METTL24

methyltransferase like 24

Basic information

Region (hg38): 6:110243940-110358349

Previous symbols: [ "C6orf186" ]

Links

ENSG00000053328 ∙ NCBI:728464 ∙ ∙ HGNC:21566 ∙ Uniprot:Q5JXM2 ∙ 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 METTL24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METTL24 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	0

Variants in METTL24

This is a list of pathogenic ClinVar variants found in the METTL24 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-110246110-C-T		not specified	Uncertain significance (Jun 10, 2022)
6-110298941-T-C		not specified	Uncertain significance (Jan 17, 2024)
6-110298993-C-T		not specified	Uncertain significance (Sep 07, 2022)
6-110299010-C-A		not specified	Uncertain significance (Mar 04, 2024)
6-110299029-G-A		not specified	Uncertain significance (Jun 29, 2023)
6-110299057-A-C		not specified	Uncertain significance (Dec 16, 2023)
6-110299062-G-A		not specified	Uncertain significance (Nov 21, 2023)
6-110299088-C-T		not specified	Uncertain significance (Jun 02, 2023)
6-110315373-G-A		not specified	Uncertain significance (Mar 18, 2024)
6-110315408-C-T		not specified	Uncertain significance (Jun 01, 2023)
6-110322857-T-C		not specified	Uncertain significance (Dec 27, 2022)
6-110322866-G-A		not specified	Uncertain significance (Feb 05, 2024)
6-110322869-G-C		not specified	Uncertain significance (Mar 25, 2024)
6-110357959-C-G		not specified	Uncertain significance (Aug 12, 2021)
6-110357959-C-T		not specified	Uncertain significance (Nov 01, 2022)
6-110357962-C-T		not specified	Uncertain significance (Apr 12, 2024)
6-110358040-C-G		not specified	Uncertain significance (Jan 09, 2024)
6-110358040-C-T		not specified	Uncertain significance (Dec 19, 2022)
6-110358102-G-T		not specified	Uncertain significance (Mar 20, 2023)
6-110358146-G-C		not specified	Uncertain significance (May 17, 2023)
6-110358154-G-T		not specified	Uncertain significance (Sep 17, 2021)
6-110358161-G-A		not specified	Uncertain significance (Mar 24, 2023)
6-110358190-C-T		not specified	Uncertain significance (Nov 21, 2023)
6-110358202-A-C		not specified	Uncertain significance (Dec 21, 2022)
6-110358226-C-A		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METTL24	protein_coding	protein_coding	ENST00000338882	5	112345

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000109	0.593	124390	1	201	124592	0.000811

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.491	137	154	0.889	0.00000798	2351
Missense in Polyphen		65	75.561	0.86023		1063
Synonymous	0.983	45	54.2	0.830	0.00000264	714
Loss of Function	0.820	9	12.1	0.745	5.13e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000600	0.000600
Ashkenazi Jewish	0.0000996	0.0000995
East Asian	0.00	0.00
Finnish	0.000835	0.000835
European (Non-Finnish)	0.00111	0.00110
Middle Eastern	0.00	0.00
South Asian	0.00137	0.00134
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.26
• rvis_percentile_EVS: 93.53

Haploinsufficiency Scores

• pHI: 0.199
• hipred: N
• hipred_score: 0.302

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: Mettl24
• Phenotype: growth/size/body region phenotype; hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: methylation
• Cellular component: extracellular region
• Molecular function: methyltransferase activity