C14orf93

chromosome 14 open reading frame 93

Basic information

Region (hg38): 14:22985893-23010166

Links

ENSG00000100802 ∙ NCBI:60686 ∙ ∙ HGNC:20162 ∙ Uniprot:Q9H972 ∙ 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 C14orf93 gene.

• Inborn genetic diseases (4 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C14orf93 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					2	2
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	4	1	2

Variants in C14orf93

This is a list of pathogenic ClinVar variants found in the C14orf93 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-22987325-C-T		not specified	Uncertain significance (Jul 15, 2021)
14-22987481-G-A		not specified	Uncertain significance (Sep 17, 2021)
14-22987503-G-A			Benign (Apr 04, 2018)
14-22996012-G-C		not specified	Uncertain significance (Sep 16, 2021)
14-22998491-T-A			Likely benign (Oct 01, 2023)
14-22998879-T-A		not specified	Uncertain significance (Oct 14, 2021)
14-22998919-G-A			Benign (Jun 26, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C14orf93	protein_coding	protein_coding	ENST00000299088	6	23266

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0109	0.987	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	256	315	0.813	0.0000183	3481
Missense in Polyphen		135	176.04	0.76689		2153
Synonymous	1.20	106	123	0.862	0.00000660	1130
Loss of Function	2.74	7	20.4	0.344	0.00000118	232

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000366	0.000366
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000137	0.000132
Middle Eastern	0.00	0.00
South Asian	0.000819	0.000686
Other	0.000184	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.863
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.54

Haploinsufficiency Scores

• pHI: 0.354
• hipred: N
• hipred_score: 0.385
• ghis: 0.502

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: 4931414P19Rik

Gene ontology

• Cellular component: extracellular region
• Molecular function: RNA binding;protein binding