TMEM131

transmembrane protein 131

Basic information

Region (hg38): 2:97756333-97995948

Links

ENSG00000075568 ∙ NCBI:23505 ∙ OMIM:615659 ∙ HGNC:30366 ∙ Uniprot:Q92545 ∙ 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 TMEM131 gene.

• not_specified (215 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM131 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015348.2. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			209	6	1	216
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	209	9	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM131	protein_coding	protein_coding	ENST00000186436	41	239590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000523	124617	0	21	124638	0.0000842

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	761	941	0.809	0.0000497	12199
Missense in Polyphen		237	356.33	0.66511		4858
Synonymous	0.182	356	360	0.988	0.0000215	3683
Loss of Function	7.40	14	89.6	0.156	0.00000478	1178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000311	0.000309
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000111
Finnish	0.0000472	0.0000464
European (Non-Finnish)	0.0000902	0.0000885
Middle Eastern	0.000112	0.000111
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the immune response to viral infection. {ECO:0000250}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• rvis_EVS: -1.05
• rvis_percentile_EVS: 7.63

Haploinsufficiency Scores

• pHI: 0.458
• hipred: N
• hipred_score: 0.426
• ghis: 0.636

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.541

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem131

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function