TMEM60

transmembrane protein 60

Basic information

Region (hg38): 7:77793728-77798434

Previous symbols: [ "C7orf35" ]

Links

ENSG00000135211 ∙ NCBI:85025 ∙ ∙ HGNC:21754 ∙ Uniprot:Q9H2L4 ∙ 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 TMEM60 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM60 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in TMEM60

This is a list of pathogenic ClinVar variants found in the TMEM60 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-77793980-T-C		not specified	Uncertain significance (Mar 22, 2023)
7-77794061-T-A		not specified	Uncertain significance (Sep 29, 2023)
7-77794075-T-C		not specified	Uncertain significance (Jan 22, 2024)
7-77794094-G-C		not specified	Uncertain significance (Mar 25, 2024)
7-77794097-C-T		not specified	Uncertain significance (Sep 30, 2024)
7-77794108-G-A		not specified	Uncertain significance (Jul 20, 2021)
7-77794124-T-C		not specified	Uncertain significance (Feb 28, 2023)
7-77794133-G-A		not specified	Uncertain significance (Sep 01, 2021)
7-77794141-G-T		not specified	Uncertain significance (Jan 17, 2025)
7-77794142-C-A		not specified	Uncertain significance (Jan 17, 2025)
7-77794239-A-C		not specified	Uncertain significance (Oct 31, 2023)
7-77794357-G-A		not specified	Uncertain significance (Dec 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM60	protein_coding	protein_coding	ENST00000257663	1	4853

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.755	0.236	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.424	58	67.8	0.855	0.00000327	860
Missense in Polyphen		20	27.117	0.73754		374
Synonymous	0.119	25	25.8	0.970	0.00000123	266
Loss of Function	2.00	0	4.65	0.00	2.65e-7	49

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0998

Intolerance Scores

• rvis_EVS: 0.21
• rvis_percentile_EVS: 67.72

Haploinsufficiency Scores

• pHI: 0.272
• hipred: N
• hipred_score: 0.459
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.758

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem60

Gene ontology

• Cellular component: integral component of membrane