SF3B3
This page contains an overview of the genetic variation in the SF3B3 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
SF3B3 gene and transcript details
Gene Name
splicing factor 3b, subunit 3, 130kDa
Gene Links
Ensembl: ENSG00000189091 -
Locus Reference Genomic:
Genomic Location
Chromosome 16 : 70,560,560 - 70,605,716 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3651 bases) | Protein (1217 aa) |
|---|---|---|
 |
ENST00000302516 | ENSP00000305790 |
 |
||
 |
NM_012426.4 | |
 |
Q15393 |
Summary of SF3B3 in Cardiomyopathies
SF3B3 variants in ExAC
Details of the protein-altering SF3B3 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 257 | 0.00330 |
| Truncating | 6 | 0.00005 |
| Missense | 183 | 0.00241 |
| Inframe | 0 | 0.00000 |
| Splice Site | 68 | 0.00084 |