ERP27

endoplasmic reticulum protein 27, the group of Protein disulfide isomerases

Basic information

Region (hg38): 12:14914039-14938537

Previous symbols: [ "C12orf46" ]

Links

ENSG00000139055 ∙ NCBI:121506 ∙ OMIM:610642 ∙ HGNC:26495 ∙ Uniprot:Q96DN0 ∙ 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 ERP27 gene.

• not_specified (37 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERP27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152321.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			36	1		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERP27	protein_coding	protein_coding	ENST00000266397	7	25048

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-12	0.00633	125660	0	88	125748	0.000350

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.403	163	149	1.09	0.00000747	1810
Missense in Polyphen		46	39.655	1.16		542
Synonymous	-1.75	74	57.2	1.29	0.00000322	511
Loss of Function	-1.07	16	12.0	1.33	5.07e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00373	0.00244
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Photodynamic therapy-induced unfolded protein response (Consensus)

Recessive Scores

• pRec: 0.0786

Intolerance Scores

• loftool: 0.776
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.0871
• hipred: N
• hipred_score: 0.298
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00274

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Erp27

Gene ontology

• Biological process: protein folding;peptidyl-proline hydroxylation;response to endoplasmic reticulum stress
• Cellular component: endoplasmic reticulum;endoplasmic reticulum lumen
• Molecular function: protein disulfide isomerase activity;protein binding