C11orf16

chromosome 11 open reading frame 16

Basic information

Region (hg38): 11:8920076-8933006

Links

ENSG00000176029 ∙ NCBI:56673 ∙ ∙ HGNC:1169 ∙ Uniprot:Q9NQ32 ∙ 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 C11orf16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C11orf16 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				1		1
missense			4			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	4	1	0

Variants in C11orf16

This is a list of pathogenic ClinVar variants found in the C11orf16 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-8921512-G-C		not specified	Uncertain significance (Aug 10, 2021)
11-8925587-C-T		not specified	Uncertain significance (Aug 02, 2021)
11-8926019-G-A			Likely benign (Sep 01, 2024)
11-8926054-C-G		not specified	Uncertain significance (Nov 15, 2021)
11-8927161-C-G		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C11orf16	protein_coding	protein_coding	ENST00000326053	5	12931

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.32e-14	0.0130	123729	112	1907	125748	0.00806

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.384	266	249	1.07	0.0000130	2980
Missense in Polyphen		61	54.158	1.1263		762
Synonymous	-0.714	111	102	1.09	0.00000586	964
Loss of Function	-0.196	20	19.1	1.05	8.22e-7	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.117	0.116
Ashkenazi Jewish	0.00456	0.00457
East Asian	0.000331	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000390	0.000387
Middle Eastern	0.000331	0.000326
South Asian	0.000686	0.000686
Other	0.00293	0.00294

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.892
• rvis_EVS: 1.6
• rvis_percentile_EVS: 95.89

Haploinsufficiency Scores

• pHI: 0.190
• hipred: N
• hipred_score: 0.123

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: BC051019