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.

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.

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				3		3
missense			84	1	1	86
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	84	4	1

Variants in TMEM131

This is a list of pathogenic ClinVar variants found in the TMEM131 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-97757105-C-A		not specified	Uncertain significance (Jan 17, 2023)
2-97757106-T-C		not specified	Uncertain significance (Apr 12, 2022)
2-97757121-G-A		not specified	Uncertain significance (Dec 20, 2022)
2-97758912-G-C		not specified	Uncertain significance (Jan 31, 2024)
2-97759036-C-T		not specified	Uncertain significance (Oct 13, 2023)
2-97759037-G-A			Likely benign (Jul 01, 2022)
2-97759654-C-A		not specified	Uncertain significance (Feb 14, 2024)
2-97759682-C-T		not specified	Uncertain significance (Dec 21, 2021)
2-97759744-C-G		not specified	Uncertain significance (Jun 02, 2023)
2-97760614-A-C		not specified	Uncertain significance (May 25, 2023)
2-97760620-G-A		not specified	Uncertain significance (Jun 23, 2021)
2-97760684-T-G		not specified	Uncertain significance (Jul 21, 2022)
2-97760687-C-T		not specified	Uncertain significance (Jul 13, 2021)
2-97760823-C-A		not specified	Uncertain significance (May 24, 2023)
2-97760834-G-C		not specified	Uncertain significance (Feb 27, 2024)
2-97760858-G-A		not specified	Uncertain significance (Sep 13, 2023)
2-97760866-C-A		not specified	Uncertain significance (May 05, 2023)
2-97760891-T-C		not specified	Likely benign (Jun 11, 2021)
2-97762071-C-T		not specified	Uncertain significance (Dec 08, 2023)
2-97762074-C-T		not specified	Uncertain significance (Jan 26, 2023)
2-97762110-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-97762113-G-C		not specified	Uncertain significance (Sep 12, 2023)
2-97762168-T-C		not specified	Uncertain significance (Aug 17, 2022)
2-97766138-C-T		not specified	Uncertain significance (Aug 08, 2022)
2-97766203-T-C		not specified	Uncertain significance (Oct 04, 2022)

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