| Variant ID | 15030 |
|---|---|
| Entrez Gene ID | 2313 |
| Gene | FLI1 (GeneCards) |
| Location | hg19 11:128684864-128684864
hg38 11:128814969-128814969 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.128684864 G>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.254524 (Deleterious) |
| FATHMM raw prediction score | 0.21905 (Tolerated) |
| Deleterious probability by DeFine | 0.4551 (Neutral) |
| Entrez Gene ID | 2313 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FLI1 (GeneCards) |
| Number of variants in FLI1 in this database | 1 (view all the variants) |
| Full name | Fli-1 proto-oncogene, ETS transcription factor |
| Band | 11q24.3 |
| Other IDs | Vega: OTTHUMG00000165792 OMIM: 193067 HGNC: HGNC:3749 Ensembl: ENSG00000151702 |
| Other names | EWSR2, SIC-1, BDPLT21 |
| Summary | This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
| 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; |