C14orf28

chromosome 14 open reading frame 28

Basic information

Region (hg38): 14:44897275-44907257

Links

ENSG00000179476 ∙ NCBI:122525 ∙ ∙ HGNC:19834 ∙ Uniprot:Q4W4Y0 ∙ 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 C14orf28 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C14orf28 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			2		3	5
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	0	4

Variants in C14orf28

This is a list of pathogenic ClinVar variants found in the C14orf28 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-44900633-A-G			Benign (Apr 16, 2018)
14-44900878-C-T		not specified	Uncertain significance (Aug 13, 2021)
14-44903212-C-T			Benign (Dec 31, 2019)
14-44904481-C-T			Benign (Jun 26, 2018)
14-44905461-C-T		not specified	Uncertain significance (Oct 12, 2021)
14-44905544-G-T			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C14orf28	protein_coding	protein_coding	ENST00000325192	4	9963

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.22e-10	0.0731	125609	0	132	125741	0.000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.277	147	157	0.938	0.00000739	2049
Missense in Polyphen		43	46.043	0.9339		574
Synonymous	-0.423	60	56.0	1.07	0.00000252	559
Loss of Function	0.0586	15	15.2	0.984	9.48e-7	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000450	0.000445
Ashkenazi Jewish	0.00	0.00
East Asian	0.00118	0.00114
Finnish	0.00	0.00
European (Non-Finnish)	0.000194	0.000185
Middle Eastern	0.00118	0.00114
South Asian	0.00256	0.00255
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.669
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.540
• hipred: N
• hipred_score: 0.282
• ghis: 0.481

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: Gm527