TMEM217

transmembrane protein 217

Basic information

Region (hg38): 6:37212180-37258155

Previous symbols: [ "C6orf128" ]

Links

ENSG00000172738 ∙ NCBI:221468 ∙ ∙ HGNC:21238 ∙ Uniprot:Q8N7C4 ∙ 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 TMEM217 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM217 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	0	10	1	3

Variants in TMEM217

This is a list of pathogenic ClinVar variants found in the TMEM217 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-37212768-T-C			Likely benign (Feb 01, 2023)
6-37218513-T-C		not specified	Uncertain significance (Jul 12, 2022)
6-37218516-G-A		not specified	Uncertain significance (Mar 23, 2023)
6-37218560-C-T			Benign (Apr 10, 2018)
6-37218561-C-T		not specified	Likely benign (Apr 29, 2024)
6-37218562-G-A		not specified	Uncertain significance (Mar 22, 2023)
6-37218612-C-G		not specified	Uncertain significance (Nov 10, 2022)
6-37218615-T-C		not specified	Uncertain significance (Jun 16, 2024)
6-37218636-A-C		not specified	Uncertain significance (Nov 01, 2022)
6-37218661-C-T		not specified	Uncertain significance (Apr 04, 2024)
6-37218737-A-G			Benign (Apr 10, 2018)
6-37218917-C-T			Benign (Feb 26, 2018)
6-37218948-A-G		not specified	Uncertain significance (Jul 26, 2022)
6-37218963-A-G		not specified	Uncertain significance (May 25, 2022)
6-37218973-C-A		not specified	Uncertain significance (Jul 28, 2021)
6-37218985-C-T		not specified	Uncertain significance (Dec 01, 2022)
6-37257924-G-T		not specified	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM217	protein_coding	protein_coding	ENST00000336655	2	45976

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000713	0.519	125723	0	23	125746	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.802	101	126	0.799	0.00000674	1538
Missense in Polyphen		32	32.094	0.99706		407
Synonymous	-0.979	55	46.5	1.18	0.00000253	416
Loss of Function	0.518	7	8.64	0.810	4.67e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.387
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.00781
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.313

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem217

Gene ontology

• Cellular component: fibrillar center;nucleolus;integral component of membrane