ENOX1

ecto-NOX disulfide-thiol exchanger 1, the group of RNA binding motif containing

Basic information

Region (hg38): 13:43213130-43786972

Links

ENSG00000120658

∙ NCBI:55068 ∙ OMIM:610914 ∙ HGNC:25474 ∙ Uniprot:Q8TC92 ∙ 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 ENOX1 gene.

not_specified (65 variants)
not_provided (2 variants)
Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENOX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001347969.2. 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				1 clinvar		1
missense			65 clinvar	1 clinvar		66
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENOX1	protein_coding	protein_coding	ENST00000261488	14	573391

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000233	1.00	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.03	270	382	0.708	0.0000222	4264
Missense in Polyphen		69	116.5	0.59227		1255
Synonymous	0.201	134	137	0.978	0.00000806	1183
Loss of Function	3.25	16	37.4	0.428	0.00000202	407

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.000163	0.000163
South Asian	0.000142	0.000131
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock. {ECO:0000269|PubMed:11360993, ECO:0000269|PubMed:12565167, ECO:0000269|PubMed:17027975, ECO:0000269|PubMed:19055324}.;

Recessive Scores

pRec: 0.114

Intolerance Scores

loftool: 0.660
rvis_EVS: -0.44
rvis_percentile_EVS: 24.46

Haploinsufficiency Scores

pHI: 0.478
hipred: Y
hipred_score: 0.639
ghis: 0.548

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.972

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Enox1
Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); skeleton phenotype; hearing/vestibular/ear phenotype;

Zebrafish Information Network

Gene name: enox1
Affected structure: trunk
Phenotype tag: abnormal
Phenotype quality: decreased occurrence

Gene ontology

Biological process: ultradian rhythm;oxidation-reduction process
Cellular component: extracellular space;plasma membrane;external side of plasma membrane
Molecular function: nucleic acid binding;protein binding;oxidoreductase activity