NOA1

nitric oxide associated 1

Basic information

Region (hg38): 4:56963349-56977606

Previous symbols: [ "C4orf14" ]

Links

ENSG00000084092 ∙ NCBI:84273 ∙ OMIM:614919 ∙ HGNC:28473 ∙ Uniprot:Q8NC60 ∙ 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 NOA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOA1 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				3	1	4
missense			41	4	1	46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	7	2

Variants in NOA1

This is a list of pathogenic ClinVar variants found in the NOA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-56963485-T-C		not specified	Uncertain significance (Jan 16, 2024)
4-56963486-G-A			Likely benign (Apr 01, 2024)
4-56963490-A-G		not specified	Uncertain significance (Mar 20, 2023)
4-56963517-T-C		not specified	Uncertain significance (Feb 28, 2023)
4-56963553-T-A		not specified	Uncertain significance (Dec 04, 2023)
4-56963584-C-T		not specified	Uncertain significance (Feb 28, 2023)
4-56963600-T-A		not specified	Uncertain significance (Aug 16, 2021)
4-56963610-T-C		not specified	Uncertain significance (Mar 20, 2024)
4-56964423-A-T		not specified	Uncertain significance (Aug 12, 2021)
4-56964430-C-G		not specified	Uncertain significance (Dec 02, 2022)
4-56964486-G-A		not specified	Uncertain significance (Apr 17, 2024)
4-56964501-A-G		not specified	Uncertain significance (Jul 14, 2021)
4-56966658-C-T		not specified	Likely benign (Oct 12, 2021)
4-56966665-C-T			Likely benign (Dec 01, 2023)
4-56966677-G-C			Likely benign (Oct 01, 2022)
4-56966709-C-T		not specified	Uncertain significance (May 23, 2023)
4-56968469-G-A		not specified	Uncertain significance (Apr 18, 2023)
4-56973207-G-C		not specified	Likely benign (Dec 27, 2022)
4-56973253-A-G			Benign (Aug 20, 2018)
4-56973292-A-C		not specified	Uncertain significance (Apr 04, 2024)
4-56973298-A-T		not specified	Uncertain significance (Nov 03, 2023)
4-56973861-C-T		not specified	Uncertain significance (Sep 22, 2022)
4-56973986-T-C		not specified	Uncertain significance (May 31, 2023)
4-56976478-C-T		not specified	Uncertain significance (Dec 03, 2021)
4-56976501-T-G		not specified	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOA1	protein_coding	protein_coding	ENST00000264230	7	15454

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000964	0.997	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.112	383	389	0.984	0.0000187	4438
Missense in Polyphen		121	125.52	0.96402		1512
Synonymous	-0.00928	165	165	1.00	0.00000802	1471
Loss of Function	2.63	13	28.0	0.464	0.00000138	305

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000764	0.000544
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000290	0.000281
Middle Eastern	0.000110	0.000109
South Asian	0.0000655	0.0000653
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP. {ECO:0000269|PubMed:19103604}.

Recessive Scores

• pRec: 0.0757

Intolerance Scores

• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.69

Haploinsufficiency Scores

• pHI: 0.0590
• hipred: N
• hipred_score: 0.470
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Noa1
• 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); embryo phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: apoptotic process;regulation of cell death;mitochondrial translation;regulation of cellular respiration
• Cellular component: mitochondrion;extrinsic component of mitochondrial inner membrane
• Molecular function: RNA binding;protein binding;GTP binding