METTL26

Gene

methyltransferase like 26, the group of 7BS orphan methyltransferases

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C16orf13

MANE transcript

NM_032366.5

Inheritance

—

ClinVar variants

U:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr16:634,427-636,366

External References & Databases

Ensembl (ENSG00000130731)

Transcript & Mutation Effects

hg38 • Region Span ~1.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to METTL26 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032366.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			8 clinvar			8
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	12	0	0	12

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 79 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032366.5	RefSeq	NP_115742.3	6	MANE Select
ENST00000301686.13	Ensembl	ENSP00000445926.2	6	MANE Select
NM_001040160.3	RefSeq	NP_001035250.1	5	Standard
NM_001040161.3	RefSeq	NP_001035251.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397666
Coding exons: 5
Length: 1930
Individuals with no LoFs: 125021
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125026
p: 0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.173	103	98.2	1.05	0.00000518	1276
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000033	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000064	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000019	0.000018	rare
South Asian	0.000037	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.111

Intolerance Scores

RVIS EVS: 0.06
RVIS percentile EVS: 58.53

Essentials

Essential (gene trap): N