ENC1

ectodermal-neural cortex 1, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): 5:74627406-74641424

Previous symbols: [ "NRPB" ]

Links

ENSG00000171617 ∙ NCBI:8507 ∙ OMIM:605173 ∙ HGNC:3345 ∙ Uniprot:O14682 ∙ 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 ENC1 gene.

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	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)
5-74635812-C-T		not specified	Uncertain significance (Nov 25, 2024)
5-74635936-C-T		not specified	Uncertain significance (Sep 26, 2024)
5-74635947-C-G		not specified	Uncertain significance (Apr 13, 2022)
5-74635951-T-A		not specified	Uncertain significance (Aug 05, 2024)
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)
5-74636446-T-C		not specified	Uncertain significance (Sep 20, 2024)
5-74636490-T-C			Benign (Aug 15, 2018)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

• 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