| Variant ID | 29861 |
|---|---|
| Entrez Gene ID | 3071 |
| Gene | NCKAP1L (GeneCards) |
| Location | hg19 12:54929978-54929978
hg38 12:54536194-54536194 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.54929978 C>T (Genome Assembly: hg19) |
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1592 |
| CADD Raw score (version 1.3) | 4.096425 (Deleterious) |
| FATHMM raw prediction score | 0.78838 (Tolerated) |
| SIFT score | 0.119 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.995 (Deleterious) |
| MutatioinAssessor score | 2.195 (Deleterious) |
| PROVEAN score | -3.42 (Deleterious) |
| MetaSVM score | -1.051 (Tolerated) |
| MetaLR score | 0.111 (Tolerated) |
| MCAP score | 0.036 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.19 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.896 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.369 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.114 |
| Deleterious probability by iFish2 | 0.3345 (Neutral) |
| Deleterious probability by DeFine | 0.8203 (Deleterious) |
| Entrez Gene ID | 3071 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NCKAP1L (GeneCards) |
| Number of variants in NCKAP1L in this database | 2 (view all the variants) |
| Full name | NCK associated protein 1 like |
| Band | 12q13.13-q13.2 |
| Other IDs | Vega: OTTHUMG00000169843 OMIM: 141180 HGNC: HGNC:4862 Ensembl: ENSG00000123338 |
| Other names | HEM1 |
| Summary | This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] |
| Individual ID | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |