EMC8
Basic information
Region (hg38): 16:85771758-85799608
Previous symbols: [ "C16orf4", "NOC4", "C16orf2", "COX4NB" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
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) | ||
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:
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:
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
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
- Biological process
- Cellular component
- nucleus;cytoplasm;mitochondrion;cytosol;membrane;ER membrane protein complex
- Molecular function
- protein binding