sjcab_peak2anno

sjcab_peak2anno annotates genomic peak BED files to nearby genes, genomic features, and chromatin states.

The package provides both peak2anno and sjcab-peak2anno command-line entry points. It requires sjcab_peak2anno_db==0.1.8 and an external bedtools executable available in PATH when installed with pip.

For conda installations, use the St. Jude CAB channel:

conda install -c stjudecab sjcab_peak2anno sjcab_peak2anno_db=0.1.8 bedtools pybedtools

Configuration defaults

The command reads the first existing rc file from this order:

1. $SJCAB_PEAK2ANNO_CONFIG when set
2. $XDG_CONFIG_HOME/sjcab_peak2anno/.sjcab_peak2anno.rc
3. ~/.sjcab_peak2anno.rc

The rc file uses simple shell-style NAME=VALUE lines. Environment variables with the same names override rc values, and command-line options override both. Supported settings are:

SJCAB_PEAK2ANNO_DB_PATH=~/.sjcab_peak2anno_db
SJCAB_PEAK2ANNO_SPECIES_VERSIONS=hg38:v31
SJCAB_PEAK2ANNO_PROM_ENHA_CUTOFFS=2kb,50kb,2kb
SJCAB_PEAK2ANNO_GENE_TYPE=all
SJCAB_PEAK2ANNO_ISO_SET=all
SJCAB_PEAK2ANNO_2FEATURE_OUT=max
SJCAB_PEAK2ANNO_2STATE_OUT=max,percent

SJCAB_PEAK2ANNO_SPECIES_VERSIONS accepts comma-separated pairs such as hg38:v31,mm10:vM22. The selected species determines the default --ver. Gene commands use --prom-enha-cutoffs promoterup,enhancer,promoterdown. The third value may be omitted, in which case promoter-up is reused. Values such as gene0.5 mean 50% of the gene length, while transcript2 means twice the transcript length in BED column 5. Species/version-specific defaults use case-sensitive keys such as SJCAB_PEAK2ANNO_PROM_ENHA_CUTOFFS_hg38_v31. GENE_TYPE supplies the default for --gene-type, and ISO_SET supplies the default for --iso. 2FEATURE_OUT and 2STATE_OUT accept max, percent, max,percent, or percent,max; their defaults are max and max,percent, respectively.

See docs/peak2anno.md for command examples.

Install with pip

Install bedtools separately and make sure it is on PATH:

bedtools --version
python -m pip install sjcab_peak2anno

To install from a source checkout with test support:

python -m pip install -e ".[test]"
python -m pytest -q

Install with conda

conda install -c stjudecab sjcab_peak2anno sjcab_peak2anno_db=0.1.8 bedtools pybedtools

Test from a source checkout

The minimal test command is:

python -m pytest -q

If the package is not installed, use the source tree directly:

PYTHONPATH=src python -m pytest -q

Smoke test after installation

The repository includes the minimal BED fixtures tests_data/peaks.bed and tests_data/tss.bed. After installing the package, run:

bedtools --version
peak2anno peak2gene tests_data/peaks.bed \
  --tss-bed tests_data/tss.bed \
  --prom-enha-cutoffs 100bp,3kb \
  --output /tmp/peak2anno-smoke.tsv
cat /tmp/peak2anno-smoke.tsv

The same command is available through the alternate CLI name:

sjcab-peak2anno peak2gene tests_data/peaks.bed \
  --tss-bed tests_data/tss.bed \
  --output /tmp/sjcab-peak2anno-smoke.tsv

Minimal files

For a source installation, keep these files and directories:

pyproject.toml
README.md
src/peak2anno/
tests/
tests_data/peaks.bed
tests_data/tss.bed

Runtime annotation data comes from the separately installed sjcab_peak2anno_db==0.1.8 package or from --db-path/SJCAB_PEAK2ANNO_DB_PATH.

Output and run log

-o/--output is optional. If it is omitted, the main annotation table is written to stdout, so it can be piped to another command. Use --summary summary.tsv if a feature/state summary is also needed without a main output file.

Every CLI run appends its command line and resolved input/reference files to .run.log in the current directory. For example:

peak2anno peak2gene tests_data/peaks.bed \
  --tss-bed tests_data/tss.bed > /tmp/peak2anno.tsv
cat .run.log

Input formats and columns

All single-region commands accept BED-like input or region-text input.

BED input defaults to columns 0, 1, and 2 for chromosome, start, and end:

chr1    100    200    peak_a

Use --columns 2,4,5 when the BED coordinates are in different zero-based columns. Use --input-format bed to force BED parsing.

Region-text input defaults to column 0 and accepts delimiters including :, -, *, =, /, ^, ;, _, %, $, and ,:

region
chr1:100-200
chr2^300=450

Use --input-format txt, --input-format txtnohead, --region-column 1, and --header yes when needed. Every command accepts either a positional input or the shorter -i/--input form. --input-format auto is the default and detects the form from the first row.

Output formats

Use --output-format with auto, bed, txt, or txtnohead:

• auto (default): follows the detected input format: BED becomes BED, headered region text becomes txt, and headerless region text becomes txtnohead.
• txt: tab-delimited output with a header.
• txtnohead: tab-delimited output without a header.
• bed: BED-style chromosome/start/end output without a header. For loop commands, use bedpe as the equivalent BEDPE output mode.

Examples:

peak2anno peak2gene tests_data/peaks.bed --tss-bed tests_data/tss.bed \
  --output result.tsv --output-format txt
peak2anno peak2gene tests_data/peaks.bed --tss-bed tests_data/tss.bed \
  --output result.bed --output-format bed
peak2anno peak2gene tests_data/peaks.bed --tss-bed tests_data/tss.bed \
  --output result.tsv --output-format txtnohead

Combining annotations

Multiple single-region annotations can be run once and merged into one table. The concise syntax accepts consecutive subcommands:

peak2anno peak2gene narrow2feature peaks.bed \
  --tss-bed tests_data/tss.bed \
  --feature-dir annotations/hg38 \
  --output combined.tsv --workers 2

The equivalent explicit syntax is:

peak2anno combined \
  --commands peak2gene \
  --commands narrow2feature \
  peaks.bed --tss-bed tests_data/tss.bed \
  --feature-dir annotations/hg38 --output combined.tsv

The combined implementation reuses the same input and reference settings for each annotation. --workers N runs independent annotation steps in up to N processes; the default is 1. The final merge preserves the input row order.

Loop/BEDPE commands

loop2gene, loop2feature, and loop2state accept BEDPE. By default, the first anchor uses columns 0-2 and the second anchor uses columns 3-5:

chr1    100    200    chr1    900    1000    loop_a

Use --loop-columns 0,1,2,6,7,8 for another six-column layout. Each anchor is annotated independently and the result contains anchor1_... and anchor2_... columns.

Examples:

peak2anno loop2gene loops.bedpe --tss-bed tests_data/tss.bed \
  --output loops.annotated.tsv
peak2anno loop2feature loops.bedpe --feature-dir annotations/hg38 \
  --output loops.feature.tsv --feature-mode broad
peak2anno loop2state loops.bedpe --states states.bed \
  --output loops.states.bedpe --output-format bedpe

Gene-type filters

peak2gene --gene-type filters on BED column 9:

• all (default): include every gene type; column 9 is not required.
• protein_coding: include only protein-coding genes.
• lincRNA: include only long intergenic non-coding RNA genes.
• nomicro: use the built-in St. Jude CAB non-micro gene set, including protein-coding, lincRNA, macro lncRNA, processed/transcribed pseudogenes, processed transcripts, and bidirectional promoter lncRNAs.
• type1,type2: provide a comma-separated custom set of BED column 9 values.

When a filter other than all is used, the selected gene BED must contain a gene type in column 9.

Feature database lookup

narrow2feature and broad2feature automatically search the database root from --db-path, $SJCAB_PEAK2ANNO_DB_PATH, or ~/.sjcab_peak2anno_db when --feature-dir is omitted. They look for the standard feature files such as 2kb.promoter.up.bed and 2kb.exon.bed under <db>/<species>/features or a versioned species directory. Use -c/--feature-dir to override this lookup.

Missing database references

If the selected --species/--ver reference is not available, the command prints the exact sjcab-peak2anno-db command it proposes and asks: Install database files now? [y/N]: Type y or yes to run it and retry the annotation; any other answer leaves the run unchanged. For the default version, the proposal is sjcab-peak2anno-db install-bed; for an explicit version it is sjcab-peak2anno-db download-bed SPECIES VERSION. Feature commands propose sjcab-peak2anno-db install gencode-feature. An explicit --tss-bed, --gene-bed, or --feature-dir is never replaced automatically. In a pipe or other non-interactive session installation is declined safely.