EMC8

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

Basic information

Region (hg38): 16:85771758-85799608

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

Links

ENSG00000131148NCBI:10328OMIM:604886HGNC:7864Uniprot:O43402AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EMC8 gene.

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
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 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
16-85779743-G-T not specified Uncertain significance (May 12, 2024)3275275
16-85779800-C-T not specified Uncertain significance (Dec 27, 2023)3088557
16-85779823-G-A not specified Uncertain significance (Oct 12, 2022)2349907
16-85779847-G-A not specified Uncertain significance (Feb 22, 2023)2487877
16-85781225-T-G not specified Uncertain significance (Jun 23, 2023)2596511
16-85789028-T-C not specified Uncertain significance (Feb 27, 2023)2489627
16-85799139-G-A not specified Uncertain significance (Oct 26, 2022)2320665
16-85799141-G-A not specified Uncertain significance (Dec 19, 2023)3088555
16-85799157-G-A not specified Uncertain significance (Aug 13, 2021)2206021
16-85799187-G-A not specified Uncertain significance (Mar 07, 2024)3088554

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EMC8protein_codingprotein_codingENST00000253457 527851
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8520.147123183011231840.00000406
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6231131330.8480.000007641385
Missense in Polyphen2741.6540.6482485
Synonymous-1.267158.71.210.00000394394
Loss of Function2.74110.70.09385.39e-7111

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000009070.00000907
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
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_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumMediumMedium

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

Biological process
Cellular component
nucleus;cytoplasm;mitochondrion;cytosol;membrane;ER membrane protein complex
Molecular function
protein binding