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.

not_specified (29 variants)
ENC1-related_disorder (1 variants)

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. These statistics are base on transcript: NM_000003633.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			30 clinvar			30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	0	0

Loading clinvar variants...

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

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