METTL17

methyltransferase like 17, the group of 7BS orphan methyltransferases

Basic information

Region (hg38): 14:20989973-20997035

Previous symbols: [ "METT11D1" ]

Links

ENSG00000165792 ∙ NCBI:64745 ∙ OMIM:616091 ∙ HGNC:19280 ∙ Uniprot:Q9H7H0 ∙ 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 METTL17 gene.

• not_specified (63 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METTL17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022734.3. 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			56	4		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METTL17	protein_coding	protein_coding	ENST00000382985	13	7261

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.08e-11	0.538	125603	0	145	125748	0.000577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.523	255	280	0.912	0.0000152	3053
Missense in Polyphen		60	90.147	0.66558		1006
Synonymous	-0.756	113	103	1.09	0.00000533	975
Loss of Function	1.31	20	27.4	0.729	0.00000130	310

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00287	0.00287
Ashkenazi Jewish	0.00	0.00
East Asian	0.000707	0.000707
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000707	0.000707
South Asian	0.000327	0.000327
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a component of the mitochondrial small ribosomal subunit. {ECO:0000250}.

Recessive Scores

• pRec: 0.0764

Intolerance Scores

• rvis_EVS: 0.05
• rvis_percentile_EVS: 57.48

Haploinsufficiency Scores

• pHI: 0.0573
• hipred: N
• hipred_score: 0.180
• ghis: 0.543

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• 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: Mettl17

Gene ontology

• Biological process: translation;methylation
• Cellular component: nucleus;nucleoplasm;mitochondrion;ribosome
• Molecular function: protein binding;methyltransferase activity