| Variant ID | 3369 |
|---|---|
| Entrez Gene ID | 23040 |
| Gene | MYT1L (GeneCards) |
| Location | hg19 2:1983512-1983512
hg38 2:1979740-1979740 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.1983512 C>G (Genome Assembly: GRCh37) |
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7203 |
| CADD Raw score (version 1.3) | 5.827385 (Deleterious) |
| FATHMM raw prediction score | 0.97557 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.215 (Deleterious) |
| PROVEAN score | -4.2 (Deleterious) |
| MetaSVM score | -0.465 (Tolerated) |
| MetaLR score | 0.304 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.1 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.195 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.89 |
| Deleterious probability by iFish2 | 0.9257 (Deleterious) |
| Deleterious probability by DeFine | 0.9679 (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 ID | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |