ENC1
Basic information
Region (hg38): 5:74627405-74641424
Previous symbols: [ "NRPB" ]
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 ENC1 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 | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 11 | 0 | 1 |
Variants in ENC1
This is a list of pathogenic ClinVar variants found in the ENC1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-74634724-G-A | not specified | Uncertain significance (Mar 30, 2024) | ||
| 5-74634738-G-A | not specified | Uncertain significance (Nov 21, 2022) | ||
| 5-74635164-C-T | not specified | Uncertain significance (May 08, 2024) | ||
| 5-74635507-G-C | not specified | Uncertain significance (Apr 13, 2022) | ||
| 5-74635620-C-T | not specified | Uncertain significance (Apr 13, 2023) | ||
| 5-74635704-T-C | not specified | Uncertain significance (Sep 06, 2022) | ||
| 5-74635752-T-C | not specified | Uncertain significance (Jan 25, 2023) | ||
| 5-74635947-C-G | not specified | Uncertain significance (Apr 13, 2022) | ||
| 5-74636022-A-T | not specified | Uncertain significance (Dec 27, 2023) | ||
| 5-74636069-G-C | ENC1-related disorder | Uncertain significance (Jan 31, 2024) | ||
| 5-74636214-T-C | not specified | Uncertain significance (May 09, 2023) | ||
| 5-74636280-C-T | not specified | Uncertain significance (May 14, 2024) | ||
| 5-74636374-G-T | not specified | Uncertain significance (Sep 22, 2022) | ||
| 5-74636440-C-T | not specified | Uncertain significance (Feb 02, 2022) | ||
| 5-74636490-T-C | Benign (Aug 15, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ENC1 | protein_coding | protein_coding | ENST00000302351 | 1 | 14016 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.460 | 0.540 | 125738 | 0 | 10 | 125748 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.05 | 173 | 329 | 0.526 | 0.0000190 | 3868 |
| Missense in Polyphen | 61 | 129.3 | 0.47179 | 1483 | ||
| Synonymous | -1.02 | 153 | 138 | 1.11 | 0.00000857 | 1190 |
| Loss of Function | 3.16 | 4 | 18.8 | 0.213 | 0.00000107 | 216 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000181 | 0.000181 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000440 | 0.0000439 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin- mediated proteasomal degradation mechanism. {ECO:0000269|PubMed:19424503}.;
- Pathway
- Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway
(Consensus)
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- loftool
- rvis_EVS
- -0.65
- rvis_percentile_EVS
- 16.36
Haploinsufficiency Scores
- pHI
- 0.824
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.630
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.921
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Enc1
- Phenotype
- adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; immune system phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- multicellular organism development;nervous system development;proteasomal ubiquitin-independent protein catabolic process;positive regulation of neuron projection development;protein ubiquitination;negative regulation of translation
- Cellular component
- nuclear chromatin;nucleus;nucleoplasm;nucleolus;cytoplasm;cytoskeleton;nuclear matrix;Cul3-RING ubiquitin ligase complex;neuronal cell body
- Molecular function
- actin binding;protein binding