MYNN

myoneurin, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 3:169773395-169789716

Links

ENSG00000085274 ∙ NCBI:55892 ∙ OMIM:606042 ∙ HGNC:14955 ∙ Uniprot:Q9NPC7 ∙ 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 MYNN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYNN 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in MYNN

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

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

Position	Type	Phenotype	Significance	ClinVar
3-169774313-C-T		Chronic osteomyelitis	association (Sep 01, 2016)
3-169774381-T-C		not specified	Uncertain significance (Aug 08, 2022)
3-169774444-G-A		not specified	Uncertain significance (Nov 21, 2023)
3-169774552-A-C		not specified	Uncertain significance (Feb 16, 2023)
3-169778908-T-C		not specified	Uncertain significance (Jun 17, 2024)
3-169779051-A-G		not specified	Uncertain significance (Dec 16, 2023)
3-169779052-A-C		not specified	Uncertain significance (Dec 16, 2023)
3-169779079-A-C		not specified	Uncertain significance (Sep 26, 2023)
3-169779177-G-T		not specified	Uncertain significance (Dec 09, 2023)
3-169779250-T-C		not specified	Uncertain significance (Jun 23, 2021)
3-169779259-C-G		not specified	Uncertain significance (Jan 04, 2024)
3-169779286-A-T		not specified	Uncertain significance (Jan 10, 2023)
3-169779339-G-A		not specified	Uncertain significance (Aug 17, 2021)
3-169779520-C-G		not specified	Uncertain significance (Sep 22, 2023)
3-169780668-A-G		not specified	Uncertain significance (May 10, 2024)
3-169780721-A-G		not specified	Uncertain significance (Jul 13, 2022)
3-169784642-G-A		not specified	Uncertain significance (Aug 28, 2023)
3-169786467-A-G		not specified	Uncertain significance (Aug 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYNN	protein_coding	protein_coding	ENST00000349841	7	16886

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.571	0.429	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	247	323	0.764	0.0000164	4046
Missense in Polyphen		52	107.52	0.48362		1357
Synonymous	1.19	103	120	0.862	0.00000625	1116
Loss of Function	3.64	5	24.4	0.205	0.00000124	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000190	0.000190
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000809	0.0000791
Middle Eastern	0.000218	0.000217
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.777
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.311
• hipred: Y
• hipred_score: 0.591
• ghis: 0.603

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.997

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mynn

Gene ontology

• Biological process: transcription, DNA-templated;regulation of transcription by RNA polymerase II;cellular response to leukemia inhibitory factor
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;zinc ion binding