TMEM95

transmembrane protein 95

Basic information

Region (hg38): 17:7355123-7357219

Links

ENSG00000182896 ∙ NCBI:339168 ∙ OMIM:617814 ∙ HGNC:27898 ∙ Uniprot:Q3KNT9 ∙ 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 TMEM95 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM95 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	0

Variants in TMEM95

This is a list of pathogenic ClinVar variants found in the TMEM95 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7355212-G-C		not specified	Uncertain significance (Oct 05, 2021)
17-7355217-G-A		not specified	Uncertain significance (Apr 19, 2024)
17-7355248-A-G		not specified	Uncertain significance (Jul 25, 2023)
17-7355266-G-A		not specified	Uncertain significance (Dec 25, 2024)
17-7355272-C-A		not specified	Uncertain significance (Mar 16, 2022)
17-7355285-G-C		not specified	Uncertain significance (Jan 25, 2024)
17-7355292-C-T		not specified	Uncertain significance (May 23, 2023)
17-7355301-C-T		not specified	Uncertain significance (Nov 10, 2024)
17-7355322-G-A		not specified	Uncertain significance (Feb 28, 2023)
17-7355338-G-A		not specified	Uncertain significance (Aug 28, 2024)
17-7355368-C-T		not specified	Uncertain significance (Mar 01, 2024)
17-7355588-G-A		not specified	Uncertain significance (Jul 30, 2024)
17-7355612-G-C		not specified	Uncertain significance (Aug 16, 2022)
17-7355850-C-T		not specified	Uncertain significance (Jun 02, 2023)
17-7355864-C-A		not specified	Uncertain significance (Mar 01, 2023)
17-7355890-G-C		not specified	Uncertain significance (Dec 08, 2023)
17-7356043-G-A		not specified	Uncertain significance (Apr 20, 2023)
17-7356178-C-G		not specified	Uncertain significance (Jan 31, 2022)
17-7356232-A-T		not specified	Uncertain significance (Mar 19, 2024)
17-7356259-G-A		not specified	Uncertain significance (Jun 28, 2022)
17-7356265-G-A		not specified	Uncertain significance (May 17, 2023)
17-7356396-T-G		not specified	Uncertain significance (Dec 06, 2023)
17-7356466-A-G		not specified	Uncertain significance (Jan 26, 2022)
17-7356615-G-A		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM95	protein_coding	protein_coding	ENST00000330767	7	2097

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.24e-8	0.150	125712	0	27	125739	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.225	107	101	1.06	0.00000512	1157
Missense in Polyphen		1	3.6073	0.27722		42
Synonymous	0.358	39	41.9	0.930	0.00000225	380
Loss of Function	0.116	12	12.4	0.964	6.06e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000337	0.000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000136	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000980	0.0000980
Other	0.000372	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.422
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.146
• ghis: 0.478

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.162

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem95

Gene ontology

• Cellular component: integral component of membrane