METTL26

methyltransferase like 26, the group of 7BS orphan methyltransferases

Basic information

Region (hg38): 16:634427-636366

Previous symbols: [ "C16orf13" ]

Links

ENSG00000130731 ∙ NCBI:84326 ∙ ∙ HGNC:14141 ∙ Uniprot:Q96S19 ∙ 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 METTL26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METTL26 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in METTL26

This is a list of pathogenic ClinVar variants found in the METTL26 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-635672-C-G		not specified	Uncertain significance (Oct 21, 2021)
16-635676-G-T		not specified	Uncertain significance (Oct 06, 2021)
16-635698-C-G		not specified	Uncertain significance (Aug 10, 2021)
16-636236-G-A		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METTL26	protein_coding	protein_coding	ENST00000397666	5	1930

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000280	0.340	125021	0	5	125026	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.173	103	98.2	1.05	0.00000518	1276
Missense in Polyphen		33	29.562	1.1163		411
Synonymous	-1.91	59	43.0	1.37	0.00000248	436
Loss of Function	0.0923	7	7.27	0.963	3.13e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000333	0.0000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000636	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000194	0.0000177
Middle Eastern	0.0000636	0.0000544
South Asian	0.0000372	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

• pHI: 0.0826
• hipred: N
• hipred_score: 0.201
• ghis: 0.626

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mettl26