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ERCC4 (DNA repair endonuclease XPF) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Myeloproliferative neoplasms and 4 more.
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair.
CIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.61, literature 0.98, genetic association 0.63, somatic mutation 0.98).
In plain words · ERCC4 (DNA repair endonuclease XPF) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Myeloproliferative neoplasms and 4 more.
ERCC4 (DNA repair endonuclease XPF) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Myeloproliferative neoplasms and 4 more.
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair.
No product in this corpus aims at ERCC4 yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
Germline variant: UniProt lists Xeroderma pigmentosum complementation group F (XP-F) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA ERCC4: RNA tissue enhanced (skeletal muscle 17 nTPM); high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Skin cancer (all types), Myeloid neoplasms, Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (xeroderma pigmentosum group F, acute myeloid leukemia). (Rule 2 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q92889; Human Protein Atlas ERCC4 tissue; Open Targets ENSG00000175595 associations
First described 1996. Earliest sequence paper UniProt cites for the protein: Brookman K.W. et al, Mol. Cell. Biol, 1996, "ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs". Source.
Sources: HGNC HGNC:3436 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q92889 (protein name, function text, keywords and locations (REST API)); CIViC gene ERCC4 (3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)); Open Targets ENSG00000175595 (association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.54, acute myeloid leukaemia 0.53, skin cancer 0.55, myeloproliferative neoplasm 0.54, leukaemia 0.60 (GraphQL API, CC0))
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. Location: Nucleus; Chromosome (UniProt). Locus 16p13.12 (HGNC).
RNA: tissue enhanced (skeletal muscle 17 nTPM), detected in all normal tissues.
Medium: Adipose tissue, Adrenal gland, Breast, Cervix, Endometrium, Fallopian tube, Heart muscle, Hippocampus.
Medium only: carcinoid, colorectal cancer, endometrial cancer, glioma.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"ERCC4" OR ABSTRACT:"ERCC4" OR TITLE:"ERCC excision repair 4, endonuclease catalytic subunit" OR ABSTRACT:"ERCC excision repair 4, endonuclease catalytic subunit" OR TITLE:"DNA repair endonuclease XPF" OR ABSTRACT:"DNA repair endonuclease XPF" OR TITLE:"RAD1" OR ABSTRACT:"RAD1" OR TITLE:"FANCQ" OR ABSTRACT:"FANCQ") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ERCC4, not a curated reading list.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, Acute myeloid leukaemia.