Variant ID | 1425 |
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Entrez Gene ID | 10892 |
Gene | MALT1 (GeneCards) |
Location | hg19 18:56390408-56390408
hg38 18:58723176-58723176 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | NextSeq500 v2 |
Mutation(HGVS format) | NC_000018.9:g.56390408_56390408 del (Genome Assembly: hg19) |
Exon or Intron | Exon |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NM_006785.4 |
mRNA length | 9289 |
Reference length | 78077248 |
Deleterious probability by DeFine | 0.7849 (Deleterious) |
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Entrez Gene ID | 10892 (NCBI Gene) |
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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 | 28867142.11 (view all the variants in this individual) |
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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 |
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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; |