TMEM267

transmembrane protein 267

Basic information

Region (hg38): 5:43444252-43483893

Previous symbols: [ "C5orf28" ]

Links

ENSG00000151881 ∙ NCBI:64417 ∙ ∙ HGNC:26139 ∙ Uniprot:Q0VDI3 ∙ 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 TMEM267 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM267 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM267	protein_coding	protein_coding	ENST00000500337	2	39642

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-7	0.107	125607	0	79	125686	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0358	120	121	0.991	0.00000631	1392
Missense in Polyphen		35	30.353	1.1531		316
Synonymous	0.0779	42	42.6	0.985	0.00000229	441
Loss of Function	-0.354	10	8.86	1.13	5.44e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000277	0.000277
European (Non-Finnish)	0.000398	0.000396
Middle Eastern	0.00	0.00
South Asian	0.000854	0.000850
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.630
• hipred: N
• hipred_score: 0.177
• ghis: 0.640

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tmem267

Gene ontology

• Cellular component: integral component of membrane