MS4A14

membrane spanning 4-domains A14, the group of Membrane spanning 4-domains

Basic information

Region (hg38): 11:60378530-60417756

Previous symbols: [ "MS4A16" ]

Links

ENSG00000166928NCBI:84689HGNC:30706Uniprot:Q96JA4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MS4A14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MS4A14 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
1
clinvar
1
missense
29
clinvar
2
clinvar
31
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 29 2 1

Variants in MS4A14

This is a list of pathogenic ClinVar variants found in the MS4A14 region.

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

Position Type Phenotype Significance ClinVar
11-60385105-T-G not specified Uncertain significance (Jul 13, 2022)2301300
11-60385178-T-C not specified Uncertain significance (Jan 26, 2022)2409698
11-60385191-T-C not specified Uncertain significance (Feb 10, 2022)2276479
11-60386730-G-A not specified Uncertain significance (Sep 17, 2021)2364574
11-60386732-T-G not specified Uncertain significance (Jan 24, 2024)3210808
11-60386741-A-G not specified Uncertain significance (Nov 10, 2022)2325980
11-60386747-T-A not specified Uncertain significance (Jun 19, 2024)2355164
11-60389421-G-A not specified Uncertain significance (Dec 15, 2023)3210819
11-60389423-T-G not specified Uncertain significance (May 08, 2024)3296193
11-60389424-C-T not specified Uncertain significance (May 08, 2024)3296194
11-60389487-C-A not specified Uncertain significance (Jul 30, 2023)2602085
11-60389568-A-T not specified Uncertain significance (Jan 05, 2022)2270329
11-60393790-T-C not specified Uncertain significance (Jan 11, 2023)2464153
11-60393800-C-T not specified Likely benign (Dec 12, 2023)3210830
11-60396592-C-A not specified Uncertain significance (Jun 07, 2024)3296180
11-60397879-A-ATT Essential tremor Uncertain significance (-)1184865
11-60400407-A-G not specified Uncertain significance (Dec 19, 2022)2337340
11-60400424-C-G Benign (Jul 26, 2018)778538
11-60400450-T-G not specified Uncertain significance (Mar 20, 2024)3296177
11-60403008-T-A not specified Uncertain significance (Dec 06, 2022)2333304
11-60403021-C-T not specified Uncertain significance (Mar 06, 2023)2469124
11-60415456-C-T not specified Uncertain significance (Feb 13, 2023)2454924
11-60415498-A-G not specified Uncertain significance (Apr 07, 2022)2359482
11-60415512-T-A not specified Uncertain significance (Nov 18, 2022)2327979
11-60415543-A-T not specified Uncertain significance (Mar 16, 2022)2395179

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MS4A14protein_codingprotein_codingENST00000531783 639159
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.71e-70.1671256830351257180.000139
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.05833543511.010.00001664659
Missense in Polyphen6461.51.0406935
Synonymous-1.561611381.170.000007041362
Loss of Function-0.19898.381.073.52e-7115

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009990.0000992
East Asian0.000.00
Finnish0.0001400.000139
European (Non-Finnish)0.0001060.000106
Middle Eastern0.000.00
South Asian0.0005570.000555
Other0.0003290.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in signal transduction as a component of a multimeric receptor complex. {ECO:0000250}.;

Recessive Scores

pRec
0.0428

Intolerance Scores

loftool
0.948
rvis_EVS
1.74
rvis_percentile_EVS
96.63

Haploinsufficiency Scores

pHI
0.0190
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.000797

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ms4a14
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function