| Variant ID | 10439 |
|---|---|
| Entrez Gene ID | 55971 |
| Gene | BAIAP2L1 (GeneCards) |
| Location | hg19 7:98208026-98208026
hg38 7:98578714-98578714 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.98208026 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0091 |
| CADD Raw score (version 1.3) | 0.004524 (Deleterious) |
| FATHMM raw prediction score | 0.09591 (Tolerated) |
| Deleterious probability by DeFine | 0.2509 (Neutral) |
| Entrez Gene ID | 55971 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BAIAP2L1 (GeneCards) |
| Number of variants in BAIAP2L1 in this database | 2 (view all the variants) |
| Full name | BAI1 associated protein 2 like 1 |
| Band | 7q21.3-q22.1 |
| Other IDs | Vega: OTTHUMG00000165117 OMIM: 611877 HGNC: HGNC:21649 Ensembl: ENSG00000006453 |
| Other names | IRTKS |
| Summary | This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |