NAA35
Basic information
Region (hg38): 9:85941145-86025462
Previous symbols: [ "MAK10" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAA35 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 | 17 | 22 | ||||
missense | 38 | 45 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 4 | 6 | 1 | 11 | ||
non coding | 19 | 24 | ||||
Total | 0 | 0 | 40 | 40 | 11 |
Variants in NAA35
This is a list of pathogenic ClinVar variants found in the NAA35 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-85942163-G-A | Uncertain significance (Nov 22, 2022) | |||
9-85942189-C-G | Uncertain significance (Feb 24, 2022) | |||
9-85942225-G-A | not specified | Uncertain significance (May 29, 2024) | ||
9-85942240-A-C | Likely benign (Nov 27, 2023) | |||
9-85942286-G-A | Benign (Jan 09, 2024) | |||
9-85942296-T-C | Benign (Nov 22, 2023) | |||
9-85958498-C-T | Uncertain significance (Feb 19, 2022) | |||
9-85958538-T-G | Likely benign (Apr 14, 2023) | |||
9-85958544-C-G | Uncertain significance (Oct 28, 2022) | |||
9-85958589-A-G | Uncertain significance (Oct 05, 2023) | |||
9-85959797-G-A | not specified | Uncertain significance (Oct 10, 2023) | ||
9-85959835-A-G | Uncertain significance (Jun 16, 2023) | |||
9-85959866-T-G | Likely benign (Jan 09, 2024) | |||
9-85961997-T-C | Likely benign (Dec 19, 2023) | |||
9-85962005-C-A | Likely benign (Jan 12, 2023) | |||
9-85962005-C-G | Likely benign (Aug 11, 2022) | |||
9-85962009-A-G | Likely benign (Jun 29, 2023) | |||
9-85962048-A-G | Likely benign (Nov 28, 2022) | |||
9-85962057-G-A | Likely benign (Jul 08, 2023) | |||
9-85962067-A-G | not specified | Uncertain significance (Jan 24, 2024) | ||
9-85962100-A-G | not specified | Uncertain significance (Dec 09, 2023) | ||
9-85962129-A-G | Likely benign (May 10, 2022) | |||
9-85962190-C-T | Likely benign (May 18, 2022) | |||
9-85962191-G-A | Likely benign (Nov 07, 2023) | |||
9-85975009-A-G | not specified | Uncertain significance (Dec 19, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NAA35 | protein_coding | protein_coding | ENST00000361671 | 22 | 81153 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 0.00000156 | 125695 | 0 | 4 | 125699 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.66 | 189 | 394 | 0.480 | 0.0000199 | 4878 |
Missense in Polyphen | 27 | 104.74 | 0.25779 | 1307 | ||
Synonymous | -0.609 | 134 | 125 | 1.07 | 0.00000662 | 1237 |
Loss of Function | 6.02 | 2 | 46.1 | 0.0434 | 0.00000248 | 545 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000292 | 0.0000292 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000463 | 0.0000462 |
European (Non-Finnish) | 0.0000178 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells. {ECO:0000269|PubMed:19398576}.;
- Pathway
- Vesicle-mediated transport;Membrane Trafficking;Retrograde transport at the Trans-Golgi-Network;Intra-Golgi and retrograde Golgi-to-ER traffic
(Consensus)
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- loftool
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.77
Haploinsufficiency Scores
- pHI
- 0.405
- hipred
- Y
- hipred_score
- 0.853
- ghis
- 0.605
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.341
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Naa35
- Phenotype
Gene ontology
- Biological process
- N-terminal protein amino acid acetylation;N-terminal peptidyl-methionine acetylation;negative regulation of apoptotic process;smooth muscle cell proliferation
- Cellular component
- cytoplasm;polysome;NatC complex
- Molecular function
- peptide alpha-N-acetyltransferase activity;protein binding