diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json index 27c55305..7fcdeb59 100644 --- a/data/STRchive-loci.json +++ b/data/STRchive-loci.json @@ -4670,4 +4670,68 @@ "disease_tags": [], "references": ["pmid:38714868", "pmid:38714869", "omim:609893"], "additional_literature": [] +}, +{ + "chrom": "chr18", + "start_hg38": 666891, + "stop_hg38": 667632, + "start_hg19": 666891, + "stop_hg19": 667632, + "start_t2t": 821216, + "stop_t2t": 821905, + "id": "CPUM_TYMS", + "disease_id": "CPUM", + "gene_strand": "-", + "reference_motif_reference_orientation": ["GATGGT"], + "pathogenic_motif_reference_orientation": ["GATGGT"], + "pathogenic_motif_gene_orientation": ["ACCATC"], + "benign_motif_reference_orientation": [], + "benign_motif_gene_orientation": [], + "unknown_motif_reference_orientation": [], + "unknown_motif_gene_orientation": [], + "disease": "Congenital Progressive Universal Melanosis", + "gene": "TYMS", + "flank_motif": null, + "locus_structure": "(GATGGT)*", + "inheritance": ["AR"], + "type": "Non-coding", + "location_in_gene": "Intron 3", + "benign_min": 42, + "benign_max": 172, + "intermediate_min": null, + "intermediate_max": null, + "pathogenic_min": 210, + "pathogenic_max": 259, + "ref_copies": null, + "motif_len": 6, + "age_onset": "0 (birth) [@doi:10.3892/br.2025.2016]", + "age_onset_min": 0.0, + "age_onset_max": 0.0, + "typ_age_onset_min": null, + "typ_age_onset_max": null, + "novel": "ref", + "mechanism": "LoF", + "mechanism_detail": "Proposed mechanism involves repeat expansions in non-coding regions of the gene, reducing expression in melanocytes or keratinocytes, leading to a disruption in nucleotide balance in DNA repair and hyperpigmentation. Missense mutations disrupt nucleotide metabolsim, resulting in loss-of-function and genome instability [@doi:10.3892/br.2025.2016].", + "source": [], + "details": "A study has identified an intronic GATGGT hexanucleotide tandem repeat in the TYMS gene. Both parents were found to be heterozygous carriers of the expansion, suggesting a recessive inheritance pattern [@doi:10.3892/br.2025.2016].", + "omim": [], + "prevalence": null, + "prevalence_details": "Found in two monozygotic twins in Thailand [@doi:10.3892/br.2025.2016].", + "stripy": [], + "gnomad": ["TYMS"], + "genereviews": [], + "mondo": [], + "year": "2025 [@doi:10.3892/br.2025.2016]", + "medgen": [], + "orphanet": [], + "gard": [], + "malacard": [], + "webstr_hg38": [], + "webstr_hg19": [], + "tr_atlas": [], + "disease_description": "CPUM is characterized by progressive widespread hyperpigmentation beginning at birth without accompanying symptoms. Studied children with CPUM have been born to unaffected parents. The children studied have been born with diffuse, universal, and progressive hyperpigmentaion at 15 years of age. At this time the hyperpigmentation had fully progressed [@doi:10.3892/br.2025.2016].", + "locus_tags": ["sparse_evidence"], + "disease_tags": [], + "references": ["@doi:10.3892/br.2025.2016"], + "additional_literature": [] }]