MYCNOS

MYCN opposite strand

Basic information

Links

ENSG00000233718 ∙ NCBI:10408 ∙ OMIM:605374 ∙ HGNC:16911 ∙ Uniprot:P40205 ∙ 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 MYCNOS gene.

• not provided (17 variants)
• Feingold syndrome type 1 (9 variants)
• not specified (3 variants)
• MYCN-related condition (3 variants)
• megalencephaly-polydactyly syndrome (1 variants)
• Malignant neoplasm of body of uterus (1 variants)
• Medulloblastoma (1 variants)
• Glioblastoma (1 variants)
• Pancreatic adenocarcinoma (1 variants)
• Neuroblastoma (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYCNOS 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding	4	5	5	12	1	27
Total	4	5	5	13	1

Highest pathogenic variant AF is 0.00000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates stability of MYCN in neuroblastoma cells by inhibiting GSK3B-mediated MYCN phosphorylation. Inhibits GSK3B activity by promoting its phosphorylation at 'Ser-9' (PubMed:24391509). {ECO:0000269|PubMed:24391509}.

Gene ontology

• Biological process: multicellular organism development;positive regulation of cell population proliferation;regulation of protein stability;negative regulation of kinase activity;negative regulation of apoptotic process
• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding