TMEM270

transmembrane protein 270

Basic information

Region (hg38): 7:73861159-73865890

Previous symbols: [ "WBSCR28" ]

Links

ENSG00000175877 ∙ NCBI:135886 ∙ OMIM:612547 ∙ HGNC:23018 ∙ Uniprot:Q6UE05 ∙ 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 TMEM270 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM270 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			18			18
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	3	0

Variants in TMEM270

This is a list of pathogenic ClinVar variants found in the TMEM270 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-73861254-G-T		not specified	Uncertain significance (Nov 15, 2021)
7-73865038-A-T		not specified	Uncertain significance (Sep 14, 2022)
7-73865040-C-T			Likely benign (Jan 01, 2023)
7-73865083-C-G		not specified	Uncertain significance (Dec 28, 2022)
7-73865084-G-C		not specified	Uncertain significance (Jul 09, 2021)
7-73865123-C-T		not specified	Uncertain significance (May 26, 2024)
7-73865140-G-A		not specified	Uncertain significance (Mar 29, 2023)
7-73865158-G-A		not specified	Uncertain significance (Jul 13, 2021)
7-73865188-C-G		not specified	Uncertain significance (Feb 28, 2024)
7-73865290-G-A		not specified	Uncertain significance (Apr 13, 2023)
7-73865290-G-C		not specified	Uncertain significance (Dec 09, 2023)
7-73865330-G-T		not specified	Uncertain significance (May 16, 2022)
7-73865336-T-C		not specified	Uncertain significance (Oct 05, 2021)
7-73865354-T-C		not specified	Uncertain significance (Dec 18, 2023)
7-73865355-G-A			Likely benign (Sep 01, 2022)
7-73865626-G-A		not specified	Uncertain significance (Feb 17, 2022)
7-73865689-C-T		not specified	Uncertain significance (Aug 12, 2021)
7-73865712-C-T		not specified	Uncertain significance (Nov 17, 2022)
7-73865724-G-T		not specified	Uncertain significance (Aug 22, 2023)
7-73865740-C-T		not specified	Uncertain significance (Feb 21, 2024)
7-73865781-G-A		not specified	Uncertain significance (Jan 09, 2024)
7-73865822-G-A			Likely benign (Oct 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM270	protein_coding	protein_coding	ENST00000320531	3	4735

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.18e-8	0.105	124663	2	367	125032	0.00148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.212	141	134	1.05	0.00000664	1638
Missense in Polyphen		42	32.928	1.2755		411
Synonymous	0.398	61	65.1	0.937	0.00000353	593
Loss of Function	-0.0868	12	11.7	1.03	6.64e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0188	0.0183
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000222
Finnish	0.0000936	0.0000464
European (Non-Finnish)	0.000342	0.000335
Middle Eastern	0.000223	0.000222
South Asian	0.000536	0.000523
Other	0.000842	0.000822

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0791

Intolerance Scores

• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.06

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tmem270

Gene ontology

• Cellular component: integral component of membrane