| Variant ID | 8979 |
|---|---|
| Entrez Gene ID | 8347 |
| Gene | HIST1H2BC (GeneCards) |
| Location | hg19 6:26124119-26124119
hg38 6:26123891-26123891 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.26124119 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 | 0.6885 |
| CADD Raw score (version 1.3) | 3.859597 (Deleterious) |
| FATHMM raw prediction score | 0.95081 (Tolerated) |
| SIFT score | 0.043 (Deleterious) |
| MutationTaster score | 0.993 (Deleterious) |
| PROVEAN score | -1.66 (Tolerated) |
| MetaSVM score | -1.15 (Tolerated) |
| MetaLR score | 0.078 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.267 (Significant p < 0.05) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.419 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.316 |
| Deleterious probability by iFish2 | 0.9024 (Deleterious) |
| Deleterious probability by DeFine | 0.9607 (Deleterious) |
| Entrez Gene ID | 8347 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HIST1H2BC (GeneCards) |
| Number of variants in HIST1H2BC in this database | 1 (view all the variants) |
| Full name | histone cluster 1 H2B family member c |
| Band | 6p22.2 |
| Other IDs | Vega: OTTHUMG00000014425 OMIM: 602847 HGNC: HGNC:4757 Ensembl: ENSG00000180596 |
| Other names | H2B.1, H2B/l, H2BFL, dJ221C16.3 |
| Summary | Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] |
| 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; |