| Variant ID | 29241 |
|---|---|
| Entrez Gene ID | 7798 |
| Gene | LUZP1 (GeneCards) |
| Location | hg19 1:23419554-23419554
hg38 1:23093061-23093061 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.23419554 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3418914 |
| Variant occurences in COSMIC | 3(large_intestine) |
| EIGEN score | 0.2852 |
| CADD Raw score (version 1.3) | 8.75263 (Deleterious) |
| FATHMM raw prediction score | 0.98439 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.73 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.11 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.511 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.509 |
| Deleterious probability by DeFine | 0.9211 (Deleterious) |
| Entrez Gene ID | 7798 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LUZP1 (GeneCards) |
| Number of variants in LUZP1 in this database | 1 (view all the variants) |
| Full name | leucine zipper protein 1 |
| Band | 1p36.12 |
| Other IDs | Vega: OTTHUMG00000003227 OMIM: 601422 HGNC: HGNC:14985 Ensembl: ENSG00000169641 |
| Other names | LUZP |
| Summary | This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] |
| Individual ID | 28503910.117 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |