TMEM158

transmembrane protein 158

Basic information

Region (hg38): 3:45224466-45226287

Links

ENSG00000249992NCBI:25907OMIM:620257HGNC:30293Uniprot:Q8WZ71AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM158 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM158 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
0
missense
20
clinvar
20
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 20 0 0

Variants in TMEM158

This is a list of pathogenic ClinVar variants found in the TMEM158 region.

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

Position Type Phenotype Significance ClinVar
3-45225150-A-G not specified Uncertain significance (Jun 16, 2024)3326831
3-45225216-G-A not specified Uncertain significance (Nov 21, 2023)3178900
3-45225217-C-T not specified Uncertain significance (Nov 21, 2023)3178899
3-45225378-C-A not specified Uncertain significance (Dec 13, 2022)2334385
3-45225387-C-T not specified Uncertain significance (Feb 11, 2022)2277133
3-45225475-G-A not specified Uncertain significance (Feb 21, 2024)3178897
3-45225486-G-A not specified Uncertain significance (Mar 25, 2024)2247402
3-45225556-G-A not specified Uncertain significance (Mar 21, 2022)2385498
3-45225740-G-C not specified Uncertain significance (Aug 13, 2021)2358134
3-45225810-G-C not specified Uncertain significance (Apr 07, 2023)2512317
3-45225856-G-A not specified Uncertain significance (Mar 06, 2023)2494688
3-45225861-G-C not specified Uncertain significance (Mar 22, 2023)2510049
3-45225870-G-A not specified Uncertain significance (Feb 10, 2022)2276655
3-45225871-A-C not specified Uncertain significance (Jun 21, 2021)2405763
3-45225891-A-G not specified Uncertain significance (Oct 25, 2022)2318907
3-45225894-G-A not specified Uncertain significance (Jan 07, 2022)2271104
3-45225913-C-G not specified Uncertain significance (Jan 26, 2022)2273026
3-45225924-G-A not specified Uncertain significance (Jul 11, 2023)2595422
3-45225951-G-C not specified Uncertain significance (Mar 29, 2023)2564601
3-45225957-T-G not specified Uncertain significance (Aug 10, 2021)2376376
3-45226024-G-C not specified Uncertain significance (Jun 30, 2023)2602861

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TMEM158protein_codingprotein_codingENST00000503771 11813
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1490.64600000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.092647.10.5520.000002261823
Missense in Polyphen1124.5130.44874551
Synonymous0.9621621.70.7370.00000109734
Loss of Function0.67112.030.4928.88e-843

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for brain injury-derived neurotrophic peptide (BINP), a synthetic 13-mer peptide. {ECO:0000250}.;

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.367
ghis
0.542

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumLowMedium

Mouse Genome Informatics

Gene name
Tmem158
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function
peptide binding