TMEM255A

transmembrane protein 255A

Basic information

Region (hg38): X:120258650-120311556

Previous symbols: [ "FAM70A" ]

Links

ENSG00000125355 ∙ NCBI:55026 ∙ ∙ HGNC:26086 ∙ Uniprot:Q5JRV8 ∙ 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 TMEM255A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM255A 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in TMEM255A

This is a list of pathogenic ClinVar variants found in the TMEM255A region.

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

Position	Type	Phenotype	Significance	ClinVar
X-120276901-C-A		not specified	Uncertain significance (Dec 14, 2021)
X-120277013-T-C		not specified	Uncertain significance (Nov 03, 2022)
X-120285175-C-T		not specified	Uncertain significance (Oct 26, 2022)
X-120285206-G-A			Likely benign (-)
X-120285208-C-T		not specified	Uncertain significance (Nov 13, 2023)
X-120291267-A-G		not specified	Uncertain significance (May 18, 2023)
X-120291302-A-C		not specified	Uncertain significance (Aug 31, 2022)
X-120291319-T-A		not specified	Uncertain significance (Nov 08, 2022)
X-120294048-C-T		not specified	Uncertain significance (Oct 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM255A	protein_coding	protein_coding	ENST00000309720	10	52907

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00240	0.934	125730	4	5	125739	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.274	130	139	0.935	0.0000109	2249
Missense in Polyphen		52	69.822	0.74475		1133
Synonymous	0.678	49	55.4	0.884	0.00000453	718
Loss of Function	1.62	6	12.1	0.497	8.46e-7	212

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000773	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000629	0.0000462
European (Non-Finnish)	0.0000737	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000524	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.428
• hipred: Y
• hipred_score: 0.595
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem255a

Gene ontology

• Biological process: response to bacterium
• Cellular component: integral component of membrane