ERG28

ergosterol biosynthesis 28 homolog

Basic information

Region (hg38): 14:75649791-75660876

Previous symbols: [ "C14orf1" ]

Links

ENSG00000133935 ∙ NCBI:11161 ∙ OMIM:604576 ∙ HGNC:1187 ∙ Uniprot:Q9UKR5 ∙ 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 ERG28 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERG28 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 ERG28

This is a list of pathogenic ClinVar variants found in the ERG28 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-75657495-C-T		not specified	Uncertain significance (Jul 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERG28	protein_coding	protein_coding	ENST00000256319	4	11399

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.239	0.732	125740	0	5	125745	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.39	47	82.7	0.569	0.00000484	900
Missense in Polyphen		12	31.868	0.37656		314
Synonymous	0.203	31	32.5	0.955	0.00000170	294
Loss of Function	1.83	2	7.38	0.271	4.99e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.156

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.418
• hipred: Y
• hipred_score: 0.685
• ghis: 0.669

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Erg28

Gene ontology

• Biological process: ergosterol biosynthetic process;biological_process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;transport vesicle
• Molecular function: molecular_function;protein binding, bridging