C11orf98

protein-coding

chromosome 11 open reading frame 98

Gene summary

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]

Previous symbols:

C11orf48

MANE transcript

NM_001286086.2

Inheritance

—

ClinVar variants

U:18B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr11:62,662,817-62,665,210

External References & Databases

Ensembl (ENSG00000278615)

NCBI Gene (102288414)

Transcript & Mutation Effects

hg38 • Region Span ~2.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to C11orf98 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 16

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001286086.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			5 clinvar	1 clinvar		6
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	18	1	0	19

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001286086.2	RefSeq	NP_001273015.1	4	MANE Select
ENST00000524958.6	Ensembl	ENSP00000432523.2	4	MANE Select
ENST00000525675.1	Ensembl	ENSP00000432316.1	3	Standard
ENST00000525675.2	Ensembl	ENSP00000432316.1	3	Standard

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.59
RVIS percentile EVS: 82.51