MYCN
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYCN (HGNC:7559) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MYCN proto-oncogene, bHLH transcription factor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NMYC
Alias symbols
bHLHe37, N-myc, MYCNOT
%HI
6.93(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
2p24.3
Genomic Coordinates
GRCh37/hg19: chr2:16080672-16087126 NCBI Ensembl UCSC
GRCh38/hg38: chr2:15940550-15947004 NCBI Ensembl UCSC
MANE Select Transcript
NM_005378.6 ENST00000281043.4 (Read more about MANE Select)
Function
Positively regulates the transcription of MYCNOS in neuroblastoma cells. {ECO:0000269|PubMed:24391509}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23687
ClinGen Curation ID:
CCID:007501
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
07/12/2017

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 16906565
    Teszas et al. (2006): Identified a nonsense mutation in MYCN in a proband with Feingold syndrome. The mutation was inherited from the mother (and also present in the grandmother), both of whom had less severe clinical phenotypes.
  • PUBMED: 18671284
    Blaumeiser et al. (2008): Identified a de novo heterozygous 1-bp duplication in MYCN in a proband with Feingold syndrome. The mutation was predicted to result in premature truncation and nonsense-mediated mRNA decay.
  • PUBMED: 18470948
    Marcelis et al. (2008): Identified a nonsense mutation in MYCN that segregated with Feingold syndrome.
HI Evidence Comments:
MYCN haploinsufficiency is causative for Feingold syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
This review pertains to evidence linking focal duplication of MYCN to clinical phenotypes. Due to the presence of other genes in reported duplications, gene-level triplosensitivity is currently scored as 0. Please see the linked region for further evidence relating to the MYCN-DDX1 recurrent duplication region.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)