TMEM255B

transmembrane protein 255B

Basic information

Region (hg38): 13:113759225-113816995

Previous symbols: [ "FAM70B" ]

Links

ENSG00000184497 ∙ NCBI:348013 ∙ ∙ HGNC:28297 ∙ Uniprot:Q8WV15 ∙ 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 TMEM255B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM255B 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				1		1
missense			23	4		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	5	0

Variants in TMEM255B

This is a list of pathogenic ClinVar variants found in the TMEM255B region.

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

Position	Type	Phenotype	Significance	ClinVar
13-113759280-C-G		not specified	Uncertain significance (Dec 21, 2022)
13-113759313-C-T		not specified	Uncertain significance (May 13, 2024)
13-113766136-A-G		not specified	Uncertain significance (Aug 02, 2021)
13-113766177-G-A		not specified	Uncertain significance (Oct 26, 2021)
13-113766195-G-A		not specified	Uncertain significance (May 31, 2023)
13-113766232-T-C		not specified	Uncertain significance (Oct 12, 2022)
13-113769128-G-A		not specified	Uncertain significance (Oct 10, 2023)
13-113795214-G-A		not specified	Uncertain significance (Nov 17, 2022)
13-113795232-C-T		not specified	Uncertain significance (Apr 24, 2024)
13-113799355-C-G		not specified	Uncertain significance (Jun 11, 2024)
13-113799358-C-T		not specified	Uncertain significance (Feb 26, 2024)
13-113799401-C-T			Likely benign (Jul 01, 2022)
13-113799402-G-A		not specified	Uncertain significance (May 09, 2023)
13-113799409-A-G		not specified	Uncertain significance (Jan 30, 2024)
13-113800831-C-T		not specified	Uncertain significance (May 15, 2023)
13-113801687-G-A		not specified	Uncertain significance (Jul 27, 2023)
13-113801690-G-A		not specified	Likely benign (Jan 02, 2024)
13-113801690-G-C		not specified	Uncertain significance (Jan 02, 2024)
13-113801789-G-A		not specified	Uncertain significance (Oct 10, 2023)
13-113801811-T-C		not specified	Uncertain significance (May 28, 2024)
13-113804913-C-T			Likely benign (Jan 01, 2024)
13-113804946-C-T		not specified	Uncertain significance (Apr 12, 2024)
13-113804958-T-C		not specified	Uncertain significance (Jan 23, 2023)
13-113804966-G-A		not specified	Likely benign (Jun 16, 2023)
13-113804982-C-T		not specified	Uncertain significance (May 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM255B	protein_coding	protein_coding	ENST00000375353	9	52711

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.72e-12	0.0199	103325	1765	20657	125747	0.0935

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.179	206	199	1.04	0.0000126	2037
Missense in Polyphen		77	73.979	1.0408		803
Synonymous	-0.401	106	101	1.05	0.00000791	718
Loss of Function	-0.454	16	14.2	1.13	6.00e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.295	0.250
Ashkenazi Jewish	0.217	0.205
East Asian	0.000933	0.000925
Finnish	0.0983	0.0923
European (Non-Finnish)	0.119	0.110
Middle Eastern	0.000933	0.000925
South Asian	0.0410	0.0365
Other	0.133	0.125

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.65
• rvis_percentile_EVS: 84.12

Haploinsufficiency Scores

• pHI: 0.196
• hipred: N
• hipred_score: 0.300
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: Tmem255b
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: integral component of membrane