| Variant ID | 821 |
|---|---|
| Entrez Gene ID | 285643 |
| Gene | KIF4B (GeneCards) |
| Location | hg19 5:154395967-154395967
hg38 5:155016407-155016407 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.154395967 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 850 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.0748 |
| CADD Raw score (version 1.3) | -0.06766 (Deleterious) |
| FATHMM raw prediction score | 0.02741 (Tolerated) |
| SIFT score | 0.701 (Tolerated) |
| MutationTaster score | 0.987 (Tolerated) |
| MutatioinAssessor score | 1.52 (Tolerated) |
| PROVEAN score | 0.17 (Tolerated) |
| MetaSVM score | -1.027 (Tolerated) |
| MetaLR score | 0.097 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.653 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.903 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.291 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.023 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.288 |
| Deleterious probability by iFish2 | 0.0096 (Neutral) |
| Deleterious probability by DeFine | 0.3243 (Neutral) |
| Entrez Gene ID | 285643 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF4B (GeneCards) |
| Number of variants in KIF4B in this database | 25 (view all the variants) |
| Full name | kinesin family member 4B |
| Band | 5q33.2 |
| Other IDs | Vega: OTTHUMG00000164143 OMIM: 609184 HGNC: HGNC:6322 Ensembl: ENSG00000226650 |
| Other names | None |
| Summary | This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |