TMEM268

transmembrane protein 268

Basic information

Region (hg38): 9:114611205-114646422

Previous symbols: [ "C9orf91" ]

Links

ENSG00000157693 ∙ NCBI:203197 ∙ ∙ HGNC:24513 ∙ Uniprot:Q5VZI3 ∙ 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 TMEM268 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM268 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in TMEM268

This is a list of pathogenic ClinVar variants found in the TMEM268 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-114628197-G-A		not specified	Uncertain significance (Jul 15, 2021)
9-114638665-C-T		not specified	Uncertain significance (Sep 16, 2021)
9-114643296-C-T		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM268	protein_coding	protein_coding	ENST00000288502	8	35217

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.45e-8	0.450	125679	0	69	125748	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.349	178	192	0.929	0.0000105	2197
Missense in Polyphen		53	56.509	0.9379		672
Synonymous	-0.216	82	79.5	1.03	0.00000467	704
Loss of Function	0.846	13	16.7	0.777	8.11e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000657	0.000657
Ashkenazi Jewish	0.00	0.00
East Asian	0.000769	0.000761
Finnish	0.0000472	0.0000462
European (Non-Finnish)	0.000262	0.000255
Middle Eastern	0.000769	0.000761
South Asian	0.000174	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.37

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.248
• ghis: 0.499

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tmem268

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function