BIVM-ERCC5

Chr 13

BIVM-ERCC5 readthrough

Also known as: ERCC5-202

This fusion protein combines sequences from BIVM (basic immunoglobulin-like variable motif containing protein) and ERCC5 (a DNA repair endonuclease involved in nucleotide excision repair). Mutations cause xeroderma pigmentosum complementation group G, characterized by extreme sun sensitivity, neurodegeneration, and developmental abnormalities, with autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants, reflecting its critical role in DNA repair processes.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

LOEUF 0.69

Clinical Summary— BIVM-ERCC5

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Some data sources returned errors (1)

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