scRNA', 'snRNA', 'snoRNA', 'ribozyme', 'sRNA', 'scaRNA'].
Bases were collapsed across all smallRNA transcripts with a given gene GENCODE ID.
feature_type=transcript
transcript_type in ['Mt_rRNA', 'Mt_tRNA', 'miRNA', 'misc_RNA', 'rRNA', 'scRNA', 'snRNA', 'snoRNA', 'ribozyme', 'sRNA', 'scaRNA']
smallRNA promoter Regions extending 200 bases in upstreaming direction from all smallRNA transcripts’ transcription start sites (5’ ends).
Bases were collapsed across all smallRNA transcripts with a given gene GENCODE ID.
feature_type=transcript
transcript_type in ['Mt_rRNA', 'Mt_tRNA', 'miRNA', 'misc_RNA', 'rRNA', 'scRNA', 'snRNA', 'snoRNA', 'ribozyme', 'sRNA', 'scaRNA']
locate the TSS for each transcript
get the regions (-200, 0) upstreaming of TSS

Script for generating Open-access bed files

Use default setting

cd script
./gtf_region.py

Script usage

./gtf_region.py -h
usage: gtf_region.py [-h] [-g GTF_DIR] [-u GTF_URL] [-v GTF_VERSION] [-l GLEN]
                     [-w WINDOW_SIZE] [-b BED_DIR] [-r REGIONS [REGIONS ...]]
                     [-o OPEN_ACCESS_REGIONS [OPEN_ACCESS_REGIONS ...]]

optional arguments:
  -h, --help            show this help message and exit
  -g GTF_DIR, --gtf_dir GTF_DIR
                        local directory for GTF file: only ENSEMBL or GENCODE GTF file accepted
  -u GTF_URL, --gtf_url GTF_URL
                        specify URL to download GTF file. Use GENCODE by default
  -v GTF_VERSION, --gtf_version GTF_VERSION
                        specify GTF release version to download
  -l GLEN, --glen GLEN  file for genome size
  -w WINDOW_SIZE, --window WINDOW_SIZE
                        the value of w in calculating TSS regions. Default: 200
  -b BED_DIR, --bed_dir BED_DIR
                        directory for output bed files
  -r REGIONS [REGIONS ...], --regions REGIONS [REGIONS ...]
                        specify regions to generate bed files
  -o OPEN_ACCESS_REGIONS [OPEN_ACCESS_REGIONS ...], --open_access_regions OPEN_ACCESS_REGIONS [OPEN_ACCESS_REGIONS ...]
                        specify regions to be included into open access tier

Bed files for Open-access Regions

  • You can find the generated bed files for Open-access Regions at your local folder data/hg38/bed/gencode.v**/. E.g.,
data/hg38/bed
└── gencode.v38
    ├── cds.gencode_v38.20210915.bed.gz
    ├── control_access.gencode_v38.20210915.bed.gz
    ├── exon.gencode_v38.20210915.bed.gz
    ├── intron.gencode_v38.20210915.bed.gz
    ├── lncRNA.gencode_v38.20210915.bed.gz
    ├── lncRNA_promoter.gencode_v38.20210915.bed.gz
    ├── lncRNA_splice_site.gencode_v38.20210915.bed.gz
    ├── open_access.gencode_v38.20210915.bed.gz
    ├── protein_coding.gencode_v38.20210915.bed.gz
    ├── protein_coding_promoter.gencode_v38.20210915.bed.gz
    ├── protein_coding_splice_site.gencode_v38.20210915.bed.gz
    ├── smallRNA.gencode_v38.20210915.bed.gz
    ├── smallRNA_promoter.gencode_v38.20210915.bed.gz
    ├── smallRNA_splice_site.gencode_v38.20210915.bed.gz
    ├── utr3.gencode_v38.20210915.bed.gz
    └── utr5.gencode_v38.20210915.bed.gz
  • Here each genomic element has its own bed file for example: exon.gencode_v**.{date}.bed.gz, smallRNA.gencode_v**.{date}.bed.gz, utr3.gencode_v**.{date}.bed.gz and etc.
  • open_access.gencode_v**.{date}.bed.gz contains the union of all the Open-access regions defined above.
  • control_access.gencode_v**.{date}.bed.gz contains the complementary regions of Open-access upon whole genome.
  • However ONLY open_access.gencode_v**.{date}.bed.gz are kept in git.