TMEM171

transmembrane protein 171

Basic information

Region (hg38): 5:73120569-73131809

Links

ENSG00000157111 ∙ NCBI:134285 ∙ ∙ HGNC:27031 ∙ Uniprot:Q8WVE6 ∙ 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 TMEM171 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM171 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					1	1
missense			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	1

Variants in TMEM171

This is a list of pathogenic ClinVar variants found in the TMEM171 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-73123450-T-G		not specified	Uncertain significance (May 14, 2024)
5-73123469-G-T		not specified	Uncertain significance (Feb 27, 2023)
5-73123492-C-T		not specified	Uncertain significance (Dec 21, 2023)
5-73123494-A-T		not specified	Uncertain significance (Mar 27, 2023)
5-73123503-T-C		not specified	Uncertain significance (Aug 12, 2022)
5-73123552-A-G		not specified	Uncertain significance (Aug 29, 2022)
5-73123557-G-T		not specified	Uncertain significance (Nov 10, 2023)
5-73123630-G-T		not specified	Uncertain significance (Aug 12, 2022)
5-73123639-T-C		not specified	Uncertain significance (May 09, 2022)
5-73123642-A-T		not specified	Likely benign (Dec 12, 2023)
5-73123669-G-T		not specified	Uncertain significance (Sep 22, 2022)
5-73123687-A-C		not specified	Uncertain significance (Oct 12, 2021)
5-73123755-G-A		not specified	Likely benign (Jul 22, 2022)
5-73123786-C-G		not specified	Uncertain significance (Apr 13, 2022)
5-73123789-A-T		not specified	Uncertain significance (Jun 21, 2021)
5-73123822-C-T		not specified	Uncertain significance (Sep 07, 2022)
5-73123832-A-G			Benign (Jan 08, 2018)
5-73123839-C-G		not specified	Uncertain significance (Aug 13, 2021)
5-73123908-G-C		not specified	Uncertain significance (May 04, 2023)
5-73128396-C-T		not specified	Uncertain significance (Sep 15, 2021)
5-73131541-G-C		not specified	Uncertain significance (Jan 22, 2024)
5-73131589-A-G		not specified	Uncertain significance (Apr 26, 2024)
5-73131606-C-T		not specified	Uncertain significance (Mar 08, 2024)
5-73131645-C-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM171	protein_coding	protein_coding	ENST00000454765	3	11526

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.77e-9	0.0437	125657	0	91	125748	0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.172	201	194	1.03	0.0000110	2085
Missense in Polyphen		75	71.493	1.0491		824
Synonymous	0.130	80	81.5	0.982	0.00000525	685
Loss of Function	-0.797	11	8.49	1.29	4.47e-7	91

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000572	0.000572
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000441	0.000440
Middle Eastern	0.000109	0.000109
South Asian	0.000621	0.000621
Other	0.000688	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0778

Intolerance Scores

• loftool: 0.954
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.07

Haploinsufficiency Scores

• pHI: 0.0951
• hipred: N
• hipred_score: 0.146
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.329

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Tmem171

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding