TMEM81

transmembrane protein 81, the group of Immunoglobulin like domain containing

Basic information

Region (hg38): 1:205083129-205084460

Links

ENSG00000174529 ∙ NCBI:388730 ∙ ∙ HGNC:32349 ∙ Uniprot:Q6P7N7 ∙ 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 TMEM81 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM81 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in TMEM81

This is a list of pathogenic ClinVar variants found in the TMEM81 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-205083566-C-A		not specified	Uncertain significance (Dec 01, 2022)
1-205083566-C-T		not specified	Likely benign (Apr 24, 2024)
1-205083571-C-A		not specified	Uncertain significance (Mar 29, 2022)
1-205083571-C-G		not specified	Uncertain significance (Nov 09, 2021)
1-205083582-A-G		not specified	Uncertain significance (Mar 25, 2024)
1-205083702-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-205083968-C-T		not specified	Uncertain significance (Mar 29, 2022)
1-205083969-G-A		not specified	Uncertain significance (Oct 20, 2021)
1-205084017-G-A		not specified	Uncertain significance (Jan 04, 2024)
1-205084125-C-T		not specified	Uncertain significance (Mar 20, 2024)
1-205084137-C-T		not specified	Uncertain significance (Mar 20, 2023)
1-205084141-C-A		not specified	Uncertain significance (Jun 17, 2024)
1-205084289-C-T		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM81	protein_coding	protein_coding	ENST00000367167	1	1388

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00310	0.611	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.248	129	137	0.940	0.00000685	1645
Missense in Polyphen		42	48.774	0.86112		584
Synonymous	-1.15	67	56.0	1.20	0.00000287	529
Loss of Function	0.436	4	5.06	0.791	2.76e-7	71

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.701
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.53

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.146
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.139

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem81

Gene ontology

• Cellular component: integral component of membrane