TMEM241

transmembrane protein 241, the group of Solute carrier family 35

Basic information

Region (hg38): 18:23197144-23437961

Previous symbols: [ "C18orf45" ]

Links

ENSG00000134490NCBI:85019OMIM:615430HGNC:31723Uniprot:Q24JQ0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM241 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM241 gene is commonly pathogenic or not. These statistics are base on transcript: . 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
0
missense
20
clinvar
20
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 20 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TMEM241protein_codingprotein_codingENST00000383233 15240818
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.47e-70.9221257220251257470.0000994
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2421391470.9440.000006891899
Missense in Polyphen3435.4970.95784506
Synonymous1.564560.50.7440.00000317571
Loss of Function1.731321.70.5999.23e-7269

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001170.000117
Ashkenazi Jewish0.000.00
East Asian0.0002920.000272
Finnish0.00009320.0000924
European (Non-Finnish)0.00008020.0000791
Middle Eastern0.0002920.000272
South Asian0.0001340.000131
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0577

Intolerance Scores

loftool
rvis_EVS
0.75
rvis_percentile_EVS
86.57

Haploinsufficiency Scores

pHI
0.0440
hipred
N
hipred_score
0.254
ghis
0.394

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tmem241
Phenotype
skeleton phenotype;

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function