TMEM160

transmembrane protein 160

Basic information

Region (hg38): 19:47045908-47048624

Links

ENSG00000130748 ∙ NCBI:54958 ∙ OMIM:620258 ∙ HGNC:26042 ∙ Uniprot:Q9NX00 ∙ 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 TMEM160 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM160 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in TMEM160

This is a list of pathogenic ClinVar variants found in the TMEM160 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-47046085-T-C		not specified	Uncertain significance (Feb 23, 2023)
19-47046093-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-47046102-C-T		not specified	Uncertain significance (Mar 17, 2023)
19-47046123-G-A		not specified	Uncertain significance (Jun 27, 2023)
19-47046183-A-G		not specified	Uncertain significance (Aug 03, 2022)
19-47046228-C-T		not specified	Uncertain significance (Sep 22, 2022)
19-47048470-G-C		not specified	Uncertain significance (Oct 14, 2023)
19-47048503-C-T		not specified	Uncertain significance (Jul 20, 2022)
19-47048545-G-A		not specified	Uncertain significance (May 17, 2023)
19-47048566-G-A		not specified	Uncertain significance (Dec 19, 2022)
19-47048578-G-C		not specified	Uncertain significance (May 09, 2024)
19-47048580-C-A		not specified	Uncertain significance (Jun 27, 2022)
19-47048605-C-A		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM160	protein_coding	protein_coding	ENST00000253047	3	2724

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0999	0.783	125505	0	25	125530	0.0000996

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	64	92.6	0.691	0.00000590	1114
Missense in Polyphen		21	36.438	0.57632		443
Synonymous	0.589	43	48.2	0.892	0.00000387	437
Loss of Function	1.20	2	4.86	0.411	2.13e-7	54

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.000497	0.000497
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000114	0.000114
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Haploinsufficiency Scores

• pHI: 0.286
• hipred: Y
• hipred_score: 0.516
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.976

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem160

Gene ontology

• Cellular component: integral component of membrane