C11ORF98

Chr 11

chromosome 11 open reading frame 98

Also known as: C11orf48, RSMC

NCBI Gene: 102288414 ENSG00000278615 UniProt: E9PRG8

This gene shares three exons in common with another gene, LBH domain containing 1 (GeneID:79081), but the encoded protein uses a reading frame that is different from that of the LBH domain containing 1 gene. [provided by RefSeq, Nov 2017]

Research

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 C11ORF98?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 440

221 rare PASS variants

Rare truncating (LoF)

1 in 2,500

49 rare PASS variants

Rare synonymous (reference)

1 in 530

80 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C11ORF98. 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 610	1 in 3,600
South Asian	~43k	1 in 190	1 in 3,600
Remaining (unassigned)	~30k	1 in 270	1 in 2,900
European (Finnish)	~27k	1 in 1,700	1 in 730
Admixed American	~22k	1 in 300	≈ 1 in 7,500
African / African American	~21k	1 in 230	1 in 3,400
East Asian	~20k	1 in 320	1 in 710
Ashkenazi Jewish	~13k	1 in 870	≈ 1 in 13,000
Middle Eastern	~2,884	≈ 1 in 720	none seen

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 1 poorly covered. Genomes: all 4.? see exons ↓