TMEM141

transmembrane protein 141

Basic information

Region (hg38): 9:136791344-136793317

Links

ENSG00000244187 ∙ NCBI:85014 ∙ ∙ HGNC:28211 ∙ Uniprot:Q96I45 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM141 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM141 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in TMEM141

This is a list of pathogenic ClinVar variants found in the TMEM141 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-136791374-G-C		not specified	Uncertain significance (Feb 06, 2023)
9-136791390-C-T		not specified	Uncertain significance (Apr 18, 2023)
9-136791404-G-A		not specified	Uncertain significance (May 20, 2024)
9-136791418-G-C		not specified	Uncertain significance (Dec 28, 2023)
9-136791422-C-T		not specified	Uncertain significance (Aug 02, 2021)
9-136791711-G-C		not specified	Uncertain significance (May 27, 2022)
9-136791737-G-C		not specified	Uncertain significance (Feb 23, 2023)
9-136791744-G-T		not specified	Uncertain significance (Sep 13, 2023)
9-136791775-C-T		not specified	Uncertain significance (Dec 21, 2023)
9-136791957-G-T		not specified	Uncertain significance (May 15, 2024)
9-136791958-G-T		not specified	Uncertain significance (Mar 23, 2022)
9-136792256-G-C		not specified	Uncertain significance (Nov 09, 2023)
9-136792281-C-T		not specified	Uncertain significance (Jul 12, 2022)
9-136792331-G-A		not specified	Uncertain significance (Jul 06, 2021)
9-136792347-A-T		not specified	Uncertain significance (Oct 14, 2023)
9-136792355-A-G		not specified	Uncertain significance (May 10, 2024)
9-136792826-A-T		not specified	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM141	protein_coding	protein_coding	ENST00000290079	5	1903

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00108	0.625	125701	0	21	125722	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.190	67	62.8	1.07	0.00000300	694
Missense in Polyphen		17	22.473	0.75646		237
Synonymous	0.324	23	25.1	0.918	0.00000135	193
Loss of Function	0.575	5	6.59	0.758	2.80e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000157	0.000141
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.600
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.231
• ghis: 0.496

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tmem141

Gene ontology

• Cellular component: integral component of membrane