TMC7

transmembrane channel like 7, the group of Transmembrane channel like family

Basic information

Region (hg38): 16:18983934-19063942

Links

ENSG00000170537 ∙ NCBI:79905 ∙ OMIM:617198 ∙ HGNC:23000 ∙ Uniprot:Q7Z402 ∙ 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 TMC7 gene.

• not_specified (102 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMC7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024847.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	1		2
missense			105	3	1	109
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7			7
Total	0	0	113	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMC7	protein_coding	protein_coding	ENST00000304381	16	80009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.55e-10	0.987	125516	0	232	125748	0.000923

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	342	414	0.826	0.0000239	4761
Missense in Polyphen		73	102.76	0.71039		1190
Synonymous	-0.339	164	159	1.03	0.00000936	1380
Loss of Function	2.40	21	36.7	0.573	0.00000185	430

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00199	0.00198
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000653	0.000653
Finnish	0.000140	0.000139
European (Non-Finnish)	0.00112	0.00111
Middle Eastern	0.000653	0.000653
South Asian	0.000590	0.000588
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable ion channel. {ECO:0000250}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.667
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.61

Haploinsufficiency Scores

• pHI: 0.145
• hipred: Y
• hipred_score: 0.544
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmc7

Gene ontology

• Biological process: ion transmembrane transport
• Cellular component: integral component of plasma membrane
• Molecular function: ion channel activity;mechanosensitive ion channel activity