MYG1

MYG1 exonuclease, the group of Exonucleases

Basic information

Region (hg38): 12:53299695-53307177

Previous symbols: [ "C12orf10" ]

Links

ENSG00000139637 ∙ NCBI:60314 ∙ OMIM:611366 ∙ HGNC:17590 ∙ Uniprot:Q9HB07 ∙ 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 MYG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYG1 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in MYG1

This is a list of pathogenic ClinVar variants found in the MYG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-53299762-C-G		not specified	Uncertain significance (Sep 16, 2021)
12-53306208-A-G		not specified	Uncertain significance (Jan 03, 2024)
12-53306216-A-G		not specified	Uncertain significance (Nov 08, 2021)
12-53307075-C-T		not specified	Uncertain significance (Jun 21, 2021)
12-53307082-G-A		not specified	Uncertain significance (Sep 01, 2021)
12-53307106-G-A		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYG1	protein_coding	protein_coding	ENST00000267103	7	7492

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.35e-10	0.349	125682	0	65	125747	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.278	237	225	1.05	0.0000121	2402
Missense in Polyphen		58	62.834	0.92306		691
Synonymous	0.147	92	93.8	0.981	0.00000487	788
Loss of Function	0.932	17	21.7	0.784	0.00000134	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000612	0.000612
Ashkenazi Jewish	0.000111	0.0000992
East Asian	0.00126	0.000870
Finnish	0.00	0.00
European (Non-Finnish)	0.000288	0.000273
Middle Eastern	0.00126	0.000870
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0964

Intolerance Scores

• loftool: 0.920
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.18

Haploinsufficiency Scores

• pHI: 0.224
• hipred: N
• hipred_score: 0.196
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myg1
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: locomotory exploration behavior
• Cellular component: nucleus;nucleoplasm;mitochondrion
• Molecular function: molecular_function