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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in BIVM-ERCC5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 29

1,963 rare PASS variants

Rare truncating (LoF)

1 in 560

290 rare PASS variants

Rare synonymous (reference)

1 in 62

750 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BIVM-ERCC5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 40	1 in 610
South Asian	~43k	1 in 31	1 in 280
Remaining (unassigned)	~30k	1 in 27	1 in 650
European (Finnish)	~27k	1 in 120	1 in 850
Admixed American	~22k	1 in 29	1 in 620
African / African American	~21k	1 in 26	1 in 730
East Asian	~20k	1 in 24	1 in 330
Ashkenazi Jewish	~13k	1 in 76	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 24	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 23 coding exons well covered in gnomAD exomes and genomes.? see exons ↓