| Variant ID | 21052 |
|---|---|
| Entrez Gene ID | 3609 |
| Gene | ILF3 (GeneCards) |
| Location | hg19 19:10805023-10805023
hg38 19:10694347-10694347 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.10805023 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3823 |
| CADD Raw score (version 1.3) | -0.164661 (Deleterious) |
| FATHMM raw prediction score | 0.10692 (Tolerated) |
| Deleterious probability by DeFine | 0.1127 (Neutral) |
| Entrez Gene ID | 3609 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ILF3 (GeneCards) |
| Number of variants in ILF3 in this database | 1 (view all the variants) |
| Full name | interleukin enhancer binding factor 3 |
| Band | 19p13.2 |
| Other IDs | Vega: OTTHUMG00000180587 OMIM: 603182 HGNC: HGNC:6038 Ensembl: ENSG00000129351 |
| Other names | CBTF, DRBF, MMP4, MPP4, NF90, NFAR, NF110, NF90a, NF90b, NFAR2, TCP80, DRBP76, NF110b, NFAR-1, TCP110, MPHOSPH4, NF-AT-90 |
| Summary | This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |