NAA11

N-alpha-acetyltransferase 11, NatA catalytic subunit, the group of GCN5 related N-acetyltransferases|N-alpha-acetyltransferase subunits

Basic information

Region (hg38): 4:79225693-79326061

Previous symbols: [ "ARD1B" ]

Links

ENSG00000156269 ∙ NCBI:84779 ∙ OMIM:619432 ∙ HGNC:28125 ∙ Uniprot:Q9BSU3 ∙ 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 NAA11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAA11 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						0
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in NAA11

This is a list of pathogenic ClinVar variants found in the NAA11 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-79325214-A-G		not specified	Uncertain significance (Jun 22, 2023)
4-79325271-C-T		not specified	Uncertain significance (Dec 11, 2023)
4-79325282-G-A		not specified	Uncertain significance (Apr 08, 2024)
4-79325308-C-A		not specified	Uncertain significance (Apr 07, 2022)
4-79325321-G-T		not specified	Uncertain significance (Sep 28, 2022)
4-79325322-A-T		not specified	Uncertain significance (Dec 13, 2023)
4-79325418-T-C		not specified	Uncertain significance (Feb 15, 2023)
4-79325429-T-C		not specified	Uncertain significance (Mar 24, 2023)
4-79325460-C-T		not specified	Uncertain significance (May 04, 2022)
4-79325504-G-T		not specified	Uncertain significance (Apr 22, 2022)
4-79325508-T-C		not specified	Uncertain significance (Jun 10, 2024)
4-79325538-T-G		not specified	Uncertain significance (May 21, 2024)
4-79325550-G-A		not specified	Uncertain significance (Apr 18, 2023)
4-79325589-C-T		not specified	Uncertain significance (Dec 11, 2023)
4-79325628-G-A		not specified	Uncertain significance (Nov 12, 2021)
4-79325633-C-T		not specified	Uncertain significance (Aug 08, 2022)
4-79325642-C-T		not specified	Uncertain significance (Jan 20, 2023)
4-79325769-A-C		not specified	Uncertain significance (Sep 22, 2021)
4-79325774-C-A		not specified	Uncertain significance (May 22, 2023)
4-79325842-C-T		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NAA11	protein_coding	protein_coding	ENST00000286794	1	100357

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0104	0.842	125406	0	17	125423	0.0000678

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.236	135	143	0.944	0.00000854	1527
Missense in Polyphen		32	38.287	0.83579		397
Synonymous	0.353	56	59.5	0.942	0.00000399	430
Loss of Function	1.17	4	7.44	0.537	4.12e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000115
Middle Eastern	0.0000556	0.0000544
South Asian	0.0000334	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. {ECO:0000269|PubMed:16638120}.

Recessive Scores

• pRec: 0.0916

Intolerance Scores

• loftool: 0.530
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.213
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: Naa11

Gene ontology

• Biological process: N-terminal protein amino acid acetylation;N-terminal peptidyl-serine acetylation;N-terminal peptidyl-glutamic acid acetylation
• Cellular component: nucleus;NatA complex
• Molecular function: peptide alpha-N-acetyltransferase activity;protein binding;peptide-serine-N-acetyltransferase activity;peptide-glutamate-N-acetyltransferase activity