TMEM71

transmembrane protein 71

Basic information

Region (hg38): 8:132685006-132760712

Links

ENSG00000165071 ∙ NCBI:137835 ∙ OMIM:620287 ∙ HGNC:26572 ∙ Uniprot:Q6P5X7 ∙ 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 TMEM71 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM71 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in TMEM71

This is a list of pathogenic ClinVar variants found in the TMEM71 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-132714174-G-A		not specified	Uncertain significance (Sep 14, 2023)
8-132714206-C-T		not specified	Uncertain significance (Jan 07, 2022)
8-132722050-C-A		not specified	Uncertain significance (Apr 11, 2023)
8-132722109-C-A		not specified	Uncertain significance (Jan 17, 2024)
8-132727937-C-A		not specified	Uncertain significance (Aug 10, 2021)
8-132727955-A-T		not specified	Uncertain significance (Dec 20, 2021)
8-132751803-T-C		not specified	Uncertain significance (Sep 14, 2022)
8-132751825-G-T		not specified	Uncertain significance (Aug 09, 2021)
8-132751863-C-T		not specified	Uncertain significance (Dec 18, 2023)
8-132751885-A-G		not specified	Uncertain significance (Dec 16, 2023)
8-132751925-G-C		not specified	Uncertain significance (Aug 31, 2022)
8-132751989-C-A		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM71	protein_coding	protein_coding	ENST00000356838	9	75706

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.99e-11	0.0771	125567	2	178	125747	0.000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.370	159	146	1.09	0.00000722	1808
Missense in Polyphen		46	35.884	1.2819		472
Synonymous	-0.448	58	53.8	1.08	0.00000277	512
Loss of Function	0.178	16	16.8	0.953	8.83e-7	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000218	0.000217
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.000218	0.000217
South Asian	0.00467	0.00462
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.288
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.44

Haploinsufficiency Scores

• pHI: 0.0637
• hipred: N
• hipred_score: 0.123
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem71

Gene ontology

• Cellular component: mitochondrion;integral component of membrane