C11orf21

chromosome 11 open reading frame 21

Basic information

Region (hg38): 11:2295627-2303049

Links

ENSG00000110665 ∙ NCBI:29125 ∙ OMIM:611033 ∙ HGNC:13231 ∙ Uniprot:Q9P2W6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C11orf21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C11orf21 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2	2		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	2	0

Variants in C11orf21

This is a list of pathogenic ClinVar variants found in the C11orf21 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-2299544-C-T		not specified	Uncertain significance (Oct 06, 2021)
11-2299692-T-C		not specified	Uncertain significance (Oct 06, 2021)
11-2300760-G-A		not specified	Likely benign (Oct 29, 2021)
11-2301768-G-A		not specified	Likely benign (Aug 02, 2021)
11-2302174-G-T		not specified	Uncertain significance (Mar 29, 2023)
11-2302865-A-T		not specified	Uncertain significance (Jun 07, 2024)
11-2302889-G-T		not specified	Uncertain significance (Jun 23, 2023)
11-2302893-C-T		not specified	Uncertain significance (Feb 05, 2024)
11-2302910-C-T		not specified	Uncertain significance (Aug 15, 2023)
11-2302914-G-T		not specified	Uncertain significance (May 10, 2023)
11-2302943-G-C		not specified	Uncertain significance (Apr 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C11orf21	protein_coding	protein_coding	ENST00000456145	4	7405

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0164	0.894	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.979	76	104	0.730	0.00000594	1095
Missense in Polyphen		8	14.76	0.54202		140
Synonymous	0.492	40	44.2	0.906	0.00000278	396
Loss of Function	1.43	4	8.49	0.471	3.61e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.88
• rvis_percentile_EVS: 88.96

Haploinsufficiency Scores

• pHI: 0.124

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Cellular component: cytoplasm