NACAD
Basic information
Region (hg38): 7:45080436-45088969
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 NACAD 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 | 11 | 11 | ||||
missense | 111 | 119 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 111 | 19 | 0 |
Variants in NACAD
This is a list of pathogenic ClinVar variants found in the NACAD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-45080513-A-G | not specified | Uncertain significance (Dec 19, 2022) | ||
7-45080648-C-T | not specified | Uncertain significance (Jan 02, 2024) | ||
7-45080698-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
7-45080908-A-T | not specified | Uncertain significance (Jul 13, 2021) | ||
7-45080926-G-A | not specified | Uncertain significance (Dec 28, 2023) | ||
7-45081242-G-A | not specified | Uncertain significance (Nov 17, 2022) | ||
7-45081635-G-T | not specified | Uncertain significance (Dec 07, 2021) | ||
7-45081638-T-C | not specified | Uncertain significance (Feb 17, 2023) | ||
7-45081660-C-T | not specified | Likely benign (Apr 25, 2022) | ||
7-45081769-G-C | not specified | Uncertain significance (Apr 19, 2023) | ||
7-45081772-C-T | not specified | Uncertain significance (Aug 10, 2023) | ||
7-45081801-T-C | not specified | Uncertain significance (Jul 05, 2022) | ||
7-45081858-C-G | not specified | Uncertain significance (Mar 23, 2023) | ||
7-45081858-C-T | not specified | Uncertain significance (May 16, 2023) | ||
7-45082125-T-A | not specified | Uncertain significance (Mar 22, 2023) | ||
7-45082200-T-A | not specified | Uncertain significance (Apr 09, 2024) | ||
7-45082209-G-A | not specified | Uncertain significance (Jan 05, 2022) | ||
7-45082243-T-G | not specified | Uncertain significance (Jul 22, 2022) | ||
7-45082261-T-C | not specified | Uncertain significance (Feb 06, 2023) | ||
7-45082296-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
7-45082330-C-G | not specified | Uncertain significance (Nov 28, 2023) | ||
7-45082372-G-A | not specified | Uncertain significance (Sep 21, 2023) | ||
7-45082408-A-T | not specified | Uncertain significance (Jun 16, 2023) | ||
7-45082519-C-T | not specified | Uncertain significance (May 03, 2023) | ||
7-45082524-G-A | not specified | Uncertain significance (Aug 26, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NACAD | protein_coding | protein_coding | ENST00000490531 | 8 | 8477 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.164 | 0.836 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.37 | 551 | 732 | 0.753 | 0.0000409 | 9795 |
Missense in Polyphen | 138 | 205.23 | 0.67241 | 2505 | ||
Synonymous | 2.56 | 277 | 337 | 0.823 | 0.0000217 | 3566 |
Loss of Function | 4.51 | 10 | 41.3 | 0.242 | 0.00000210 | 555 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May prevent inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). May bind to nascent polypeptide chains as they emerge from the ribosome and block their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. May also reduce the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity). {ECO:0000250}.;
Haploinsufficiency Scores
- pHI
- 0.109
- hipred
- N
- hipred_score
- 0.146
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0673
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nacad
- Phenotype
- growth/size/body region phenotype; skeleton phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- protein transport
- Cellular component
- nucleus;nascent polypeptide-associated complex
- Molecular function