ENOX1

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

Basic information

Region (hg38): 13:43213129-43786972

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.

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.

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				1		1
missense			29	1		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	2	0

Variants in ENOX1

This is a list of pathogenic ClinVar variants found in the ENOX1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-43214050-C-T			Likely benign (Apr 01, 2022)
13-43214069-T-C		not specified	Uncertain significance (Jun 03, 2022)
13-43214079-G-A		not specified	Uncertain significance (May 27, 2022)
13-43214112-T-A		not specified	Uncertain significance (Jun 03, 2022)
13-43214118-A-G		not specified	Uncertain significance (Dec 06, 2023)
13-43224115-C-T		not specified	Uncertain significance (Feb 28, 2023)
13-43236674-C-T		not specified	Uncertain significance (May 16, 2024)
13-43236698-C-T		not specified	Uncertain significance (Oct 26, 2022)
13-43236729-C-T		not specified	Uncertain significance (Jul 19, 2022)
13-43298357-C-G		not specified	Uncertain significance (Apr 17, 2024)
13-43298365-G-A		not specified	Uncertain significance (Oct 25, 2022)
13-43298388-C-G		not specified	Uncertain significance (Feb 07, 2023)
13-43298393-C-T		not specified	Uncertain significance (Jan 19, 2024)
13-43298513-A-G		not specified	Uncertain significance (Apr 12, 2023)
13-43298518-T-C		not specified	Uncertain significance (Nov 04, 2023)
13-43322417-T-C		not specified	Uncertain significance (Feb 28, 2024)
13-43322458-C-T		not specified	Uncertain significance (Feb 22, 2023)
13-43344603-T-C		not specified	Uncertain significance (May 05, 2023)
13-43344627-C-G		not specified	Uncertain significance (Jan 23, 2024)
13-43355972-G-T		not specified	Uncertain significance (Feb 05, 2024)
13-43355976-GCGGGGAT-G		Malignant tumor of prostate	Uncertain significance (-)
13-43355984-G-T		not specified	Uncertain significance (Jan 08, 2024)
13-43356032-C-G		not specified	Uncertain significance (Jun 17, 2024)
13-43356036-C-A		not specified	Uncertain significance (Apr 13, 2023)
13-43356044-C-G		not specified	Uncertain significance (May 21, 2024)

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