| Variant ID | 1534 |
|---|---|
| Entrez Gene ID | 23513 |
| Gene | SCRIB (GeneCards) |
| Location | hg19 8:144886086-144886086
hg38 8:143803916-143803916 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.144886086 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1049 |
| Amino acid changes in protein | R > C |
| Position in cDNA | 3145 |
| Changes in cDNA | C > T |
| mRNA accession | NM_182706.4 |
| mRNA length | 5276 |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2868753 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.3701 |
| CADD Raw score (version 1.3) | 7.193354 (Deleterious) |
| FATHMM raw prediction score | 0.91403 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| MutationTaster score | 0.968 (Deleterious) |
| MutatioinAssessor score | 1.66 (Tolerated) |
| PROVEAN score | -3.05 (Deleterious) |
| MetaSVM score | -0.043 (Tolerated) |
| MetaLR score | 0.415 (Tolerated) |
| MCAP score | 0.468 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.52 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.434 |
| Deleterious probability by iFish2 | 0.9048 (Deleterious) |
| Deleterious probability by DeFine | 0.9458 (Deleterious) |
| Entrez Gene ID | 23513 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCRIB (GeneCards) |
| Number of variants in SCRIB in this database | 2 (view all the variants) |
| Full name | scribbled planar cell polarity protein |
| Band | 8q24.3 |
| Other IDs | Vega: OTTHUMG00000165154 OMIM: 607733 HGNC: HGNC:30377 Ensembl: ENSG00000180900 |
| Other names | CRIB1, SCRB1, SCRIB1, Vartl |
| Summary | This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
| Individual ID | 28699658.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |