GeneBe

ECEL1

endothelin converting enzyme like 1, the group of M13 metallopeptidases

Basic information

Region (hg38): 2:232479827-232487834

Links

ENSG00000171551 ∙ NCBI:9427 ∙ OMIM:605896 ∙ HGNC:3147 ∙ Uniprot:O95672 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • distal arthrogryposis type 5D (Definitive), mode of inheritance: AR
  • distal arthrogryposis type 5D (Strong), mode of inheritance: AR
  • distal arthrogryposis type 5D (Strong), mode of inheritance: AR
  • distal arthrogryposis type 5D (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Arthrogryposis, distal, type 5DARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Musculoskeletal23236030; 23261301; 25099528

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ECEL1 gene.

  • Inborn_genetic_diseases (100 variants)
  • not_provided (86 variants)
  • Distal_arthrogryposis_type_5D (78 variants)
  • ECEL1-related_disorder (23 variants)
  • not_specified (14 variants)
  • See_cases (4 variants)
  • Distal_arthrogryposis (2 variants)
  • Arthrogryposis_multiplex_congenita (2 variants)
  • Arthrogryposis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ECEL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004826.4. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
26
clinvar
4
clinvar
 32
missense
5
clinvar
15
clinvar
118
clinvar
16
clinvar
2
clinvar
 156
nonsense
10
clinvar
7
clinvar
 17
start loss
1
 1
frameshift
9
clinvar
5
clinvar
 14
splice donor/acceptor (+/-2bp)
9
clinvar
3
clinvar
 12
Total 33 31 120 42 6

Highest pathogenic variant AF is 0.00005709

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ECEL1protein_codingprotein_codingENST00000304546 178002
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.79e-130.9841256870601257470.000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4784094370.9360.00002564917
Missense in Polyphen137161.040.850721884
Synonymous-0.3241971911.030.00001161538
Loss of Function2.462744.80.6030.00000256444

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001500.00150
Ashkenazi Jewish0.00009980.0000992
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.0001780.000176
Middle Eastern0.0001090.000109
South Asian0.0002290.000229
Other0.0004910.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.;
Disease
DISEASE: Arthrogryposis, distal, 5D (DA5D) [MIM:615065]: An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. {ECO:0000269|PubMed:23236030, ECO:0000269|PubMed:23261301, ECO:0000269|PubMed:23808592, ECO:0000269|PubMed:23829171}. Note=The disease is caused by mutations affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592). {ECO:0000269|PubMed:23808592}.;

Recessive Scores

pRec
0.205

Intolerance Scores

loftool
0.207
rvis_EVS
0
rvis_percentile_EVS
54.07

Haploinsufficiency Scores

pHI
0.130
hipred
Y
hipred_score
0.782
ghis
0.404

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.362

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ecel1
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
respiratory system process;proteolysis;neuropeptide signaling pathway
Cellular component
integral component of plasma membrane
Molecular function
metalloendopeptidase activity;metallopeptidase activity;metal ion binding