SLC16A14

solute carrier family 16 member 14, the group of Solute carrier family 16

Basic information

Region (hg38): 2:230034982-230068993

Links

ENSG00000163053NCBI:151473HGNC:26417Uniprot:Q7RTX9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC16A14 gene.

  • not_specified (47 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152527.5. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
46
clinvar
1
clinvar
47
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 46 1 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC16A14protein_codingprotein_codingENST00000295190 434018
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01310.9811257180281257460.000111
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.852203120.7050.00001813343
Missense in Polyphen92148.920.617781660
Synonymous-0.2981421381.030.000009781031
Loss of Function2.39616.50.3647.65e-7187

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002470.000247
Ashkenazi Jewish0.0003140.000298
East Asian0.00005910.0000544
Finnish0.000.00
European (Non-Finnish)0.0001160.000114
Middle Eastern0.00005910.0000544
South Asian0.0001700.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. {ECO:0000250}.;

Recessive Scores

pRec
0.104

Intolerance Scores

loftool
0.248
rvis_EVS
-0.49
rvis_percentile_EVS
22.51

Haploinsufficiency Scores

pHI
0.123
hipred
Y
hipred_score
0.699
ghis
0.592

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0910

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc16a14
Phenotype

Gene ontology

Biological process
monocarboxylic acid transport;transmembrane transport
Cellular component
integral component of plasma membrane
Molecular function
monocarboxylic acid transmembrane transporter activity;symporter activity