TMEM61

transmembrane protein 61

Basic information

Region (hg38): 1:54886833-54992296

Links

ENSG00000143001 ∙ NCBI:199964 ∙ ∙ HGNC:27296 ∙ Uniprot:Q8N0U2 ∙ 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 TMEM61 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM61 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			18	4		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	4	0

Variants in TMEM61

This is a list of pathogenic ClinVar variants found in the TMEM61 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-54886852-C-T			Likely benign (Jan 16, 2020)
1-54886870-C-G			Benign (Jan 13, 2024)
1-54886899-A-G		Inborn genetic diseases	Uncertain significance (Jun 03, 2024)
1-54886937-G-A			Likely benign (Nov 02, 2021)
1-54886940-G-A		Desmosterolosis	Benign/Likely benign (Jan 29, 2024)
1-54886960-C-A			Uncertain significance (Jul 11, 2022)
1-54886982-G-A			Likely benign (Nov 18, 2023)
1-54886985-G-A			Likely benign (Dec 10, 2022)
1-54886991-C-G			Likely benign (Sep 06, 2022)
1-54886994-G-C			Likely benign (Dec 23, 2021)
1-54887003-G-A			Likely benign (Jun 05, 2022)
1-54887018-G-A			Conflicting classifications of pathogenicity (Jan 06, 2024)
1-54887039-G-A		not specified • Desmosterolosis	Benign/Likely benign (Jan 18, 2024)
1-54887042-C-G		DHCR24-related disorder	Likely benign (Apr 16, 2019)
1-54887045-G-A			Likely benign (Dec 11, 2023)
1-54887047-A-G			Uncertain significance (Sep 22, 2016)
1-54887063-G-A			Likely benign (Mar 01, 2022)
1-54887064-C-CGGCG		not specified	Uncertain significance (Dec 29, 2022)
1-54887068-C-A			Uncertain significance (Oct 11, 2021)
1-54887090-G-A			Likely benign (Jan 17, 2022)
1-54887096-G-A			Likely benign (Mar 25, 2022)
1-54887110-C-T			Uncertain significance (Mar 12, 2022)
1-54887113-GCT-G			Uncertain significance (Jul 18, 2022)
1-54887130-C-T		Desmosterolosis	Uncertain significance (Jan 12, 2018)
1-54887146-C-A		Desmosterolosis	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM61	protein_coding	protein_coding	ENST00000371268	3	11502

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000608	0.288	125320	0	13	125333	0.0000519

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.187	125	131	0.954	0.00000796	1319
Missense in Polyphen		49	49.741	0.98511		498
Synonymous	0.379	58	61.8	0.939	0.00000446	475
Loss of Function	-0.247	6	5.38	1.11	2.97e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000150	0.000150
Ashkenazi Jewish	0.00	0.00
East Asian	0.000166	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000541	0.0000531
Middle Eastern	0.000166	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.37

Haploinsufficiency Scores

• pHI: 0.0769
• hipred: N
• hipred_score: 0.123
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.186

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem61

Gene ontology

• Cellular component: integral component of membrane