Overview

Variant ID 4364
Entrez Gene ID 23040
Gene MYT1L (GeneCards)
Location hg19 2:2608601-2608601
hg38 2:2604829-2604829
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000002.11:g.2608601 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1138
CADD Raw score (version 1.3) 0.246518 (Deleterious)
FATHMM raw prediction score 0.14365 (Tolerated)
Deleterious probability by DeFine 0.5926 (Deleterious)
Entrez Gene ID 23040 (NCBI Gene)
Official Gene Symbol MYT1L (GeneCards)
Number of variants in MYT1L in this database 13 (view all the variants)
Full name myelin transcription factor 1 like
Band 2p25.3
Other IDs Vega: OTTHUMG00000151407
OMIM: 613084
HGNC: HGNC:7623
Ensembl: ENSG00000186487
Other names NZF1, MRD39, myT1-L, ZC2H2C2, ZC2HC4B
Summary This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]

Individual #1

Individual ID 29217584.19 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;