SLC6A14
Basic information
Region (hg38): X:116436606-116461458
Links
Phenotypes
GenCC
Source:
- cystic fibrosis (Supportive), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (41 variants)
- not_provided (7 variants)
- SLC6A14-related_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC6A14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007231.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 41 | 42 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 1 | 4 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner. {ECO:0000269|PubMed:10446133}.;
- Pathway
- Nuclear Receptors Meta-Pathway;NRF2 pathway;Amine compound SLC transporters;Biopterin metabolism;Amino acid transport across the plasma membrane;Amino acid and oligopeptide SLC transporters;Transport of inorganic cations/anions and amino acids/oligopeptides;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Lipoate metabolism;Histidine metabolism;Methionine and cysteine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Valine, leucine and isoleucine degradation;Aminosugars metabolism;Bile acid biosynthesis;Glycerophospholipid metabolism;Na+/Cl- dependent neurotransmitter transporters;Glycine, serine, alanine and threonine metabolism
(Consensus)
Recessive Scores
- pRec
- 0.119
Intolerance Scores
- loftool
- 0.327
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 37.11
Haploinsufficiency Scores
- pHI
- 0.316
- hipred
- Y
- hipred_score
- 0.613
- ghis
- 0.423
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.255
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc6a14
- Phenotype
- neoplasm; hematopoietic system phenotype; reproductive system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- amino acid transmembrane transport;cellular amino acid metabolic process;neurotransmitter transport;amino acid transport;response to toxic substance
- Cellular component
- plasma membrane;integral component of membrane;vesicle;extracellular exosome
- Molecular function
- neurotransmitter:sodium symporter activity;amino acid transmembrane transporter activity