C16orf92

chromosome 16 open reading frame 92

Basic information

Region (hg38): 16:30023198-30027736

Links

ENSG00000167194 ∙ NCBI:146378 ∙ OMIM:618911 ∙ HGNC:26346 ∙ Uniprot:Q96LL3 ∙ 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 C16orf92 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C16orf92 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in C16orf92

This is a list of pathogenic ClinVar variants found in the C16orf92 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30023790-G-A		Neutropenia;Lymphopenia	Likely benign (-)
16-30023868-T-A		not specified	Uncertain significance (Aug 11, 2021)
16-30025211-G-A		not specified	Uncertain significance (Sep 02, 2024)
16-30025221-G-A		not specified	Uncertain significance (Apr 06, 2024)
16-30025236-G-A		not specified	Uncertain significance (Mar 25, 2024)
16-30025293-C-T		not specified	Uncertain significance (Oct 19, 2024)
16-30025358-C-T		not specified	Uncertain significance (Oct 16, 2024)
16-30025460-T-C		not specified	Uncertain significance (Jun 27, 2023)
16-30026700-G-A		not specified	Uncertain significance (Dec 08, 2023)
16-30026709-G-A		not specified	Uncertain significance (Sep 12, 2023)
16-30026712-G-A		not specified	Uncertain significance (Dec 16, 2023)
16-30026721-G-A		not specified	Likely benign (Mar 21, 2023)
16-30026725-C-T		not specified	Uncertain significance (Feb 28, 2024)
16-30026728-C-T		not specified	Uncertain significance (Jun 28, 2023)
16-30026781-G-A		not specified	Uncertain significance (Jun 28, 2024)
16-30026818-GC-G		Cone-rod dystrophy 22	Pathogenic (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C16orf92	protein_coding	protein_coding	ENST00000300575	4	4403

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0324	0.829	124694	0	29	124723	0.000116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.161	76	80.0	0.949	0.00000460	845
Missense in Polyphen		19	19.545	0.97213		199
Synonymous	0.551	29	33.0	0.878	0.00000210	279
Loss of Function	1.16	3	6.11	0.491	3.24e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000840	0.000840
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

• loftool: 0.578
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.153

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: 4930451I11Rik

Gene ontology

• Cellular component: integral component of membrane