"""Official MSigDB Hallmark (h.all) collection brief descriptions — all 50 gene sets. Source: MSigDB Hallmark collection (Liberzon et al. 2015, Cell Systems), brief descriptions as published by the Broad Institute. MSigDB is free under CC-BY 4.0 — attribute the Broad Institute. Gene-set names verified against the official GMT: https://data.broadinstitute.org/gsea-msigdb/msigdb/release/2023.2.Hs/h.all.v2023.2.Hs.symbols.gmt This module exists so the asset build (`scripts/build_embeddings.py`) is fully offline and reproducible without R/msigdbr. `scripts/build_descriptions.R` documents the msigdbr regeneration path. """ HALLMARK_DESCRIPTIONS: dict[str, str] = { "HALLMARK_ADIPOGENESIS": "Genes up-regulated during adipocyte differentiation (adipogenesis).", "HALLMARK_ALLOGRAFT_REJECTION": "Genes up-regulated during transplant rejection.", "HALLMARK_ANDROGEN_RESPONSE": "Genes defining response to androgens.", "HALLMARK_ANGIOGENESIS": "Genes up-regulated during formation of blood vessels (angiogenesis).", "HALLMARK_APICAL_JUNCTION": "Genes encoding components of apical junction complex.", "HALLMARK_APICAL_SURFACE": "Genes encoding proteins over-represented on the apical surface of epithelial cells, e.g., important for cell polarity (apical area).", "HALLMARK_APOPTOSIS": "Genes mediating programmed cell death (apoptosis) by activation of caspases.", "HALLMARK_BILE_ACID_METABOLISM": "Genes involve in metabolism of bile acids and salts.", "HALLMARK_CHOLESTEROL_HOMEOSTASIS": "Genes involved in cholesterol homeostasis.", "HALLMARK_COAGULATION": "Genes encoding components of blood coagulation system; also up-regulated in platelets.", "HALLMARK_COMPLEMENT": "Genes encoding components of the complement system, which is part of the innate immune system.", "HALLMARK_DNA_REPAIR": "Genes involved in DNA repair.", "HALLMARK_E2F_TARGETS": "Genes encoding cell cycle related targets of E2F transcription factors.", "HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION": "Genes defining epithelial-mesenchymal transition, as in wound healing, fibrosis and metastasis.", "HALLMARK_ESTROGEN_RESPONSE_EARLY": "Genes defining early response to estrogen.", "HALLMARK_ESTROGEN_RESPONSE_LATE": "Genes defining late response to estrogen.", "HALLMARK_FATTY_ACID_METABOLISM": "Genes encoding proteins involved in metabolism of fatty acids.", "HALLMARK_G2M_CHECKPOINT": "Genes involved in the G2/M checkpoint, as in progression through the cell division cycle.", "HALLMARK_GLYCOLYSIS": "Genes encoding proteins involved in glycolysis and gluconeogenesis.", "HALLMARK_HEDGEHOG_SIGNALING": "Genes up-regulated by activation of hedgehog signaling.", "HALLMARK_HEME_METABOLISM": "Genes involved in metabolism of heme (a cofactor consisting of iron and porphyrin) and erythroblast differentiation.", "HALLMARK_HYPOXIA": "Genes up-regulated in response to low oxygen levels (hypoxia).", "HALLMARK_IL2_STAT5_SIGNALING": "Genes up-regulated by STAT5 in response to IL2 stimulation.", "HALLMARK_IL6_JAK_STAT3_SIGNALING": "Genes up-regulated by IL6 via STAT3, e.g., during acute phase response.", "HALLMARK_INFLAMMATORY_RESPONSE": "Genes defining inflammatory response.", "HALLMARK_INTERFERON_ALPHA_RESPONSE": "Genes up-regulated in response to alpha interferon proteins.", "HALLMARK_INTERFERON_GAMMA_RESPONSE": "Genes up-regulated in response to IFNG.", "HALLMARK_KRAS_SIGNALING_DN": "Genes down-regulated by KRAS activation.", "HALLMARK_KRAS_SIGNALING_UP": "Genes up-regulated by KRAS activation.", "HALLMARK_MITOTIC_SPINDLE": "Genes important for mitotic spindle assembly.", "HALLMARK_MTORC1_SIGNALING": "Genes up-regulated through activation of mTORC1 complex.", "HALLMARK_MYC_TARGETS_V1": "A subgroup of genes regulated by MYC - version 1 (v1).", "HALLMARK_MYC_TARGETS_V2": "A subgroup of genes regulated by MYC - version 2 (v2).", "HALLMARK_MYOGENESIS": "Genes involved in development of skeletal muscle (myogenesis).", "HALLMARK_NOTCH_SIGNALING": "Genes up-regulated by activation of Notch signaling.", "HALLMARK_OXIDATIVE_PHOSPHORYLATION": "Genes encoding proteins involved in oxidative phosphorylation.", "HALLMARK_P53_PATHWAY": "Genes involved in p53 pathways and networks.", "HALLMARK_PANCREAS_BETA_CELLS": "Genes specifically up-regulated in pancreatic beta cells.", "HALLMARK_PEROXISOME": "Genes encoding components of peroxisome, e.g., for the import, biogenesis, and metabolic functions of the organelle.", "HALLMARK_PI3K_AKT_MTOR_SIGNALING": "Genes up-regulated by activation of the PI3K/AKT/mTOR pathway.", "HALLMARK_PROTEIN_SECRETION": "Genes involved in protein secretion pathway.", "HALLMARK_REACTIVE_OXYGEN_SPECIES_PATHWAY": "Genes up-regulated by reactive oxygen species (ROS).", "HALLMARK_SPERMATOGENESIS": "Genes up-regulated during production of male gametes (sperm), as in spermatogenesis.", "HALLMARK_TGF_BETA_SIGNALING": "Genes up-regulated in response to TGFB1.", "HALLMARK_TNFA_SIGNALING_VIA_NFKB": "Genes regulated by NF-kB in response to TNF.", "HALLMARK_UNFOLDED_PROTEIN_RESPONSE": "Genes up-regulated during unfolded protein response, a cellular stress response related to the endoplasmic reticulum.", "HALLMARK_UV_RESPONSE_DN": "Genes down-regulated in response to ultraviolet (UV) radiation.", "HALLMARK_UV_RESPONSE_UP": "Genes up-regulated in response to ultraviolet (UV) radiation.", "HALLMARK_WNT_BETA_CATENIN_SIGNALING": "Genes up-regulated by activation of WNT signaling through accumulation of beta catenin CTNNB1.", "HALLMARK_XENOBIOTIC_METABOLISM": "Genes encoding proteins involved in processing of drugs and other xenobiotics.", } assert len(HALLMARK_DESCRIPTIONS) == 50, f"expected 50 hallmarks, got {len(HALLMARK_DESCRIPTIONS)}"