| Variant ID | 29883 |
|---|---|
| Entrez Gene ID | 5641 |
| Gene | LGMN (GeneCards) |
| Location | hg19 14:93170685-93170685
hg38 14:92704340-92704340 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000014.8:g.93170685 G>A (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3690245 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.8615 |
| CADD Raw score (version 1.3) | 1.546997 (Deleterious) |
| FATHMM raw prediction score | 0.28372 (Tolerated) |
| SIFT score | 0.012 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -1.33 (Tolerated) |
| MetaSVM score | -1.042 (Tolerated) |
| MetaLR score | 0.071 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -3.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.538 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.608 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.352 |
| Deleterious probability by DeFine | 0.9147 (Deleterious) |
| Entrez Gene ID | 5641 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LGMN (GeneCards) |
| Number of variants in LGMN in this database | 2 (view all the variants) |
| Full name | legumain |
| Band | 14q32.12 |
| Other IDs | Vega: OTTHUMG00000171199 OMIM: 602620 HGNC: HGNC:9472 Ensembl: ENSG00000100600 |
| Other names | AEP, LGMN1, PRSC1 |
| Summary | This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.17 (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; |