METTL18

methyltransferase like 18, the group of 7BS protein methyltransferases

Basic information

Region (hg38): 1:169792529-169794963

Previous symbols: [ "C1orf156" ]

Links

ENSG00000171806 ∙ NCBI:92342 ∙ OMIM:615255 ∙ HGNC:28793 ∙ Uniprot:O95568 ∙ 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 METTL18 gene.

• not_specified (41 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METTL18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033418.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			38	3		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METTL18	protein_coding	protein_coding	ENST00000310392	1	2438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000280	0.557	125692	0	53	125745	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.120	174	179	0.975	0.00000774	2452
Missense in Polyphen		47	50.548	0.92982		690
Synonymous	2.05	43	63.9	0.673	0.00000275	695
Loss of Function	0.680	8	10.4	0.772	5.14e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000296	0.000293
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000112	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000229	0.000229
Middle Eastern	0.000112	0.000109
South Asian	0.000361	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable histidine methyltransferase. {ECO:0000250}.

Recessive Scores

• pRec: 0.0827

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.7

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.123
• ghis: 0.511

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mettl18

Gene ontology

• Biological process: biological_process;methylation
• Cellular component: protein-containing complex
• Molecular function: protein binding;methyltransferase activity;heat shock protein binding