Overview

Variant ID 32605
Entrez Gene ID 4855
Gene NOTCH4 (GeneCards)
Location hg19 6:32191672-32191672
hg38 6:32223895-32223895
Disease Asymptomatic
Method NGS gene panel
Mutation(HGVS format) NC_000006.11:g.32191672 G>A (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 12
Amino acid changes in protein L > L
Position in cDNA 34
Changes in cDNA C > T
mRNA accession NA
mRNA length NA
Reference length 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.9806
CADD Raw score (version 1.3) -0.020046 (Deleterious)
FATHMM raw prediction score 0.37922 (Tolerated)
Deleterious probability by DeFine 0.8077 (Deleterious)
Entrez Gene ID 4855 (NCBI Gene)
Official Gene Symbol NOTCH4 (GeneCards)
Number of variants in NOTCH4 in this database 32 (view all the variants)
Full name notch 4
Band 6p21.32
Other IDs Vega: OTTHUMG00000031044
OMIM: 164951
HGNC: HGNC:7884
Ensembl: ENSG00000204301
Other names INT3
Summary This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Individual #1

Individual ID 25999502.02 (view all the variants in this individual)
Pubmed ID 25999502
Whose mosaic mutation Normal  
Origin of mosaic mutation in patients de novo
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 25999502

Pubmed ID 25999502
Title High burden and pervasive positive selection of somatic mutations in normal human skin
Journal Science
Publication date 2015.05
Disease Asymptomatic
Number of cases Male cases: 1; Female cases: 3;