EMC8

ER membrane protein complex subunit 8, the group of ER membrane protein complex subunits

Basic information

Region (hg38): 16:85771757-85799608

Previous symbols: [ "C16orf4", "NOC4", "C16orf2", "COX4NB" ]

Links

ENSG00000131148 ∙ NCBI:10328 ∙ OMIM:604886 ∙ HGNC:7864 ∙ Uniprot:O43402 ∙ 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 EMC8 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EMC8 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in EMC8

This is a list of pathogenic ClinVar variants found in the EMC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-85779800-C-T		not specified	Uncertain significance (Dec 27, 2023)
16-85779823-G-A		not specified	Uncertain significance (Oct 12, 2022)
16-85779847-G-A		not specified	Uncertain significance (Feb 22, 2023)
16-85781225-T-G		not specified	Uncertain significance (Jun 23, 2023)
16-85789028-T-C		not specified	Uncertain significance (Feb 27, 2023)
16-85799139-G-A		not specified	Uncertain significance (Oct 26, 2022)
16-85799141-G-A		not specified	Uncertain significance (Dec 19, 2023)
16-85799157-G-A		not specified	Uncertain significance (Aug 13, 2021)
16-85799187-G-A		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EMC8	protein_coding	protein_coding	ENST00000253457	5	27851

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.852	0.147	123183	0	1	123184	0.00000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.623	113	133	0.848	0.00000764	1385
Missense in Polyphen		27	41.654	0.6482		485
Synonymous	-1.26	71	58.7	1.21	0.00000394	394
Loss of Function	2.74	1	10.7	0.0938	5.39e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000907	0.00000907
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.147
• hipred: Y
• hipred_score: 0.507
• ghis: 0.652

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Emc8
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Cellular component: nucleus;cytoplasm;mitochondrion;cytosol;membrane;ER membrane protein complex
• Molecular function: protein binding