| Variant ID | 5905 |
|---|---|
| Entrez Gene ID | 100505385 |
| Gene | IQCJ-SCHIP1 (GeneCards) |
| Location | hg19 3:159136640-159136640
hg38 3:159418851-159418851 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.159136640 C>T (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0335 |
| CADD Raw score (version 1.3) | 0.400276 (Deleterious) |
| FATHMM raw prediction score | 0.11432 (Tolerated) |
| Deleterious probability by DeFine | 0.6346 (Deleterious) |
| Entrez Gene ID | 100505385 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IQCJ-SCHIP1 (GeneCards) |
| Number of variants in IQCJ-SCHIP1 in this database | 3 (view all the variants) |
| Full name | IQCJ-SCHIP1 readthrough |
| Band | 3q25.32-q25.33 |
| Other IDs | HGNC: HGNC:38842 Ensembl: ENSG00000283154 |
| Other names | None |
| Summary | This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |