TMEM215

transmembrane protein 215

Basic information

Region (hg38): 9:32783539-32789201

Links

ENSG00000188133 ∙ NCBI:401498 ∙ ∙ HGNC:33816 ∙ Uniprot:Q68D42 ∙ 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 TMEM215 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM215 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			4	2		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	2	0

Variants in TMEM215

This is a list of pathogenic ClinVar variants found in the TMEM215 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-32784473-C-A		not specified	Uncertain significance (May 20, 2024)
9-32784574-G-A		not specified	Likely benign (Aug 08, 2023)
9-32784718-G-A		not specified	Likely benign (Nov 30, 2022)
9-32784752-C-G		not specified	Uncertain significance (Feb 12, 2024)
9-32784763-G-C		not specified	Uncertain significance (Dec 06, 2021)
9-32784781-C-T		not specified	Uncertain significance (Feb 27, 2024)
9-32784824-C-T		not specified	Uncertain significance (Jul 21, 2021)
9-32784847-A-G		not specified	Uncertain significance (May 31, 2024)
9-32784877-G-A		not specified	Uncertain significance (Jun 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM215	protein_coding	protein_coding	ENST00000342743	1	3901

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00412	0.673	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.820	113	140	0.805	0.00000779	1529
Missense in Polyphen		60	84.793	0.70761		914
Synonymous	1.11	53	64.3	0.825	0.00000414	479
Loss of Function	0.615	4	5.57	0.719	2.34e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.257
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.389
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.184

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem215

Gene ontology

• Cellular component: integral component of membrane