| Variant ID | 29913 |
|---|---|
| Entrez Gene ID | 10892 |
| Gene | MALT1 (GeneCards) |
| Location | hg19 18:56400687-56400687
hg38 18:58733455-58733455 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000018.9:g.56400687 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs199843812 |
| Variant IDs in COSMIC (version 89) | 989298 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | 1.2477 |
| CADD Raw score (version 1.3) | 2.182485 (Deleterious) |
| FATHMM raw prediction score | 0.93536 (Tolerated) |
| Deleterious probability by DeFine | 0.8793 (Deleterious) |
| Entrez Gene ID | 10892 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MALT1 (GeneCards) |
| Number of variants in MALT1 in this database | 3 (view all the variants) |
| Full name | MALT1 paracaspase |
| Band | 18q21.32 |
| Other IDs | Vega: OTTHUMG00000132761 OMIM: 604860 HGNC: HGNC:6819 Ensembl: ENSG00000172175 |
| Other names | MLT, MLT1, IMD12, PCASP1 |
| Summary | This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018] |
| Individual ID | 28867142.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |