| Variant ID | 8970 |
|---|---|
| Entrez Gene ID | 100132735 |
| Gene | LOC100132735 (GeneCards) |
| Location | hg19 6:140289337-140289337
hg38 6:139968200-139968200 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.140289337 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0457 |
| CADD Raw score (version 1.3) | -0.029661 (Deleterious) |
| FATHMM raw prediction score | 0.11739 (Tolerated) |
| Deleterious probability by DeFine | 0.4435 (Neutral) |
| Entrez Gene ID | 100132735 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC100132735 (GeneCards) |
| Number of variants in FILNC1 in this database | 4 (view all the variants) |
| Full name | FOXO induced long non-coding RNA 1 |
| Band | 6q24.1 |
| Other IDs | HGNC: HGNC:53755 Ensembl: ENSG00000231426 |
| Other names | None |
| Summary | This gene produces a long non-coding RNA that is induced by forkhead box O proteins and plays a role in stress-induced apoptosis. Knock down of transcripts at this locus results in increased renal tumor growth and alteration in genes involved in glucose metabolism. This RNA interacts with heterogeneous nuclear ribonucleoprotein D and prevents it from binding to Myc mRNA, therefore suppressing Myc activity. Alternative splicing and transcriptional start site usage results in multiple transcript variants. [provided by RefSeq, Oct 2017] |
| 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; |